Bardet-Biedl Syndrome 17 (BBS17)

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Disease Ontology 12 DOID:0110139 OMIM® 57 615994 OMIM Phenotypic Series 57 PS209900 MeSH 44 D020788

ICD10 32 Q87.89 MedGen 41 C3714980 CN220306 SNOMED-CT via HPO 68 14821001 224958001 24614000 258211005 27317008 386806002 414915002 414916001 433146000 43476002 43876007 48130008 95695004 more UMLS 71 C3714980

OMIM® : ⁵⁷ 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). (615994) (Updated 05-Mar-2021)

MalaCards based summary : Bardet-Biedl Syndrome 17, also known as bbs17, is related to polydactyly and bardet-biedl syndrome. An important gene associated with Bardet-Biedl Syndrome 17 is LZTFL1 (Leucine Zipper Transcription Factor Like 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Affiliated tissues include kidney, and related phenotypes are situs inversus totalis and global developmental delay

Disease Ontology : ¹² A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21.

UniProtKB/Swiss-Prot : ⁷³ Bardet-Biedl syndrome 17: 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.

Clinical features from OMIM®:

615994 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 17

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 17.