Bardet-Biedl Syndrome 19 (BBS19)

External Ids:

Disease Ontology 12 DOID:0110141 OMIM 56 615996 OMIM Phenotypic Series 56 PS209900 MeSH 43 D020788

ICD10 32 Q87.89 MedGen 41 C3889475 CN220296 SNOMED-CT via HPO 68 228156007 236423003 247578003 258211005 28835009 367506006 414915002 414916001 42399005 48130008 83156004 91138005 more UMLS 71 C3889475

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)

Clinical features from OMIM:

615996

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 19

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 19.