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  • Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies Omim
    The aunt also developed retinitis pigmentosa, corneal dystrophy, glaucoma, and hypothyroidism. Patient 3 was a 28-year-old man from an unrelated family who presented in the first years of life with short stature, congenital hypothyroidism, and delayed psychomotor development with speech delay. ... In the first and second decades of life, he developed progressive hearing loss, retinitis pigmentosa, and diabetes mellitus. Height was -4.8 SD at age 28. Patients 2 and 3 had the appearance of premature aging with sparse hair and arterial hypertension.
    EXOSC2
    • Retinitis Pigmentosa-Hearing Loss-Premature Aging-Short Stature-Facial Dysmorphism Syndrome Orphanet
      A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears), and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination.
  • Coprophilia Wikipedia
    Drummer . No. 22 . Retrieved December 28, 2018 . Xavier CM (June 1955). "Coprophilia; a clinical study". Br J Med Psychol . 28 (2–3): 188–90. doi : 10.1111/j.2044-8341.1955.tb00893.x .
    IFNG, IL1B, IL6, CXCL8, PLA2G1B, PLA2G2A, PTGS2, TNF, PLA2G6, PLA2G10, PTGES, IMPACT
  • Scimitar Syndrome Wikipedia
    References [ edit ] ^ Sehgal, Arvind; Loughran-Fowlds, Allison, Clinical Brief: Scimitar Syndrome (PDF) , medIND — Biomedical journals from India , retrieved 2008-02-28 ^ a b Scimitar Syndrome , Children's Hospital Boston , retrieved 2008-02-28 ^ Oransky, Ivan (2006).
    MYRF, TMEM258
    • Scimitar Syndrome Orphanet
      Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt. Epidemiology The prevalence is estimated at between 1/100,000 and 1/33,333 live births. Females seem to be more frequently affected than males. Clinical description In the majority of cases, the disease manifests in the first months of life. In the neonatal period, the disease presents with congestive cardiac failure, most commonly due to pulmonary hypertension and respiratory distress. The right lung is most frequently involved. Variable degrees of hypoplasia and malformations of the pulmonary arteries are found in the affected lung, as well as arterial supply from the aorta, which can also arise above or below the diaphragm.
  • Cardiomyopathy, Dilated, 2a Omim
    The left ventricular shortening fraction at diagnosis ranged from 5 to 28% and was not correlated with outcome. ... Echocardiography showed a dilated left ventricle with poor function and he underwent cardiac transplantation at age 28, at which time his left ventricle end-diastolic volume (LVEDV) was 7.1 cm and fractional shortening was 4%.
    TTN, RBM20, TNNT2, SCN5A, BAG3, MYH7, MYBPC3, MYH6, DMD, PLN, DES, SGCD, TPM1, TMPO, ACTC1, PSEN1, RAF1, VCL, CSRP3, TCAP, SDHA, TAZ, TAF1A, PSEN2, TNNI3, TNNC1, FKTN, ACTN2, NEXN, MYPN, PPCS, CRYAB, PRDM16, DSG2, FHL2, ABCC9, GATAD1, ANKRD1, DOLK, LDB3, TXNRD2, NEBL, CAP2, LAMA4, LMNA, TTN-AS1, ACTB, CMD1B, LAG3, CHRM2, GATA4, TRIT1, CASZ1, ERBIN, FLNC, NKX2-5, REN, CALD1, MYLK3, MYL12B, GATA5, APP, LAMA1, LINC01672, MYEF2, GATA6, CNTN3, MEF2A, MYOG, MYLK, MYL2, MEOX1, PDLIM7, HAND2, SRA1, GJA1, PPIF, BCAP31, KCNJ12, HSP90AA1, HSPA1B, MYL12A, SOX9
    • Cardiomyopathy, Dilated, 1nn Omim
      A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1NN (CMD1NN) is caused by heterozygous mutation in the RAF1 gene (164760) on chromosome 3p25. For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). Clinical Features Dhandapany et al. (2014) reported patients with nonsyndromic dilated cardiomyopathy (CMD) and mutations in the RAF1 gene (see MOLECULAR GENETICS). Of 10 patients in whom age of onset was known, 8 presented in childhood or adolescence. The average age at presentation was 12.6 years, which the authors noted was younger than the approximate average of 20 years associated with CMD caused by sarcomeric gene mutations.
    • Cardiomyopathy, Dilated, 1kk Omim
      A number sign (#) is used with this entry because of evidence that cardiomyopathy of the dilated (CMD1KK), hypertrophic (CMH22), or restrictive (RCM4) type can be caused by heterozygous mutation in the myopalladin gene (MYPN; 608517) on chromosome 10q21. For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200; for hypertrophic cardiomyopathy, see 192600; for familial restrictive cardiomyopathy, see 115210. Clinical Features Duboscq-Bidot et al. (2008) studied 6 patients from 2 families, as well as 2 sporadic patients, with isolated dilated cardiomyopathy due to mutations in the myopalladin gene (see MOLECULAR GENETICS). Mean age at diagnosis was 40 years. Of the 8 patients, 4 had incomplete left bundle branch block (BBB) on electrocardiogram, 1 had complete left BBB, and 1 had right BBB; 3 patients had left ventricular hypertrophy. There were 3 cardiac deaths due to refractory congestive heart failure, at 20, 29, and 55 years of age.
    • Cardiomyopathy, Dilated, 1x Omim
      A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1X (CMD1X) is caused by compound heterozygous mutation in the gene encoding fukutin (FKTN; 607440) on chromosome 9q31. For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). Clinical Features Murakami et al. (2006) described 6 Japanese patients from 4 families with dilated cardiomyopathy and mild or no limb-girdle muscle involvement, normal intelligence, and no history of seizures. One patient died at age 12 years from rapidly progressive CMD, and another underwent cardiac transplantation at age 18 years. Skeletal muscle biopsies from the patients showed minimal dystrophic features but altered glycosylation of alpha-dystroglycan (128239) and reduced laminin (see 150240)-binding ability.
    • Cardiomyopathy, Dilated, 1cc Omim
      A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1CC (CMD1CC) is caused by heterozygous mutation in the nexilin gene (NEXN; 613121) on chromosome 1p31. For a phenotypic description and discussion of genetic heterogeneity in dilated cardiomyopathy, see CMD1A (115200). Clinical Features Hassel et al. (2009) reported 9 patients with CMD due to an NEXN mutation with onset of dilated cardiomyopathy in the fifth or sixth decade of life. The average left ventricular end-diastolic diameter was approximately 69 mm, and average left ventricular ejection fraction was approximately 26%. One patient underwent heart transplantation at age 60 years due to progressive dilated cardiomyopathy.
    • Cardiomyopathy, Dilated, 1m Omim
      A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1M (CMD1M) is caused by heterozygous mutation in the CSRP3 gene (600824) on chromosome 11p15. One such family has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). Clinical Features In 10 patients with CMD, Knoll et al. (2002) reported a clinical phenotype that included chamber dilation, thin ventricular walls, decreased contractility and impaired relaxation, and no evidence of hypertrophic cardiomyopathy. The phenotype was considered consistent with Csrp3-deficient mouse heart. Mohapatra et al. (2003) described a 2-year-old girl who died after a 2-day illness, in whom autopsy revealed an enlarged and dilated heart with endocardial fibroelastosis (EFE) of the left ventricle.
    • Cardiomyopathy, Dilated, 1v Omim
      A number sign (#) is used with this entry because dilated cardiomyopathy-1V is caused by heterozygous mutation in the PSEN2 gene (600759) on chromosome 1q31-q42. For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). Clinical Features Li et al. (2006) described 2 families with dilated cardiomyopathy segregating with mutation in the PSEN2 gene (CMD1V). The mutation was present in heterozygous state. Both were white families. Onset of cardiovascular disease occurred at the age of 48 to 55 years in one family.
    • Cardiomyopathy, Dilated, 1w Omim
      A number sign (#) is used with this entry because this form of dilated cardiomyopathy is caused by mutation in the gene encoding metavinculin (VCL; 193065). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). Molecular Genetics Olson et al. (2002) used SSCP to analyze the VCL gene, which maps to chromosome 10q, in 350 unrelated patients with sporadic or familial dilated cardiomyopathy who were negative for mutations in the ACTC (102540) and TPM1 (191010) genes, and identified heterozygosity for a 3-bp in-frame deletion (L954del; 193065.0001) and a missense mutation (R975W; 193065.0002) in 2 patients, respectively. Neither mutation was found in 500 controls. A potential risk-conferring polymorphism, A934V, was identified in heterozygosity in a 30-year-old man with dilated cardiomyopathy who died 2 years after diagnosis of progressive heart failure; this variant was also found in 1 of 500 controls, a 67-year-old woman in whom electrocardiography showed abnormal T waves but echocardiogram was nondiagnostic for dilated cardiomyopathy. All 3 variants were located in exon 19, the metavinculin-specific exon of the VCL gene.
    • Cardiomyopathy, Dilated, 1jj Omim
      A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1JJ (CMD1JJ) is caused by heterozygous mutation in the LAMA4 gene (600133) on chromosome 6q21. For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). Molecular Genetics Knoll et al. (2007) sequenced the LAMA4 gene in 180 Caucasian patients with severe dilated cardiomyopathy (CMD) and identified heterozygosity for a nonsense (R1073X; 600133.0001) and a missense (P943L; 600133.0002) mutation in 2 patients, respectively. Genotyping for these mutations in an additional 374 Caucasian CMD patients identified 1 more patient with the P943L mutation. Neither mutation was found in 362 well-characterized Caucasian controls, and screening the LAMA4 gene by SSCP in an additional 200 Japanese CMD patients revealed no variants.
    • Cardiomyopathy, Dilated, 1o Omim
      A number sign (#) is used with this entry because this form of cardiomyopathy can be caused by mutation in the ABCC9 gene (601439). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). Bienengraeber et al. (2004) performed mutation scans of K(ATP) (ATP-sensitive potassium) channel genes in 323 individuals, predominantly of European descent, with idiopathic dilated cardiomyopathy. They identified 2 heterozygous mutations in the ABCC9 gene, both in exon 38, which encodes the C-terminal domain of SUR2A specific to the cardiac splice variant of the regulatory K(ATP) channel subunit. Both individuals with mutations in ABCC9 had severely dilated hearts with compromised contractile function and rhythm disturbances.
