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Body Mass Index Quantitative Trait Locus 14 Omim

Subsequent analysis confirmed the association in an additional 14,186 European individuals (combined p = 1.2 x 10(-28)). Renstrom et al. (2009) performed association studies between 9 SNPs from 9 target genes and adiposity and type 2 diabetes (125853) in 3,885 nondiabetic and 1,038 diabetic Swedish adults.

FTO
Split-Hand/foot Malformation 3 Omim

This observation supported a central role for dactylin in the pathogenesis of SHFM3. Kano et al. (2005) screened 28 Japanese families with nonsyndromic SHFM for tandem genomic duplication of chromosome 10q24 by Southern blot and sequence analysis of the dactylin gene.

DLX5, DLX6, TP63, SEM1, EPS15L1, BTRC, WNT10B, MAP3K20, BHLHA9, CDH3, FGFR1, UVRAG, MBTPS2, CKAP4, PLAA, WNT7A, RPE65, EEC1, SHFM3, INSIG2, RRDX, SHFM5, QTRT1, FGFR2, GLI2, IGF2, UGT8, TP53, JAG2, USP14, ANOS1, SNX3, MID1, RANGAP1, SHFM2, INHBB
- Split-Hand/foot Malformation 2 Omim
  
  Description Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals (Elliott and Evans, 2006). For additional phenotypic information and a discussion of genetic heterogeneity of split-hand/split-foot malformation, see SHFM1 (183600). Clinical Features Ahmad et al. (1987) described a Pakistani kindred in which 36 members in 7 generations had split-hand and split-foot anomaly. The full expression of the trait, monodactylous or split hand and split foot, mainly of the lobster-claw type, was present in 33 males and 3 females. Other females showed a distinctly milder expression of the trait, usually in the form of partial syndactyly, metacarpal and phalangeal hypoplasia, and malformation of the bones of the hand.
- Split-Hand/foot Malformation 6 Omim
  
  A number sign (#) is used with this entry because of evidence that split-hand/foot malformation-6 (SHFM6) is caused by homozygous mutation in the WNT10B gene (601906) on chromosome 12q13. Description Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting (Elliott and Evans, 2006). For a general phenotypic description and a discussion of genetic heterogeneity of split-hand/foot malformations, see SHFM1 (183600). Clinical Features Klein (1932) described a boy and girl with ectrodactyly who were born from the mating between a man and the daughter of his half brother.
- Split-Hand/foot Malformation 1 Omim
  
  In the first family, the only affected individual was a 28-month-old boy who was born with typical bilateral hand ectrodactyly involving aplasia of the middle finger.
- Split-Hand/foot Malformation 5 Omim
  
  Description Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM5 have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting (Elliott and Evans, 2006). For additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 (183600). Clinical Features Del Campo et al. (1999) reported 2 unrelated boys with deletions on chromosome 2 who showed a single bone in the zeugopod and monodactyly in the autopod of all 4 limbs, as well as penoscrotal hypoplasia and multiple other anomalies, including severe growth retardation, microcephaly, hypertelorism, microphthalmia, cleft palate, and low-set ears. Garcia-Ortiz et al. (2005) described 2 brothers, born of nonconsanguineous parents, with intrauterine growth retardation, short stature, distinctive facies, microphthalmia, unilateral split-hand malformation, hypoplastic fifth ray in both hands, small penis and testes, and hypospadias.
- Ectrodactyly Wikipedia
  
  Ferreira, a case of ectrodactyly was found in a two-month-old male mixed Terrier dog. [27] In another study, Carrig and co-workers also reported a series of 14 dogs [28] with this abnormality proving that although ectrodactyly is an uncommon occurrence for dogs, it is not entirely unheard of.
- Isolated Split Hand-Split Foot Malformation Orphanet
  
  A rare, congenital, bone development disorder characterized by a spectrum of terminal limb malformations including hypoplasia/absence of central rays of the hands and feet (that can occur in one to all four digits), variable degrees of median clefts of the hands and/or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/toe to a lobster claw-like appearance of the hands and feet. It can occur as an isolated malformation or it can be a feature in various syndromes.
- Split Hand Foot Malformation Gard
  
  Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause.
- Split-Hand/foot Malformation 4 Omim
  
  A number sign (#) is used with this entry because split-hand/foot malformation-4 (SHFM4) is caused by heterozygous mutation in the tumor protein p63 gene (TP63; 603273) on chromosome 3q28. Description Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM4 have been found to have mental retardation, ectodermal findings, and orofacial clefting (Elliott and Evans, 2006). For additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 (183600). Clinical Features Spranger and Schapera (1988) described an instructive South African family in which 3 unaffected sibs with normal parents had each produced affected offspring.
Brittle Cornea Syndrome 1 Omim

Al-Hussain et al. (2004) described 23 patients with brittle cornea syndrome from 13 Middle Eastern families (9 from Saudi Arabia, 2 from Syria, 1 from Jordan, and 1 from Yemen). A total of 28 events of corneal rupture were noted in 17 patients; 9 of these patients had bilateral ruptures.

