Details of Disease | DrugMAP

General Information of Disease (ID: DISDVU5W)

Disease Name	NDE1-related microhydranencephaly
Synonyms	microhydranencephaly; hydranencephaly and microcephaly; MHAC
Definition	NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.
Disease Hierarchy	DISMN6PG: Sporadic fetal brain disruption sequence DIS12Z5V: Microcephaly with lissencephaly and/or hydranencephaly DISDVU5W: NDE1-related microhydranencephaly
Disease Identifiers	MONDO ID MONDO_0011504 MESH ID C537555 UMLS CUI C1857977 OMIM ID 605013 MedGen ID 341899 Orphanet ID 443162 SNOMED CT ID 1237462006

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
NDE1	OT2N8Q17	Supportive	Autosomal recessive	[1]
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References

1	Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. Neurogenetics. 2012 Aug;13(3):189-94. doi: 10.1007/s10048-012-0326-9. Epub 2012 Apr 15.