    • Cardiomyopathy, Dilated, 1aa, With Or Without Left Ventricular Noncompaction Omim
      A number sign (#) is used with this entry because of evidence that cardiomyopathy of the dilated (CMD1AA) or hypertrophic (CMH23) type, with or without left ventricular noncompaction (LVNC), can be caused by heterozygous mutation in the gene encoding alpha-actinin-2 (ACTN2; 102573) on chromosome 1q43. For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600). Clinical Features Mohapatra et al. (2003) reported a 7-year-old girl who died of dilated cardiomyopathy only a few weeks after the onset of symptoms. At autopsy, marked dilation of both ventricles, myocyte hypertrophy, and interstitial fibrosis were noted; there were no viral genomic sequences on PCR analysis of cardiac tissue or histologic evidence of myocarditis.
    • Cardiomyopathy, Dilated, 1bb Omim
      A number sign (#) is used with this entry because of evidence that susceptibility to dilated cardiomyopathy is associated with variation in the desmoglein-2 gene (DSG2; 125671). For a phenotypic description and discussion of genetic heterogeneity in dilated cardiomyopathy, see CMD1A (115200). Molecular Genetics In a man with dilated cardiomyopathy who had severely decreased cardiac function and underwent cardiac transplantation at 44 years of age, Posch et al. (2008) identified homozygosity for the V55M mutation in the DSG2 gene (125671.0009). The proband's father, who had less severe disease with a later onset, was heterozygous for the mutation, as was his asymptomatic mother; his paternal grandfather had died of heart failure at 57 years of age. The proband had no abnormalities of skin or hair. Posch et al. (2008) subsequently screened 538 CMD patients for the DSG2 V55M variant and identified 13 unrelated carriers (2.4%); the variant was also found in 1 (0.23%) of 432 individuals without CMD (p less than 0.006).
    • Cardiomyopathy, Dilated, 1p Omim
      A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1P (CMD1P) is caused by heterozygous mutation in the phospholamban gene (PLN; 172405) on chromosome 6q22. For a discussion of the genetic heterogeneity in hereditary dilated cardiomyopathy, see CMD1A (115200). Clinical Features Schmitt et al. (2003) reported a 4-generation family with dilated cardiomyopathy (CMD) and heart failure inherited in an autosomal dominant fashion. Affected individuals had increased chamber dimensions and decreased contractile function at age 20 to 30 years, with progression to heart failure within 5 to 10 years after symptom onset. Congestive heart failure was severe in 12 individuals, necessitating cardiac transplantation in 4.
    • Cardiomyopathy, Dilated, 1gg Omim
      A number sign (#) is used with this entry because of evidence that this form of dilated cardiomyopathy is caused by homozygous mutation in the SDHA gene (600857). For a general phenotypic description and discussion of genetic heterogeneity in dilated cardiomyopathy, see CMD1A (115200). Clinical Features Levitas et al. (2010) studied 15 Bedouin patients from a single tribe who presented with dilated cardiomyopathy (CMD) between the ages of 32 weeks' gestation and 10 years. Electrocardiography showed sinus rhythm with left ventricular hypertrophy and normal QTC intervals; echocardiography revealed left ventricular dilation in all patients, and 8 of the infants were also diagnosed with left ventricular noncompaction (LVNC1; see 604169). At presentation, all patients had normal growth and a normal neuromuscular examination, including muscle bulk and strength, reflexes, and gait.
    • Left Ventricular Noncompaction 8 Omim
      A number sign (#) is used with this entry because of evidence that left ventricular noncompaction-8 (LVNC8) and dilated cardiomyopathy-1LL (CMD1LL) are caused by heterozygous mutation in the PRDM16 gene (605557) on chromosome 1p36. For a general phenotypic description and a discussion of genetic heterogeneity of left ventricular noncompaction, see LVNC1 (604169). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). Clinical Features Arndt et al. (2013) described 3 patients with left ventricular noncompaction who were found to have mutations in the PRDM16 gene (see MOLECULAR GENETICS). The first patient was a man who presented at 33 years of age with severe biventricular heart failure with systolic and diastolic dysfunction, secondary pulmonary hypertension, and dilation of both atria and ventricles.
    • Cardiomyopathy, Dilated, 1ii Omim
      A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1II (CMD1II) is caused by heterozygous mutation in the CRYAB gene (123590) on chromosome 11q23. Clinical Features Inagaki et al. (2006) studied a 71-year-old Japanese woman with mild, late-onset dilated cardiomyopathy (CMD) who developed cardiac symptoms only after the fourth decade of life. Her electrocardiogram (ECG) showed ventricular tachycardia, with apparent inverted T waves in leads V4 to V6. She had 6 sibs, 2 of whom had CMD at ages 56 and 66 years; 2 other sibs had sudden cardiac death at ages 60 and 72 years. Pilotto et al. (2006) reported a 48-year-old woman with mild, late-onset CMD, characterized by mild left ventricular dilation, moderately decreased ejection fraction, mild mitral regurgitation, and mildly increased serum CPK (279 U/l).
    • Cardiomyopathy, Dilated, 1hh Omim
      A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1HH is caused by heterozygous mutation in the BAG3 gene (603883) on chromosome 10q26.11. For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy (CMD), see CMD1A (115200). Clinical Features Norton et al. (2011) reported 17 individuals from 8 families with dilated cardiomyopathy who carried heterozygous mutations in the BAG3 gene. The age at onset or diagnosis of the CMD phenotype ranged from 21 years to 64 years (median, 44). Disease severity varied considerably: although 9 of the 17 mutation carriers with CMD underwent heart transplant or died with advanced heart failure, there were 4 mutation carriers who had no disease and 1 who was asymptomatic with only mild left ventricular dysfunction.
    • Cardiomyopathy, Dilated, 1i Omim
      She had progressive dyspnea and died at age 28 from heart failure. She had never complained about muscle weakness, and no neurologic examination was ever performed.
    • Cardiomyopathy, Dilated, 1g Omim
      A number sign (#) is used with this entry because of evidence that autosomal dominant dilated cardiomyopathy-1G (CMD1G) is caused by heterozygous mutation in the titin gene (TTN; 188840) on chromosome 2q31. For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy (CMD), see CMD1A (115200). Mapping Siu et al. (1999) clinically evaluated 3 generations of a Native American kindred with autosomal dominant transmission of dilated cardiomyopathy. Nine surviving affected individuals had early-onset disease (ventricular chamber dilatation during the teenage years and congestive heart failure during the third decade of life). The disease was nonpenetrant in 2 obligate carriers. By linkage analysis, Siu et al. (1999) identified a novel disease locus at marker D2S1244 on 2q31 (maximum lod = 4.06 at theta = 0.0) between the glucagon gene (138030) and marker D2S72; they designated this locus CMD1G.
    • Cardiomyopathy, Dilated, 1a Omim
      A number sign (#) is used with this entry because dilated cardiomyopathy-1A (CMD1A) is caused by heterozygous mutation in the lamin A/C gene (LMNA; 150330) on chromosome 1q22. Description Dilated cardiomyopathy (CMD) is characterized by cardiac dilatation and reduced systolic function. CMD is the most frequent form of cardiomyopathy and accounts for more than half of all cardiac transplantations performed in patients between 1 and 10 years of age. A heritable pattern is present in 20 to 30% of cases. Most familial CMD pedigrees show an autosomal dominant pattern of inheritance, usually presenting in the second or third decade of life (summary by Levitas et al., 2010). Genetic Heterogeneity of Dilated Cardiomyopathy Mutations in many other genes have been found to cause different forms of dilated cardiomyopathy.
    • Cardiomyopathy, Dilated, 1h Omim
      For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). Clinical Features Jung et al. (1999) studied a German family in which 12 individuals had autosomal dominant CMD characterized by ventricular dilatation, impaired systolic function, and conduction disease. Mapping After exclusion of the known loci for CMD in a German family segregating for the disorder, Jung et al. (1999) performed a whole-genome screen and detected linkage to 2q14-q22. A peak lod score of 3.73 at a recombination fraction of zero was found at D2S2339.
    • Left Ventricular Noncompaction 10 Omim
      A number sign (#) is used with this entry because of evidence that left ventricular noncompaction-10 (LVNC10) and dilated cardiomyopathy-1MM (CMD1MM) are caused by heterozygous mutation in the MYBPC3 gene (600958) on chromosome 11p11. Clinical Features Probst et al. (2011) described 2 families with left ventricular noncompaction (LVNC) due to mutations in the MYBPC3 gene (see MOLECULAR GENETICS). In the first family, the male proband presented at age 70 years with dyspnea; family screening revealed that his asymptomatic son was also affected. Both patients had noncompacted segments of the left midventricular inferior and lateral wall. In the second family, the female proband had nonsustained ventricular flutter and received an implantable cardioverter-defibrillator; she had noncompacted segments of the apex and midventricular wall.
    • Cardiomyopathy, Dilated, 1u Omim
      A number sign (#) is used with this entry because dilated cardiomyopathy-1U is caused by heterozygous mutation in the PSEN1 gene (104311) on chromosome 14q24.3. For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). Clinical Features Li et al. (2006) described an African American family with dilated cardiomyopathy segregating with mutation in the PSEN1 gene (CMD1U). Affected members were identified in 3 generations. Onset of dilated cardiomyopathy and heart failure ranged from age 24 to 69 years. Mortality from progressive heart failure usually followed within a few years of diagnosis.
    • Cardiomyopathy, Dilated, 1k Omim
      For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). Mapping Sylvius et al. (2001) reported the results of a linkage analysis of a French family in which 9 individuals in 3 successive generations expressed the pure form of dilated cardiomyopathy. They identified a novel locus, CMD1K, on 6q12-q16 using a genomewide search after exclusion of all other disease loci and genes for dilated cardiomyopathy. The maximum pairwise lod score was 3.52 at recombination fraction 0.0 for markers D6S1644 and D6S1694. The CMD1K locus did not overlap with 2 other disease loci mapped to 6q, CMD1J (605362) on 6q23-q24, and MFM1 (formerly CMD1F; 601419) on 6q23.
