Details of Disease

General Information of Disease (ID: DISQ8309)

Disease Name Bardet-Biedl syndrome 11
Synonyms BBS11; TRIM32 Bardet-Biedl syndrome; Bardet-Biedl syndrome caused by mutation in TRIM32; Bardet-Biedl syndrome type 11; Bardet-Biedl syndrome 11
Definition Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene.
Disease Hierarchy
DIS2BIP8: Congenital nervous system disorder
DISRQKIX: Qualitative or quantitative defects of TRIM32
DISTBNZW: Bardet biedl syndrome
DISQ8309: Bardet-Biedl syndrome 11
Disease Identifiers
MONDO ID
MONDO_0014439
UMLS CUI
C1859569
OMIM ID
615988
MedGen ID
395295

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TRIM32 OTJOV0PG Definitive Autosomal recessive [1]
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References

1 Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc Natl Acad Sci U S A. 2006 Apr 18;103(16):6287-92. doi: 10.1073/pnas.0600158103. Epub 2006 Apr 10.