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Current Directions in Psychology, 11, 28–32. Goldstein, Gerald; Beers, Susan, eds (2004).

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Protein Z Deficiency Omim

The authors concluded that very low levels of protein Z may be associated with an increased risk of DVT. In a metaanalysis involving 28 case-control studies including 4,218 patients with thrombotic diseases and 4,778 controls, Sofi et al. (2010) found that low protein Z levels were associated with an increased risk of thrombosis (OR of 2.90, p less than 0.00001).

PROZ
Hwabyeong Wikipedia

Archived from the original (PDF) on 2012-08-13 . Retrieved 2016-03-28 . CS1 maint: archived copy as title ( link ) ^ Min SK, Suh SY, Song KJ (March 2009).
Optic Atrophy 7 With Or Without Auditory Neuropathy Omim

Another brother exhibited mild symptoms, consisting of transient partial loss of vision after exercise (Uhthoff phenomenon). Examination at age 28 years showed normal visual acuity and color vision, with no disc pallor on funduscopy.

TMEM126A
- Autosomal Recessive Optic Atrophy, Opa7 Type Orphanet
  
  A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy.
Hirschsprung Disease, Susceptibility To, 2 Omim

They searched for locations of the genes responsible for HSCR in this kindred by genotyping 3 small multicase families and locating genomic regions demonstrating identity by descent followed by linkage disequilibrium analysis of 28 additional nuclear families. Based on this novel strategy, Puffenberger et al. (1994) identified a new locus for HSCR on 13q22.

EDN3, EDNRB, GDNF, RET, ZEB2, NRG1, SOX10, SEMA3D, SEMA3C, ECE1, GFRA1, NKX2-1, CAVIN2, MIR206, GAL, FZD3, NTRK3, RELN, AFAP1-AS1, WNT3A, MIR369, NRSN1, CELSR3, ARID1B, GAP43, MIR218-1, BMI1, MIR195, MIR128-1, MED12, LCT-AS1, UTP25, IHH, L1CAM, ERBB2, ITGB1, CD14, AEBP2, PHOX2B, PAX3, NRTN, KIFBP, PROKR1, DSCAM, PIGV, ASCL1, BDNF, TCF4, PIGO, RASGEF1A, COMT, RMRP, CSGALNACT2, MITF, KITLG, KIAA0586, RAD51, RPGRIP1L, RIMBP2, PIGN, RAD51C, SETBP1, SH2B1, EXOC6B, TBX1, B9D1, PGAP2, UBE2T, RREB1, SNAI2, KIAA0556, KIR2DS4, KIR2DL1, KIR2DS1, MBTPS2, NPHP1, SEC24C, SF3B4, MAD2L2, PIBF1, PIGL, POLR2F, NAA10, MKKS, XRCC2, GJB6, UFD1, ZNF423, HIRA, KRAS, KIT, KIR3DL1, CEP104, TMEM216, VRK2, TMEM138, CSPP1, AHI1, ARMC9, DDX59, BRIP1, DHCR7, SLX4, ABHD1, CREBBP, PIGY, TMEM67, PGAP3, CEP41, B3GALT6, CEP120, ARX, APLF, ARL13B, CALB2, HYLS1, BRCA2, BRCA1, JMJD1C, MYO1H, ATRX, PIGW, ARVCF, ARL3, LINC00327, ACTG2, TCTN2, CEP290, FANCE, GATA1, FANCF, FANCG, CC2D2A, FOXF1, SALL4, INPP5E, GJB2, PALB2, FANCI, GP1BB, RFWD3, FANCL, MKS1, BCOR, FANCB, SLC6A8, FANCD2, FANCC, TCTN1, TMEM231, CPLANE1, EP300, TMEM237, ERCC4, FANCM, FANCA, ACHE, NTRK1, SLC9A3R2, NRG3, SCAF11, GEMIN2, GFRA4, SLC2A1, SEMA3A, MCS+9.7, BMP4, DNMT3B, FN1, HOXB5, S100A1, NID1, PTCH1, MIR215, PSPN, AKT1, NLGN1, IL11, PROK1, CALCA, MIR141, ICAM1, KCNN3, ANGPTL2, ELP1, PGP, PLAGL2, ARTN, RGS6, BMP2, S100B, MECP2, BMP10, MEG3, GLI1, CX3CL1, VAMP5, MIR483, NTF3, MIR770, ACTR2, AICDA, LRSAM1, SNRNP70, CHRNE, ITIH5, DNMT1, CYP2B6, COL6A1, COL6A2, DECR1, CTH, DCX, DVL2, ITPKC, ESR1, GFRA2, IARS2, GABRG2, ACKR3, FHL1, FGF1, NLGN2, FABP7, ERCC1, DNTT, ENO2, NOX5, EDNRA, DYRK1A, DVL3, DVL1, SVEP1, DUSP6, KCNG4, ZNF827, CDX2, MIR192, MIR214, ADRA2B, MIR24-1, MIR30A, MIR31, ADRA1A, MIR31HG, MIR431, MIR488, COL6A4P2, MIR637, MIR939, C17orf107, MIR1324, HOTTIP, MTRNR2L12, ADARB1, ACTB, FALEC, LINC01844, CBSL, ALK, MIR150, CDX1, MIR146A, TSGA13, CD34, CCK, PROKR2, CBS, GPR42, CAV1, CASR, KCNG3, NLRP6, CAPN1, BRS3, DOK6, BMP5, FGD2, BBS2, ASS1, CCDC66, COL6A4P1, RBPMS2, APP, GLI3, FOXA1, GRB10, WNT8A, CXCR4, MAPK10, DPF3, MAPK3, DVL1P1, PRKCI, FXYD1, CUL3, PLEK, IL1RL2, BANF1, HSPB3, PLAG1, LPAR2, DCLK1, KLF4, PIK3CG, SLIT2, HAND2, ROCK2, PIGA, TUBA1A, WNT1, ANO1, VIP, SCN1B, SCN10A, SIM2, RYR3, RYR2, RYR1, SOX2, SOX4, SOX9, ROCK1, SRY, SSTR4, STC1, SYP, ROBO1, RBP4, TCOF1, RBP3, TTF1, PTPRR, PTGER2, PTGES, PCDH9, PAX6, PCDHA9, IL17RA, BACE2, IL17A, AUTS2, IGF2, IGF1, SIGLEC8, CNTN6, HSPB2, HSPB1, TLX3, KCNK4, HOXA13, MNX1, SUFU, CNTN5, NLGN3, SLC6A20, GSTT1, GSTP1, GSTM1, ITGB2, JAG2, UBR4, CXCR6, EIF4A3, NUP98, ARNT2, NOTCH1, AKT3, NOS2, NOS1, NGF, MT1A, TRAF3IP2, KCNH2, MCC, MAP2, PRDX3, STMN2, INMT, ZNF609, SMAD1, PLCB1, KCNJ12, ABO
- Hirschsprung's Disease Mayo_clinic
  