    • Cardiomyopathy, Dilated, 1z Omim
      A number sign (#) is used with this entry because dilated cardiomyopathy-1Z is caused by mutation in the gene encoding slow troponin-C (TNNC1; 191040) on chromosome 3p. For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). Clinical Features Mogensen et al. (2004) studied a 3-generation family with severe dilated cardiomyopathy in which the proband had sudden onset of heart failure at 21 years of age and underwent cardiac transplantation 2 months later. His mother died at 45 years of age awaiting cardiac transplantation, his maternal grandfather died of heart failure at 62 years of age after 8 months of medical treatment, and a maternal aunt had unexplained sudden death at 21 years of age. A maternal uncle and cousin received cardiac transplants at age 52 and 22 years, respectively; the uncle, who had normal cardiac function at the time of his son's transplant, developed heart failure 2 years later and required transplantation within 2 months of symptom onset.
    • Cardiomyopathy, Dilated, 2c Omim
      A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-2C (CMD2C) is caused by homozygous or compound heterozygous mutation in the PPCS gene (609853) on chromosome 1p34. Description CMD2C is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years. Affected individuals exhibit reduction in coenzyme A (CoA) levels. Some severely affected children die in the first few years of life (Iuso et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy (CMD), see 115200. Clinical Features Iuso et al. (2018) studied a consanguineous Arab Muslim family (family B) in which 4 sibs had dilated cardiomyopathy of variable severity.
    • Cardiomyopathy, Dilated, 1s Omim
      A number sign (#) is used with this entry because dilated cardiomyopathy-1S (CMD1S) is caused by heterozygous mutation in the MYH7 gene (160760) on chromosome 14q12. Mutation in the MYH7 gene has also been associated with left ventricular noncompaction (LVNC5), hypertrophic cardiomyopathy (CMH1; 192600), and myosin storage myopathy (608358). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200); for a similar discussion of left ventricular noncompaction, see LVNC1 (604169). Clinical Features Kamisago et al. (2000) studied affected members of a large 4-generation family segregating autosomal dominant dilated cardiomyopathy (CMD). Seventeen family members had dilated cardiomyopathy without conduction system disease, skeletal muscle dysfunction, or other phenotypes.
    • Cardiomyopathy, Dilated, 1r Omim
      Families were phenotypically characterized by echocardiography, with CMD being defined as left ventricular end-diastolic dimension (LVEDD) greater than the 95th percentile for age and body surface area, and shortening fraction less than 28%. Individuals in both families had variable age at diagnosis (1 to 41 years), similar to other CMD families, with age at diagnosis differing by as much as 20 to 50 years.
    • Cardiomyopathy, Dilated, 1dd Omim
      A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1DD is caused by heterozygous mutation in the RBM20 gene (613171) on chromosome 10q25. For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). Clinical Features Brauch et al. (2009) studied 2 large multigenerational European American families with dilated cardiomyopathy (CMD). In 'kindred DC-12,' the patriarch, who was of Scottish ancestry, died suddenly at 39 years of age. Ten family members developed documented CMD, 2 as young children; the mean age at diagnosis was 30 years.
    • Cardiomyopathy, Dilated, 1y Omim
      A number sign (#) is used with this entry because dilated cardiomyopathy-1Y (CMD1Y) and left ventricular noncompaction-9 (LVNC9) are caused by heterozygous mutation in the TPM1 gene (191010) on chromosome 15q22.1. For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). Description Dilated cardiomyopathy-1Y (CMD1Y) is characterized by severe progressive cardiac failure, resulting in death in the third to sixth decades of life in some patients. Electron microscopy shows an abnormal sarcomere structure (Olson et al., 2001). In left ventricular noncompaction-9 (LVNC9), patients may present with cardiac failure or may be asymptomatic.
    • Cardiomyopathy, Dilated, 1q Omim
      For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). Clinical Features Schonberger et al. (2005) reported a 3-generation Portuguese family in which 16 individuals had dilated cardiomyopathy (CMD). The pedigree was consistent with autosomal dominant inheritance and age-related penetrance, with age of onset between 25 and 47 years of age. Mapping In a 3-generation Portuguese family segregating autosomal dominant dilated cardiomyopathy, Schonberger et al. (2005) performed genomewide linkage analysis and excluded linkage to all known CMD genes and loci, whereas several close markers on chromosome 7q22.3-q31.1 segregated with the disease (maximum lod score, 4.20 at D7S471 and D7S501). Recombination events defined a 9.73-Mb disease interval between D7S2545 and D7S2554.
    • Cardiomyopathy, Dilated, 1l Omim
      A number sign (#) is used with this entry because this form of dilated cardiomyopathy is caused by mutations in the gene encoding delta-sarcoglycan (SGCD; 601411). Description Dilated cardiomyopathy, a disorder characterized by cardiac dilation and reduced systolic function, represents an outcome of a heterogeneous group of inherited and acquired disorders. For background and phenotypic information on dilated cardiomyopathy, see CMD1A (115200). Molecular Genetics Cardiomyopathy in the hamster is a model of human hereditary cardiomyopathy and is divided into hypertrophic cardiomyopathy (HCM; BIO 14.6 strain) and dilated cardiomyopathy (DCM; TO-2 strain) inbred sublines, both of which descended from the same ancestor and are due to mutations in the gene encoding delta-sarcoglycan (Sakamoto et al., 1997; Nigro et al., 1997). Hypothesizing that DCM is a disease of the cytoskeleton and sarcolemma, Tsubata et al. (2000) focused on candidate genes whose products are found in these structures.
    • Cardiomyopathy, Dilated, 1d Omim
      A number sign (#) is used with this entry because familial dilated cardiomyopathy mapping to 1q32 was shown to result from heterozygous mutation in the gene encoding cardiac troponin T (TNNT2; 191045) on chromosome 1q32. Mutation in the TNNT2 gene has also been associated with left ventricular noncompaction (LVNC6), hypertrophic cardiomyopathy (CMH2; 192600), and restrictive cardiomyopathy (RCM3; 612422). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200); for a similar discussion of left ventricular noncompaction, see LVNC1 (604169). Clinical Features Kamisago et al. (2000) studied families with dilated cardiomyopathy. In 1 family (family C), sudden death occurred in a 26- and a 27-year-old as well as in a 1- and an 8-month-old, both of whom had a diagnosis of infantile cardiomyopathy.
    • Cardiomyopathy, Dilated, 1c, With Or Without Left Ventricular Noncompaction Omim
      A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1C with or without left ventricular noncompaction (CMD1C), left ventricular noncompaction-3 (LVNC3), and familial hypertrophic cardiomyopathy-24 (CMH24) are caused by heterozygous mutation in the LDB3 gene (605906). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200); for a similar discussion of left ventricular noncompaction and familial hypertrophic cardiomyopathy, see LVNC1 (604169) and CMH1 (192600), respectively. Clinical Features Xing et al. (2006) reported 2 Japanese families, one with dilated cardiomyopathy and/or left ventricular noncompaction, and the other with isolated LVNC. In the first family, twin sisters presented with isolated LVNC shortly after birth; their father and paternal grandfather were reportedly diagnosed with LVNC and dilated cardiomyopathy. In the second family, the male proband was diagnosed with isolated LVNC and Wolff-Parkinson-White syndrome (WPW; 194200) on routine physical examination at 13 years of age; his asymptomatic mother was found to have LVNC on echocardiography.
    • Cardiomyopathy, Dilated, 1e Omim
      A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1E can be caused by mutation in the cardiac sodium channel gene SCN5A (600163). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). Clinical Features Greenlee et al. (1986) reported a large family of German and Swiss ancestry with dilated cardiomyopathy, conduction defect, and arrhythmia. The phenotype included sinus node dysfunction in adolescence, supraventricular tachyarrhythmia, and progressive atrial ventricular and intraventricular conduction delay that led to permanent pacing in most cases. The phenotype was also characterized by a progression toward atrial dilation, frequently followed by right ventricular dilation and, in some cases, led to ventricular dilation and dysfunction.
    • Cardiomyopathy, Dilated, 1b Omim
      For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). Mapping In a single large 6-generation family with autosomal dominant dilated cardiomyopathy, Krajinovic et al. (1995) performed a genomewide search for linkage. After a large series of candidate genes were excluded, they demonstrated linkage to 9q13-q22 with a maximum multipoint lod score of 4.2 (when data from 2 other families selected on the basis of the same stringent diagnostic criteria were included). There was no evidence of heterogeneity. The FDC locus was placed in the interval between D9S153 and D9S152. Friedreich ataxia (229300), which is frequently associated with dilated cardiomyopathy, maps to the same region as does also the cAMP-dependent protein kinase (176893), which regulates calcium-channel ion conductance in the heart.
    • Cardiomyopathy, Dilated, 3b Omim
      A number sign (#) is used with this entry because of evidence that X-linked dilated cardiomyopathy-3B is caused by mutation in the gene encoding dystrophin (DMD; 300377) on chromosome Xp21. X-linked dilated cardiomyopathy is a prominent feature of Barth syndrome (302060), caused by mutation in the TAZ gene (300394) on chromosome Xq28. For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200. Clinical Features Berko and Swift (1987) described a black family in which 11 young male members had definite or possible evidence of dilated cardiomyopathy. The 5 affected males for whom they had complete clinical data survived for 5 to 12 months after the onset of symptoms, which occurred between ages 15 and 21 years.
    • Familial Isolated Dilated Cardiomyopathy Orphanet
      A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present. Epidemiology The prevalence and incidence of Familial isolated dilated cardiomyopathy (FDC) is unknown; however, the incidence of dilated cardiomyopathy (DCM) is estimated between 1/12,000-28,000 worldwide; the prevalence of dilated cardiomyopathy is estimated at 1/2500; FDC is reported to make up about 20-30% of DCM case (range 2-65%). Clinical description The disease is defined by the presence of two major clinical criteria: left ventricular (LV) fractional shortening less than 25% and/or LV ejection fraction less than 45% with LV end diastolic diameter greater than 117% of the predicted value (corrected for age and body surface area based on Henry's formula), in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease can develop at any age, in either sex. LV mass is often greatly increased in this disorder but LV wall thickness is normal.
