Details of Disease

General Information of Disease (ID: DIS7VVDD)

Disease Name Bardet-Biedl syndrome 13
Synonyms MKS1 Bardet-Biedl syndrome; Bardet-Biedl syndrome type 13; BBS13; Bardet-Biedl syndrome caused by mutation in MKS1; Bardet-Biedl syndrome 13
Definition Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene.
Disease Hierarchy
DISTBNZW: Bardet biedl syndrome
DIS7VVDD: Bardet-Biedl syndrome 13
Disease Identifiers
MONDO ID
MONDO_0014441
UMLS CUI
C2673873
OMIM ID
615990
MedGen ID
393032

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
LPO DEHX1DZ Strong Genetic Variation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MKS1 OT83W5PB Definitive Autosomal recessive [2]
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References

1 Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat. 2007 May;28(5):523-4. doi: 10.1002/humu.9489.
2 Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum Genet. 2007 Jun;121(5):591-9. doi: 10.1007/s00439-007-0341-3. Epub 2007 Mar 22.