ZNF469, PRDM5, BCS1L, FN1, SEC24D
- Brittle Cornea Syndrome 2 Omim
  
  A number sign (#) is used with this entry because of evidence that brittle cornea syndrome-2 (BCS2) is caused by homozygous mutation in the PRDM5 gene (614161) on chromosome 4q27. Description Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). For a discussion of genetic heterogeneity of brittle cornea syndrome, see BCS1 (229200). Clinical Features Cameron (1993) described 11 patients with blue sclerae, limbus-to-limbus corneal thinning, hypermobile joints, and consanguineous parents.
- Brittle Cornea Syndrome Orphanet
  
  A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.
- Brittle Cornea Syndrome Gard
  
  Brittle cornea syndrome (BCS ) is a genetic disease involving the connective tissue in the eyes, ears, joints, and skin. The symptoms of BCS typically involve thinning of the protective outer layer of the eye ( cornea ), which may lead to tearing or rupture after minor damage to the cornea. Other eye symptoms may include nearsightedness ( myopia ), a blueish tint in the white part of the eyes (blue sclera), and retinal detachment . Other symptoms may include hearing loss, abnormal positioning of the hip bones (hip dysplasia), and soft skin with abnormal scarring. There are 2 types of BCS. BCS type 1 is caused by changes (mutations) in the ZNF469 gene and BCS type 2 is caused by changes in the PRDM5 gene.
- Ehlers-Danlos Syndrome Medlineplus
  
  Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications. The various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features.
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Omim

Proximal weakness in the lower limbs was noted at 28 years, together with difficulty getting up from the floor or rising from a low chair.

SGCA, TUBA1A, H1-9P, CAPN3, SGCB, AAVS1, DYSF, EIF3K, FKRP
- Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 Orphanet
  
  A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.
Microcephalic Osteodysplastic Primordial Dwarfism, Type I Omim

Brain MRI showed microcephaly, agenesis of the posterior corpus callosum, abnormal gyration with marked pachygyria of the frontal lobes, and mild hypoplasia of the cerebellar vermis. She died at 28 months of age. During the mother's third pregnancy, prenatal diagnosis confirmed a fetus with haplotypes similar to those of the previously affected children.

RNU4ATAC, CLASP1, LSM2
- Microcephalic Osteodysplastic Primordial Dwarfism Type 1 Gard
  
  Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is a genetic condition that is mainly characterized by intrauterine and post-natal growth retardation; an abnormally small head size (microcephaly); abnormal bone growth (skeletal dysplasia); distinctive facial features; and brain anomalies. Other signs and symptoms include sparse hair and eyebrows; dry skin; short limbs; dislocation of the hips and elbows; seizures; and intellectual disability. It is caused by mutations in the RNU4ATAC gene and is inherited in an autosomal recessive manner. Treatment is supportive only. The prognosis is poor with most affected individuals dying within the first year of life. MOPD types 1 and 3 were originally thought to be separate entities, but more recent reports have confirmed that the two forms are part of the same syndrome.
- Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii Orphanet
  
  A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Epidemiology Less than 60 cases have been described in the literature so far. Clinical description The facial dysmorphism is characterized by a round face, metopic ridge, small anterior fontanelle, a sloping forehead, prominent occiput, protruding eyes, prominent nose, small dysplastic ears and micrognathia. The neck is short. Sparse hair and eyebrows, and dry skin are frequently observed. Skeletal anomalies include short limbs, brachydactyly, flexion contractures markedly delayed epiphyseal ossification and, more variably, dislocation of the hips and elbows.
Insulin Receptor Substrate 1 Omim

Rung et al. (2009) used genomewide association data from 1,376 French individuals to identify 16,360 SNPs nominally associated with type 2 diabetes and studied these SNPs in an independent sample of 4,977 French individuals. They then selected the 28 best hits for replication in 7,698 Dutch subjects and identified 4 SNPs showing strong association with type 2 diabetes.

IRS1, PON1
- Paraoxonase 1 Omim
  
  Gene Structure Clendenning et al. (1996) characterized a 28-kb contig encompassing 300 bp of 5-prime sequence, the entire coding region, and 2 kb of 3-prime flanking sequence of the PON1 gene.
Aortic Valve Disease 1 Omim

In 48 patients with BAV/AAT, McKellar et al. (2007) performed targeted analysis of NOTCH1 exons previously implicated in familial and sporadic BAV, and observed overrepresentation of NOTCH1 missense variants among the BAV/AAT patients compared to 22 patients who had BAV without AAT, 28 patients with TAV and AAT, and 94 controls with TAV and no AAT.

