Details of Disease

General Information of Disease (ID: DISMNQ3E)

Disease Name Fetal akinesia deformation sequence 2
Synonyms FADS2
Definition Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene.
Disease Hierarchy
DISAOT9S: Fetal akinesia deformation sequence
DISMNQ3E: Fetal akinesia deformation sequence 2
Disease Identifiers
MONDO ID
MONDO_0100102
UMLS CUI
C4760576
OMIM ID
618388
MedGen ID
1678048

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
RAPSN OTGMSWDQ Strong Autosomal recessive [1]
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References

1 Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. Am J Hum Genet. 2008 Jan;82(1):222-7. doi: 10.1016/j.ajhg.2007.09.016.