Bardet-Biedl Syndrome 1 (BBS1)

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Disease Ontology 12 DOID:0110123 OMIM 56 209900 OMIM Phenotypic Series 56 PS209900 MeSH 43 D020788 ICD10 32 Q87.89

MedGen 41 C0752166 C2936862 SNOMED-CT via HPO 68 103276001 105997008 111395007 12351004 128306009 128602000 15188001 162294008 193570009 195967001 204739008 205131007 22066006 224958001 228156007 229721007 23986001 24184005 247053007 247578003 258211005 27272007 276411001 28835009 29164008 314407005 33995003 343087000 34911001 367495003 373413006 38341003 399939002 414915002 414916001 419076005 43476002 44513007 48130008 5552004 55827005 563001 57190000 62218008 62415009 62484002 64969001 699222000 73211009 82649003 85102008 87380008 90708001 91138005 95695004 95828007 991000119106 more EFO 17 EFO_0009021 UMLS 71 C0752166 C2936862

UniProtKB/Swiss-Prot : ⁷³ Bardet-Biedl syndrome: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
Bardet-Biedl syndrome 1: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

MalaCards based summary : Bardet-Biedl Syndrome 1, also known as bbs1, is related to bardet-biedl syndrome 10 and bardet-biedl syndrome 12, and has symptoms including ataxia An important gene associated with Bardet-Biedl Syndrome 1 is BBS1 (Bardet-Biedl Syndrome 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Insulin, Globin Zinc and insulin have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and retina, and related phenotypes are aganglionic megacolon and hearing impairment

Disease Ontology : ¹² A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.

NIH Rare Diseases : ⁵² 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.

OMIM : ⁵⁶ Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). (209900)

Wikipedia : ⁷⁴ Bardet-Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and... more...

Clinical features from OMIM:

209900

Search NIH Clinical Center for Bardet-Biedl Syndrome 1

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 1.