NOTCH1, SMAD6, GATA5, NKX2-5, ROBO4, ENPP1, MMP2, FBN1, TGFBR2, ACTB, GATA4, ACTA2, GATA6, ELN, TGFBR1, B3GAT3, NR2F2, FBN2, LOX, TGFB2, MMP14, TBL2, SLC25A24, SRY, NXN, CRELD1, SKIV2L, RPL26, RFC2, RAC1, PRKG1, SNIP1, CCNQ, B3GALT6, MYLK, MYH11, KANSL1, ATP8, MAP3K7, ARHGAP31, MCTP2, BAZ1B, TAB2, ABCC9, TTC37, GTF2IRD1, CHST3, ATP6, NAA10, TGFB3, MFAP5, MLXIPL, BCOR, CLIP2, PACS1, IFT122, SLC9A3R2, LINC01708, FOXE3, LIMK1, GTF2I, GJA8, GJA5, SMAD3, FLNC, FLNA, FOXF1, DSP, MAT2A, DSG1, CTNNB1, CBL, TGFB1, TIMP1, TIMP3, MMP9, MIR3688-1, SPP1, MIR424, ENG, LPA, TLR4, SLC22A3, CCN2, ACE2, CRK, TBX20, CRP, MAPK14, SSH3, TRPV6, QRSL1, PDIA2, NF1, NOS3, ODC1, EGFR, GIT1, CRAT, APOE, MEFV, ARSD, TEX26, AKT1, AGT, HMCN2, ACAN, MIR106A, MIR145, MIR17, MIR195, MIR200C, MIR27A, MIR29A, MIR486-1, EGR2, RNF19A, POLDIP2, FOSB, AIMP2, MAPK1, VEGFA, UBC, MAPK3, MAA, LTBP3, LRP5, TNC, ITK, JUN, JUNB, JUND, SOD3, SOD2, GAPDH, AXIN1, SLC7A1, LTBP4, ATP6V0A2, SIRT1, FGF8, ADAMTS5, AHSA1, SMAD7, ZEB2, MATR3, MMP1, PITX1, PLOD1, GRAP2, FN1, FOS, APLN, SOD1
- Bicuspid Aortic Valve Wikipedia
  
  Bicuspid aortic valve Other names Bicommissural aortic valve [1] The aortic valve controls outflow of blood from the left ventricle of the heart through the aorta (valve is indicated within the yellow highlighted box). A normal aortic valve is tricuspid. Five types of bicuspid valve are shown, with Type 1 being most prevalent. A bicuspid valve forms when the tissue surrounding one of the cusps (leaflets) of the valve fuses during fetal development. This developmental anomaly can have either a negative or no effect on the individual. Specialty Cardiology Bicuspid aortic valve ( BAV ) is an inherited form of heart disease in which two of the leaflets of the aortic valve fuse during development in the womb resulting in a two-leaflet valve (bicuspid valve) instead of the normal three-leaflet valve (tricuspid).
- Familial Bicuspid Aortic Valve Orphanet
  
  Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).
- Aortic Valve Disease 2 Omim
  
  A number sign (#) is used with this entry because of evidence that aortic valve disease-2 (AOVD2) is caused by heterozygous mutation in the SMAD6 gene (602931) on chromosome 15q22. Description Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730). Clinical Features Tan et al. (2012) studied 2 patients with aortic valve disease.
Telangiectasia Wikipedia

"Telangiectasias resistant to sclerotherapy are commonly connected to a perforating vessel". Phlebology . 28 (6): 320–3. doi : 10.1258/phleb.2012.012019 .

ACVRL1, SMAD4, TALDO1, XPA, XPC, KCNAB2, DPM1, RECQL4, PIGL, TREX1, PGAP2, ACTA2, UVSSA, RNF213, PRDM16, PORCN, CCM2, PIGO, PIGY, PGAP3, PIGW, PIGV, SKI, PTEN, ERCC6, RERE, ATR, BMP2, BMPR2, DDB2, EPHB4, POLH, ERCC2, GABRD, GDF2, HFE, MRE11, POLD1, STING1, ENG, SOX18, F8, ATM
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 Omim

Paget disease of bone was found in 28 (57%) of 49 patients at a mean age of 40 years and correlated with increased serum alkaline phosphatase.

VCP, HNRNPA2B1, HNRNPA1, EIF4G2, PSMD2, CFDP1, GEMIN4, TARDBP, MOAP1, ZFAND1, SHOC2, ATG7, NMS, TUBA1B, GNE, AAA1, ATG5, SQSTM1, AAAS, ACTA1, TUBA1A, ALB, SOD1, MASP1, NFKB2, NF1, LAMP2, IGFALS, HSPA5, DNAH8, CTSB, APP, APOE, ELDR
- Inclusion Body Myopathy With Paget Disease Of Bone And/or Frontotemporal Dementia Gene_reviews
  
  Summary Clinical characteristics. Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). Muscle weakness progresses to involve other limb and respiratory muscles. PDB involves focal areas of increased bone turnover that typically lead to spine and/or hip pain and localized enlargement and deformity of the long bones; pathologic fractures occur on occasion. Early stages of FTD are characterized by dysnomia, dyscalculia, comprehension deficits, and paraphasic errors, with minimal impairment of episodic memory; later stages are characterized by inability to speak, auditory comprehension deficits for even one-step commands, alexia, and agraphia. Mean age at diagnosis for muscle disease and PDB is 42 years; for FTD, 56 years.
- Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia Orphanet
  
  Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.
- Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 Omim
  
