Details of Disease

General Information of Disease (ID: DISGIHHK)

Disease Name Fetal akinesia deformation sequence 4
Synonyms FADS4
Definition Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene.
Disease Hierarchy
DISAOT9S: Fetal akinesia deformation sequence
DISGIHHK: Fetal akinesia deformation sequence 4
Disease Identifiers
MONDO ID
MONDO_0100104
UMLS CUI
C4760578
OMIM ID
618393
MedGen ID
1675450

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
NUP88 OT647WOR Strong Autosomal recessive [1]
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References

1 Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence. PLoS Genet. 2018 Dec 13;14(12):e1007845. doi: 10.1371/journal.pgen.1007845. eCollection 2018 Dec.