BBS1
MCID: BRD010
MIFTS: 62
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Bardet-Biedl Syndrome 1 (BBS1)
Categories:
Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Bardet-Biedl Syndrome 1:
Characteristics:OMIM:56
Inheritance:
autosomal recessive digenic recessive
Miscellaneous:
presence of 4 major features or 3 major and 2 minor features establishes the diagnosis clinical manifestation of some forms of bardet-biedl syndrome requires recessive mutation in 1 of the 6 loci plus an additional mutation in a second locus, or triallelic inheritance HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Mental diseases Eye diseases Gastrointestinal diseases Nephrological diseases Reproductive diseases Endocrine diseases |
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... |
Human phenotypes related to Bardet-Biedl Syndrome 1:31 (show all 47)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:209900UMLS symptoms related to Bardet-Biedl Syndrome 1:ataxia MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 1:45 (show all 14)
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Drugs for Bardet-Biedl Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Bardet-Biedl Syndrome 1:40
Kidney,
Heart,
Retina,
Ovary,
Testes,
Bone,
Cortex
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Articles related to Bardet-Biedl Syndrome 1:(show top 50) (show all 209)
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ClinVar genetic disease variations for Bardet-Biedl Syndrome 1:6 (show top 50) (show all 193)
UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 1:73 (show all 15)
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Search
GEO
for disease gene expression data for Bardet-Biedl Syndrome 1.
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Cellular components related to Bardet-Biedl Syndrome 1 according to GeneCards Suite gene sharing:(show all 14)
Biological processes related to Bardet-Biedl Syndrome 1 according to GeneCards Suite gene sharing:(show all 32)
Molecular functions related to Bardet-Biedl Syndrome 1 according to GeneCards Suite gene sharing:
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