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BBS17
MCID: BRD044
MIFTS: 42
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Bardet-Biedl Syndrome 17 (BBS17)
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 17:
Characteristics:OMIM®:57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
Miscellaneous:
two unrelated families have been reported (last curated october 2014) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Eye diseases Gastrointestinal diseases Nephrological diseases Reproductive diseases Endocrine diseases Neuronal diseases Mental diseases |
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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 20-May-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 eye and 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 : 72 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. |
Human phenotypes related to Bardet-Biedl Syndrome 17:31 (show all 12)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:615994 (Updated 20-May-2021)MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 17:46
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MalaCards organs/tissues related to Bardet-Biedl Syndrome 17:40
Eye,
Kidney
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Articles related to Bardet-Biedl Syndrome 17:
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Genes related to Bardet-Biedl Syndrome 17 (1 elite genes):(show all 13) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Bardet-Biedl Syndrome 17:6
UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 17:72
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Search
GEO
for disease gene expression data for Bardet-Biedl Syndrome 17.
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Cellular components related to Bardet-Biedl Syndrome 17 according to GeneCards Suite gene sharing:(show all 16)
Biological processes related to Bardet-Biedl Syndrome 17 according to GeneCards Suite gene sharing:(show all 24)
Molecular functions related to Bardet-Biedl Syndrome 17 according to GeneCards Suite gene sharing:
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