Details of Disease | DrugMAP

General Information of Disease (ID: DIS1WLAX)

Disease Name	Bardet-Biedl syndrome 2
Synonyms	Bardet-Biedl syndrome; BBS; BBS2; Bardet-Biedl syndrome type 2; Bardet-Biedl syndrome caused by mutation in BBS2; BBS2 Bardet-Biedl syndrome; Bardet-Biedl syndrome 2
Definition	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene.
Disease Hierarchy	DISTBNZW: Bardet biedl syndrome DIS1WLAX: Bardet-Biedl syndrome 2
Disease Identifiers	MONDO ID MONDO_0014432 MESH ID C537910 UMLS CUI C2936863 OMIM ID 615981 MedGen ID 422453

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLLP	OTFGCB9U	Strong	Biomarker	[1]
BBS2	OTPF9JIB	Definitive	Autosomal recessive	[2]
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References

1	Plasmolipin: genomic structure, chromosomal localization, protein expression pattern, and putative association with Bardet-Biedl syndrome.Mamm Genome. 2001 Dec;12(12):933-7. doi: 10.1007/s00335-001-3035-5.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.