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Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies OMIM

Jejunal perfusion studies showed the jejunum to be in a net secretory state with intact hexose transport, but with an anomalous relation between jejunal sodium and hydrogen transport. ... Congenital Secretory Sodium Diarrhea with Associated Features Muller et al. (2000) stated that only 6 cases of congenital sodium diarrhea had been reported. ... Two of the 5 patients were born with choanal atresia. Muller et al. (2000) cited cases of congenital secretory diarrhea combined with choanal atresia observed in Sweden, Germany, and the Netherlands. ... The risk of death from complications (e.g., dehydration, line-related infections, liver failure) was high, with death in 14 of the 34 patients. Mapping Muller et al. (2000) performed pedigree analysis in 2 Austrian families with congenital sodium diarrhea and demonstrated parental consanguinity and a single common ancestral couple 5 generations earlier. ... Heinz-Erian et al. (2009) performed a genomewide linkage scan in 2 affected and 11 unaffected members of a consanguineous Austrian kindred with syndromic congenital sodium diarrhea, previously reported by Muller et al. (2000), and identified a single region of extended homozygosity on chromosome 19q13; recombination events defined a 6.754-Mb critical interval between rs1363364 and rs2317314.

SPINT2, SLC9A3, GUCY2C, SLC9A3-AS1, SST, SLC9A5, SERPINA13P, SLC9A8, TRIM21, CALR, NR3C1, SLC9A2, SLC9A1, PTGS2, NPR3, COX2, HGF, MTCO2P12
- Diarrhea 8, Secretory Sodium, Congenital OMIM
  
  A number sign (#) is used with this entry because of evidence that congenital secretory sodium diarrhea (DIAR8) is caused by homozygous or compound heterozygous mutation in the NHE3 gene (SLC9A3; 182307) on chromosome 5p15. For discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700). Clinical Features Holmberg and Perheentupa (1985) described a 9-year-old Finnish girl with congenital diarrhea that seemed to be caused by a specific defect in intestinal sodium absorption. The pregnancy was complicated by maternal polyhydramnios, and in the delivery room the patient had a distended abdomen and passed a voluminous watery stool, indicative of intrauterine onset of the diarrhea. Stool analysis showed an abnormally high chloride level, but an even higher sodium concentration.
- Congenital Sodium Diarrhea Orphanet
  
  A rare, genetic, non-syndromic intestinal transport defect characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis. Epidemiology Less than 50 cases have been described to date. Clinical description Presentation is typically prenatal with polyhydramnios, prominent abdominal distension due to dilated fluid-filled loops of the intestine. A watery diarrhea is present after birth, independent of oral feeding (breast or formula) or nil by mouth. The diarrhea can be described as 'non-stopping', and can be mistaken for urine. There are increased bowel sounds at examination, and passing of meconium is never reported.
Angioedema, Hereditary, Type Iii OMIM - Search Hereditary Angioedema case abstracts

Clinical Features Binkley and Davis (2000) reported a 3-generation Italian family with a unique type of hereditary angioedema that was estrogen-dependent. ... They observed the transmission of disease to children from an unaffected female in 2 kindreds. Bork et al. (2000) proposed the term 'hereditary angioedema type 3' (HAE III) for this disorder. ... They suggested that the failure response to therapy observed by Bork et al. (2000) might be related to an underdosed therapeutic regimen. ... In an Italian family with estrogen-dependent angioedema, Binkley and Davis (2000) excluded mutations at the C1 inhibitor locus and in the promoter region of the F12 gene. ... Kranke et al. (2000) suggested that the type discussed by Bork et al. (2000) should be named HAE IV.

F12, SERPING1, KNG1, PLG, GRK6, KLKB1, SPINK6, SERPINA4, ANGPT1, ACE, SMPX, POMC, SERPINF2, INA, RBPJ, SERPINF1, CSHL1, CRP, BDKRB2, C2, C1S, CPQ, MBL3P, MASP2, ABCB6, SSB, VCAM1, TNF, SMUG1, TGM2, IL23A, C4orf3, LINC01194, TGFB3, TFPI, A2M, RO60, TRIM21, ABO, ADM, AHSG, ALB, C4B, F3, NR3C1, HSP90AA1, IL17A, MBL2, NHS, SERPINB2, AAVS1, PLAT, REN, TLX1NB
- Hereditary Angioedema Wikipedia
  
  . ^ Kuoppala A, Lindstedt KA, Saarinen J, Kovanen PT, Kokkonen JO (April 2000). "Inactivation of bradykinin by angiotensin-converting enzyme and by carboxypeptidase N in human plasma".
- Hereditary Angioedema GARD
  
  Hereditary angioedema (HAE) is a disease characterized by recurrent episodes (also called attacks) of severe swelling of the skin and mucous membranes. The age at which attacks begin varies, but most people have their first one in childhood or adolescence. The frequency of attacks usually increases after puberty. Attacks most often affect 3 parts of the body: Skin - the most common sites are the face (such as the lips and eyes), hands, arms, legs, genitals, and buttocks. Skin swelling can cause pain, dysfunction, and disfigurement, although it is generally not dangerous and is temporary. Gastrointestinal tract - the stomach, intestines, bladder, and/or urethra may be involved.
- Hereditary Angioedema Orphanet
  
  Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Epidemiology Prevalence has been estimated at 1/100,000. Clinical description Onset may occur at any age but is most common during childhood or adolescence. Patients present with white, circumscribed nonpruritic edemas that remain for a period of 48 to 72 hours and recur with variable frequency. Edemas may involve the digestive tract resulting in a clinical picture similar to that seen in intestinal occlusion syndrome, sometimes associated with ascites and hypovolemic shock. Laryngeal edema can be life-threatening with a risk of death of 25% in the absence of appropriate treatment.
Protein Kinase, Amp-Activated, Noncatalytic, Gamma-3 OMIM

All 3 subunits are required to yield significant kinase activity (Cheung et al., 2000). Cloning and Expression By screening a human skeletal muscle cDNA library with the C-terminal 201 amino acids of rat beta-1, Cheung et al. (2000) isolated the gamma-3 isoform of the AMP-activated protein kinase. ... Using human skeletal muscle cDNA, Milan et al. (2000) determined the cDNA sequence of human PRKAG3 by RT-PCR and 5-prime RACE analysis. ... Northern blot analysis of human PRKAG3 demonstrated distinct muscle-specific expression, whereas PRKAG1 and PRKAG2 were widely expressed. Milan et al. (2000) noted that the human full-length PRKAG3 cDNA sequence reported by Cheung et al. (2000) encodes an additional 25 amino acids in the N-terminal region and a different sequence in the C-terminal end relative to the sequence described by them. Milan et al. (2000) suggested that alternative splicing occurs in the 5-prime region of the gene, and that experimental data are needed to determine which of the ATG codon(s) are used for initiation of translation. With regard to the difference in the C-terminal end, Milan et al. (2000) believed their sequence to be the correct one as it is consistent with the human genomic sequence as well as the pig coding sequence.
Spinocerebellar Ataxia Type 8 GeneReviews

Onset has been reported from age one to 73 years [Day et al 2000, Ikeda et al 2000a, Juvonen et al 2000, Silveira et al 2000, Felling & Barron 2005, Maschke et al 2005]. ... Common initial symptoms reported are dysarthria and gait instability; life span is typically not shortened [Day et al 2000, Juvonen et al 2000]. Clinical symptoms observed in most individuals with the SCA8 form of ataxia are dysarthria and clumsiness of gait and limb movements [Day et al 2000, Ikeda et al 2000a, Juvonen et al 2000, Cellini et al 2001, Brusco et al 2002, Tazón et al 2002, Topisirovic et al 2002, Mosemiller et al 2003, Schöls et al 2003, Zeman et al 2004, Lilja et al 2005]. ... Tendon reflex hyperactivity and extensor plantar responses are present in some severely affected individuals [Day et al 2000, Ikeda et al 2000a, Juvonen et al 2000]. ... MRI and CT have consistently shown cerebellar atrophy, specifically in the cerebellar hemisphere and vermis in individuals with SCA8 [Day et al 2000, Ikeda et al 2000a, Juvonen et al 2000, Cellini et al 2001, Brusco et al 2002, Tazón et al 2002, Topisirovic et al 2002, Schöls et al 2003, Zeman et al 2004, Lilja et al 2005]. ... No correlation between the size of the expansion and age of onset or disease severity was observed [Day et al 2000, Ikeda et al 2000a, Juvonen et al 2000].