    • Cardiomyopathy, Dilated, 2b Omim
      A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-2B (CMD2B) is caused by homozygous mutation in the GATAD1 gene (614518) on chromosome 7q21. One such family has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy (CMD), see 115200. Clinical Features Theis et al. (2011) studied a consanguineous family of Norwegian ancestry segregating autosomal recessive dilated cardiomyopathy. The proband was a 74-year-old woman who presented at age 50 with heart failure and cardiomegaly; echocardiography was diagnostic for CMD. Left ventricular endomyocardial biopsy showed moderate myocyte hypertrophy, mild focal interstitial fibrosis, and mild diffuse endocardial fibrosis, consistent with chronic cardiomyopathy.
    • Cardiomyopathy, Dilated, 1ff Omim
      A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1FF is caused by heterozygous mutation in the TNNI3 gene (191044). For a general phenotypic description and discussion of genetic heterogeneity in dilated cardiomyopathy, see CMD1A (115200). Molecular Genetics Carballo et al. (2009) analyzed the TNNI3 gene in 96 probands with dilated cardiomyopathy (CMD) in whom screening for mutations in 6 more commonly implicated CMD genes was negative and identified heterozygosity for 2 different TNNI3 missense mutations in 2 male probands (191044.0012 and 191044.0013, respectively). The probands, who were diagnosed with CMD at ages 15 and 24 years, respectively, both required cardiac transplantation soon after diagnosis.
    • Cardiomyopathy, Dilated, 1ee Omim
      A number sign (#) is used with this entry because of evidence that this form of dilated cardiomyopathy is caused by mutation in the MYH6 gene (160710). For a general phenotypic description and discussion of genetic heterogeneity in dilated cardiomyopathy, see CMD1A (115200). Molecular Genetics Carniel et al. (2005) analyzed the MYH6 gene in 69 families with dilated cardiomyopathy (CMD), including 134 affected and 214 unaffected individuals, and identified 3 heterozygous missense mutations in 3 sporadic Caucasian patients (160710.0005-160710.0007, respectively). None of the 3 mutations were detected in 150 ethnically similar controls. Mutations in 7 known CMD genes were excluded in the patients in whom MYH6 mutations had been identified.
  • Myopathy, Granulovacuolar Lobular, With Electrical Myotonia Omim
    Two of the patients were sibs. The sister, aged 28 years, was well until age 18 years when difficulty climbing stairs and frequent tripping were noted.
  • Median-Ulnar Nerve Communications Omim
    Crutchfield and Gutmann (1980) found median-ulnar communications in 28% of the general population and in 62% of family members.
  • Absence Of Gluteal Muscle Wikipedia
    It was thought to be caused by an autosomal recessive gene . There was a case of a 28 month old with renal ectopia who showed absence of the gluteal muscle with no spina bifida occulta.
    • Gluteal Muscles, Absence Of Omim
      Clinical Features Carnevale et al. (1976) described a brother and sister with congenital absence of gluteal muscles and with spina bifida occulta. They posited that the sibs were homozygous for a gene that, in heterozygous form in both parents and 2 apparently normal sibs, was expressed as sacral spina bifida occulta. Two other sibs had died soon after birth, one with anencephaly and the other with probable spina bifida. Edgar et al. (2012) reported the case of a 15-year-old white male with congenital absence of the gluteus maximus muscles associated with spina bifida occulta, learning disability, optic nerve hypoplasia, scoliosis, and central nervous system hamartomas. INHERITANCE - Autosomal recessive HEAD & NECK Eyes - Optic nerve hypoplasia (in 1 patient) SKELETAL Spine - Spina bifida occulta - Scoliosis (in 1 patient) MUSCLE, SOFT TISSUES - Congenital absence of gluteal muscles NEUROLOGIC Central Nervous System - Mental retardation (in 2 patients) Learning disability (in 1 patient) MISCELLANEOUS - Based on 2 reports of 3 patients (last curated September 2012) ▲ Close
  • Microvasculature Remodeling Wikipedia
    What makes vessels grow with exercise training? J App Physiol 97: 1119–28, 2004. This cardiovascular system article is a stub .
  • Multiple Cutaneous Leiomyoma Wikipedia
    See also [ edit ] List of cutaneous conditions References [ edit ] ^ "Hereditary leiomyomatosis and renal cell cancer | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . Retrieved 28 April 2019 . ^ a b Freedberg, et al. (2003).
  • Autosomal Dominant Multiple Pterygium Syndrome Wikipedia
    "Orphanet: Autosomal dominant multiple pterygium syndrome" . www.orpha.net . Retrieved 28 September 2019 . ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
    CHRNG, MYH3, TPM2, RYR1, PTPN11, ACHE, GBE1, IRF6, RAPSN
    • Multiple Pterygium Syndrome Medlineplus
      Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend. The two forms of multiple pterygium syndrome are differentiated by the severity of their symptoms. Multiple pterygium syndrome, Escobar type (sometimes referred to as Escobar syndrome) is the milder of the two types.
    • Multiple Pterygium Syndrome, Escobar Variant Omim
      A number sign (#) is used with this entry because the nonlethal Escobar variant of multiple pterygium syndrome (EVMPS) is caused by homozygous or compound heterozygous mutation in the CHRNG gene (100730), which encodes the gamma subunit of the acetylcholine receptor (AChR), on chromosome 2q. Mutations in this gene can also cause the lethal variant of this phenotype (LMPS; 253290). Description Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (253290) and nonlethal (Escobar) types. Clinical Features Webbing of the neck, antecubital fossae, and popliteal fossae with sternal deformity and male hypogonadism may behave sometimes as a dominant, but there clearly appears to be a recessive pterygium syndrome.
    • Multiple Pterygium Syndrome Orphanet
      A group of rare genetic disorders characterized by the presence of joint contractures and multiple soft tissue webs (pterygia) across the neck and various joints, as well as typical facial appearance and a variety of other congenital anomalies. Both lethal (lethal and X-linked lethal multiple pterygium syndrome) and non-lethal (autosomal recessive and autosomal dominant multiple pterygium syndrome) forms occur.
    • Autosomal Recessive Multiple Pterygium Syndrome Orphanet
      A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital pterygia (webbing) mainly affecting the neck and large joints, arthrogryposis multiplex, short stature, and craniofacial dysmorphism (including ptosis, downslanting palpebral fissures, high-arched palate, and retrognathia). Additional manifestations are decreased movements, facial weakness, respiratory distress, vertebral anomalies, scoliosis, anomalies of the fingers, and cryptorchidism, among others. The disease is a non-lethal variant of multiple pterygium syndrome.
    • Multiple Pterygium Syndrome Escobar Type Gard
      Multiple pterygium syndrome, Escobar type is characterized by webbing of skin (pterygium) and a lack of muscle movement (akinesia) that occur before birth. The pterygium typically affect the neck, fingers, elbows, and/or knees. Individuals with multiple pterygium syndrome, Escobar type may also develop a restriction of the joints, known as arthrogryposis, a sideways curve of the spine (scoliosis), and distinctive facial features. Males with this condition can have undescended testes (cryptorchidism). Mutations in the CHRNG gene cause most cases of this disorder. It tends to be inherited in an autosomal recessive fashion.
  • Spasmodic Dysphonia Wikipedia
    In muscle tension dysphonia, the vocal folds are typically hyperadducted in constant way, not in a spasmodic way. [28] Additionally, the voice difficulties found in spasmodic dysphonia can be task specific, as opposed to those found in muscle tension dysphonia. [28] Being able to differentiate between muscle tension dysphonia and spasmodic dysphonia is important because muscle tension dysphonia typically responds well to behavioural voice treatment but spasmodic dysphonia does not. [28] [26] This is crucial to avoid providing inappropriate treatment, but in some cases a trial of behavioural voice treatment can also be helpful to establish a differential diagnosis. [28] Spasmodic dysphonia can also be misdiagnosed as voice tremor. [28] The movements that are found in this disorder are typically rhythmic in nature, as opposed to the muscle spasms of spasmodic dysphonia. [26] It is important to note that voice tremor and spasmodic dysphonia can co-occur in some patients. [26] Differential diagnosis is particularly important for determining appropriate interventions, as the type and cause of the disorder determine the most effective treatment. [26] Differences in treatment effectiveness are present even between the types of spasmodic dysphonia. [26] Diagnosis of spasmodic dysphonia is often delayed due to these challenges, which in turn presents difficulties in choosing the proper interventions. [26] [27] Types [ edit ] The three types of spasmodic dysphonia (SD) are adductor spasmodic dysphonia, abductor spasmodic dysphonia, and mixed spasmodic dysphonia. ... "Spasmodic dysphonia: let's look at that again". Journal of Voice . 28 (6): 694–9. doi : 10.1016/j.jvoice.2014.03.007 . ... "Spasmodic dysphonia: let's look at that again". Journal of Voice . 28 (6): 694–9. doi : 10.1016/j.jvoice.2014.03.007 . ... "Stress and distress in non-organic voice disorder". Swiss Medical Weekly . 135 (27–28): 387–97. PMID 16220409 . ^ Ann Otol Rhinol Laryngol. 2001 Oct;110(10):941–5. ^ Spasmodic Dysphonia is a Neurological Disorder Current Evidence and References Archived 2011-02-06 at the Wayback Machine , by Christy L. ... Archived (PDF) from the original on 2012-05-31. ^ Warner TT, Bressman SB (2007-12-28). Clinical Diagnosis and Management of Dystonia .
    • Spasmodic Dysphonia Gard
      Spasmodic dysphonia is a disease caused by involuntary movements of one or more muscles of the voice box ( larynx ). Signs and symptoms may range from occasional difficulty saying a word or two to substantial difficulty speaking that interferes with communication. Spasmodic dysphonia causes the voice to have a tight, strained, or strangled quality. While the cause of spasmodic dysphonia is unknown, some researchers think it might be caused by problems with the basal ganglia in the brain. Some cases of spasmodic dysphonia occur along with other diseases that affect the nervous system such as movement disorders.