  A number sign (#) is used with this entry because of evidence that inclusion body myopathy with Paget disease (IBMPFD3) is caused by heterozygous mutation in the HNRNPA1 gene (164017) on chromosome 12q13. One such family has been reported. Heterozygous mutations in the HNRNPA1 gene also result in amyotrophic lateral sclerosis (ALS20; 615426). For a general phenotypic description and a discussion of genetic heterogeneity of IBMPFD, see IBMPFD1 (167320). Clinical Features Kottlors et al. (2010) described a German family with 5 affected sibs with a limb girdle muscular dystrophy characterized by progressive predominantly proximal muscle weakness, mildly elevated serum creatine kinase levels, myopathic findings on muscle biopsy, and Paget disease of the bone. All affected individuals showed a pattern of muscle weakness beginning in the lower proximal extremities and later spreading to the foot dorsiflexors.
- Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 Omim
  
  A number sign (#) is used with this entry because of evidence that inclusion body myopathy with Paget disease and frontotemporal dementia-2 (IBMPFD2) is caused by heterozygous mutation in the HNRNPA2B1 (600124) gene on chromosome 7p15. One such family has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of IBMPFD, see IBMPFD1 (167320). Clinical Features Waggoner et al. (2002) reported a family in which autosomal dominant early-onset Paget disease of bone was associated with a scapuloperoneal type of muscular dystrophy (SPMD). Muscle histology was nonspecific. CPK levels were elevated in active forms of the disorder. PDB in this family presented primarily in the long bones and progressed to the spine and other bones.
Subclinical Infection Wikipedia

Because such cases of infections do not come to clinical attention, health statistics can often fail to measure the true prevalence of an infection in a population , and this prevents the accurate modeling of its infectious transmission . [ medical citation needed ] Types of subclinical infections [ edit ] The following pathogens (together with their symptomatic illnesses) are known to be carried asymptomatically , often in a large percentage of the potential host population: Baylisascaris procyonis [1] Bordetella pertussis ( Pertussis or whooping cough) [2] Chlamydia pneumoniae [3] Chlamydia trachomatis ( Chlamydia ) [4] [5] [6] Clostridium difficile [7] Cyclospora cayetanensis [8] Dengue virus [9] Dientamoeba fragilis [10] Entamoeba histolytica [11] enterotoxigenic Escherichia coli [12] Epstein-Barr virus [13] Group A streptococcal infection [14] Helicobacter pylori [15] Herpes simplex ( oral herpes , genital herpes , etc.) [16] HIV-1 ( AIDS ) [17] Influenza (strains) Legionella pneumophila ( Legionnaires' disease ) [18] measles viruses [19] Mycobacterium leprae ( leprosy ) [20] Mycobacterium tuberculosis ( tuberculosis ) [21] Neisseria gonorrhoeae ( gonorrhoea ) [4] [5] Neisseria meningitidis ( Meningitis ) [22] nontyphoidal Salmonella [23] noroviruses [24] Poliovirus ( Poliomyelitis ) Plasmodium ( Malaria ) Rabies lyssavirus ( Rabies ) rhinoviruses ( Common cold ) [25] Salmonella enterica serovar Typhi ( Typhoid fever ) [26] SARS-CoV-2 ( COVID-19 ) [27] and other coronaviruses [28] Staphylococcus aureus [29] Streptococcus pneumoniae ( Bacterial pneumonia ) [30] Treponema pallidum ( syphilis ) [31] Host tolerance [ edit ] Fever and sickness behavior and other signs of infection are often taken to be due to them.
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Omim

In a questionnaire-based survey, Parsons et al. (2010) found that 28 (80%) of 35 patients with MELAS due to the 3243A-G mutation (590050.0001) and 33 (62%) of 53 carrier relatives reported autonomic symptoms compared to 2 (12%) of 16 controls.

ND5, ND1, ND6, TRNS1, TRNW, TRNF, TRNQ, COX1, COX2, COX3, TRNL1, ND4, TRNS2, TRNK, TRNH, TRNC, TRNV, CYTB, SOD2, SOD1, IL1B, IL1A, ATP6, TRNA, TRNE, TRNL2, TRNI, TRNP, TRNN, NDUFS1, POLG, NPTX2, COX5A, TWNK, MTCO2P12, CPOX, COX8A, RNR2, TRMU, TOMM20, PPARGC1A, SDS, FASTKD2, P2RX2, PRPF6, FGF21, MRM2, SLC25A4, TNFSF10, COQ8A, RARS2, MAPKAP1, GFM2, OR10T2, GLIS3, MIR27B, LINC01672, ASNS, TPO, MTERF1, NDUFV1, ND3, ATXN3, MTOR, ACTB, FH, SARDH, DDIT3, NDUFA1, PNP, RNR1, COL4A1, PRSS1, SDHB, CALB1, RERE, SORD, TFAM, TG, ABL2
- Melas Gene_reviews
  
