Details of Disease

General Information of Disease (ID: DISJQL5R)

Disease Name Anencephaly 1
Synonyms absence of a large part of the brain and the skull; ANPH; anencephaly; anencephaly 1; isolated anencephaly/exencephaly
Definition
Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.
Disease Hierarchy
DISIYW6T: Anencephaly
DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
DISJQL5R: Anencephaly 1
Disease Identifiers
MONDO ID
MONDO_0008791
UMLS CUI
C5561928
OMIM ID
206500
MedGen ID
1794138
Orphanet ID
1048

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
TRIM36 OT37JQ8Y Limited Unknown [1]
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References

1 A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family. Hum Mol Genet. 2017 Mar 15;26(6):1104-1114. doi: 10.1093/hmg/ddx020.