Details of Disease

General Information of Disease (ID: DISTSZC7)

Disease Name Bardet-Biedl syndrome 4
Synonyms Bardet-Biedl syndrome type 4; Bardet-Biedl syndrome 4; BBS4
Disease Hierarchy
DISTBNZW: Bardet biedl syndrome
DISTSZC7: Bardet-Biedl syndrome 4
Disease Identifiers
MONDO ID
MONDO_0014433
MESH ID
C537912
UMLS CUI
C2936864
OMIM ID
615982
MedGen ID
423627

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
OFD1 OTAZW5TK Limited Biomarker [1]
MYH14 OT1TZEJK Strong Genetic Variation [2]
MYO9A OTE3XHKY Strong Genetic Variation [2]
BBS4 OT0D3JC0 Definitive Autosomal recessive [3]
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References

1 Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.J Clin Invest. 2014 May;124(5):2059-70. doi: 10.1172/JCI71898. Epub 2014 Apr 1.
2 The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23.Genomics. 1999 Jul 15;59(2):150-60. doi: 10.1006/geno.1999.5867.
3 Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat Genet. 2001 Jun;28(2):188-91. doi: 10.1038/88925.