  Summary Clinical characteristics. MELAS ( m itochondrial e ncephalomyopathy, l actic a cidosis, and s troke-like episodes) is a multisystem disorder with protean manifestations. The vast majority of affected individuals develop signs and symptoms of MELAS between ages two and 40 years. Common clinical manifestations include stroke-like episodes, encephalopathy with seizures and/or dementia, muscle weakness and exercise intolerance, normal early psychomotor development, recurrent headaches, recurrent vomiting, hearing impairment, peripheral neuropathy, learning disability, and short stature. During the stroke-like episodes neuroimaging shows increased T 2 -weighted signal areas that do not correspond to the classic vascular distribution (hence the term "stroke-like"). Lactic acidemia is very common and muscle biopsies typically show ragged red fibers.
- Melas Syndrome Wikipedia
  
  Mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes Basal ganglia calcification, cerebellar atrophy, increased lactate ; a CT image of a person diagnosed with MELAS Specialty Sex Frequency 1 in 4000 [1] Mitochondrial encephalopathy , lactic acidosis , and stroke -like episodes ( MELAS ) is one of the family of mitochondrial cytopathies , which also include MERRF , and Leber's hereditary optic neuropathy . It was first characterized under this name in 1984. [2] A feature of these diseases is that they are caused by defects in the mitochondrial genome which is inherited purely from the female parent. [3] Contents 1 Signs and symptoms 2 Differential diagnosis 3 Genetics 3.1 NADH dehydrogenase 3.2 Transfer RNAs 3.3 Inheritance 4 Diagnosis 5 Treatment and prognosis 6 Epidemiology 7 See also 8 References 9 External links Signs and symptoms [ edit ] MELAS is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). In most cases, the signs and symptoms of this disorder appear in childhood following a period of normal development. [4] Children with MELAS often have normal early psychomotor development until the onset of symptoms between 2 and 10 years old. Though less common, infantile onset may occur and may present as failure to thrive, growth retardation and progressive deafness. Onset in older children typically presents as recurrent attacks of a migraine-like headache, anorexia, vomiting, and seizures.
- Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Medlineplus
  
  Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any age. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines.
- Melas Orphanet
  
  A rare neurometabolic genetic disorder which is progressive and multisystemic due to mitochondrial dysfunction and that is characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Epidemiology Precise prevalence and incidence data are not available. Estimated prevalence has been reported about 0.2/100,000 in Japan. It is one of the most frequent mitochondrial disorders, which are estimated to affect 1/10,000 people. Males and females are affected equally. Clinical description MELAS is a multi-organ disease with protean manifestations. MELAS symptoms usually occur before 20 years, but can develop at any age.
- Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Gard
  
  Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) affects many parts of the body, particularly the brain and nervous system (encephalo-) and muscles (myopathy). Symptoms typically begin in childhood and may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. People with MELAS can also have a buildup of lactic acid in their bodies that can lead to vomiting, abdominal pain, fatigue, muscle weakness, and difficulty breathing. The genes associated with MELAS are located in mitochondrial DNA and therefore follow a maternal inheritance pattern (also called mitochondrial inheritance).
Migraine With Or Without Aura, Susceptibility To, 1 Omim

Gervil et al. (1999) surveyed 2,680 Danish twin pairs for migraine without aura, finding a pairwise concordance rate of 28% in MZ twin pairs and 18% in DZ twin pairs.

EDNRA, ESR1, TNF, BRCA2, ATXN2, QRICH1, TAB2, SH2B3, EIF2B5, SPG7, SMARCA2, ALDH18A1, CACNA1A, PPOX, NOTCH3, MPV17, KCNC1, CLCN1, CAPN3, ALPK1
Fecal–oral Route Wikipedia

. ^ a b c Intestinal Parasites and Infection Archived 2010-10-28 at the Wayback Machine fungusfocus.com – Retrieved on 2010-01-21 ^ a b "Stool-To-Mouth or Fecal–Oral Route of Transmission of Infection | Healthhype.com" . www.healthhype.com .
Alopecia Universalis Wikipedia

In June 2014, a 25-year-old man with almost no hair on his body was reported to have grown full head of hair, as well as eyebrows, eyelashes, and facial, armpit, and other hair, following eight months of treatment. [4] Current treatments [ edit ] Contact immunotherapy: Contact immunotherapy involves the use of contact allergens, such as diphencyprone and squaric acid dibutylester , to induce an immune response that is thought to oppose the action of cells causing hair loss. [5] [6] [7] A review that combined and analyzed the findings of 45 studies comprising 2,227 patients showed any hair regrowth in 54.5% and complete hair regrowth in 24.9% of patients with AT and AU using contact immunotherapy. [8] In addition to its helpful effects in treating AU, it can have side effects that can be very serious, such as severe dermatitis . [5] [9] Corticosteroids: Topical and intralesional corticosteroids , such as clobetasol propionate , have also shown to be an effective treatment for AT and AU patients. [5] [6] A controlled study comprising 28 patients found positive terminal hair growth in eight of the patients (28.5%) using a 0.05% clobetasol propionate ointment. [10] This is very similar to the results obtained from immunotherapy treatment trials.

