Bardet-Biedl syndrome

Summary
Definition
A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
Super Class
autosomal recessive disease syndrome
External Links
Disease Ontology
DOID:1935
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
10908 PNPLA6 patatin like phospholipase domain containing 6
54965 PIGX phosphatidylinositol glycan anchor biosynthesis class X
56623 INPP5E inositol polyphosphate-5-phosphatase E
Displaying 1 entry
Gene ID Gene Symbol Description Source
56297 Arl6 ADP-ribosylation factor-like 6

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024