Details of Disease

General Information of Disease (ID: DIS3D9MI)

Disease Name MEGF8-related Carpenter syndrome
Synonyms CRPT2; CARPENTER syndrome 2; Carpenter syndrome 2; Carpenter syndrome type 2; MEGF8 Carpenter syndrome; Carpenter syndrome caused by mutation in MEGF8
Definition Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene.
Disease Hierarchy
DISU690E: Carpenter syndrome
DIS3D9MI: MEGF8-related Carpenter syndrome
Disease Identifiers
MONDO ID
MONDO_0013998
UMLS CUI
C3554247
OMIM ID
614976
MedGen ID
767161

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
MEGF8 OT5G38CH Strong Autosomal recessive [1]
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References

1 Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy. Proc Natl Acad Sci U S A. 2009 Mar 3;106(9):3219-24. doi: 10.1073/pnas.0813400106. Epub 2009 Feb 13.