  • Hepatitis C Wikipedia
    Late relapses after apparent cure have been reported, but these can be difficult to distinguish from reinfection. [25] Fatty changes to the liver occur in about half of those infected and are usually present before cirrhosis develops. [26] [27] Usually (80% of the time) this change affects less than a third of the liver. [26] Worldwide hepatitis C is the cause of 27% of cirrhosis cases and 25% of hepatocellular carcinoma. [28] About 10–30% of those infected develop cirrhosis over 30 years. [5] [19] Cirrhosis is more common in those also infected with hepatitis B , schistosoma , or HIV, in alcoholics and in those of male sex. [19] In those with hepatitis C, excess alcohol increases the risk of developing cirrhosis 5-fold. [29] Those who develop cirrhosis have a 20-fold greater risk of hepatocellular carcinoma . ... In the United States, about 70% of cases are caused by genotype 1, 20% by genotype 2 and about 1% by each of the other genotypes. [19] Genotype 1 is also the most common in South America and Europe. [5] The half life of the virus particles in the serum is around 3 hours and may be as short as 45 minutes. [54] [55] In an infected person, about 10 12 virus particles are produced each day. [54] In addition to replicating in the liver the virus can multiply in lymphocytes. [56] Transmission [ edit ] Hepatitis C infection in the United States by source Generally, percutaneous contact with contaminated blood is responsible for most infections; however, the method of transmission is strongly dependent on both a country’s geography and economic status. [57] Indeed, the primary route of transmission in the developed world is injection drug use , while in the developing world the main methods are blood transfusions and unsafe medical procedures. [3] The cause of transmission remains unknown in 20% of cases; [58] however, many of these are believed to be accounted for by injection drug use. [18] Drug use [ edit ] Injection drug use (IDU) is a major risk factor for hepatitis C in many parts of the world. [59] Of 77 countries reviewed, 25 (including the United States) were found to have a prevalence of hepatitis C of between 60% and 80% among people who use injection drugs. [21] [59] Twelve countries had rates greater than 80%. [21] It is believed that ten million intravenous drug users are infected with hepatitis C ; China (1.6 million), the United States (1.5 million), and Russia (1.3 million) have the highest absolute totals. [21] Occurrence of hepatitis C among prison inmates in the United States is 10 to 20 times that of the occurrence observed in the general population; this has been attributed to high-risk behavior in prisons such as IDU and tattooing with nonsterile equipment. [60] [61] Shared intranasal drug use may also be a risk factor. [62] Healthcare exposure [ edit ] Blood transfusion , transfusion of blood products, or organ transplants without HCV screening carry significant risks of infection. [19] The United States instituted universal screening in 1992 [63] and Canada instituted universal screening in 1990. [64] This decreased the risk from one in 200 units [63] to between one in 10,000 to one in 10,000,000 per unit of blood. [18] [58] This low risk remains as there is a period of about 11–70 days between the potential blood donor 's acquiring hepatitis C and the blood's testing positive depending on the method. [58] Some countries do not screen for hepatitis C due to the cost. [28] Those who have experienced a needle stick injury from someone who was HCV positive have about a 1.8% chance of subsequently contracting the disease themselves. [19] The risk is greater if the needle in question is hollow and the puncture wound is deep. [28] There is a risk from mucosal exposures to blood, but this risk is low, and there is no risk if blood exposure occurs on intact skin. [28] Hospital equipment has also been documented as a method of transmission of hepatitis C , including reuse of needles and syringes; multiple-use medication vials; infusion bags; and improperly sterilized surgical equipment, among others. [28] Limitations in the implementation and enforcement of stringent standard precautions in public and private medical and dental facilities are known to be the primary cause of the spread of HCV in Egypt , the country with highest rate of infection in the world. [65] Sexual intercourse [ edit ] Sexual transmission of hepatitis C is uncommon. [12] Studies examining the risk of HCV transmission between heterosexual partners, when one is infected and the other is not, have found very low risks. [12] Sexual practices that involve higher levels of trauma to the anogenital mucosa, such as anal penetrative sex , or that occur when there is a concurrent sexually transmitted infection , including HIV or genital ulceration , present greater risks. [12] [66] The United States Department of Veterans Affairs recommends condom use to prevent hepatitis C transmission in those with multiple partners, but not those in relationships that involve only a single partner. [67] Body modification [ edit ] Tattooing is associated with two to threefold increased risk of hepatitis C . [68] This can be due to either improperly sterilized equipment or contamination of the dyes being used. [68] Tattoos or piercings performed either before the mid-1980s, "underground", or nonprofessionally are of particular concern, since sterile techniques in such settings may be lacking. ... Please update this article to reflect recent events or newly available information. ( July 2020 ) See also: List of people with hepatitis C World Hepatitis Day , held on July 28, is coordinated by the World Hepatitis Alliance. [139] The economic costs of hepatitis C are significant both to the individual and to society. ... Centers for Disease Control and Prevention . Retrieved 28 September 2020 . ^ a b c Ryan KJ, Ray CG, eds. (2004). ... World Journal of Gastroenterology . 15 (28): 3462–71. doi : 10.3748/wjg.15.3462 .
