Details of Disease | DrugMAP

General Information of Disease (ID: DIS2PQ9X)

Disease Name	Bardet-Biedl syndrome 19
Synonyms	Bardet-Biedl syndrome caused by mutation in IFT27; Bardet-Biedl syndrome 19; IFT27 Bardet-Biedl syndrome; Bardet-Biedl syndrome type 19; BBS19
Definition	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene.
Disease Hierarchy	DISTBNZW: Bardet biedl syndrome DIS2PQ9X: Bardet-Biedl syndrome 19
Disease Identifiers	MONDO ID MONDO_0014447 UMLS CUI C3889475 OMIM ID 615996 MedGen ID 855173

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
IFT27	OT3NY6O6	Strong	Autosomal recessive	[1]
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References

1	IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. Hum Mol Genet. 2014 Jun 15;23(12):3307-15. doi: 10.1093/hmg/ddu044. Epub 2014 Jan 31.