HR, VDR, AHSG, LMNA, DSP, WDR11, PTPN22, FOXN1, XIST, TNF, LGALS8, AIRE, IL1RN, IL1B, HMGB1, HLA-DRB1, HLA-A, ACE, RBM45
- Alopecia Areata 1 Omim
  
  Description Alopecia areata is a genetically determined, immune-mediated disorder of the hair follicle with an estimated lifetime risk of approximately 2%, making it one of the most common human autoimmune diseases. It shows a spectrum of severity that ranges from patchy localized hair loss on the scalp to the complete absence of hair everywhere on the body (Gilhar and Kalish, 2006). Clinical Features Alopecia areata is characterized by patchy hair loss on the scalp, which can eventually involve the entire scalp (alopecia totalis) or the entire body (alopecia universalis) (Martinez-Mir et al., 2007). The onset of the disease can be sudden, its progression is unpredictable, and it can be recurrent throughout life. Alopecia areata is viewed as a tissue-specific autoimmune disease of the hair follicle (Martinez-Mir et al., 2007).
- Alopecia Areata Medlineplus
  
  Alopecia areata is a common disorder that causes hair loss. "Alopecia" is a Latin term that means baldness, and "areata" refers to the patchy nature of the hair loss that is typically seen with this condition. In most people with alopecia areata, hair falls out in small, round patches, leaving coin-sized areas of bare skin. This patchy hair loss occurs most often on the scalp but can affect other parts of the body as well. Uncommonly, the hair loss involves the entire scalp (in which case the condition is known as alopecia totalis) or the whole body (alopecia universalis). Other rare forms of alopecia areata, which have different patterns of hair loss, have also been reported.
- Alopecia Universalis Congenita Omim
  
  A number sign (#) is used with this entry because of evidence that alopecia universalis congenita (ALUNC) is caused by homozygous mutation in the human homolog of the mouse 'hairless' gene (HR; 602302) on chromosome 8p21. Description Alopecia universalis congenita is a severe autosomal recessive form of alopecia characterized by a complete absence of hair development affecting all scalp and body hair (Nothen et al., 1998). This rare disorder is clearly distinct from alopecia areata (AA1; 104000), which has an autoimmune basis with probable genetic predisposition. Clinical Features Ahmad et al. (1993) studied an inbred Pakistani kindred in which 9 males and 4 females had alopecia universalis as an isolated abnormality. The affected individuals were distributed in 7 related sibships. Skin biopsy from the scalp showed hair follicles without hair.
- Alopecia Universalis Gard
  
  Alopecia universalis (AU) is a condition characterized by the complete loss of hair on the scalp and body. It is an advanced form of alopecia areata , a condition that causes round patches of hair loss. Although the exact cause of AU is unknown, it is thought to be an autoimmune condition in which the person's immune system mistakenly attacks the hair follicles. An interaction between genetic and environmental factors is thought to play a role in the condition's onset. There is currently no cure for AU, but sometimes hair regrowth occurs on its own, even after many years.
- Alopecia Universalis Orphanet
  
  A disorder of most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.
- Alopecia Areata 2 Omim
  
  For a phenotypic description and a discussion of genetic heterogeneity of alopecia areata, see 104000. Mapping In an effort to define a genetic basis of alopecia areata, Martinez-Mir et al. (2007) performed a genomewide search for linkage to 20 families with 102 affected and 118 unaffected individuals from the United States and Israel. The analysis revealed evidence of at least 4 susceptibility loci on chromosome 6, 10, 16, and 18 using several different statistical approaches. Fine-mapping analysis with additional families yielded a maximum multipoint lod score of 3.93 on chromosome 18 (AA1; 104000), a 2-point affected sib pair (ASP) lod score of 3.11 on chromosome 16 at marker D16S415 (AA2), several ASP lod scores greater than 2.00 on chromosome 6q, and a haplotype-based relative risk lod of 2.00 on chromosome 6p, in the major histocompatibility complex locus. INHERITANCE - Autosomal dominant - Autosomal recessive SKIN, NAILS, & HAIR Hair - Well-circumscribed patches of hair loss on scalp - Alopecia universalis - Selective loss of pigmented hair MISCELLANEOUS - Incomplete penetrance - Autosomal dominant and recessive models are under consideration - Onset of disease can be sudden and the progression of the disorder unpredictable ▲ Close
Cat Bite Wikipedia

American Society for Surgery of the Hand. 2017. Archived from the original on 28 July 2017 . Retrieved 18 June 2017 . ^ a b "Cat scratch disease" .
Prolactinoma Wikipedia

Ncbi.nlm.nih.gov . Retrieved 2012-05-28 . ^ a b c d e Yatavelli RK, Bhusal K (2020).

