Bardet-Biedl Syndrome 21 (BBS21)

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OMIM 58 617406 MeSH 45 D020788

MedGen 43 C4319932 CN241836 SNOMED-CT via HPO 70 1151008 162294008 166603001 166643006 205131007 229721007 258211005 267628004 28835009 29164008 312917007 405722004 414915002 414916001 41729002 57190000 62415009 64969001 65956007 75183008 95695004 more

UniProtKB/Swiss-Prot : ⁷⁶ Bardet-Biedl syndrome 21: A form of 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.

MalaCards based summary : Bardet-Biedl Syndrome 21, also known as bbs21, is related to cone-rod dystrophy 16 and bardet-biedl syndrome 2. An important gene associated with Bardet-Biedl Syndrome 21 is C8orf37 (Chromosome 8 Open Reading Frame 37). Affiliated tissues include heart, kidney and uterus, and related phenotypes are obesity and delayed speech and language development

OMIM : ⁵⁸ BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment (Heon et al., 2016; Khan et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (617406)

Clinical features from OMIM:

617406

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 21

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 21.