  Overview Hirschsprung's (HIRSH-sproongz) disease is a condition that affects the large intestine (colon) and causes problems with passing stool. The condition is present at birth (congenital) as a result of missing nerve cells in the muscles of the baby's colon. Without these nerve cells stimulating gut muscles to help move contents through the colon, the contents can back up and cause blockages in the bowel. A newborn who has Hirschsprung's disease usually can't have a bowel movement in the days after birth. In mild cases, the condition might not be detected until later in childhood.
- Hirschsprung Disease, Susceptibility To, 4 Omim
  
  A number sign (#) is used with this entry because of evidence that susceptibility to Hirschsprung disease (HSCR4) is associated with variation in the EDN3 gene (131242) on chromosome 20q13. Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).
- Hirschsprung Disease, Susceptibility To, 3 Omim
  
  A number sign (#) is used with this entry because of evidence that susceptibility to Hirschsprung disease-3 (HSCR3) is associated with variation in the GDNF gene (600837) on chromosome 5p13. Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).
- Hirschsprung Disease, Susceptibility To, 6 Omim
  
  Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.
- Hirschsprung Disease, Susceptibility To, 1 Omim
  
  One of these children had inherited her mutation from her mother, who presented with medullary thyroid carcinoma and pheochromocytoma at the age of 28. This child underwent prophylactic thyroidectomy.
- Hirschsprung Disease, Susceptibility To, 7 Omim
  
  Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.
- Hirschsprung Disease Orphanet
  
  Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon. Epidemiology HSCR has an estimated annual incidence of 1/5,000 births. Short segment HSCR is more frequent in males. Clinical description HSCR generally manifests shortly after birth with symptoms of lower intestinal obstruction such as failure to pass meconium within the first 48 hours of life, abdominal pain, constipation, progressive abdominal distention, vomiting, and occasionally diarrhea. Rarely, it presents later in childhood with symptoms of severe constipation and failure to thrive. HSCR can also be associated with additional anomalies such as sensorineural hearing loss (neurologic Waardenburg-Shah syndrome), limb anomalies (Bardet-Biedl syndrome), intellectual deficit (Mowat-Wilson syndrome), central alveolar hypoventilation (Haddad syndrome), or medullary thyroid carcinoma (multiple endocrine neoplasia syndrome type 2B).
- Hirschsprung Disease, Susceptibility To, 8 Omim
  
  Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.
- Hirschsprung Disease, Susceptibility To, 9 Omim
  
  Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.
- Hirschsprung's Disease Wikipedia
  
  The suction rectal biopsy is considered the current international gold standard in the diagnosis of Hirschsprung's disease. [28] Radiologic findings may also assist with diagnosis. [29] Cineanography ( fluoroscopy of contrast medium passing anorectal region) assists in determining the level of the affected intestines. [ citation needed ] Treatment [ edit ] Treatment of Hirschsprung's disease consists of surgical removal (resection) of the abnormal section of the colon, followed by reanastomosis . [ citation needed ] Colostomy [ edit ] The first stage of treatment used to be a reversible colostomy . ... "Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease". Human Mutation . 28 (8): 790–6. doi : 10.1002/humu.20517 .
- Hirschsprung Disease, Susceptibility To, 5 Omim
  
  Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.
- Hirschsprung Disease Gard
  
  Hirschsprung disease (HSCR) is a disease of the large intestine or colon. People with this disease do not have the nerve cells in the intestine required to pass stools from the body normally. Symptoms of Hirschsprung disease usually start in very young children, but may occur later. The symptoms may vary with age, but often involve constipation and/or obstruction of the bowel . Other signs and symptoms include vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, and slow growth.
Sneddon Syndrome Omim

Two presented with ischemic strokes at 28 and 42 years of age, and the third with hemorrhagic strokes at ages 23 and 34 years.

ADA2, ADA, ARSA
- Sneddon's Syndrome Wikipedia
  
  Sneddon syndrome Other names Ehrmann-Sneddon syndrome, Livedo racemosa-cerebrovascular accident syndrome, Livedo reticularis-cerebrovascular accident syndrome [1] This condition is inherited in an autosomal recessive manner [2] Specialty Rheumatology Sneddon's syndrome [1] is a form of arteriopathy characterized by several symptoms, including: Severe, transient neurological symptoms or stroke Livedo reticularis , or livedo racemosa Contents 1 Signs and symptoms 2 Pathogenesis 3 Diagnosis 4 Treatment 5 Epidemiology 6 History 7 See also 8 References 9 Further reading 10 External links Signs and symptoms [ edit ] Sneddon's syndrome generally manifests with stroke or severe, transient neurological symptoms, and a skin rash ( livedo reticularis ). Livedo reticularis appears as a bluish-purple, netlike mottling of the skin. Sneddon's syndrome may instead present with livedo racemosa , which involves larger, less organized patches of bluish-purple mottling of the skin. Both are generally found first in the extremities, both worsen in cold and either may occur without Sneddon's Syndrome or any other systemic disease. [ citation needed ] Sneddon's Syndrome can be characterized by: transient amnesia , transient aphasia , palsy , headaches , hypertension, transient ischemic attacks (TIA), stroke , [3] coronary disease and dementia. [4] The skin manifestations may precede the neurologic symptoms by years. [3] Pathogenesis [ edit ] Sneddon's syndrome is a progressive, noninflammatory arteriopathy leading to the characteristic skin condition and to cerebrovascular problems, including stroke, transient ischemic attack (TIA), severe but transient neurological symptoms thought to be caused by cerebral vasospasm, coronary disease and early-onset dementia. Progressive compromise of arterial linings in Sneddon's produces clotting, for which high-dose warfarin is most commonly prescribed, and can also cause the development of systemic arterial plaque when cholesterol levels are normal. [ citation needed ] Diagnosis [ edit ] There are no diagnostic tests on which all Sneddon's patients will have abnormal results, although brain MRI and skin biopsy are often abnormal.
- Sneddon Syndrome Gard
  
  Sneddon syndrome is a rare, progressive condition that affects blood vessels. It is primarily characterized by livedo reticularis (net-like patterns of discoloration on the skin) and neurological abnormalities. Symptoms may include transient ischemic attacks (mini-strokes) and strokes; headache; dizziness; high blood pressure; and heart disease. Reduced blood flow to the brain may cause reduced intellectual ability, memory loss, personality changes, and/or other neurological symptoms. The cause of Sneddon syndrome is often unknown, but it is sometimes associated with an autoimmune disease.
- Adenosine Deaminase 2 Deficiency Medlineplus
  
