BBS19
MCID: BRD045
MIFTS: 37
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Bardet-Biedl Syndrome 19 (BBS19)
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 19:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
one consanguineous saudi family has been reported (last curated october 2014) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Fetal diseases Anatomical: Nephrological diseases Eye diseases Gastrointestinal diseases Reproductive diseases Endocrine diseases Neuronal diseases Mental diseases |
UniProtKB/Swiss-Prot :
73
Bardet-Biedl syndrome 19: 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 19, also known as bbs19, is related to ciliopathy and polydactyly, and has symptoms including hyposmia An important gene associated with Bardet-Biedl Syndrome 19 is IFT27 (Intraflagellar Transport 27), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Affiliated tissues include heart, and related phenotypes are intellectual disability and renal insufficiency Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the IFT27 gene on chromosome 22q12. OMIM : 56 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). (615996) |
Human phenotypes related to Bardet-Biedl Syndrome 19:31 (show all 8)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615996UMLS symptoms related to Bardet-Biedl Syndrome 19:hyposmia MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 19:45
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MalaCards organs/tissues related to Bardet-Biedl Syndrome 19:40
Heart
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Articles related to Bardet-Biedl Syndrome 19:
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ClinVar genetic disease variations for Bardet-Biedl Syndrome 19:6
UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 19:73
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Search
GEO
for disease gene expression data for Bardet-Biedl Syndrome 19.
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Cellular components related to Bardet-Biedl Syndrome 19 according to GeneCards Suite gene sharing:
Biological processes related to Bardet-Biedl Syndrome 19 according to GeneCards Suite gene sharing:(show all 16)
Molecular functions related to Bardet-Biedl Syndrome 19 according to GeneCards Suite gene sharing:
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