ATXN8, ATXN8OS, TWNK, RAN, KLHL1, CERNA3, C9orf72, PCYT1A, CELF1, BEAN1, ATXN10, SYNE1, ACTB, EIF3F, AR, SLC6A11, PPP2R2B, PDYN, MBNL1, CACNA1A, TK2
- Spinocerebellar Ataxia 8 OMIM
  
  Disease severity appeared to correlate with repeat length and age. Ikeda et al. (2000) reported 6 patients with expanded CTG repeat alleles in the ATXN8OS gene. ... In general, the SCA8 patients showed trunk and limb incoordination, ataxic dysarthria, impaired smooth pursuit and horizontal nystagmus, and significant atrophy of the cerebellar vermis and hemispheres on MRI. Ikeda et al. (2000) noted that the SCA8 phenotype corresponded to autosomal dominant cerebellar ataxia type III (ADCA III).
- Spinocerebellar Ataxia Type 8 Orphanet
  
  Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients. Epidemiology Prevalence is unknown. However, SCA8 accounts for approximately 3% of ADCA cases. Clinical description Other features include dysexecutive disorders and commonly psychiatric disorders. Etiology SCA8 is caused by a trinucleotide repeat on 13q21 that produces a polyglutamine expansion in the ataxin 8 gene ( ATXN8 ). SCA8 is thought to result from RNA-mediated neurotoxicity. Prognosis Prognosis is relatively good.
- Spinocerebellar Ataxia 8 GARD
  
  Spinocerebellar ataxia type 8 (SCA8) is an inherited neurodegenerative condition characterized by slowly progressive ataxia (problems with movement, balance, and coordination). This condition typically occurs in adulthood and usually progresses over decades. Common initial symptoms include dysarthria, slow speech, and trouble walking. Some affected individuals experience nystagmus and other abnormal eye movements. Life span is typically not shortened. This condition is inherited in an autosomal dominant manner, although not all individuals with abnormalities in the disease-causing gene will develop the disease (called reduced penetrance).
Cataract 12, Multiple Types OMIM

Conley et al. (2000) reported a 5-generation family segregating juvenile-onset progressive cataract. ... Visual acuity ranged from moderate to severe myopia in 8 of 11 affected individuals in whom measurements were reported; none had 20/20 visual acuity. Conley et al. (2000) stated that the sutural opacities and cortical changes described in the presurgical 20-year-old female by Kramer et al. (2000) were very similar to the cataracts observed in several family members in their study. ... Conley et al. (2000) performed linkage analysis in 29 members of the 5-generation family with autosomal dominant juvenile-onset cataracts and obtained a maximum 2-point lod score of 3.67 (theta = 0.07) at marker D3S1744 on chromosome 3q21.2-q22.3. ... Molecular Genetics In affected members of a 5-generation family with autosomal dominant juvenile-onset cataract, Conley et al. (2000) identified a missense mutation in the BFSP2 gene (R287W; 603212.0001). ... In affected members of a 4-generation family with autosomal dominant congenital cataract previously described by Kramer et al. (2000), Jakobs et al. (2000) identified an in-frame deletion in the BFSP2 gene (E233del; 603212.0002).

BFSP2, BFSP2-AS1
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant OMIM

Clinical Features Wheeler et al. (2000) described an 8-year-old girl who presented with hundreds of milia; comedone-like lesions; skin-colored and hyperpigmented papules on the face, scalp, ears, neck, upper trunk, and lower arms, along with diffuse scalp hypotrichosis; and pinpoint palm/sole pits. Onset was in early childhood, and the disease was by history present in 6 generations. Wheeler et al. (2000) characterized 18 family members by physical exam and biopsy. The lesions were basaloid follicular hamartomas and other folliculocentric abnormalities. Wheeler et al. (2000) suggested that this unique genodermatosis be referred to as 'dominantly inherited generalized basaloid follicular hamartoma syndrome,' or GBFHS. Inheritance The transmission pattern of generalized basaloid follicular hamartoma syndrome in the family reported by Wheeler et al. (2000) was consistent with autosomal dominant inheritance.
- Generalized Basaloid Follicular Hamartoma Syndrome Orphanet
  
  Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.
Cataract 15, Multiple Types OMIM

All affected individuals had discrete, congenital, isolated, progressive, bilateral, punctate lens opacities limited to mid- and peripheral lamellae; some individuals had asymmetric anterior and posterior polar opacification, and one individual had predominantly cortical cataract, thus prompting Berry et al. (2000) to describe the cataract as polymorphic. Bateman et al. (1986) and Bateman et al. (2000) studied a 4-generation American family of European descent (family ADC2) segregating autosomal dominant congenital cataracts described as embryonal nuclear or pulverulent cortical. ... Geyer et al. (2006) studied 12 members of family ADC2; 10 exhibited variable expressivity of cataract with radiating, vacuolar, or dense opacities in the embryonal nucleus, and 2 had milder cataracts with fine punctate cortical opacities. Mapping Berry et al. (2000) performed linkage analysis on a 4-generation family segregating autosomal dominant cataract. ... In the family segregating autosomal dominant cataract reported by Bateman et al. (1986), in which previously identified cataract loci had been excluded, Bateman et al. (2000) found linkage to chromosome 12, with a maximum lod score of 4.62 with marker D12S90. Molecular Genetics In affected members of a 4-generation pedigree segregating autosomal dominant cataract mapping to chromosome 12q, Berry et al. (2000) identified a heterozygous missense mutation in the MIP gene (T138R; 154050.0001).

MIP
Cataract 31, Multiple Types OMIM

The preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 3; CTPP3.' Clinical Features Yamada et al. (2000) described a Japanese family in which 10 members in 4 generations were affected with autosomal dominant posterior polar cataract. ... Mapping By linkage analysis of the Japanese family with cataract described by Yamada et al. (2000), Yamada et al. (2000) assigned the locus, which they designated CPP3, to chromosome 20p12-q12. ... Shiels et al. (2007) also identified a heterozygous mutation (E161K; 610897.0002) in the CHMP4B gene in affected individuals of the Japanese family previously reported by Yamada et al. (2000) and Yamada et al. (2000). Exclusion Studies In a Japanese family with cataract mapping to chromosome 20p12-q12, Yamada et al. (2000) performed sequence analysis on the entire coding region of the BFSP1 gene (603307), but found no base substitutions or deletions.

CHMP4B, BFSP1
Terminal Osseous Dysplasia OMIM

., 2010). Clinical Features Zhang et al. (2000) identified a novel limb-malformation syndrome in a 4-generation family. ... The phenotype was reminiscent of those described by Bloem et al. (1974) and Horii et al. (1998) in sporadic cases. Bacino et al. (2000) gave a full description of the family reported by Zhang et al. (2000). ... Brunetti-Pierri et al. (2010) restudied the family with terminal osseous dysplasia and pigmentary defects originally reported by Zhang et al. (2000), reviewing clinical and radiologic characteristics. ... Brunetti-Pierri et al. (2010) restudied the family with terminal osseous dysplasia and pigmentary defects originally reported by Zhang et al. (2000), obtaining a maximum multipoint lod score of 2.9 from marker rs1860929 to qter; an identical haplotype was found only in affected individuals. ... In affected members of 3 families segregating terminal osseous dysplasia, 2 of which were previously described by Breuning et al. (2000) and Baroncini et al. (2007), and in 3 sporadic case individuals, who were previously described by Horii et al. (1998), Drut et al. (2005), and Breuning et al. (2000), Sun et al. (2010) identified a causative mutation in the FLNA gene: a 5217G-A transition activated a cryptic splice site, removing the last 48 nucleotides from exon 31 and resulting in a loss of 16 amino acids (300017.0029).

FLNA
- Terminal Osseous Dysplasia With Pigmentary Defects Wikipedia
  
  Terminal osseous dysplasia with pigmentary defects Specialty Dermatology Terminal osseous dysplasia with pigmentary defects is a cutaneous condition characterized by hyperpigmented, atrophic facial macules . [1] It has been associated with FLNA . [2] See also [ edit ] Corneodermatosseous syndrome Osseous choristoma of the tongue List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set . St. Louis: Mosby. p. 897. ISBN 978-1-4160-2999-1 . ^ Sun Y, Almomani R, Aten E, et al. (July 2010). "Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene" . Am. J. Hum. Genet . 87 (1): 146–53. doi : 10.1016/j.ajhg.2010.06.008 . PMC 2896768 . PMID 20598277 . External links [ edit ] Classification D OMIM : 300244 MeSH : C564554 v t e Cytoskeletal defects Microfilaments Myofilament Actin Hypertrophic cardiomyopathy 11 Dilated cardiomyopathy 1AA DFNA20 Nemaline myopathy 3 Myosin Elejalde syndrome Hypertrophic cardiomyopathy 1, 8, 10 Usher syndrome 1B Freeman–Sheldon syndrome DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 May–Hegglin anomaly Troponin Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5 Tropomyosin Hypertrophic cardiomyopathy 3 Nemaline myopathy 1 Titin Hypertrophic cardiomyopathy 9 Other Fibrillin Marfan syndrome Weill–Marchesani syndrome Filamin FG syndrome 2 Boomerang dysplasia Larsen syndrome Terminal osseous dysplasia with pigmentary defects IF 1/2 Keratinopathy ( keratosis , keratoderma , hyperkeratosis ): KRT1 Striate palmoplantar keratoderma 3 Epidermolytic hyperkeratosis IHCM KRT2E ( Ichthyosis bullosa of Siemens ) KRT3 ( Meesmann juvenile epithelial corneal dystrophy ) KRT4 ( White sponge nevus ) KRT5 ( Epidermolysis bullosa simplex ) KRT8 ( Familial cirrhosis ) KRT10 ( Epidermolytic hyperkeratosis ) KRT12 ( Meesmann juvenile epithelial corneal dystrophy ) KRT13 ( White sponge nevus ) KRT14 ( Epidermolysis bullosa simplex ) KRT17 ( Steatocystoma multiplex ) KRT18 ( Familial cirrhosis ) KRT81 / KRT83 / KRT86 ( Monilethrix ) Naegeli–Franceschetti–Jadassohn syndrome Reticular pigmented anomaly of the flexures 3 Desmin : Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I GFAP : Alexander disease Peripherin : Amyotrophic lateral sclerosis 4 Neurofilament : Parkinson's disease Charcot–Marie–Tooth disease 1F, 2E Amyotrophic lateral sclerosis 5 Laminopathy : LMNA Mandibuloacral dysplasia Dunnigan Familial partial lipodystrophy Emery–Dreifuss muscular dystrophy 2 Limb-girdle muscular dystrophy 1B Charcot–Marie–Tooth disease 2B1 LMNB Barraquer–Simons syndrome LEMD3 Buschke–Ollendorff syndrome Osteopoikilosis LBR Pelger–Huet anomaly Hydrops-ectopic calcification-moth-eaten skeletal dysplasia Microtubules Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3 Other Tauopathy Cavernous venous malformation Membrane Spectrin : Spinocerebellar ataxia 5 Hereditary spherocytosis 2, 3 Hereditary elliptocytosis 2, 3 Ankyrin : Long QT syndrome 4 Hereditary spherocytosis 1 Catenin APC Gardner's syndrome Familial adenomatous polyposis plakoglobin ( Naxos syndrome ) GAN ( Giant axonal neuropathy ) Other desmoplakin : Striate palmoplantar keratoderma 2 Carvajal syndrome Arrhythmogenic right ventricular dysplasia 8 plectin : Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex of Ogna plakophilin : Skin fragility syndrome Arrhythmogenic right ventricular dysplasia 9 centrosome : PCNT ( Microcephalic osteodysplastic primordial dwarfism type II ) Related topics: Cytoskeletal proteins This dermatology article is a stub .
- Terminal Osseous Dysplasia MedlinePlus
  