  Adenosine deaminase 2 (ADA2) deficiency is a disorder characterized by abnormal inflammation of various tissues. Signs and symptoms can begin anytime from early childhood to adulthood. The severity of the disorder also varies, even among affected individuals in the same family. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, ADA2 deficiency causes abnormal, unprovoked inflammation that can damage the body's tissues and organs, particularly blood vessels.
- Sneddon Syndrome Orphanet
  
  Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa. Epidemiology SS has an estimated annual incidence of approximately 1/250,000. The disease predominantly affects women in young adulthood. Clinical description The mean age of onset of neurological symptoms is 39 years, though the livedo is generally observed up to 10 years earlier and sometimes since childhood. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discoloration of the skin affecting primarily the legs and arms, but also involving the buttocks and the trunk, and that is exacerbated by cold or pregnancy. Livedo reticularis, that is limited to the extremities and is visible only in the cold, has also been observed in some cases.
Factor V And Factor Viii, Combined Deficiency Of, 1 Omim

Neerman-Arbez et al. (1997) studied linkage of F5F8D in 17 Iranian families with a total of 28 affected individuals. All pedigrees except 1 contained at least 1 consanguineous marriage.

LMAN1, MCFD2, COX8A, F5, F8, CRX, RPGR
- Factor V And Factor Viii, Combined Deficiency Of, 2 Omim
  
  A number sign (#) is used with this entry because combined deficiency of factor V and factor VIII type 2 (F5F8D2) is caused by homozygous mutation in the MCFD2 gene (607788) on chromosome 2p. For a general phenotypic description and a discussion of genetic heterogeneity of F5F8D, see 227300. Description Combined deficiency of factor V (612309) and factor VIII (300841) is characterized by bleeding symptoms similar to those in hemophilia (306700) or parahemophilia (227400), caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%.
- Factor V And Factor Viii, Combined Deficiency Of, With Normal Protein C And Protein C Inhibitor Omim
  
  Rahim Adam et al. (1985) reported a hemorrhagic diathesis due to combined deficiency of factors V and VIII in a Syrian brother and sister. Unlike reported cases, no abnormality of protein C (612283) or its inhibitor was found. Both parents and 1 of 3 clinically normal sibs had levels of factors V and VIII greater than 10% but less than 50% of normal. Inheritance - Autosomal recessive Misc - Reduced factor V and VIII in heterozygotes Lab - Factor V deficiency - Factor VIII deficiency Heme - Bleeding diathesis ▲ Close
- Combined Deficiency Of Factor V And Factor Viii Orphanet
  
  A rare inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms. Epidemiology Prevalence is estimated between 1/100,000 and 1/1,000,000. The condition is more prevalent in the Mediterranean area and in areas where consanguineous marriages are common. Clinical description Combined FV and FVIII deficiency can manifest at any age. Epistaxis, easy bruising, post-surgical or post partum bleeding and menorrhagia are the most common symptoms.
46,xy Sex Reversal 6 Omim

The authors noted that these 4 families with MAP3K1 mutations represented 28% of their patient population with a diagnosis of complete or partial gonadal dysgenesis.

SRY, SOX9, DMRT1, MAP3K1, CBX2, WT1, NR5A1, DHH, TSPY3, PPP2R3C, FTHL17, ZFY, MAMLD1, DDX3Y, TSPY1, PGD, TSPY10
- 46,xy Sex Reversal 3 Omim
  
  A number sign (#) is used with this entry because this form of 46,XY sex reversal is caused by heterozygous mutation in the NR5A1 gene (184757) on chromosome 9q33. For a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 (400044). Nomenclature As a result of discussions at the International Consensus Conference on Intersex, Lee et al. (2006) proposed the term 'disorder(s) of sex development' (DSD) to replace the previously used terms 'pseudohermaphroditism,' 'intersex,' and 'sex reversal.' Clinical Features Achermann et al. (1999) described a phenotypically female patient who presented with primary adrenal failure in the first 2 weeks of life. Her karyotype was XY, and a presumptive diagnosis of congenital lipoid adrenal hyperplasia (201710) was made.
- 46,xy Sex Reversal 10 Omim
  