    IFNG, IFNA2, CD81, IFNL3, HFE, DDX58, SCARB1, CCR5, CYP2A6, CYP3A4, LPL, PTPRC, LOXL2, OPRM1, LOX, MIR181C, IFNL4, MERTK, RTN4, ARG1, GPR158, PIK3CA, KIR3DL1, PLAAT4, GEM, VEGFA, RAF1, MAVS, BRD4, PIK3CB, PIK3CD, PIK3CG, KIAA1549L, ITPA, KIR2DL3, CDKN2A, SERPINB6, ERVW-1, SOCS3, CAV3, IFNL1, LDLR, CCL5, SDK2, CD14, GPT, CXCR3, MIR7-3HG, TNFSF10, CBLIF, HAMP, HSF4, SOCS1, CDKN1A, ARHGAP26, KRAS, TLR7, CLDN7, IRF3, VIPR1, EIF2AK2, MIR21, CXCL8, IL7R, TGFB1, SPP1, IL6, IL4, IL2, EGFR, IL1B, CD274, SERPINA13P, EPO, MIR122, IFNB1, FBL, STAT3, F2, RBM45, IFNA13, STAT1, PTGS2, MAPK1, IL10, PKIB, PTPN11, VDR, ARTN, SLC17A5, UBE2B, CTAA1, CTLA4, CTNNB1, CXCL10, GGTLC1, AGO2, FOXP3, PPARA, SOAT1, IL18, TP53, PPIA, TNF, TLR4, TLR3, TLR2, IL22, SPATA16, IFNA1, BMPER, OAS1, GLT8D2, LNPEP, CCL4, AFP, NCAM2, CCL2, ADIPOQ, MX1, ERVK-32, AGRP, IFNL2, OCLN, HLA-B, MICA, HLA-A, ERVK-20, RIT2, ALB, RNF7, BCL2, BRD2, HLA-C, HMOX1, NFE2L2, APOE, REXO1L1P, HLA-DRB1, FAS, RTEL1, CAP1, CLDN1, HLA-DQA1, NM, PAEP, ROBO3, SORBS1, ERVK-6, MBL2, LOC102724197, PNPLA3, HACD1, APOB, MTTP, OXTR, NR1D2, CYP2D6, ISG15, CCL4L1, IVNS1ABP, NCAM1, APOA1, HAVCR2, CASP3, IRS1, ESR1, IL1A, CCL4L2, TICAM1, FASN, HLA-DQB1, PTEN, PI4KA, LEP, ISYNA1, TLR9, IFIH1, SLCO6A1, PDCD1, GSTK1, TLR8, MBL3P, TRBV20OR9-2, SOS1, PCSK9, AKT1, IRF7, IFNAR2, TRIM69, NOS2, CRP, DDX3X, ACTB, SRC, IL1RN, IL17A, EIF2S1, CYP2E1, PSME3, IL7, IL12B, NLRP3, IRF1, GGTLC5P, IL21, CD38, GGTLC3, COX8A, CD68, GGT1, EIF3A, CCR2, GGTLC4P, CDR3, ISG20, SQSTM1, GABPA, SERPINA1, GGT2, NS2, EGF, DNMT1, ABCB11, BID, IL2RA, HNF1A, KRT20, MS4A1, EIF2S3, CXCL11, SIRT1, HLA-G, MIR155, TBK1, KIR2DS2, CD209, COX2, IFNAR1, TM6SF2, EIF2S2, SSB, LGALS3BP, CHP1, GOLM1, MTCO2P12, CASP1, CYP2B6, G6PC, KHDRBS1, MTOR, PPIP5K1, SLC12A9, IFNLR1, SOD2, ITIH4, HM13, SMIM1, CXCL12, IGH, LGALS9, USP18, NUP62, HNF4A, LINC02605, HLA-DPB1, CNBP, HSP90B1, UROD, FCGR3B, FCGR3A, EPHB2, HAVCR1, ADAR, MTHFR, MMP9, LIPA, NFKB1, SLC4A1, SEC14L2, DHCR24, IL15, HPGDS, VIM, DCTN4, CCND1, SERPINE1, GOLPH3, LTA, GTF2H1, MIP, DEPDC5, KIR2DL2, NTSR1, THPO, ICAM1, CLTC, TBX21, DPP4, MYC, APC, MAPK8, TERT, CD163, GAK, NRSN1, FOXO1, SCD, GZMB, HSP90AA1, FCN2, GAPDH, SDC1, EMB, HRAS, IL27, SLC2A2, HGF, RNASEL, GDE1, SREBF1, IFIT1, LINC01672, C1QBP, AAK1, CD9, CD19, CD27, CD28, CD86, MIR146A, CD40LG, LAG3, CD69, DGAT1, KRT18, ABCB1, KIR3DS1, TPPP, LSAMP, NR0B2, ATG5, MRC1, ACACA, H3P19, MPO, MT1B, PLIN2, LOC110806263, LOC107987479, AHR, CXCL9, CD99, PLIN3, BMS1, TMED2, SMOC1, CHI3L1, CD40, PPARG, MAPK14, IGF2, WDR11, SLC29A1, MAPK3, PPP2R3B, RETN, TNFRSF1A, MIR223, MIR27A, BOC, RSAD2, LAMP3, HLA-DRB3, IL17D, CPT1A, JUN, JAK1, AICDA, PI4KB, MCL1, NF2, MDM2, MFAP1, UBASH3B, IL10RB, UGT1A7, SMAD7, MMP1, IGHG3, HLA-E, MBOAT7, CYP2R1, KIR3DL2, PTBP1, HSPA8, SMYD3, SMAD3, PRDM6, PDIK1L, IRF2, PTBP2, INSRR, TRIM27, PCBP2, LEPR, OSBP, IRF5, LAMP1, IDO1, POMC, KIR2DS1, PELI1, OAS2, PPIB, MAP1LC3B, RAB5A, FAM107B, RRM2, CABIN1, POLDIP2, RNF19A, XRCC1, TRIM25, AIMP2, SLC14A2, HCC, CRK, AP2M1, MCF2L, CEBPB, UCA1, CDSN, CDKN2B, VTN, MIR373, GBF1, CYP2C9, TIMP1, MIR215, TLL1, DDOST, MIR221, CYP27B1, IL37, USF1, CYP1A1, TRAF6, CUX1, TRIO, CCN2, UBE3A, CDH1, KLRK1, TGFBR1, ABCD1, APOC1, APOA2, ANXA6, ANGPT2, ERVK-19, AHSA1, CLEC4M, APRT, AGT, IFI44, ATG7, ACTG1, RACK1, ABO, MASP2, SUB1, PER2, GRAP2, CAT, CASP8, CLDN6, SLC28A2, DCLK1, VAPA, NCR1, BTG3, BCL6, ERVK-9, APOBEC3B, BACH1, ATM, SART3, MIR200C, CR2, TGFB2, GP2, EPHA3, EPHX1, IL23A, GSK3B, FN1, UTS2R, STAT5B, STAT5A, ESR2, TAP2, STAT2, GPC3, MIR130A, MIR125A, GCG, NOX4, IFI6, FOXO3, TAP1, ERBB2, MIR182, ATN1, TAPBP, TAT, EIF4A2, EIF4A1, S100A9, DCAF1, EIF5B, GDF15, SELENOP, RB1, UGT1A1, PPP1R12C, SET, RXRA, TNFRSF11B, SRSF4, SEMA4D, EIF2AK3, NDRG1, ABCG2, SHBG, CREB3, ADAMTS13, HERC5, WDHD1, RTN1, SLC25A1, CBFA2T2, DCTN3, RMDN1, HDAC9, NPC1, DDX56, NHS, DHX58, XRN1, MYD88, SERPINB3, SRL, CCL3, NCL, FUNDC2, IGF2BP1, SAA1, TNFSF13B, NR1H3, CCL8, HCP5, CCL14, ABCB6, S100B, MUC1, TRIM22, NME1, IRF9, NOTCH1, RNH1, CCL27, HPSE, MRPL28, SLPI, ATG14, HSPB3, XBP1, ATRNL1, CLIP1, RMDN3, PLAU, CLIP2, VWF, NAT10, PTPN22, RACGAP1, PSMB8, SUMO1, SYBU, AKR1B10, TNFSF4, NXT1, B3GAT1, TPT1, TPMT, TP73, PDLIM3, TNFRSF1B, TCF7L2, TERC, PPP2CA, MYDGF, TJP1, TIMP2, TFRC, PKN2, PIK3R2, PIK3R1, IGAN1, CXCR4, PHB2, ARHGEF7, APOBEC3G, NR1I2, PCBD1, CDK5R1, TGFA, TNFRSF10A, SPINT1, MBTPS1, BECN1, ENPP2, MARCHF1, PGF, SEMA6A, OASL, USO1, ATG16L1, MSH2, KIDINS220, PIAS1, PMPCA, AP3B1, SREBF2, PPP1R13B, ULK1, SLC40A1, ST14, STAT4, TNFAIP8L2, H3P10, ERN1, FOSB, FLNB, FLNA, FGL1, FBN2, FAP, PTK2B, MIR145, F5, EXT1, ETFA, MIR148A, MIR150, MIR152, EIF4G1, EIF4EBP1, EPHA2, MIR196A1, SLC26A3, DNMT3B, DYNC1H1, SARDH, DHCR7, DECR1, DDIT3, DDB1, DCX, ACE, FOS, FPR2, IGF1, FTH1, IFNA6, IFI27, HSPA5, HPS1, HJV, RMDN2, FOXA2, HFM1, TENT2, HMGB1, HLA-DRB4, ARID2, HLA-DOB, TIGIT, HK2, HINT1, NCR3, GUSB, ASPM, GSTT1, GSTM1, CXCL1, GPX2, GPX1, GLP1R, GLI3, GC, DCC, MIR222, MIR224, MIR26B, CD80, CCNG1, ZGLP1, KRIT1, CASP9, CALM3, CALM2, CALM1, MIR208B, H3P36, KLRC4-KLRK1, BCHE, AXL, ATHS, ERVK-11, ARNTL, ARF4, MYMX, FASLG, APOH, APOC3, APCS, ANXA2, ALPP, ALDH2, AGA, H3P9, CD34, CD36, CD44, KIR2DL5B, CYP2D7, CYP2C19, CYP1A2, MIR30A, MIR34A, CSF3, CSF2, MIR196B, CRHR2, CREM, ATF2, CR1, KLF6, POTEF, MIR499A, CNR1, ABCC2, CCR6, CCR3, MIR483, CISH, CKB, CHUK, CES1, CDKN1B, CDC42, IFNGR2, NXF1, LGALS1, POLDIP3, EHMT1, NTPCR, JUNB, CAMKMT, JUND, MICB, SARNP, CXCR2, IRAK1, IL10RA, CD82, ARHGAP24, NANOG, KLRB1, KRT7, NT5C1A, TACSTD2, EPCAM, IL12A, KLRC1, ASRGL1, IL13, KLRD1, ILF3, MTG1, MLH1, KRT19, MCM7, LBR, MAGEA3, MNAT1, LIPE, TSLP, MMP2, LIG4, ITGA2B, ITGA2, MME, ITGAX, LBP, MCM2, LPAL2, EIF2A, MIR758, FAM72A, RNA28SN5, PRB2, KIF1B, FAM72B, HHIP, TBC1D9, H3P38, TPX2, ERC1, CARD8, GORASP1, APOL3, MIR636, MPIG6B, DKK1, NORAD, RAB18, YTHDC2, MMRN1, KRT8P3, KDM1A, MIR629, MIR619, SMG1, CNOT1, SETD7, QPRT, POU5F1P4, COP1, MIR146B, SHC2, FBXL2, PART1, MIR511, MIR491, SLC28A3, KRT23, SESN2, MIR425, MIR375, LDLRAP1, ERVK-7, PHGDH, GAS5, MIXL1, MIR345, MIR335, IL1RAPL2, BCL2L12, MIR494, IFIT5, ERVK-8, ARHGEF9, SMIM10L2B, LARP1, NUAK2, GPR161, POU5F1P3, PDCD1LG2, TRIM56, MIR503, FKBP8, RAB1B, SMOC2, MIR501, FCRL4, CD2AP, PPP1R15A, RILP, OSBP2, XRN2, ATF7IP, GABARAP, PARTICL, CXCR6, CD226, DCTN6, LOC102724971, EBP, LOC102723407, PTGES3, KDM5B, MAPKAP1, SEMA3B-AS1, PPARGC1A, FTO, SAMMSON, STARD3, GGCT, TOMM34, LPCAT1, ERVK-24, ERVK-25, HEIH, ERVK-18, CELF1, UPK3B, SPINT2, NLRX1, H3P11, H3P28, H3P24, CIB1, H3P23, H3P17, H3P8, H3P13, ZNRD2, MCS+9.7, SUV39H2, CXCL13, RN7SL263P, CREST2, PDLIM5, ERLIN1, PDPN, CREST1, RAD51AP1, CERNA3, RAB40B, ZC3H12A, HOTAIR, EBNA1BP2, EDEM3, CASC11, RASSF1, CD24, SYCE1L, RNF139, SOD2-OT1, PACSIN2, EGOT, ULBP1, UBE2Z, WNK1, ACD, MIR885, SNF8, PINK1, GALNT8, MIR216B, SLCO2B1, MIR147B, CD300A, NUDT3, SLC7A9, BTN3A2, RPL17-C18orf32, ERVK-21, TMED10, RAB32, IMMT, ERVK-10, SLC27A4, SLC27A2, APOC4-APOC2, IL24, GTF2A1L, RPP14, LY75-CD