Details of Disease

General Information of Disease (ID: DIS28C6I)

Disease Name Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
Disease Hierarchy
DISYKSRF: Genetic disease
DIS28C6I: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
Disease Identifiers
MONDO ID
MONDO_0859204
UMLS CUI
C5562015
OMIM ID
619602
MedGen ID
1794225

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ATP1A2 TT5B6HJ Strong Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATP1A2 OTCF8OWW Strong Autosomal recessive [1]
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References

1 Degeneration of the amygdala/piriform cortex and enhanced fear/anxiety behaviors in sodium pump alpha2 subunit (Atp1a2)-deficient mice. J Neurosci. 2003 Jun 1;23(11):4667-76. doi: 10.1523/JNEUROSCI.23-11-04667.2003.