  A number sign (#) is used with this entry because of evidence that 46,XY sex reversal-10 (SRXY10) is caused by heterozygous deletion of a 32.5-kb regulatory region (XYSR) -640 to -607 kb upstream of the SOX9 gene (608160) on chromosome 17q24. Description 46,XY females with gonadal dysgenesis have streak gonads but look like normal females at birth. They do not develop secondary sexual characteristics at puberty and do not menstruate. They are chromatin-negative and are usually of normal stature, without the somatic stigmata of Turner syndrome (see 163950) (summary by Mann et al., 1983). For a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 (400044).
- 46,xy Sex Reversal 5 Omim
  
  A number sign (#) is used with this entry because of evidence that 46,XY sex reversal-5 (SRXY5) is caused by compound heterozygous mutation in the CBX2 gene (602770) on chromosome 17q25. One such patient has been reported. For a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 (400044). Clinical Features Biason-Lauber et al. (2009) reported a child who, despite prenatally determined 46,XY karyotype, presented at birth as a phenotypically normal female. The karyotype was confirmed antenatally. She had low testosterone at 2 years of age that failed to increase after stimulation with chorionic gonadotropin (CG; 118860). Laparoscopy performed at 4.5 years to evaluate and potentially remove the gonads showed 2 ovaries of normal appearance.
- 46,xy Sex Reversal 1 Omim
  
  A number sign (#) is used with this entry because this form of 46,XY sex reversal is caused by point mutations or deletions in the SRY gene (480000) on chromosome Yp11.3. Description Individuals with 46,XY complete gonadal dysgenesis are phenotypically female; however, they do not develop secondary sexual characteristics at puberty and do not menstruate. They have bilateral 'streak gonads,' which typically consist of fibrous tissue and variable amounts of wavy ovarian stroma. A uterus and fallopian tube are present and external genitalia are female (reviewed by Berkovitz et al., 1991). Genetic Heterogeneity of 46,XY Sex Reversal Male sexual determination is initiated by Y-chromosomal SRY, which activates a cascade of genes that lead the embryonic gonad to develop into a testis.
- 46,xy Sex Reversal 2 Omim
  
  A number sign (#) is used with this entry because of evidence that dosage-sensitive sex reversal is due to duplication of the DAX1 gene (NR0B1; 300473) on chromosome Xp21.3-p21.2. For a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 (400044). Clinical Features The existence of an X-specific gene involved in human sex determination was first postulated by German et al. (1978), on the basis of a family with an apparent X-linked mode of inheritance of 46,XY gonadal dysgenesis. A number of families with X-linked recessive (or sex-limited autosomal dominant) transmission of the disorder were reported thereafter (reviewed by Fechner et al., 1993). Bardoni et al. (1994) studied 4 patients with 46,XY sex reversal, who were raised as girls due to their having either ambiguous or female external genitalia.
- 46,xy Sex Reversal 7 Omim
  
  A number sign (#) is used with this entry because this form of 46,XY sex reversal can be caused by a mutation in the desert hedgehog gene (DHH; 605423) on chromosome 12q13. For a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 (400044). Clinical Features Canto et al. (2004) studied 6 unrelated phenotypic females of Mexican-Mestizo origin with 46,XY complete gonadal dysgenesis. All 6 had bilateral streaks, infantile uterus, and bilateral fallopian tubes, 1 had a left epididymis, and 2 had bilateral epididymis. Two had bilateral gonadoblastoma and 1 had bilateral dysgerminoma. Molecular Genetics Canto et al. (2004) sequenced the DHH gene using genomic DNA from paraffin-embedded gonadal tissue from 6 patients with complete 46,XY pure gonadal dysgenesis.
- 46,xy Sex Reversal 4 Omim
  
  A number sign (#) is used with this entry because 9p24.3 deletions have been observed in patients with 46,XY sex reversal without other features of the chromosome 9p deletion syndrome (158170). For a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 (400044). Clinical Features Hoo et al. (1989) described 4 patients with 46,XY complete gonadal dysgenesis and a chromosome 9p deletion. All showed female external genitalia and uterus. Histologic studies of the gonads in 2 showed immature testicular tissue containing Sertoli cells but no germinal cells. The gonads appeared to produce androgens in normal amounts and responded to stimulation by HCG (see 118850).
- Swyer Syndrome Gard
  