302, MIR3648-1, STON1, TMED7-TICAM2, PIM2, MIR1304, MIR1231, MIR1247, H3P20, MIR942, MIR30B, HSPB8, BCCIP, SPECC1, PTF1A, CASC2, NEIL2, AZIN1, RBM24, NEURL3, SF3B6, MED19, CRTC2, UGGT1, PPIL1, GHRL, CD244, CTNNBL1, ERAP1, IGSF8, CLEC4C, ZFYVE1, SLC30A8, ZC3HAV1, ARNTL2, LIX1, CHPT1, GLTP, UNC5A, MARCHF2, STING1, ARMH1, RAB7B, IFNE, STON1-GTF2A1L, PLA1A, CRLF3, OR10A4, DDX41, TMED10P1, UBE2J1, CAVIN1, DCDC2, MTDH, NCKIPSD, CINP, CMC2, POLE3, APOM, PLIN5, CARD16, NCOA7, CD200R1, AP1S3, TDP1, MED9, TAF8, WRAP53, IFT122, TBC1D20, ARL8B, TMEM132A, HHAT, ADI1, CYCSP25, FBXW7, DDX19A, LAPTM4B, IMPACT, OSBPL1A, VAC14, TUG1, UCKL1, HDAC8, FEV, TREM1, USE1, BTLA, SMOX, PLB1, IL23R, CAVIN3, APCDD1, CRLS1, IL17F, ODR4, CD300LF, VTI1A, AHI1, RSS, DYM, SIDT1, NSUN2, RNF125, CDCA5, HSD17B13, GP6, IRGM, MIR204, TNRC6A, UBE2S, MAP1LC3A, TRIB3, MIR217, MIR216A, SGSM3, SPG16, TNRC6C, KLHL1, MIR25, IGHV4-59, IGHV3-52, MIR200B, ZGPAT, MIR200A, IGHV1-69, IGHV1-3, MIR20A, IGKV3-20, ZNF410, TNFRSF21, TICAM2, SND1, MIR99A, MIR98, MIR93, AGO1, IL36RN, MIR34B, HBP1, HPSE2, ATP2C1, PGLYRP2, VPS4A, KAT8, MIR301A, MIR29B2, MIR29B1, MIR29A, NAAA, MIR27B, ASCC2, SCAF1, MIR19A, RPTOR, MIR192, IGK, MIRLET7G, MIRLET7C, MIRLET7B, IL20, LINC01194, MYO18A, KIR2DL5A, SALL4, SMIM10L2A, TRAT1, MIR188, WNT3A, TMED5, TMED7, HDDC2, NDUFA13, KMT5AP1, CHCHD2, JPT1, TBPL2, MIR101-1, MIR126, DNAJC5B, ITPRIP, LAMTOR2, MIR185, DGAT2, MRPS18B, FLVCR1, MIR17, PYCARD, BRD7, CREB3L3, MIR149, NPC1L1, SPSB2, NEIL1, ALG10, MIR136, HILPDA, IL19, MIR134, MIR130B, EFL1, SERPINA3, TOMM40, HMOX2, HMGCS1, HMGCR, HMBS, MR1, HLA-F, HLF, HLA-DQA2, HLA-DPA1, HLA-DOA, HLA-DMA, NRG1, HDAC1, HTT, HARS1, HADHA, HMGCS2, SLC29A2, F9, HNRNPC, ICAM3, TNC, HTR6, HTC2, HSPG2, HSPB2, HSPB1, HSPA4, HSPA1B, AGFG1, HPCAL1, HP, HNRNPL, HNRNPK, HNRNPD, HABP2, H1-5, GZMH, GUCY1B1, FUT1, FPR1, FLT1, FOXC1, FKBP5, FKBP4, FHIT, FCGR2B, FCGR2A, FCGR1A, FCAR, FBP1, FAT1, ACSL3, FABP2, FUT8, ACKR1, XRCC6, GNB3, GSTP1, GSTM2, PDIA3, GRB2, GOT2, GOT1, GFRA1, GAP43, GFER, GFAP, GCKR, GCHFR, GBP1, GAS6, ID2, IFNA4, IFNGR1, LCK, SMAD4, SMAD2, SMAD1, MXD1, SH2D1A, LY75, LY9, LUM, LTF, LTBP2, CYP4F3, LPA, LMO1, LIF, LGALS4, SMAD6, MAFD2, MAGEA4, MIF, MSH3, ABCC1, MPG, MMP14, MAP3K11, MKI67, MFGE8, MATK, MET, MEFV, MDM4, MCM6, MCM3, MBP, LGALS3, STMN1, IGFALS, RPSA, ING2, IMPDH2, ILF2, TNFRSF9, IL16, IL15RA, IL11, IL9, IL6ST, IL6R, IL1R1, IGFBP7, IGFBP4, IGFBP3, IGFBP1, INPPL1, INSR, IRAK2, KIT, LAIR1, KRT14, KRT8, TNPO1, KPNA1, KLRC2, KIR2DS4, ITGAE, KIR2DS3, ITPR3, EIF6, ITGB1, ITGAM, ITGAL, FABP1, F2R, MYCN, CAPN5, SERPING1, TSPO, BTN1A1, BTF3P11, BST2, BRCA1, BMPR2, BMP6, BMP3, BMP2, BLVRA, CXCR5, OPN1SW, BCL9, BCL2L1, C3, VPS51, ERCC2, CA2, TNFRSF8, CD8B, CD8A, CD5, CD1D, CD1C, CCND2, CCNA2, CBLB, RUNX3, CAV1, CASP7, CAD, SLC25A20, DDR1, BCL2A1, B2M, AVP, ATP6V1G2, AKT2, AIF1, AHCY, AGL, AFM, ADH4, ADH1B, ADH1A, ADA, ACVRL1, ACTA1, ACP2, ACR, ACAT2, ACAT1, ALAS1, AKR1B1, AMPD1, ARF5, ALDH7A1, ATP4A, ATP12A, RERE, ATF4, STS, ARF1, ANGPT1, ABCC6, APOC4, APOC2, APEX1, APAF1, ANXA1, CD33, CD58, CD63, NCAN, DFFA, DHX9, DDX6, DAPK3, DAPK1, CD55, CYP27A1, CYP24A1, CYP17A1, CYP3A5, CYP2C18, CYP2A7, CYBA, CX3CR1, CTSS, NQO1, DIAPH2, DNASE1, EIF4E, STX2, EP300, ENG, ELF1, ELAVL1, ELANE, EFNA4, DPYD, EIF2D, EDNRB, EDNRA, E2F1, DUSP6, DUSP1, CTSB, VCAN, CDA, CSNK1G3, CCR1, CMD1B, CLU, CLCN5, CIRBP, CHIT1, CEL, CECR, CEBPA, CDKN3, CDKN2D, CDKN2C, CDK4, CDK11B, CDK1, CCR7, CNR2, COMT, CRY2, CSNK1G2, CSNK1D, CSNK1A1, CSK, CRYZ, CRYGD, CRY1, CPE, CREB1, CRABP2, CRABP1, CPT2, CPS1, CLDN4, MT2A, GADD45B, IFITM3, ARHGEF5, DDX39B, RAB7A, MAPKAPK3, IL1R2, DNALI1, ZNF185, ZAP70, YWHAZ, XRCC5, XRCC3, WRN, WNT5A, WNT1, WEE1, WAS, NELFE, USP11, STAU1, BAP1, ABCC3, PEA15, IRS2, NUMB, AOC3, TP63, PLA2G4C, MAPKAPK5, IFITM1, OGT, DHX16, DUSP11, CAVIN2, RECK, STX7, VRK1, VLDLR, VCP, UGT1A, TM7SF2, TIMP4, THOP1, THBS1, TGM2, TFR2, TFF3, TERF2, TBP, ADAM17, SYT1, SYK, SURF4, SULT2A1, STX4, TMSB4X, TNFAIP6, TOP1, TWIST1, SLC35A2, UCHL1, UBA7, UBC, TYK2, TXN, TULP1, TOP2A, TRPC5, HSP90B2P, TRAF2, TPR, TPO, TOP3A, TNFRSF25, RIOK3, TNFRSF10B, TOX, BCAP31, OPTN, LRPPRC, ENAM, IL18BP, HNRNPDL, NR1I3, MVP, USP15, MFN2, DDX46, FARP2, TRIM14, SPATA2, RAPGEF5, G3BP1, TNK2, DDX39A, AKR1A1, CPQ, NDC80, PIAS3, BTN3A3, TUBA1B, TLR6, CRISP3, KLRG1, LANCL1, RTN3, SIGMAR1, CDK2AP2, IGSF6, RABEPK, PCLAF, EDEM1, IL1RL2, SDC3, ARHGEF2, HGS, FCGR2C, PIAS2, CH25H, RAB29, TIMELESS, DDX18, FUBP1, IER3, PER3, PROM1, HDAC3, NRP2, CES2, AURKB, VAPB, IL32, GGPS1, SEC24C, PITPNM1, RBM39, CLOCK, GOSR1, TBPL1, GSTO1, AIMP1, NTN1, TGFBRAP1, ZFYVE9, PPIG, GPR55, PDLIM7, AURKA, STAT6, MYLK, PRH1, PREP, PPM1A, PPARD, POU5F1, POU2F1, PON1, POLRMT, PMS2, PML, PLXNB1, PLIN1, PLEK, PLA2G1B, PKM, PITX1, PRF1, PRH2, ST13, PRIM2, PSMD9, PSMD7, PSMD3, KLK10, RELN, MASP1, PRSS3, PRSS1, PROC, PRNP, PRL, DNAJC3, MAP2K7, MAP2K1, PRKAA1, PIK3C3, PIK3C2B, PHB, ABCB4, ODC1, OAS3, NRDC, NRAS, NPPB, NPM1, NOTCH4, NOTCH2, NOS3, NFKBIL1, NFKBIE, NFKBIB, NFKB2, NEK2, NAP1L1, OGG1, SIX6, P2RX4, ENPP1, PGGT1B, PF4, PER1, PECAM1, PDZK1, PDR, PCYT1A, P2RX7, PCNA, PCK2, PAX5, PRKN, PAK3, PAK2, PSMD10, PTH, PTPN2, CCL17, SLC10A1, SLC6A12, SLC6A4, SLC3A2, PMEL, SRSF5, SFRP2, SFRP1, SEL1L, SDHC, SDC4, SDC2, CX3CL1, CCL22, CCL21, SLC12A3, SLCO1A2, SLC22A1, SP1, SST, TRIM21, SRY, SRD5A2, SPRR2A, SPINK1, SOX2, SMARCA2, ABCA1, SNRPD1, SNCA, SIGLEC1, SMN2, SMN1, CCL20, CCL3L1, PTPN6, SERPINB4, RELA, REG1A, RBP4, RBL1, RASGRF2, RARA, RAD51, RAD23B, RAD21, RAB6A, RAB1A, PXN, PVT1, PTX3, PTPN7, REN, RENBP, RHEB, RPS4X, SAG, S100A1, RRAS, RPS27A, RPS6KA3, RPS6, RPL17, RNASE1, ROS1, RORC, RORA, ROBO1, RNASE4, RNASE3, SOD1
    • Hepatitis C Mayo_clinic
      Overview Hepatitis C is a viral infection that causes liver inflammation, sometimes leading to serious liver damage. The hepatitis C virus (HCV) spreads through contaminated blood. Until recently, hepatitis C treatment required weekly injections and oral medications that many HCV -infected people couldn't take because of other health problems or unacceptable side effects. That's changing. Today, chronic HCV is usually curable with oral medications taken every day for two to six months. Still, about half of people with HCV don't know they're infected, mainly because they have no symptoms, which can take decades to appear. For that reason, the U.S. Preventive Services Task Force recommends that all adults ages 18 to 79 years be screened for hepatitis C, even those without symptoms or known liver disease.