AIP, MEN1, PRL, BMP4, CEBPD, CDH23, NPY5R, MYC, CDKN1B, GPR101, PRKAR1A, CDKN1A, ESR1, DRD2, LRP2, GH1, CDKN2C, CDKN2B, POMC, SST, HMGA2, TGFB1, VEGFA, IGF1, POU1F1, PRLR, BRD2, TP53, SSTR5, SLC20A1, ERBB2, SMAD3, EGFR, TNFSF11, NGFR, NGF, MMP9, CIB1, PCNA, AKT1, FLNA, FGF2, SOX2, SSTR1, CCND1, PTPRF, MIR93, PTTG1, FGF4, SULT2A1, SSTR2, STAT5A, MGAM, STAT5B, TPT1, TGFB3, TRH, FGF23, PRDM2, TGFBR2, XBP1, TGM2, TYRP1, TRHR, TH, USP14, KLRK1, PREB, MIR136, TMEM67, CLRN1-AS1, ACVR1C, PGAM5, MLKL, RPSAP52, STH, TICAM2, MIR137, LRPPRC, MIR145, POU5F1P3, POU5F1P4, MIR671, MIR1299, TMED7-TICAM2, KLRC4-KLRK1, H3P23, RERG, QTRT1, MIB1, NDRG2, ATG7, ZNRD2, DCTN6, RIPK3, ESM1, POU6F2, MPRIP, PADI4, RWDD3, ERAL1, MLH3, MACROD1, TMED7, HSD17B7, MOCOS, ZC4H2, NPDC1, SNAP25, POU5F1, SKP2, MSH6, MTOR, FSHB, GAPDH, GDNF, GHRHR, GNAS, GSTM1, NRG1, KLK1, MR1, HPGD, HTN3, IFI27, IHH, IL6, IL6ST, FOS, FOXO1, FGFR1, ERBB4, APCS, ARRB2, AVP, BTF3P11, CA1, CDH1, CDKN2A, CHGA, CRABP1, CYP19A1, E2F1, EGR1, EIF4EBP1, EPHB2, ERBB3, EIF6, LGALS3, SI, PPARA, PDGFA, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PITX2, ALDH1A1, PPARG, LHB, PRB3, MAPK1, PSMD9, PTGS2, RXRG, SDHA, SDHB, CNTN3, TNFRSF11B, OMP, NTRK1, LIF, LIFR, SMAD7, SMCP, MDM2, MGMT, MITF, MKI67, MMP2, MYCN, NEUROD1, NM, NMB, NOTCH1, NPY, H3P10
- Prolactinoma Gard
  
  Prolactinoma is a tumor of the pituitary gland that causes increased levels of the hormone prolactin . This hormone normally stimulates breast development and milk production in women. Prolactinoma can affect men or women. In women, the symptoms may include unusual milk production (galactorrhea) when not pregnant or nursing and having no menstrual cycles ( amenorrhea ). In men, the most common symptoms are decreased sex drive and infertility. Most prolactinomas occur by chance (sporadically) in people with no family history.
- Prolactinoma Orphanet
  
  A rare, usually benign, neoplasm of the anterior pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men. Epidemiology In Europe, the prevalence of prolactinoma is reported at between 1/1,600-2,200 (Belgium, UK and Switzerland). A notable female preponderance is observed, particularly among premenopausal women. Prolactinoma accounts for 66% of clinically relevant pituitary adenomas.
- Prolactinoma Mayo_clinic
  
  Overview Prolactinoma is a noncancerous tumor of the pituitary gland. This tumor causes the pituitary gland to make too much of a hormone called prolactin. The major effect of a prolactinoma is decreased levels of some sex hormones — namely, estrogen and testosterone. Prolactinoma A prolactinoma is a type of tumor that develops in the pituitary gland at the base of your brain. A prolactinoma isn't life-threatening. But it can cause vision difficulties, infertility and other problems.
Cerebral Atrophy Wikipedia

Archived from the original on 2016-03-04 . Retrieved 2014-03-28 . ^ Brainmarkers.com Archived March 4, 2016, at the Wayback Machine ^ Steroids and Apparent Cerebral Atrophy on Computed Tomograph... : Journal of Computer Assisted Tomography ^ "IQs are falling - and have been for years" . ^ Fox Nick C, Schott Jonathan M (2004).

CDR1, ATM, CDR2, ATXN3, AKR1C4, PRNP, RUNX1T1, ATXN1, GRM1, MRE11, HSPA5, CACNA1A, PNKP, SYNE1, FLVCR1, CDR2L, SHQ1, TDP1, PNPLA6, NPC2, CTNNBL1, AGTPBP1, PARP1, SAR1A, SLC2A4RG, ZFYVE9, CARD14, ALKBH7, CNTN4, VWA3B, C9orf72, TGM6, MIR148B, MIR202, MIR671, ABCB6, PRDX2, ARHGEF2, HSPB1, APP, C4BPA, CASP3, CSTB, DAB1, ELANE, FRAXA, GABRA3, GRM5, LY6E, AAAS, NPC1, ATXN2, SOX3, SPTBN2, SRY, AP2B1, TOP1, UBA1, UBE2I, AAA1
- Cerebellar Degeneration Wikipedia
  