  Terminal osseous dysplasia is a disorder primarily involving skeletal abnormalities and certain skin changes. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers or toes (digits), although not every condition in the spectrum has all of these features. Terminal osseous dysplasia occurs only in females; males with the condition do not survive to birth. The skeletal abnormalities in people with this condition typically include permanently bent fingers and toes (camptodactyly) and underdevelopment (hypoplasia), shortening, or fusion of the bones in the wrists and hands.
- Terminal Osseous Dysplasia-Pigmentary Defects Syndrome Orphanet
  
  Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. Epidemiology It has been described in 18 females, six of whom came from four different generations of the same family. Clinical description Phenotypic expression is very heterogeneous. In the majority of patients, the bone dysplasia is limited to the hands and feet but shortening and/or bowing of the bones of the arms and legs has been reported in severe cases. The pigmentary lesions and digital fibromatosis appear a few months after birth. Etiology The causative gene remains unknown. Genetic counseling The syndrome is transmitted as an in utero male-lethal X-linked dominant trait, explaining the large number of miscarriages reported in the affected families.
Nail Disorder, Nonsyndromic Congenital, 7 OMIM

In most cases, all fingernails and toenails are involved, with some accentuation of the changes in the thumb nails and great toe nails (summary by Hamm et al., 2000 and Krebsova et al., 2000). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050). Clinical Features Hamm et al. (2000) characterized an unusual congenital nail dysplasia in a large kindred from southern Germany. ... Histologic abnormalities included a prominent granular layer of the nail matrix and epithelial strands and buds extending from the nail bed. Hamm et al. (2000) excluded other nail dystrophies in this kindred, including twenty-nail dystrophy (NDNC1; 161050), by differences in clinical and histologic features. Mapping Krebsova et al. (2000) performed linkage analysis in the family reported by Hamm et al. (2000).
- Isolated Congenital Onychodysplasia Orphanet
  
  A rare isolated nail anomaly characterized by congenital unilateral or bilateral nail dysplasia (including micronychia, polyonychia, anonychia, hemionychrogryphosis, and malalignment) commonly involving the index fingers and/or other fingers or also toes, frequently associated with bony anomalies of the affected digits (such as Y-shaped bifurcation of the distal phalanx, brachymesophalangy, or syndactyly). The condition can be sporadic or familial.
- Congenital Onychodysplasia Of The Index Fingers Wikipedia
  
  This article has multiple issues. Please help improve it or discuss these issues on the talk page . ( Learn how and when to remove these template messages ) This article may be too technical for most readers to understand . Please help improve it to make it understandable to non-experts , without removing the technical details. ( November 2020 ) ( Learn how and when to remove this template message ) This article needs attention from an expert on the subject . Please add a reason or a talk parameter to this template to explain the issue with the article. When placing this tag, consider associating this request with a WikiProject . ( November 2020 ) ( Learn how and when to remove this template message ) Congenital onychodysplasia of the index fingers is defined by the presence of the condition at birth, either unilateral or bilateral index finger involvement, variable distortion of the nail or lunula , and polyonychia, micronychia, anonychia , hemionychogryphosis, or malalignment. [1] The original paper was Kikuchi I, Horikawa S, Amano F (November 1974). "Congenital onychodysplasia of the index fingers". Arch Dermatol . 110 (5): 743–6. doi : 10.1001/archderm.1974.01630110037008 .
Cone-Rod Dystrophy 8 OMIM

For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see 120970. Clinical Features Khaliq et al. (2000) described a 2-generation, consanguineous Pakistani family with autosomal recessive cone-rod dystrophy. ... Ismail et al. (2006) reexamined affected members of the Pakistani family with CORD8 previously described by Khaliq et al. (2000). They had suffered loss of color vision, severe photophobia, and epiphora since childhood. ... Molecular Genetics Exclusion Studies By mutation screening in a 2-generation Pakistani family with CORD8, Khaliq et al. (2000) excluded 3 candidate genes, CRABP2 (180231), GNAT2 (139340), and KCNJ10 (602208), as the cause of CORD8. Using additional microsatellite markers in the Pakistani family previously reported by Khaliq et al. (2000), Ismail et al. (2006) excluded mutations in the SEMA4A (607292) and PRPF3 (607301) genes. In 2 affected members of the 2-generation Pakistani family with CORD mapping to chromosome 1, originally studied by Khaliq et al. (2000), Ansar et al. (2015) analyzed all exons of the ATF6 gene (605537) but did not detect any mutations.

CRX, PROM1, ABCA4, GUCY2D, RPGR, GUCA1A, C8orf37, CDHR1, RPGRIP1, RIMS1, PRPH2, RAB28, ADAM9, POC1B, NMNAT1, AIPL1, PITPNM3, CNGA3, UNC119, SEMA4A, CACNA1F, CFAP410, CACNA2D4, ATF6, OPN1MW, TTLL5, DRAM2, RAX2, OPN1LW, H6PD, HSD11B1, AQP4, ALMS1, ATXN7, CNNM4, BDNF, GFAP, SOD1, IL6, NTF3, TST, CD6, CERKL, TNF, CSF3, CEP250, MIR137, GUCA2A, CORD1, TLR4, TNFRSF1B, VCP, IL1B, PTPRC, LAMC2, PRPH, POMC, SAR1B, NGF, NOS3, CSF2, TARDBP, CST3, GDNF, FGF2, ERG, EYS, GAP43, SMN2, CRB1, CTNNB1, C9orf72, RDH12, SMN1, CNTN6, GDE1, LEF1, PSIP1, IFT81, GIT1, HDAC3, SLC25A37, LPAR3, SNURF, CORD8, SLC35A1, SIGLEC7, MSC, RNU1-1, STMN2, ABCG2, LYVE1, NISCH, ADAMTS3, GAL3ST1, ADAMTS4, SNX27, TREM1, AHI1, NCR3, MRGPRX1, COPD, AMIGO3, HES5, PCARE, MIR15A, MIR17, MIR185, MIR20A, MIR21, MIR210, MIR219A1, MIR223, MIR30A, MIR31, VN1R17P, GPR166P, MIR372, MIR375, MIR409, MIR3074, CST12P, MFSD8, GPRC6A, ADAMTS18, CEP290, CASZ1, SPATA7, CCL28, KCNQ5, SAR1A, RGMA, NLN, LGR6, MICAL1, MAP9, LINGO1, KCNV2, MRGPRX3, MRGPRX4, CD200R1, GPR151, RSS, DUSP19, NRG4, VPS13B, OXER1, LCA5, IQGAP1, STAT3, KLF7, KHSRP, EGF, EIF4EBP1, ELN, EPHB2, EPO, F2, FES, FGF1, FN1, FXN, MSTN, GNAT2, GNB1, GRIA1, GRIA2, GRM2, GUCA1B, HCLS1, HLA-DPB1, HLA-DRB1, HMGB1, HRH1, IFNB1, EDA, DPYSL2, CYP19A1, TSPO, ACTN3, AGTR1, AHSG, AIF1, ALOX12, AMD1, AMD1P2, ARL3, ASNS, B2M, CACD, CYBB, CCK, CD38, CD69, CHRM3, CLTA, CRP, CCN2, CTSL, CTSS, CUX1, IGF1, IGSF1, IL2RB, TAC1, SMS, SNRPB, SNRPN, SOAT1, SOX11, SP4, SPP1, STAT1, ACTB, ELOVL4, TCF3, RHO, TFPI, TGFB1, TIMP3, TLR2, TULP1, TULP2, UCHL1, VEGFA, TRPV1, FZD4, S100B, RANGAP1, IL7, MTHFR, ITGAD, KNG1, STMN1, LGALS1, LRP6, MBP, MDK, MIF, CD200, MT1B, MTTP, PTPRF, NOS1, CNTN3, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PLG, MAPK1, PROC, PTEN, LINC02605
- Cone-Rod Dystrophy 18 OMIM
  
