Details of Disease

General Information of Disease (ID: DIS60BR4)

Disease Name Bardet-Biedl syndrome 22
Synonyms Bardet-Biedl syndrome 20; BBS20; BBS20; Bardet-Biedl syndrome type 20; Bardet-Biedl syndrome caused by mutation in IFT74; IFT74 Bardet-Biedl syndrome
Definition Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene.
Disease Hierarchy
DISTBNZW: Bardet biedl syndrome
DIS60BR4: Bardet-Biedl syndrome 22
Disease Identifiers
MONDO ID
MONDO_0014926
UMLS CUI
C5561936
OMIM ID
617119
MedGen ID
1794146

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
IFT74 OTZBFEDD Definitive Autosomal recessive [1]
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References

1 Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74. Clin Genet. 2021 Jul;100(1):93-99. doi: 10.1111/cge.13962. Epub 2021 Mar 27.