Details of Disease

General Information of Disease (ID: DISFADNP)

Disease Name Hydrolethalus syndrome 2
Synonyms HLS2; hydrolethalus syndrome 2; KIF7 hydrolethalus syndrome; hydrolethalus syndrome type 2; hydrolethalus syndrome caused by mutation in KIF7
Definition Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene.
Disease Hierarchy
DISX56R3: Hydrolethalus syndrome
DISF9ZRZ: KIF7-related ciliopathy
DISFADNP: Hydrolethalus syndrome 2
Disease Identifiers
MONDO ID
MONDO_0013585
UMLS CUI
C3279899
OMIM ID
614120
MedGen ID
481529

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
KIF7 OT1J6NAW Strong Autosomal recessive [1]
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References

1 Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling. Proc Natl Acad Sci U S A. 2009 Aug 11;106(32):13377-82. doi: 10.1073/pnas.0906944106. Epub 2009 Jul 29.