  A number sign (#) is used with this entry because of evidence that cone-rod dystrophy-18 (CORD18) is caused by homozygous mutation in the RAB28 gene (612994) on chromosome 4p15. For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see 120970. Clinical Features Roosing et al. (2013) studied a German family in which 3 sibs were diagnosed with cone-rod dystrophy in the second decade of life, with rapidly deteriorating visual acuities and high myopia. Funduscopy showed hyperpigmentation of the fovea, and autofluorescence revealed a slightly hyperfluorescent fovea. Optical coherence tomography (OCT) showed altered photoreceptors in the fovea but intact peripheral photoreceptors.
- Cone-Rod Dystrophy GARD
  
  Cone-rod dystrophy (CRD) is a group of inherited eye disorders that affect the light sensitive cells of the retina called the cones and rods . People with this condition experience vision loss over time as the cones and rods deteriorate. Initial signs and symptoms that usually occur in childhood may include decreased sharpness of vision (visual acuity) and abnormal sensitivity to light (photophobia). These signs are usually followed by blind spots in the central field of vision (scotomas), loss of color perception, and loss of peripheral vision. Most individuals with this condition are legally blind by mid adulthood.
- Macular Degeneration, X-Linked Atrophic OMIM
  
  A number sign (#) is used with this entry because X-linked atrophic macular degeneration can be caused by mutation in the RPGR gene (312610). Clinical Features Ayyagari et al. (2002) described a family in which 10 males had primarily macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. One additional male showed extensive macular degeneration plus peripheral loss of retinal pigment epithelium and choriocapillaries. Full-field electroretinograms (ERGs) showed normal cone and rod responses in some affected males despite advanced macular degeneration. Mapping In a family with X-linked recessive atrophic macular degeneration, Ayyagari et al. (2002) mapped the disease locus to Xp21.1-p11.4, the region where the RPGR gene is situated.
- Cone-Rod Dystrophy 17 OMIM
  
  For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. Clinical Features Kamenarova et al. (2013) studied a 3-generation Romani family segregating autosomal dominant cone-rod dystrophy with a slightly variable but early age of onset, at around 10 years of age. Affected individuals had gradual visual impairment and photophobia; ophthalmoscopy revealed typical signs of CORD including narrowing of retinal vessels, scattered bone-spicule pigmentation in the midperipheral retina, retinal pigment epithelium atrophy, and optic disc pallor. Electroretinography showed reduced photopic and scotopic responses, and visual field examination demonstrated central scotoma. Mapping In a 3-generation Romani family segregating autosomal dominant cone-rod dystrophy (adCORD), in which known loci associated with adCORD had been excluded, Kamenarova et al. (2013) performed a genomewide analysis using short tandem repeat markers and obtained a maximum lod score of 3.31 for a 6.7-Mb region on chromosome 10q26 between markers D10S1757 and D10S1782.
- Cone-Rod Dystrophy 3 OMIM
  
  To evaluate the importance of the ABCA4 gene as a cause of autosomal recessive CORD, Maugeri et al. (2000) studied 5 patients with autosomal recessive CORD and 15 patients with isolated CORD, all from Germany and the Netherlands.
- Cone-Rod Dystrophy 2 OMIM
  
  A number sign (#) is used with this entry because of evidence that cone-rod dystrophy-2 (CORD2) is caused by heterozygous mutation in the CRX gene (602225) on chromosome 19q13. Description Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina (Moore, 1992). In many families, perhaps a majority, central and peripheral chorioretinal atrophy is not found (Tzekov, 1998).
- Cone-Rod Dystrophy 1 OMIM
  
  For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see 120970. Mapping Warburg et al. (1991) described a 20-year-old man with mental retardation and electrophysiologically demonstrated cone-rod dystrophy since childhood. He had hypogonadism and a central postsynaptic hearing impairment. Particularly noteworthy was the finding of deletion of the 18q21.1-qter segment. Three patients with more distal deletions on chromosome 18 did not present retinal dystrophies. This led Warburg et al. (1991) to suggest that a locus for cone-rod dystrophy may be located in the segment 18q21.1-q21.3.
- Cone-Rod Dystrophy, X-Linked, 3 OMIM
  
  A number sign (#) is used with this entry because of evidence that X-linked cone-rod dystrophy-3 (CORDX3) is caused by mutation in the CACNA1F gene (300110) on chromosome Xp11. Description Cone-rod dystrophy is a retinal disorder with predominantly cone involvement. Rod impairment may occur at the same time as the cone impairment or appear later. Patients with CORD usually have reduced visual acuity, photophobia, and color vision defects (summary by Huang et al., 2013). For a discussion of genetic heterogeneity of X-linked cone-rod dystrophy, see 304020.
- Cone-Rod Dystrophy 21 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinal dystrophy with early macular involvement (CORD21) is caused by homozygous or compound heterozygous mutation in the DRAM2 gene (613360) on chromosome 1p13. For a general phenotypic description and discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see 120970. Clinical Features El-Asrag et al. (2015) studied a 5-generation consanguineous Pakistani family segregating autosomal recessive adult-onset retinal dystrophy with early macular involvement. Affected individuals described increasing difficulty with close visual tasks beginning in their thirties. There was progressive loss of visual acuity in all symptomatic individuals; light sensitivity and night blindness were inconsistent features of advanced disease.
- Cone-Rod Dystrophy 9 OMIM
  
  A number sign (#) is used with this entry because of evidence that cone-rod dystrophy-9 (CORD9) is caused by homozygous or compound heterozygous mutation in the ADAM9 gene (602713) on chromosome 8p11. For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. Clinical Features Danciger et al. (2001) described a consanguineous Brazilian family segregating autosomal recessive CORD. Affected family members had childhood-onset visual acuity impairment, which progressed over decades to major loss of central and then peripheral visual function. In the 2 adult family members tested, visual acuity was 20/200 with a preserved midperipheral crescent on visual field testing.
- Retinal Cone Dystrophy 4 OMIM
  
  A number sign (#) is used with this entry because of evidence that retinal cone dystrophy-4 (RCD4) is caused by homozygous mutation in the CACNA2D4 gene (608171) on chromosome 12p13. Clinical Features Wycisk et al. (2006) described 2 sibs with a recessive form of retinal cone dystrophy (RCD4). Symptoms were minimal except for slowly progressive reduction in visual acuity and moderate photophobia. Fundus examination showed nearly normal appearance in both. Color discrimination testing was consistent with defective color vision, and full-field electroretinography (ERG) showed moderately attenuated rod photoreceptor responses and markedly diminished cone responses. Although rod and cone ERGs suggested incomplete stationary night blindness, the authors noted that the disorder in these patients was progressive, not stationary, and concluded that their disease represented a mild cone dystrophy.
- Cone-Rod Dystrophy 11 OMIM
  
  A number sign (#) is used with this entry because of evidence that cone-rod dystrophy-11 (CORD11) is caused by heterozygous mutation in the RAXL1 gene (RAX2, 610362) on chromosome 19p13. For a phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. Clinical Features Yang et al. (2015) studied a 4-generation family in which 6 members had retinal dystrophy. All affected individuals presented with declining visual acuity, although the age at onset of symptoms varied widely, with vision loss reported as early as age 15 years and as late as age 60. Examination of all 4 living patients revealed relative central scotoma on kinetic visual fields and obvious macular changes consistent with cone or cone-rod dystrophy, including small yellow macular deposits and/or macular pigment mottling, as well as waxy disc pallor and attenuated vasculature indicating diffuse dystrophy.
- Cone-Rod Dystrophy 7 OMIM
  
  A number sign (#) is used with this entry because of evidence that cone-rod dystrophy-7 (CORD7) is caused by heterozygous mutation in the RIMS1 gene (606629) on chromosome 6q13. For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. Clinical Features Kelsell et al. (1998) described a 4-generation British family with autosomal dominant cone-rod dystrophy. Affected members first became aware of reduced color vision and visual acuity between the ages of 20 and 40 years. As the disorder progressed, they reported difficulty seeing in bright light.
- Cone-Rod Dystrophy, X-Linked, 1 OMIM
  
  A number sign (#) is used with this entry because X-linked cone-rod dystrophy-1 (CORDX1) and cone dystrophy-1 (COD1) are caused by mutation in an alternative terminal exon 15 (ORF15) of the RPGR gene (312610), which maps to chromosome Xp11. Description X-linked cone-rod dystrophy is a rare, progressive visual disorder primarily affecting cone photoreceptors (Demirci et al., 2002). Affected individuals, essentially all of whom are males, present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. The degree of rod photoreceptor involvement is variable, with increasing degeneration. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset, severity of symptoms, and findings (Hong et al., 1994).
- Cone Rod Dystrophy Orphanet
  
  A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field. Epidemiology The prevalence is estimated at 1 in 40,000 in Europe. Clinical description Cone rod dystrophy (CRD) is characterized by primary cone involvement or, occasionally, by concomitant loss of both cones and rods, explaining the predominant symptoms of CRDs: decreased visual acuity, color vision defects, photoaversion and decreased sensitivity in the central visual field, later followed by progressive loss in peripheral vision and night blindness. The fundus appearance is varaible ranging from normal in the early stages, with only subtle temporal optic nerve pallor, macular pigment migration and atrophy or a bull's-eye maculopathy, to peripheral retinal pigment epithelium atrophy, intra retinal pigmentation migration, arteriolar attenuation, and optic disc pallor as disease progresses. Cone-rod dystrophy (CRD) should be distinguished from rod-cone dystrophy (RCD), also known as retinitis pigmentosa.
- Cone-Rod Dystrophy 10 OMIM
  
