Details of Disease

General Information of Disease (ID: DISZVYEC)

Disease Name Schizencephaly
Synonyms schizencephaly
Definition
Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.
Disease Hierarchy
DIS2BIP8: Congenital nervous system disorder
DIS0P42Q: Encephaloclastic disorder
DISZVYEC: Schizencephaly
Disease Identifiers
MONDO ID
MONDO_0010011
MESH ID
D065707
UMLS CUI
C0266484
OMIM ID
269160
MedGen ID
78606
HPO ID
HP:0010636
Orphanet ID
799
SNOMED CT ID
253159001

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
SHH TTIENCJ Strong Genetic Variation [1]
------------------------------------------------------------------------------------
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EMX2 OT0V8OYK Moderate Autosomal dominant [2]
COL4A1 OTL6D1YE Strong Genetic Variation [3]
SIX3 OTP5E3VU Strong Genetic Variation [1]
------------------------------------------------------------------------------------

References

1 Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.Hum Genet. 2010 Mar;127(5):555-61. doi: 10.1007/s00439-010-0797-4. Epub 2010 Feb 16.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
3 Cortical malformations and COL4A1 mutation: Three new cases.Eur J Paediatr Neurol. 2019 May;23(3):410-417. doi: 10.1016/j.ejpn.2019.02.006. Epub 2019 Feb 22.