  • Vaping-Associated Pulmonary Injury Wikipedia
    ., cardiac, gastrointestinal, rheumatologic, neoplastic, environmental, or occupational exposures, or causes of acute respiratory distress syndrome ) as suggested by clinical presentation and medical history, while also considering multiple etiologies, including the possibility of VAPI occurring with a concomitant infection. [2] All healthcare providers evaluating patients for VAPI should consider obtaining a thorough patient history, including symptoms and recent use of e-cigarette, or vaping, products, along with substances used, duration and frequency of use, and method of use. [2] Additionally a detailed physical examination should be performed, specifically including vital signs and pulse- oximetry . [2] Laboratory testing guided by clinical findings, which may include a respiratory virus panel to rule out infectious diseases, complete blood count with differential, serum inflammatory markers ( C-reactive protein [CRP], erythrocyte sedimentation rate [ESR]), liver transaminases , and urine toxicology testing, including testing for THC should be acquired. [2] Imaging, typically a chest X-ray , with consideration for a chest CT if chest X-ray results do not correlate with the clinical picture or to evaluate severe or worsening disease should be obtained. [2] Consulting with specialists (e.g. critical care, pulmonology, medical toxicology, or infectious disease) can help guide further evaluation. [2] The diagnosis is commonly suspected when the person does not respond to antibiotic therapy, and testing does not reveal an alternative diagnosis. [4] Many of the reported cases involved worsening respiratory failure within 48 hours of admission after the administration of empiric antibiotic therapy. [28] Lung biopsies are not necessary for the diagnosis but are performed as clinically indicated to rule out the likelihood of infection. [23] Bronchoalveolar lavage sample from a patient with acute lung injury associated with vaping, showing alveolar macrophages laden with vacuoles (A) and extensive lipid deposits (B). [28] There are non-specific laboratory abnormalities that have been reported in association with the disease, including elevations in white blood cell count (with neutrophilic predominance and absence of eosinophilia), transaminases, procalcitonin, and inflammatory markers. [4] [28] Infectious disease testing, including blood and sputum cultures and tests for influenza, Mycoplasma, and Legionella were all found to be negative in the majority of reported cases. [28] Imaging abnormalities are typically bilateral and are usually described as "pulmonary infiltrates or opacities" on chest X-ray and "ground-glass opacities" on chest CT. [4] Bronchoalveolar lavage specimens may exhibit an increased level of neutrophils in combination with lymphocytes and vacuole-laden macrophages. [15] Lavage cytology with oil red O staining demonstrated extensive lipid-laden alveolar macrophages . [28] [29] In the few cases in which lung biopsies were performed, the results were consistent with acute lung injury and included a broad range of features, such as acute fibrinous pneumonitis, diffuse alveolar damage, lipid-laden macrophages, and organizing pneumonia. [17] [23] Lung biopsies often showed neutrophil predominance as well, with rare eosinophils. [24] Case definitions [ edit ] Based on the clinical characteristics of VAPI [a] cases from ongoing federal and state investigations, interim surveillance case definitions for confirmed and probable cases have been developed. [2] The CDC surveillance case definition for confirmed cases of severe pulmonary disease associated with e-cigarette use: [30] Using an e-cigarette ("vaping") or dabbing during the 90 days before symptom onset AND [30] Pulmonary infiltrate, such as opacities on plain film chest radiograph or ground-glass opacities on chest computed tomography AND [30] Absence of pulmonary infection on initial work-up. ... Research into the effectiveness of this approach is still incomplete. [34] [35] [36] [37] [38] [39] Epidemiology [ edit ] See also: Hospitalized cases in the vaping lung illness outbreak An outbreak of vaping-related lung injuries in 2019 and 2020 has mainly affected young people, [40] primarily in the United States. [41] As of February 4, 2020 [update] , there have been 2,758 cases of VAPI [a] reported from all 50 states, the District of Columbia, Puerto Rico, and the US Virgin Islands. [3] The CDC has received complete gender and age data on these cases with 70% of cases being male. [3] The median age of cases is 24 years and ranges from 13 to 85 years. [3] 79% of cases are under 35 years old. [3] There have been 64 confirmed deaths in 28 states and the District of Columbia from this outbreak ranging from ages 15–75 years old. [3] Of the 2,051 cases reported to the CDC, information on substance use is known for 867 cases in the three months prior to symptom onset as of October 15, 2019. [3] About 86% reported using THC-containing products; 34% reported exclusive use of THC-containing products. [3] About 64% reported using nicotine-containing products; 11% reported exclusive use of nicotine-containing products. [3] On September 28, 2019, the first case of vaping-associated pulmonary injury was identified in Canada. [42] A number of other probable cases have been reported in British Columbia and New Brunswick as of October 2019. [43] In September 2019, a US Insurance Journal article stated that at least 15 incidents of vaping related illnesses have been reported worldwide prior to 2019, occurring from Guam to Japan to the UK to the US. [44] 12 cases of health problems with nicotine-containing e-cigarettes were reported to the UK's Medicines and Healthcare products Regulatory Agency (MHRA), with at least one case bearing high similarities to the lipid pneumonia cases reported in the US. [44] One lipoid pneumonia-related death in the UK was associated with e-cigarettes in 2010. [45] Medical officials in continental Europe have not reported any serious medical problems related to vaping products except one early case related to e-cigarettes documented in Northern Spain in 2015. ... California Department of Public Health . August 28, 2019. pp. 1–5. This article incorporates text from this source, which is in the public domain . ^ a b c d e f Henry TS, Kanne JP, Kligerman SJ (October 2019). ... Centers for Disease Control and Prevention (CDC). October 28, 2019. This article incorporates text from this source, which is in the public domain . ^ a b c Mukhopadhyay S, Mehrad M, Dammert P, Arrossi AV, Sarda R, Brenner DS, et al.
  • Mean Platelet Volume/count Quantitative Trait Locus 3 Omim
    In the combined sample of 10,048 individuals, the association of MPV with rs2138852 reached a p value of 7.19 x 10(-28). Gieger et al. (2011) performed metaanalyses of GWAS for MPV and PLT.
  • Hypertension, Essential, Susceptibility To, 5 Omim
    Using a specially designed approach in the analysis of biometric and biochemical covariate data from 2,044 sib pairs with severe hypertension collected by the British Genetics of Hypertension (BRIGHT) study, Wallace et al. (2006) found genomewide-significant evidence for linkage of hypertension to a 28-Mb region on chromosome 20q11-q13 when the body mass measures weight, BMI, and hip circumference were included in the analysis (minimum genomewide P = 0.002, maximum lod = 4.24).
  • Low Density Lipoprotein Cholesterol, Mild Elevation Of Omim
    This statistically inferred major gene accounted for 24% of the variation in LDLC, with polygenes accounting for another 28%. Using parameters for major gene transmission estimated in the segregation analysis, LDLC showed no linkage to the LDLR gene, the apolipoprotein E gene (APOE; 107741), or the cholesterol 7-alpha-hydroxylase gene (CYP7A1; 118455), indicating that the major gene effect influencing mild elevation in LDLC is not explained by any of these candidate loci.
  • Myopathy With Storage Of Glycoproteins And Glycosaminoglycans Omim
    Ionasescu et al. (1984) described mother and daughter, aged 28 and 5 years, respectively, who showed mild to moderate weakness and atrophy of facial and shoulder muscles with congenital onset and minimal progression.
  • Wildervanck Syndrome Wikipedia
    "Orphanet: Wildervanck syndrome" . www.orpha.net . Retrieved 28 April 2019 . ^ "OMIM Entry-314600 - WILDERVANCK SYNDROME" . ^ "Wildervanck Syndrome" . ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
    TBX5, SALL4
    • Wildervanck Syndrome Omim
      Clinical Features The Wildervanck syndrome consists of congenital perceptive deafness, Klippel-Feil anomaly (see 118100), and abducens palsy with retractio bulbi (Duane syndrome). The disorder is limited, or almost completely limited, to females, raising the question of sex-linked dominance with lethality in the hemizygous male. This syndrome (at least profound childhood deafness and Klippel-Feil malformation) may be responsible for at least 1% of deafness among females. The deafness is perceptive and has been shown by radiologic studies to be due to a bony malformation of the inner ear. Kirkham (1969) described a family which was affected through 5 generations with perceptive deafness and in which 2 members had Duane syndrome.
    • Wildervanck Syndrome Gard
      Wildervanck syndrome is a condition that affects the bones in the neck, the eyes, and the ears. It is characterized by Klippel-Feil anomaly (in which the bones of the neck fuse together), Duane syndrome (an eye movement disorder), and hearing loss. Wildervanck syndrome occurs primarily in females. In most cases, Wildervanck syndrome occurs randomly for unknown reasons in a family with no prior history (sporadically), though a deletion on the X chromosome was identified in one individual with Wildervanck syndrome. X-linked dominant inheritance has been suggested due to the high prevalence of affected females. Treatment is specific to each symptom and may include physical therapy, surgical intervention for skeletal, ocular, auditory, and cardiac abnormalities, and utilization of hearing aids.
    • Wildervanck Syndrome Orphanet
      Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly, see this term), bilateral abducens palsy with retracted eyes (Duane syndrome, see this term) and congenital perceptive deafness. Epidemiology It has been described in one family with affected members through 5 generations, almost exclusively females. Single additional sporadic cases have been reported. Clinical description Bilateral lens subluxation, facial paralysis, atrial septal defect, scoliosis, cholelithiasis have been found occasionally. Etiology The causative gene has not yet been identified. Genetic counseling Multifactorial inheritance is likely; sex-linked dominance with lethality in the hemizygous male has been discussed.
  • Phagophobia Wikipedia
    "Psychiatric aspects of swallowing disorders". Psychosomatics . 28 (11): 572–6. doi : 10.1016/S0033-3182(87)72455-4 .
  • Nullisomic Wikipedia
    (Eds), Williams Obstetrics, Twenty-Fourth Edition. Retrieved September 28, 2015 from http://accessmedicine.mhmedical.com/content.aspx?
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