  A number sign (#) is used with this entry because of evidence that cone-rod dystrophy-10 (CORD10) can be caused by compound heterozygous mutation in the SEMA4A gene (607292) on chromosome 1q22. For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. Molecular Genetics Abid et al. (2006) screened 135 Pakistani patients with retinitis pigmentosa (RP35; 610282), 25 with cone-rod dystrophy, and 30 with congenital blindness for mutations in the SEMA4A gene. They identified compound heterozygosity for 2 substitutions (607292.0001-607292.0002) in 2 RP and 2 CORD patients. None of the mutations were found in 100 ethnically matched controls. INHERITANCE - Autosomal recessive HEAD & NECK Eyes - Loss of visual acuity, progressive - Loss of color vision, progressive - Night blindness - Loss of peripheral vision - Photophobia, severe - Epiphora, severe - Granular fundus - Macular degeneration - Retinal pigmentation, peripheral MISCELLANEOUS - Allelic with retinitis pigmentosa 35 ( 610282 ) MOLECULAR BASIS - Caused by mutation in the semaphorin 4A gene (SEMA4A, 607292.0001 ) ▲ Close
- Cone-Rod Dystrophy 19 OMIM
  
  A number sign (#) is used with this entry because of evidence that cone-rod dystrophy-19 (CORD19) is caused by homozygous or compound heterozygous mutation in the TTLL5 gene (612268) on chromosome 14q24. For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see 120970. Clinical Features Sergouniotis et al. (2014) studied 5 patients from 4 families with 'cone-first' retinal dystrophy who had mutations in the TTLL5 gene (see MOLECULAR GENETICS). Three unrelated patients had an almost identical clinical and electrophysiologic phenotype, with central and peripheral cone dysfunction and preservation of rod photoreceptor function. Fundus autofluorescence imaging revealed a high-density concentric perifoveal ring surrounding irregular foveal autofluorescence; outside this ring, normal signal was observed.
- Cone-Rod Dystrophy 13 OMIM
  
  A number sign (#) is used with this entry because autosomal recessive cone-rod dystrophy-13 (CORD13) is caused by mutation in the RPGRIP1 gene (605446). For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. Clinical Features Hameed et al. (2003) reported 4 consanguineous Pakistani families with cone-rod dystrophy. Two of the families were large: 1 had 8 affected members over 2 generations, and the other had 8 affected members over 3 generations. The other 2 families had 2 affected sibs each. In all affected patients, there was deterioration in central vision and colorblindness from an early age, and rapid loss of vision between ages 14 and 16 years (visual acuity 1/60).
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 OMIM

For a phenotypic description and a discussion of genetic heterogeneity of this disorder, see ARVD1 (107970). Clinical Features Li et al. (2000) reported a North American family with early-onset arrhythmogenic right ventricular dysplasia (ARVD) and high penetrance. ... Mapping By linkage analysis in a North American family with early-onset arrhythmogenic right ventricular dysplasia, Li et al. (2000) first excluded the 5 previously known ARVD loci, and a novel locus was identified on 10p14-p12. ... Additional genotyping and haplotype analysis identified a shared region of 10.6 cM between markers D10S547 and D10S1653. Molecular Genetics Li et al. (2000) investigated the involvement of the PTPLA gene (610467) in the family with ARVD mapped to 10p by Li et al. (2000).

TGFB3, IFT43
- Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 OMIM
  
  For phenotypic information and evidence of genetic heterogeneity in this disorder, see ARVD1 (107970). Mapping The existence of a novel ARVD locus on chromosome 14, in addition to ARVD1 at 14q23-q24, was suggested by study of 3 small families by Severini et al. (1996). The 3 families were of various descent: Italian, Slovenian, and Belgian. There was a cumulative 2-point lod score of 3.26 for D14S252 with no recombination. With multipoint linkage analysis, a maximal cumulative lod score of 4.7 was obtained in a region between D14S252 and D14S257, mapping ARVD3 to 14q12-q22.
- Familial Isolated Arrhythmogenic Right Ventricular Dysplasia Orphanet
  
  Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.
- Arrhythmogenic Right Ventricular Cardiomyopathy MedlinePlus
  
  Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death. ARVC may not cause any symptoms in its early stages. However, affected individuals may still be at risk of sudden death, especially during strenuous exercise. When symptoms occur, they most commonly include a sensation of fluttering or pounding in the chest (palpitations), light-headedness, and fainting (syncope).
- Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 OMIM
  
  A number sign (#) is used with this entry because of evidence that ARVD11 is caused by heterozygous mutation in the desmocollin-2 gene (DSC2; 125645) on chromosome 18q. Homozygous mutation in the DSC2 gene causes arrhythmogenic right ventricular cardiomyopathy associated with mild palmoplantar keratoderma and woolly hair. For a phenotypic description and a discussion of genetic heterogeneity of ARVD, see ARVD1 (107970). Clinical Features Syrris et al. (2006) reported 4 unrelated families with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). Disease penetrance was incomplete; consequently, not all of the patients fulfilled the diagnostic criteria for ARVD/C established by an international task force.
- Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 OMIM
  
  For phenotypic information and evidence of genetic heterogeneity in this disorder, see ARVD1 (107970). Mapping In studies of 3 families, Rampazzo et al. (1997) mapped a novel ARVD locus to 2q32.1-q32.3, within the chromosomal region including markers D2S152, D2S103, and D2S389. Affected members of the 3 families showed clinical features typical of ARVD according to the diagnostic criteria of McKenna et al. (1994). One family had been previously described by Kirsch et al. (1993). Two instances of juvenile sudden death had occurred and had been found at autopsy to be the result of ARVD. The families were considered unusual in the finding of localized involvement of the left ventricle with left bundle branch block in some affected members.
- Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 OMIM
  
  A number sign (#) is used with this entry because of evidence that this form of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is caused by heterozygous mutations in the PKP2 gene (602861), which encodes plakophilin-2, an essential armadillo repeat protein of the cardiac desmosome, on chromosome 12p11. For phenotypic information and evidence of genetic heterogeneity in this disorder, see ARVD1 (107970). Molecular Genetics On the basis of findings of a lethal defect in cardiac morphogenesis at embryonic day 10.75 in mice homozygous with respect to a deletion mutation of Pkp2 (Grossmann et al., 2004), Gerull et al. (2004) hypothesized that mutations in human PKP2 may account for ARVC. They collected samples from a total of 120 unrelated ARVC probands of Western European descent (101 males and 19 females) who were diagnosed using criteria proposed by McKenna et al. (1994). Gerull et al. (2004) sequenced all 14 PKP exons, including flanking intronic splice sequences, and identified 25 different heterozygous mutations in 32 probands (27 males and 5 females).
- Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 OMIM
  
  A number sign (#) is used with this entry because of evidence that familial arrhythmogenic right ventricular dysplasia-5 (ARVD5) is caused by heterozygous mutation in the TMEM43 gene (612048) on chromosome 3p25. For a general phenotypic description and a discussion of genetic heterogeneity of this disorder, see ARVD1 (107970). Clinical Features Hodgkinson et al. (2013) reported the phenotype and natural history of 258 affected and 154 unaffected members of 15 Newfoundland families with arrhythmogenic right ventricular dysplasia (ARVD) that were previously studied by Merner et al. (2008) and found to carry an S358L mutation in the TMEM43 gene (612048.0001; see MOLECULAR GENETICS). Affected males were hospitalized 4 times more often than affected females and died younger; the temporal sequence from symptom onset to death was prolonged in affected females by 1 to 2 decades. The most prevalent electrocardiographic (ECG) manifestation was poor R-wave progression (PRWP), with affected males twice as likely to develop PRWP as affected females.
- Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 OMIM
  
  A number sign (#) is used with this entry because of evidence that arrhythmogenic right ventricular dysplasia-12 (ARVD12) is caused by heterozygous mutation in the gene encoding junction plakoglobin (JUP; 173325) on chromosome 17q21. For a general phenotypic description and a discussion of genetic heterogeneity of this disorder, see ARVD1 (107970). Clinical Features Asimaki et al. (2007) described a German family in which the father and 3 sons had arrhythmogenic right ventricular cardiomyopathy. The proband experienced syncope at age 39 years. After a documented episode of sustained ventricular tachycardia he was admitted to the hospital for further diagnostic evaluation and management. Electrocardiography demonstrated QRS prolongation, T wave inversion, and late potentials in right precordial leads.
- Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 OMIM
  
  A number sign (#) is used with this entry because of evidence that arrhythmogenic right ventricular dysplasia-13 (ARVD13) is caused by heterozygous mutation in the CTNNA3 gene (607667) on chromosome 10q21. For a discussion of genetic heterogeneity of ARVD, see ARVD1 (107970). Description Arrhythmogenic right ventricular cardiomyopathy/dysplasia is characterized by progressive fibrofatty myocardial replacement, primarily of the right ventricle. The main clinical features are structural and functional abnormalities of the ventricles, electrocardiographic depolarization/repolarization changes, reentrant arrhythmias, and sudden death (summary by van Hengel et al., 2013). Clinical Features Van Hengel et al. (2013) studied an Italian man with ARVD who was diagnosed at 14 years of age during a screening for participation in sports activities, at which time his baseline electrocardiogram (ECG) showed first-degree atrioventricular block and negative T-waves in V1 to V4 in the absence of complete right bundle branch block (RBBB).
- Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 OMIM
  