  Swyer syndrome is a genetic condition affecting sexual organ development, classified as a disorder of sex development (DSD). In Swyer syndrome, people with one X chromosome and one Y chromosome, normally present in males, are born with female external genitalia and underdeveloped gonads (ovaries or testes) known as streak gonads. Most people with Swyer syndrome are raised as females. Adolescents with this condition do not go through normal puberty and are infertile. Some cases of Swyer syndrome are caused by genetic alterations (mutations) in one of several genes, but in some cases the cause is unknown. The inheritance pattern depends on the responsible gene. This condition is diagnosed based on the chromosome results, clinical examination, and imaging studies.
- 46,xy Complete Gonadal Dysgenesis Orphanet
  
  A rare disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype. Epidemiology The prevalence is unknown. Clinical description Patients present during adolescence or early adulthood with normal female external genitalia but lack pubertal development although adrenarche is normal. Completely undeveloped streak gonads are present and are associated with an increased risk of abdominal tumours (most commonly dysgerminoma; see this term), which may be the presenting feature in some cases. Stature is normal or above normal, and features of Turner syndrome (see this term) are absent. Etiology Although the etiology is not completely understood, 46,XY CGD results from failure of testicular development due to disruption of the underlying genetic pathways and several genes have been implicated: SRY (gene deletion of or loss-of-function mutations; Yp11.3), NR5A1 (9q33) and DHH (homozygous or compound heterozygous mutations; 12q13.1).
Glaucoma 1, Open Angle, P Omim

Using quantitative PCR, Kawase et al. (2012) analyzed 252 unrelated Japanese NTG patients who had open angle glaucoma and maximum untreated IOPs of 21 mm Hg or less, 202 Japanese controls, 29 NTG patients from North Carolina, and 28 NTG patients from New York. One (0.40%) of the 252 Japanese NTG probands had a 300-kb duplication, chr12:64,803,839-65,098,981 (GRCh37).
Blood Group, Ss Omim

In Stones, symbolized St(a), the junction is from amino acid residue 26 or 28 of delta to residue 59 or 61 of alpha, whereas in Dantu, residue 38 or 39 of delta is joined to residue 71 or 72 of alpha.
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures Omim

Most (60%) had severe ID, 25% had moderate ID, and 15% had mild ID; 28% of patients had ASD. About half (52%) of patients had seizures with a variable age at onset (birth to 9 years), variable frequency, and variable seizure type.

GRIN2B
- Grin2b Related Syndrome Gard
  
  GRIN2B related syndrome is a genetic disorder that causes developmental delay and intellectual disability. Intellectual disability ranges from mild to severe. Other symptoms may include low muscle tone (hypotonia), seizures, behavior problems including autistic features, abnormal movements, a very small head (microcephaly), and developmental regression. Some children have brain malformations that can be seen in brain imaging exams. This disorder is caused by variations (mutations) in the GRIN2B gene, which plays a role in the transmission of signals in the brain. Inheritance is autosomal dominant. Treatment depends on the symptoms seen in each person.
Ogden Syndrome Wikipedia

American Journal of Human Genetics . 89 (1): 28–43. doi : 10.1016/j.ajhg.2011.05.017 .

NAA10, ARHGAP4, DNMT1, BRD2, NAA15, NAA50
- Ogden Syndrome Omim
  
  A number sign (#) is used with this entry because of evidence that Ogden syndrome (OGDNS) is caused by mutation in the NAA10 gene (300013) on chromosome Xq28. Description Ogden syndrome is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Most patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015). Clinical Features Rope et al. (2011) reported 2 families segregating an X-linked recessive condition characterized by postnatal growth failure with severe delays and dysmorphic features characterized by wrinkled forehead, prominent eyes, widely opened anterior and posterior fontanels, downsloping palpebral fissures, thickened lids, large ears, flared nares, hypoplastic alae, short columella, protruding upper lip, and microretrognathia. There were also delayed closing of fontanels and broad great toes. Skin was characterized by redundancy or laxity with minimal subcutaneous fat, cutaneous capillary malformations, and very fine hair and eyebrows.
- Ogden Syndrome Orphanet
  
  Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 Omim

In a Han Chinese male proband with primary hypertrophic osteoarthropathy, who was born of first-cousin parents and was negative for mutation in HPGD, Zhang et al. (2012) performed exome sequencing and identified 28 genes that contained homozygous missense, nonsense, or splicing variants.

SLCO2A1, HPGD
Neurodegeneration With Brain Iron Accumulation 5 Omim

Saitsu et al. (2013) reported 5 unrelated women with NBIA5, including the patient reported by Kimura et al. (2013). The patients ranged in age from 28 to 51 years, and all showed a similar disease course with delayed psychomotor development in infancy or early childhood, very poor or no speech development, and nonprogressive cognitive dysfunction in childhood.