  Cerebellum-related disorders generally transpire in individuals between the ages of 45 to 65 years, however the age of symptomatic onset differs in accordance with the underlying cause of the degenerative disorder. [1] For paraneoplastic cerebellar degeneration, the average age of onset is 50 years, generally affecting a greater population of males than females. [2] Nutritional and alcoholic cerebellar degeneration, being more prevalent than paraneoplastic cerebellar degeneration, affects individuals with a thiamine deficiency and dipsomaniacs , respectively. [2] Recent epidemiological studies on cerebellar degeneration estimated a global prevalence rate of 26 per 100,000 cases of cerebellar degeneration in children. [28] References [ edit ] ^ a b c d "Cerebellar degeneration" .
- Cerebellar Degeneration Gard
  
  Cerebellar degeneration refers to the deterioration of neurons (nerve cells) in the cerebellum (the area of the brain that controls muscle coordination and balance). Conditions that cause cerebellar degeneration may also affect other areas of the central nervous system, such as the spinal cord, the cerebral cortex (the thin layer of cells covering the brain), and the brain stem. Signs and symptoms of cerebellar degeneration may include a wide-based, uncoordinated walk; a back and forth tremor in the trunk of the body; uncoordinated movements of the arms and legs; slow and slurred speech; and nystagmus. Cerebellar degeneration can be caused by a variety of factors including inherited gene changes (mutations), chronic alcohol abuse, and paraneoplastic disorders . Treatment for cerebellar degeneration varies depending on the underlying cause.
Oat Sensitivity Wikipedia

Sensitivity to oat foods can also result from their frequent contamination by wheat, barley, or rye particles. [1] Contents 1 Oat allergy 2 Avenin-sensitive enteropathy 2.1 Immunological evidence 2.1.1 Anti-avenin antibodies 2.1.2 Cellular immunity 3 See also 4 References Oat allergy [ edit ] Studies on farmers with grain dust allergy and children with atopy dermatitis reveal that oat proteins can act as both respiratory and skin allergens. [2] [3] [4] [5] [6] Oat dust sensitivity in farms found 53% showed reactivity to dust, second only to barley (70%), and almost double that of wheat dust. [7] The 66 kDa protein in oats was visualized by 28 out of 33 sera (84%). However, there was evident non-specific binding to this region and thus it may also represent lectin -like binding. [8] IgA and IgG responses, meanwhile, like those seen to anti-gliadin antibodies in celiac disease or dermatitis herpetiformis, are not seen in response to avenins in atopic dermatitis patients. [9] Food allergies to oats can accompany atopy dermatitis. [10] Oat avenins share similarities with γ and ω-gliadins of wheat — based on these similarities they could potentiate both enteropathic response and anaphylactic responses.
Alcohol-Induced Respiratory Reactions Wikipedia

The deficiency has been most thoroughly investigated in native Japanese who have a variant ALDH2 allele termed glu487lys , ALDH2*2 , or ALDH2*504lys which is a single nucleotide polymorphism allele encoding in its amino acid residue 487 ( glutamic acid ) rather than lysine ; in the Japanese population, about 57% of individuals are homozygous for the normal allele (sometimes termed ALDH2*1 ), 40% are heterozygous for glu487lys, and 3% are homozygous for glu487lys. [11] Since ALDH2 assembles and functions as a tetramer and since ALDH2 tetramers containing one or more glu487lys proteins are also essentially inactive, the glu487lys protein behaves as a dominant negative in inactivating the normal ALDH2 protein and individuals homozygous for glu487lys have undetectable while heterozygote individuals for glu487lys have little ALDH2 activity. [12] In consequence, Japanese homozygous or, to a lesser extent, heterozygous for glu487lys metabolize ethanol to acetaldehyde normally but metabolize acetaldehyde poorly and are thereby susceptible to a set of adverse responses to ethanol and ethanol-containing beverages; these responses include the transient accumulation of acetaldehyde in blood and tissues; facial flushing urticaria , systemic dermatitis , and alcohol-induced respiratory reactions (i.e. rhinitis and, primarily in patients with a history of asthma , mild to moderately bronchoconstriction exacerbations of their asthmatic disease. [8] These allergic reaction-like symptoms, which typically occur within 30–60 minutes of ingesting alcoholic beverages, do not appear to reflect the operation of classical IgE - or T cell -related allergen -induced reactions but rather are due, at least in large part, to the action of acetaldehyde in stimulating tissue mast cells and blood borne basophils to release histamine , the probable evoker of these symptoms. [13] [8] The percentages of glu487lys heterozygous plus homozygous genotypes are: ~35% in native Caboclo of Brazil, 30% in Chinese, 28% in Koreans, 11% in Thai people , 7% in Malaysians, 3% in natives of India, 3% in Hungarians, and 1% in Filipinos; percentages are essentially 0 in individuals of Native African descent, Caucasians of Western European descent, Turks, Australian Aborigines, Australians of Western European descent, Swedish Lapps, and Alaskan Eskimos. [14] [13] While the prevalence of flushing reactions is high in those non-Japanese populations that have a high prevalence of the glu487lys genotype, the percentages of these non-Japanese individuals with the glu487lys allele who experience respiratory symptoms, particularly asthmatic exacerbations, has yet to be defined.
Fear Of Falling Wikipedia

"The post-fall syndrome: a study of 36 elderly patients". Gerontology . 28 (4): 265–270. doi : 10.1159/000212543 .