  A number sign (#) is used with this entry because of evidence that arrhythmogenic right ventricular dysplasia-8 (ARVD8) is caused by heterozygous mutation in the gene encoding desmoplakin (DSP; 125647) on chromosome 6p24. Description ARVD8 is characterized by progressive degeneration of the right ventricular myocardium. Patients may experience life-threatening cardiac arrhythmias and show depolarization, conduction, and repolarization defects on electrocardiography (Rampazzo et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of ARVD, see 107970. Clinical Features Rampazzo et al. (2002) reported a 4-generation Italian family in which the proband experienced cardiac arrest at age 18 due to ventricular fibrillation during physical effort.
2-Methylbutyryl-Coa Dehydrogenase Deficiency OMIM

Clinical Features Andresen et al. (2000) reported a 3-year-old boy, born of consanguineous Pakistani parents, who showed increasing hypotonia and delayed motor development in the second year of life. ... Although both parents and 2 sibs were asymptomatic, the mother was shown also to excrete 2-methylbutyryl glycine. Gibson et al. (2000) reported an American boy of northern European and Eritrean descent with SBCADD. ... Madsen et al. (2006) provided follow-up on the patients reported by Gibson et al. (2000). At age 6 years, the boy showed severe developmental delay and epilepsy. ... Molecular Genetics In a patient with 2-methylbutyryl glycinuria, Andresen et al. (2000) identified a homozygous mutation in the ACADSB gene (600301.0001). Gibson et al. (2000) described heterozygosity for a mutation in ACADSB cDNA (600301.0002) in a patient with 2-methylbutyryl glycinuria.

ACADSB
- 2-Methylbutyryl-Coa Dehydrogenase Deficiency GARD
  
  2-methylbutyryl-CoA dehydrogenase deficiency is an organic acid disorder in which individuals lack adequate levels of an enzyme called 2-methylbutyryl-CoA dehydrogenase. This enzyme assists in the processing of a particular amino acid called isoleucine. The inability to process isoleucine correctly leads to the buildup of the amino acid in the body. The buildup can cause a variety of health problems, which vary widely from severe and life-threatening to mild or absent. Signs and symptoms of the disorder can begin a few days after birth or later in childhood.
- 2-Methylbutyryl-Coa Dehydrogenase Deficiency Orphanet
  
  A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.
- Short/branched Chain Acyl-Coa Dehydrogenase Deficiency MedlinePlus
  
  Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency (also known as 2-methylbutyryl-CoA dehydrogenase deficiency) is a rare disorder in which the body is unable to process proteins properly. Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for the body. People with SBCAD deficiency cannot process a particular amino acid called isoleucine. Most cases of SBCAD deficiency are detected shortly after birth by newborn screening, which identifies abnormal levels of certain compounds in the blood. In individuals with this condition, a compound called 2-methylbutyryl carnitine is elevated in the blood and another called 2-methylbutyrylglycine is elevated in the urine (2-methylbutyrylglycinuria).
- 2-Methylbutyryl-Coa Dehydrogenase Deficiency Wikipedia
  
  2-Methylbutyryl-CoA dehydrogenase deficiency Other names 2-Methylbutyryl glycinuria or Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD), [1] 2-Methylbutyryl-CoA 2-Methylbutyryl-CoA dehydrogenase deficiency , is an autosomal recessive metabolic disorder . [2] It causes the body to be unable to process the amino acid isoleucine properly. Initial case reports identified individuals with developmental delay and epilepsy , however most cases identified through newborn screening have been asymptomatic . Contents 1 Signs and symptoms 2 Cause 3 Diagnosis 4 Treatment 5 References 6 External links Signs and symptoms [ edit ] SBCADD is included as a secondary target condition in most newborn screening programs, as the key analyte is the same as is used to identify isovaleric acidemia . [3] [4] Most cases have been Hmong individuals, who are asymptomatic . [5] There are isolated case reports where individuals have been identified with SBCADD in addition to developmental delay and epilepsy . It is currently unclear what the complete clinical presentation of SBCADD looks like. There is some concern that these cases with additional symptoms may reflect an ascertainment bias rather than being a true representation of the clinical spectrum of the disease. [1] Currently, there is no accepted treatment, as most affected individuals do not require any.
Hyaluronan Metabolism, Defect In OMIM

Clinical Features Ramsden et al. (2000) reported a boy with generalized folding and thickening of the skin, which had been recognized by sonogram prenatally and had been striking since birth. ... Muscle biopsy revealed no significant abnormality. Ramsden et al. (2000) found that the patient's skin contained gross accumulation of hyaluronan, and the serum concentration of hyaluronan was markedly elevated (up to 3100 mug/L) during infancy. ... Application of topical corticosteroids appeared to hasten wound healing and diminish local recurrence of hyaluronan accumulation. Ramsden et al. (2000) stated that this disorder is clinically distinct from mucopolysaccharidosis type IX (601492), which also features hyaluronidase deficiency. ... Furthermore, this patient had short stature, periarticular soft tissue masses, and acetabular erosions, all features not present in the patient reported by Ramsden et al. (2000). Animal Model Prompted by the similarity between the clinical findings in their patient and the dermatologic findings in the Chinese shar-pei dog, Ramsden et al. (2000) demonstrated that plasma hyaluronan concentrations were higher in shar-pei dogs than in control dogs.
Cardiomyopathy, Dilated, 1j OMIM

Clinical Features Schonberger et al. (2000) described 2 kindreds with autosomal dominant transmission and age-related penetrance of both sensorineural hearing loss and dilated cardiomyopathy (DCM) in the absence of other disorders. ... Mapping Using DNA samples from their larger kindred (MCE) of 29 individuals to perform a genomewide linkage study, Schonberger et al. (2000) obtained a maximum lod of 4.88 at D6S2411 on chromosome 6q23-q24. ... In a kindred (MCE) with dilated cardiomyopathy and heart failure preceded by sensorineural hearing loss mapping to 6q23-q24, previously described by Schonberger et al. (2000), Schonberger et al. (2005) performed fine mapping that narrowed the critical interval to a 2.0-Mb region containing 8 known genes and several EST clusters. Molecular Genetics In a large kindred (MCE) with dilated cardiomyopathy and hearing loss linked to chromosome 6q23-q24, Schonberger et al. (2000) analyzed the candidate gene epicardin (603306), which encodes a transcription factor expressed in the myocardium and cochlea, but no mutations were identified. In a kindred (MCE) with dilated cardiomyopathy and heart failure preceded by sensorineural hearing loss originally described by Schonberger et al. (2000), Schonberger et al. (2005) analyzed the 3 candidate genes within a 2.0-Mb critical region of linkage that are expressed in both heart and cochlea, EYA4 (603550), SGK (602958), and TCF21 (603306), and identified a deletion in the EYA4 gene (603550.0003) that was present in all affected family members and absent from 300 control chromosomes.

EYA4, TARID
- Sensorineural Deafness With Dilated Cardiomyopathy Orphanet
  
  Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.
Bardet-Biedl Syndrome 6 OMIM

Description BBS6 is an autosomal recessive disorder with cardinal features of postaxial polydactyly, retinitis pigmentosa, kidney defects, obesity, and mental retardation (Slavotinek et al., 2000). Zaghloul and Katsanis (2009) estimated that mutations in the MKKS gene account for 5.8% of the total BBS mutational load. ... Clinical Features Slavotinek et al. (2000) described patients from 4 families with BBS6. ... Molecular Genetics Slavotinek et al. (2000) and Katsanis et al. (2000) identified mutations in the MKKS gene in patients with BBS. Slavotinek et al. (2000) ascertained 34 unrelated probands with classic features of BBS including retinitis pigmentosa, obesity, and polydactyly. ... Three of the probands were from Newfoundland and were also included in the study of Katsanis et al. (2000). Slavotinek et al. (2000) sought mutations in the MKKS gene because of phenotypic similarities between McKusick-Kaufman syndrome and Bardet-Biedl syndrome.

MKS1, BBS10, SDCCAG8, LZTFL1, BBIP1, CEP290, ARL6, IFT27, BBS2, MKKS, BBS4, BBS1, TTC8, ALMS1, IFT172, C8orf37, NPHP1, TMEM67, TBC1D32, BBS7, TRIM32, BBS9, BBS5, BBS12, TRAPPC3, ASTN2, PIGX, CEP19, ZDHHC24, CCDC28B, LEP, GLIS2, RTEL1, PLLP, PYY3, SULT1A4, PEG13, AZIN1, STOML3, RIN2, MAGEL2, CBLL2, MARVELD2, MYO3B, INPP5E, USP35, MUL1, WDPCP, IFT74, CEP131, SCAPER, INVS, NPY2R, NPY, NMB, NDN, MYO9A, MYO7A, RAB8A, KIFC3, KIF2A, INSR, IL18, GPT, GFAP, ERG, CCT, TNFRSF11B, PRKN, PCM1, ADIPOQ, CEP164, STUB1, FEM1B, RAPGEF5, IQCB1, FEZ1, TRPV1, PDE6B, VEGFA, SULT1A3, RHO, RFX1, RCVRN, PECAM1, SLX1A-SULT1A3
- Bardet-Biedl Syndrome 21 OMIM
  
