BBS21
MCID: BRD050
MIFTS: 26
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Bardet-Biedl Syndrome 21 (BBS21)
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 21:Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
based on report of 2 unrelated children (last curated march 2017) HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Eye diseases Gastrointestinal diseases Reproductive diseases Nephrological diseases Endocrine diseases Neuronal diseases Mental diseases |
UniProtKB/Swiss-Prot
:
75
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 bardet-biedl syndrome 2 and bardet-biedl syndrome 10. An important gene associated with Bardet-Biedl Syndrome 21 is C8orf37 (Chromosome 8 Open Reading Frame 37). Affiliated tissues include heart, kidney and eye, and related phenotypes are obesity and delayed speech and language development OMIM : 57 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) |
Diseases in the Bardet-Biedl Syndrome family:Diseases related to Bardet-Biedl Syndrome 21 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 21:![]() |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617406Human phenotypes related to Bardet-Biedl Syndrome 21:32 (show all 16)
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MalaCards organs/tissues related to Bardet-Biedl Syndrome 21:41
Heart,
Kidney,
Eye,
Uterus
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UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 21:75
ClinVar genetic disease variations for Bardet-Biedl Syndrome 21:6
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Search
GEO
for disease gene expression data for Bardet-Biedl Syndrome 21.
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