Details of Disease

General Information of Disease (ID: DISE02PO)

Disease Name Hydranencephaly
Synonyms Hydroanencephaly; hydranencephaly; hydranencephaly (disease)
Definition
A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor.
Disease Hierarchy
DISIYW6T: Anencephaly
DIS0P42Q: Encephaloclastic disorder
DISE02PO: Hydranencephaly
Disease Identifiers
MONDO ID
MONDO_0016344
MESH ID
D006832
UMLS CUI
C0020225
MedGen ID
6937
HPO ID
HP:0002324
Orphanet ID
2177
SNOMED CT ID
30023002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NDE1 OT2N8Q17 Supportive Autosomal recessive [1]
ARX OTBGYH25 Strong Genetic Variation [2]
CEP55 OTGSG2PA Strong Biomarker [3]
FLVCR2 OTAM94ID Strong Genetic Variation [4]
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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.
2 Frameshift mutations of the ARX gene in familial Ohtahara syndrome.Epilepsia. 2010 Sep;51(9):1679-84. doi: 10.1111/j.1528-1167.2010.02559.x.
3 An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.Eur J Hum Genet. 2019 Apr;27(4):657-662. doi: 10.1038/s41431-018-0306-0. Epub 2019 Jan 8.
4 Hydranencephaly in a newborn with a FLVCR2 mutation and prenatal exposure to cocaine.Birth Defects Res A Clin Mol Teratol. 2015 Jan;103(1):45-50. doi: 10.1002/bdra.23288. Epub 2014 Jul 30.