  A number sign (#) is used with this entry because of evidence that Bardet-Biedl syndrome-21 (BBS21) is caused by homozygous mutation in the C8ORF37 gene (614477) on chromosome 8q22. Mutation in the C8ORF37 gene can also cause cone-rod dystrophy (CORD16; 614500) and isolated retinitis pigmentosa (RP64; 614500). Description BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment (Heon et al., 2016; Khan et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Heon et al. (2016) studied a 17-year-old Caucasian girl, born to consanguineous parents, who exhibited features that met the diagnostic criteria for Bardet-Biedl syndrome (BBS), including slowly progressive rod-cone dystrophy, 3-limb postaxial polydactyly, near-obesity (BMI, 29.1), mild learning difficulty, abnormally positioned uterus, and horseshoe kidney.
- Bardet-Biedl Syndrome 4 OMIM
  
  A number sign (#) is used with this entry because Bardet-Biedl syndrome-4 (BBS4) is caused by homozygous mutation in the BBS4 gene (600374) on chromosome 15q24. Description BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Iannaccone et al. (2005) described 3 patients with BBS4 from an Italian family (Mykytyn et al., 2001).
- Bardet-Biedl Syndrome 1 OMIM
  
  In 2 patients with Bardet-Biedl syndrome, Lorda-Sanchez et al. (2000) identified 2 uncommon manifestations: situs inversus in one and Hirschsprung disease in the other. ... The patient with mutations in the MKKS gene (NF-B5) had previously been reported by Katsanis et al. (2000) as having BBS6 (605231), thus illustrating the difficulty in distinguishing these 2 disorders.
- Bardet–biedl Syndrome Wikipedia
  
  "Laurence-Moon-Biedl syndrome" and "Laurence-Moon-Biedl-Bardet" redirect here. Not to be confused with Laurence–Moon syndrome . Bardet–Biedl syndrome Other names Biedl-Bardet Syndrome [1] This condition is often inherited via autosomal recessive manner (including digenic recessive); but epigenetic phennomena also cause some of the variation seen in BBS Specialty Medical genetics Bardet–Biedl syndrome ( BBS ) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy , polydactyly , central obesity , hypogonadism , and kidney dysfunction in some cases. [2] Historically, slower mental processing has also been considered a principal symptom but is now not regarded as such. Contents 1 Signs and symptoms 1.1 Relation to other rare genetic disorders 2 Pathophysiology 3 Diagnosis 4 Eponym 5 References 6 External links Signs and symptoms [ edit ] Bardet–Biedl syndrome is a pleiotropic disorder with variable expressivity and a wide range of clinical variability observed both within and between families. The most common clinical features are rod–cone dystrophy , with childhood-onset night-blindness followed by increasing visual loss; postaxial polydactyly ; truncal obesity that manifests during infancy and remains problematic throughout adulthood; varying degrees of learning disabilities; male hypogenitalism and complex female genitourinary malformations; and renal dysfunction, a major cause of morbidity and mortality.
- Bardet-Biedl Syndrome GARD
  
  Bardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod dystrophy ; extra fingers or toes (polydactyly); truncal obesity; decreased function of the male gonads (hypogonadism); kidney abnormalities; and learning difficulties. Mutations in many genes are known to cause Bardet-Biedl syndrome and inheritance is usually autosomal recessive. Treatment depends on the symptoms present in each person.
- Bardet-Biedl Syndrome 13 OMIM
  
  A number sign (#) is used with this entry because of evidence that Bardet-Biedl syndrome-13 (BBS13) is caused by compound heterozygous mutation in the MKS1 gene (609883) on chromosome 17q22. Description BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa (Leitch et al., 2008; Xing et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Xing et al. (2014) reported a Chinese boy with BBS13. Although clinical details were not provided, the child was noted to have typical symptoms, such as retinitis pigmentosa, obesity, and polydactyly.
- Bardet-Biedl Syndrome Orphanet
  
  Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. Epidemiology Its prevalence in Europe is estimated at between 1/125,000 and 1/175,000. Clinical description This disorder is characterized by a combination of clinical signs: obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities, many of which appear several years after disease onset. Clinical expression is variable but most patients manifest the majority of clinical signs during the disease course. Pigmentary retinopathy is the only constant clinical sign after childhood.
- Bardet-Biedl Syndrome 2 OMIM
  
  A number sign (#) is used with this entry because Bardet-Biedl syndrome-2 (BBS2) is caused by homozygous or compound heterozygous mutations in the BBS2 gene (606151) on chromosome 16q13. Description BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment (Innes et al., 2010). Mutation in the BBS2 gene is the third most frequent cause of BBS, accounting for approximately 8% of cases (Zaghloul and Katsanis, 2009). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Kwitek-Black et al. (1993) studied a large inbred Bedouin family from the Negev region of Israel (pedigree 1) in which Bardet-Biedl syndrome was linked to chromosome 16q21.
- Bardet-Biedl Syndrome 17 OMIM
  
  A number sign (#) is used with this entry because Bardet-Biedl syndrome-17 (BBS17) is caused by homozygous or compound heterozygous mutation in the LZTFL1 gene (606568) on chromosome 3p21. Description BBS17 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Deffert et al. (2007) studied 2 sibs with Bardet-Biedl syndrome (BBS) from a consanguineous Algerian family.
- Bardet-Biedl Syndrome 3 OMIM
  
  Additionally, the obesity in several BBS3 patients has been reversible with caloric restriction and exercise (Young et al., 1998; Ghadami et al., 2000). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). ... Patients had polydactyly limited to the lower limbs, average IQ, and obesity reversible by caloric restriction and/or exercise. Ghadami et al. (2000) reported an Iranian family with BBS3 in 7 members.
- Bardet-Biedl Syndrome 19 OMIM
  
  A number sign (#) is used with this entry because of evidence that Bardet-Biedl syndrome-19 (BBS19) can be caused by homozygous mutation in the IFT27 gene (615870) on chromosome 22q12. One such family has been reported. Description BBS19 is an autosomal recessive ciliopathy characterized by obesity, intellectual disability, polydactyly, renal failure, retinitis pigmentosa, and hypogonadism (Aldahmesh et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Aldahmesh et al. (2014) reported 2 sibs with BBS from a consanguineous Saudi family. The older of the sibs was a 15-year-old boy with morbid obesity, mild intellectual disability, polydactyly of all extremities, borderline renal failure, retinitis pigmentosa, and hypogonadism.
- Bardet-Biedl Syndrome 18 OMIM
  
  A number sign (#) is used with this entry because of evidence that Bardet-Biedl syndrome-18 (BBS18) can be caused by homozygous mutation in the BBIP1 gene (613605) on chromosome 10q25. One such patient has been reported. Description BBS18 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, kidney failure, and cognitive disability (Scheidecker et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Scheidecker et al. (2014) studied a patient with Bardet-Biedl syndrome (BBS) who was the only affected sib of 4 born to consanguineous Italian parents. He had been diagnosed at age 49 based on the presence of 4 major features (retinitis pigmentosa, obesity, kidney failure, cognitive disability) and 1 minor feature (brachydactyly).
- Bardet-Biedl Syndrome 16 OMIM
  
  A number sign (#) is used with this entry because Bardet-Biedl syndrome-16 (BBS16) is caused by homozygous or compound heterozygous mutations in the SDCCAG8 gene (613524) on chromosome 1q43. Mutations in the SDCCAG8 gene can also result in Senior-Loken syndrome-7 (613615), an autosomal recessive ciliopathy. Description BBS16 is an autosomal recessive ciliopathy characterized by retinal degeneration, obesity, renal disease, and cognitive impairment. Although polydactyly is considered a primary feature of BBS overall, it has not been reported in any BBS16 patient (Billingsley et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).
- Bardet-Biedl Syndrome 10 OMIM
  
  A number sign (#) is used with this entry because Bardet-Biedl syndrome-10 (BBS10) is caused by homozygous or compound heterozygous mutation in the BBS10 gene (610148) on chromosome 12q21. Description BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia (Stoetzel et al., 2006). BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients (Stoetzel et al., 2006; Zaghloul and Katsanis, 2009). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features In 6 patients with molecularly confirmed BBS, including 3 patients with BBS10, Scheidecker et al. (2015) found a cone-rod pattern of dysfunction.
- Bardet-Biedl Syndrome 9 OMIM
  
  A number sign (#) is used with this entry because Bardet-Biedl syndrome-9 (BBS9) is caused by homozygosity or compound heterozygosity for mutations in the PTHB1 gene (607968) on chromosome 7p14. Description BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and mental retardation (Abu-Safieh et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Abu-Safieh et al. (2012) reported 3 sibs with BBS9 from a consanguineous Arab family. One sib had most of the major features of the disorder, including obesity, mental retardation, renal disease, polydactyly, and retinitis pigmentosa, but the other 2 sibs had only retinitis pigmentosa with no additional features.
- Bardet-Biedl Syndrome 11 OMIM
  
  A number sign (#) is used with this entry because of evidence that Bardet-Biedl syndrome-11 (BBS11) is caused by mutation in the TRIM32 gene (602290) on chromosome 9q33. One such family has been reported. Description BBS11 was diagnosed in members of a single Israeli Bedouin family based on the presence of at least 3 of the following features: obesity, polydactyly, renal anomalies, retinopathy, hypogonadism, and learning disabilities (Chiang et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Molecular Genetics Chiang et al. (2006) studied a consanguineous Bedouin family with 4 sibs with BBS in which linkage studies had failed to identify a disease locus. High-density SNP genotyping identified a 2.4-Mb region of homozygosity linked to the phenotype.
- Bardet-Biedl Syndrome 8 OMIM
  
