Details of Disease | DrugMAP

General Information of Disease (ID: DISRLPZE)

Disease Name	Bardet-Biedl syndrome 1
Synonyms	Bardet-Biedl syndrome 1; BBS1; Bardet-Biedl syndrome 1, modifier of; Bardet-Biedl syndrome type 1
Definition	A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.
Disease Hierarchy	DISTBNZW: Bardet biedl syndrome DISRLPZE: Bardet-Biedl syndrome 1
Disease Identifiers	MONDO ID MONDO_0008854 MESH ID C537909 UMLS CUI C2936862 OMIM ID 209900 MedGen ID 422452

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CEP290	TT3XBOV	Strong	Biomarker	[1]
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This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CCDC28B	OT1HFHN2	No Known	Autosomal recessive	[2]
TMEM67	OTME92T5	moderate	Genetic Variation	[3]
EHD1	OTDMEKLV	Strong	Biomarker	[4]
KIF7	OT1J6NAW	Strong	Genetic Variation	[5]
MKKS	OTLF5T11	Strong	Genetic Variation	[6]
MKS1	OT83W5PB	Strong	Biomarker	[7]
TRIM32	OTJOV0PG	Strong	Biomarker	[8]
TTC8	OTBGDZBD	Strong	Biomarker	[9]
ARL6	OTLV3SBS	Definitive	Biomarker	[10]
BBS1	OTXSXB1K	Definitive	Autosomal recessive	[11]
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⏷ Show the Full List of 10 DOT(s)

References

1	Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.Hum Mutat. 2007 Apr;28(4):416. doi: 10.1002/humu.9485.
2	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
3	The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.Nat Genet. 2006 Feb;38(2):191-6. doi: 10.1038/ng1713. Epub 2006 Jan 15.
4	Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1).Gene. 1999 Nov 15;240(1):227-32. doi: 10.1016/s0378-1119(99)00395-9.
5	KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet. 2011 Jun;43(6):601-6. doi: 10.1038/ng.826. Epub 2011 May 8.
6	Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.Mol Vis. 2017 Jul 21;23:482-494. eCollection 2017.
7	MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.Nat Genet. 2006 Feb;38(2):155-7. doi: 10.1038/ng1714. Epub 2006 Jan 15.
8	Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.Hum Mutat. 2008 Feb;29(2):240-7. doi: 10.1002/humu.20633.
9	A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Am J Hum Genet. 2010 May 14;86(5):805-12. doi: 10.1016/j.ajhg.2010.04.001. Epub 2010 May 6.
10	The embryonic expression patterns and the knockdown phenotypes of zebrafish ADP-ribosylation factor-like 6 interacting protein gene.Dev Dyn. 2009 Jan;238(1):232-40. doi: 10.1002/dvdy.21832.
11	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.