WDR45, ENO2, AMCN, PRKRA, ATG10, PANK2, PANK1, CHMP2B, FBXO7, ATP13A2, PLA2G6, CALB1, YWHAZ, TFRC, PLA2G1B, PRKN, SLC11A2, DMRT1, PLB1
- Beta-Propeller Protein-Associated Neurodegeneration Gene_reviews
  
  Summary Clinical characteristics. Beta-propeller protein-associated neurodegeneration (BPAN) is typically characterized by early-onset seizures, infantile-onset developmental delay, intellectual disability, absent to limited expressive language, motor dysfunction (ataxia), and abnormal behaviors often similar to autism spectrum disorder. Seizure types including generalized (absence, tonic, atonic, tonic-clonic and myoclonic), focal with impaired consciousness, and epileptic spasms, as well as epileptic syndromes (West syndrome and Lennox-Gastaut syndrome) can be seen. With age seizures tend to resolve or become less prominent, whereas cognitive decline and movement disorders (progressive parkinsonism and dystonia) emerge as characteristic findings. Diagnosis/testing. The diagnosis of BPAN is established by identifying on molecular genetic testing: In females. A heterozygous WDR45 germline pathogenic variant; In males. Either a hemizygous WDR45 pathogenic variant or partial deletion of WDR45 .
- Beta-Propeller Protein-Associated Neurodegeneration Gard
  
  Beta-propeller protein-associated neurodegeneration (BPAN) , also known as static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), is a hereditary neurologic disorder. It is part of the group of disorders known as neurodegeneration with brain iron accumulation . This disorder presents with global developmental delay in childhood which becomes progressive in early adulthood. Symptoms include dystonia (a movement disorder resulting in muscular spasms, twisting and repetitive movements) spasticity, parkinsonism (slurred or slow speech, stiffness of the muscles, slow movement, and visible tremors), and cognitive decline. BPAN is caused by mutations in the WDR45 gene. It is inherited in a dominant X-linked manner.
- Beta-Propeller Protein-Associated Neurodegeneration Medlineplus
  
  Beta-propeller protein-associated neurodegeneration (BPAN) is a disorder that damages the nervous system and is progressive, which means that it gradually gets worse. Affected individuals develop a buildup of iron in the brain that can be seen with medical imaging. For this reason, BPAN is classified as a type of disorder called neurodegeneration with brain iron accumulation (NBIA), although the iron accumulation may not occur until late in the disease. Many people with BPAN have recurrent seizures (epilepsy) beginning in infancy or early childhood. Several different types of seizures can occur in this disorder, even in the same individual.
- Beta-Propeller Protein-Associated Neurodegeneration Orphanet
  
  Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.
Myopathy, Myofibrillar, 2 Omim

Electron microscopy showed an intrasarcoplasmic accumulation of an electron-dense granulofilamentous material. Vicart et al. (1996) studied 28 members from 3 families with desmin-related myopathy, 1 of whom had been reported by Fardeau et al. (1978).

CRYAB
- Alpha-B Crystallin-Related Late-Onset Myopathy Orphanet
  
  A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior pole cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopthay changes.
Bladder Outlet Obstruction Wikipedia

(Tenth ed.). Philadelphia, PA. 2015-10-28. ISBN 9781455748365 . OCLC 921886335 .

PTGS2, ADRA1A, NGF, COL3A1, SOD2, NOS3, MMP7, OPTN, HIF1A, ELN, HTR2A, COL1A1, NLRP3, GABPA, IL1B, NFE2L2, PPP1R14A, UBC, POU5F1P3, MIR29C, TGFB1, TIMP1, TNF, TYRP1, MIR29B2, MIR29B1, MIR132, NRP2, VEGFA, PARPBP, NPEPPS, LRIG2, BCL2L10, SLC22A1, MYL12B, MYL12A, WWTR1, PSAT1, SLC22A3, POU2F1, SLC5A2, NRG1, AGT, AKT1, KLK3, BDNF, CASP3, CNR1, CNR2, CYP19A1, DCN, ESR1, GATA6, IL1A, RPS27A, KCNK2, LOX, SMAD3, MECP2, MET, MMP1, PLAG1, ADRB3, POU5F1, PROS1, PTEN, POU5F1P4
Chronic Somogyi Rebound Wikipedia

$b721522 . OCLC 11637296 . (As of 2011-05-28, the electronic text is not open access ). ^ Gerich, J.
Diaper Fetishism Wikipedia

Archived from the original on 2013-09-28 . Retrieved 2011-12-17 . ^ 다 큰 성인이 기저귀 차고 소변을?
Candle Syndrome Wikipedia

. ^ a b c d e f Roberts T, Stephen L, Scott C, di Pasquale T, Naser-eldin A, Chetty M, Shaik S, Lewandowski L, Beighton P (December 28, 2015). "CANDLE SYNDROME: Orodfacial manifestations and dental implications" .

PSMB8, PSMB9, IL1A, IL1B
- Proteasome-Associated Autoinflammatory Syndrome Orphanet
  
  A rare, autosomal recessive autoinflammatory disorder characterized by early-onset erythematous popular/nodular skin eruptions, recurrent fever, possible joint contractures, lipodystrophy, erythematous inflammatory skin changes, joint and muscle involvement (joint contractures, arthralgia, muscle weakness), and hepatosplenomegaly. Epidemiology To date less than 50 cases have been reported in the scientific and medical literature; the distribution is worldwide. Clinical description The disease presents as spectrum with onset ranging from the neonatal period to childhood, with the majority of reported cases occurring in infancy. The principal manifestations are of pernio-like and/or erythematous lesions and periodic fever. Lesions can be annular, nodular or maculopapular involving the hands and feet or periorbital regions, and may be associated with seasonal variation.
- Proteasome-Associated Autoinflammatory Syndrome 1 Omim
  
  A number sign (#) is used with this entry because of evidence that proteasome-associated autoinflammatory syndrome-1 (PRAAS1) is caused by homozygous mutation in the PSMB8 gene (177046) on chromosome 6p21. Digenic forms of PRAAS1 can be caused by heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 (176843) gene on chromosome 14q23 or in the PSMB4 (602177) on chromosome 1q21. Description This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011). This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE).
- Nakajo-Nishimura Syndrome Medlineplus
  
  Nakajo-Nishimura syndrome is an inherited condition that affects many parts of the body and has been described only in the Japanese population. Beginning in infancy or early childhood, affected individuals develop red, swollen lumps (nodular erythema) on the skin that occur most often in cold weather; recurrent fevers; and elongated fingers and toes with widened and rounded tips (clubbing). Later in childhood, affected individuals develop joint pain and joint deformities called contractures that limit movement, particularly in the hands, wrists, and elbows. They also experience weakness and wasting of muscles, along with a loss of fatty tissue (lipodystrophy), mainly in the upper body. The combination of muscle and fat loss worsens over time, leading to an extremely thin (emaciated) appearance in the face, chest, and arms.
- Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy And Elevated Temperature Gard
  
  Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE syndrome) occurs when the immune system attacks the body by mistake. Symptoms usually develop within the first few months of life and may include recurrent fevers and purple colored spots on the skin particularly around the eyes. Loss of body fat, bone, and joint pain also usually occur. Since so few people have been reported with CANDLE syndrome, it is difficult to know how it affects people in the long term. CANDLE syndrome occurs when the PSMB8 gene is not working correctly. Other genes associated with CANDLE syndrome include PSMB4 , PSMA3 , and POMP . It is usually inherited in an autosomal recessive pattern; however, when associated with variants in the POMP gene, may be inherited in an autosomal dominant pattern.
- Nakajo Syndrome Wikipedia
  
  Nakajo syndrome Other names Nodular erythema with digital changes Nakajo syndrome has an autosomal recessive pattern of inheritance . Specialty Medical genetics Nakajo syndrome , also called nodular erythema with digital changes , [1] is a rare autosomal recessive congenital disorder first reported in 1939 by A. Nakajo in the offspring of consanguineous (blood relative) parents. [2] [3] The syndrome can be characterized by erythema (reddened skin), loss of body fat in the upper part of the body, and disproportionately large eyes, ears, nose, lips, and fingers. [1] Contents 1 Genetics 2 Diagnosis 3 Treatment 4 References 5 External links Genetics [ edit ] Nakajo syndrome is inherited in an autosomal recessive manner. [3] This means the defective gene responsible for the disorder is located on an autosome , and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. [ citation needed ] Diagnosis [ edit ] This section is empty. You can help by adding to it . ( August 2017 ) Treatment [ edit ] This section is empty.
Jarisch–herxheimer Reaction Wikipedia

Deutsche Medizinische Wochenschrift . 28 (50): 895–7. doi : 10.1055/s-0028-1139096 . ^ "The Jarisch–Herxheimer reaction" .