  A number sign (#) is used with this entry because Bardet-Biedl syndrome-8 (BBS8) is caused by homozygous mutations in the TTC8 gene (608132) on chromosome 14q31. Description BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay (Ansley et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Ansley et al. (2003) identified 3 families, 1 of Pakistani and 2 of Saudi Arabian lineage, with BBS8. Affected members had retinitis pigmentosa, obesity, postaxial polydactyly of at least 2 limbs, brachycephaly, hypogonadism, speech impediment, and developmental delay.
- Bardet-Biedl Syndrome 5 OMIM
  
  Another was a compound heterozygote for mutations in the MKKS gene (604896.0007 and 604896.0008) and had been previously reported by Katsanis et al. (2000) as having BBS6 (605231). Moore et al. (2005) concluded that the features in this population did not support the notion that BBS and LMS are distinct.
- Bardet-Biedl Syndrome 12 OMIM
  
  A number sign (#) is used with this entry because Bardet-Biedl syndrome-12 (BBS12) is caused by homozygous or compound heterozygous mutation in the BBS12 gene (610683) on chromosome 4q27. Description BBS12 is a clinically pleiotropic autosomal recessive ciliopathy. The patients with BBS12 studied by Stoetzel et al. (2007) and Harville et al. (2010) met the diagnostic criteria of Beales et al. (1999), which required the presence of either 4 primary features, including rod-cone dystrophy, polydactyly, obesity, learning disabilities, hypogonadism (in males), and/or renal anomalies; or 3 primary plus 2 secondary features (e.g., developmental delay, ataxia, cataracts). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Dulfer et al. (2010) reported 2 female sibs with BBS resulting from compound heterozygous truncating mutations in the BBS12 gene.
- Bardet-Biedl Syndrome 14 OMIM
  
  A number sign (#) is used with this entry because of evidence that Bardet-Biedl syndrome-14 (BBS14) is caused by homozygous mutation in the CEP290 gene (610142) on chromosome 12q21. One such patient has been reported. Description BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Molecular Genetics In an 11-year-old female with Bardet-Biedl syndrome from a consanguineous Saudi Arabian family, Leitch et al. (2008) identified homozygosity for a nonsense mutation in the CEP290 gene (610142.0013). The proband also carried a complex allele of the MKS3 gene (609884.0012) in heterozygosity.
- Bardet-Biedl Syndrome 20 OMIM
  
  A number sign (#) is used with this entry because of evidence that Bardet-Biedl syndrome-20 (BBS20) is caused by compound heterozygous mutation in the IFT74 gene (608040) on chromosome 9p21. One such patient has been reported. Description BBS20 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability (Lindstrand et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features Lindstrand et al. (2016) reported a 36-year-old man (AR672-04) with BBS. The patient had obesity, polydactyly, hypogonadism, intellectual disability, microcephaly, and retinitis pigmentosa.
- Bardet-Biedl Syndrome 15 OMIM
  
  A number sign (#) is used with this entry because Bardet-Biedl syndrome-15 (BBS15) is caused by homozygous mutation in the WDPCP gene (613580) on chromosome 2p15. One such patient has been reported. Description BBS15 is a form of BBS caused by mutation in the WDPCP gene, a planar cell polarity gene (Kim et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Molecular Genetics In a patient with a clinical diagnosis of BBS, Kim et al. (2010) identified a homozygous mutation in the WDPCP gene (613580.0001). Both parents and an unaffected sib were heterozygous for the mutation.
- Bardet-Biedl Syndrome 7 OMIM
  
  A number sign (#) is used with this entry because Bardet-Biedl syndrome-7 (BBS7) is caused by homozygous mutation in the BBS7 gene (607590) on chromosome 4q27. Description BBS7 is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity, renal anomalies, and hypogenitalism (Harville et al., 2010). Zaghloul and Katsanis (2009) estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%. For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). Clinical Features The 4 affected children with BBS7 from the consanguineous family studied by Najmabadi et al. (2011) had severe intellectual disability, polydactyly, and obesity.
Enhanced S-Cone Syndrome OMIM

The latter condition is known as Goldmann-Favre syndrome. Haider et al. (2000) suggested that the altered ratio of S- to L/M-cone photoreceptor sensitivity in ESCS may be due to abnormal cone cell fate determination during retinal development. ... Cones are generated relatively early during retinal development, whereas rods are born during a comparatively late phase (Cepko, 2000) as far as the development of the retina is concerned. Gerber et al. (2000) studied members of a highly consanguineous endogamous population of Crypto-Jews living in a mountainous area of Portugal with what may have been enhanced S-cone syndrome. ... Because of the closed nature of the population, Gerber et al. (2000) were not able to perform S-cone testing. ... Gerber et al. (2000) identified an R311Q mutation in the NR2E3 gene (604485.0005) in a group of Crypto-Jews (Marranos) in Portugal with what may have been ESCS: because of the closed nature of the population, Gerber et al. (2000) were not able to perform S-cone testing, but they noted that Haider et al. (2000) had identified the R311Q mutation in 13 of 29 unrelated patients (44.8%) who were thought to have ESCS.

NR2E3
- Goldmann-Favre Syndrome Orphanet
  
  Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis). Epidemiology Less than 20 cases have been reported so far, some of them born to consanguineous families. Both sexes seem equally affected. Clinical description The onset is usually in childhood. GFS manifests with progressive loss of visual acuity and night blindness. Peripheral vision can be decreased. Cataract is a frequent complication.
- Goldmann-Favre Syndrome GARD
  
  Goldmann-Favre syndrome , also known as the severe form of enhanced S-cone syndrome, is a inherited eye disease that affects the light-sensitive part of the eye ( retina ). Within the retina are "red," "blue," and "green" cones which allow us to see colors properly; and rods which allows us to see in dim light. People with Goldmann-Favre syndrome are born with an overabundance of blue cones, a reduced number of red and green cones, and few, if any, functional rods. As a result they experience an increased sensitivity to blue light, varying degrees of red and green cone vision, night blindness occurring from early life, vision loss, and retinal degeneration. Goldmann-Favre syndrome can be caused by mutations in the NR2E3 gene and is inherited in an autosomal recessive fashion.Treatment may include laser photocoagulation and medication, such as acetazolamide , dorzolamide and cyclosporin A .
Dermatitis, Atopic, 6 OMIM

For a clinical description of atopic dermatitis and an overview of linkage studies, see 603165. Mapping Beyer et al. (2000) tested for the association and linkage between atopic dermatitis and 5 chromosomal regions: 5q31-q33, 6p21.3, 12q15-q24.1, 13q12-q31, and 14q11.2/14q32.1-q32.3. Marker analysis was performed in 2 Caucasian populations: (i) 192 unrelated German children with atopic dermatitis and 59 nonatopic children, all from a German birth cohort study; parental DNA was tested in 77 of 192 children with atopic dermatitis; (ii) 40 Swedish families with at least 1 family member with atopic dermatitis selected from the International Study of Asthma and Allergy in Children. Beyer et al. (2000) observed evidence for association with the markers D5S436 and D5S643 (1 cM upstream from D5S436) on chromosome 5q31-q33 in the German population. Beyer et al. (2000) noted that Meyers et al. (1994) and Postma et al. (1995) had found linkage of high total serum IgE and bronchial hyperresponsiveness, respectively, to chromosome 5q31.1-q33.3, with the most significant finding for the marker D5S436, the same marker that Beyer et al. (2000) found to be associated with atopic dermatitis. Beyer et al. (2000) also observed linkage for atopic dermatitis to markers on 13q12-q14 (ATOD5; 605844).
Allantoicase OMIM

Cloning and Expression Vigetti et al. (2000) cloned the first vertebrate cDNA of allantoicase (ALLC) from the amphibian Xenopus laevis and found that its sequence showed high homology with the sequences of allantoicase in yeast. Using the sequence of the Xenopus cDNA, Vigetti et al. (2000) isolated a human ALLC cDNA from a fetal spleen cDNA library and an adult kidney EST clone. ... Gene Function In mammals, the uric acid degradation pathway ends with the formation of allantoin and allantoicase activity is absent (Noguchi et al., 1979). Vigetti et al. (2000) suggested that the absence of human ALLC activity results from an incorrect splicing mechanism. ... Mapping Using a somatic cell hybrid panel, Vigetti et al. (2000) mapped the human ALLC gene to chromosome 2.
Mental Retardation, X-Linked, Syndromic, Martin-Probst Type OMIM

Clinical Features Martin et al. (2000) reported 3 related males with congenital sensorineural hearing loss, mental retardation, short stature, congenital umbilical hernia, facial dysmorphism, abnormal teeth, widely spaced nipples, and abnormal dermatoglyphics. ... Variable renal and genitourinary abnormalities were found in this family (Martin et al., 2000; Probst et al., 2004). The youngest patient showed congenital bifid scrotum, small undescended testicles and phallus, chordee, and absence of the vas deferens and epididymis. ... Inheritance The transmission pattern in the family with X-linked mental retardation reported by Martin et al. (2000) was consistent with X-linked recessive inheritance. Mapping Martin et al. (2000) determined that the 3 males with the deafness-mental retardation syndrome described by them shared a haplotype between DXS1003 and DXS1220, a 68-Mb interval spanning Xq1-q21. In the carrier mothers of the 3 affected males reported by Martin et al. (2000), Probst et al. (2004) found skewed X inactivation.

RAB40AL
- Deafness-Intellectual Disability Syndrome, Martin-Probst Type Orphanet
  
  A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia.