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Diseases

Malformations of Cortical Development

malformations of cortical development

Entity Type
Diseases
Relation Groups
1
Relation Preview
8

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Malformations of Cortical Development
Standard Disease Name
malformations of cortical development
MeSH Tree
No data
ICD-10
No data

Identifiers

DO ID
No data
MeSH ID
D054220
OMIM ID
MTHU043840
UMLS ID
C1955869
HPO ID
No data

Description and Extensions

Description
NCI2016_02D:A group of neural cortical developmental malformations of diverse genetic causes. Clinical manifestations include epilepsy and developmental delays.|MSH2017_2016_08_12:Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay.
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease8 Targets
04
GRIN1
glutamate ionotropic receptor NMDA type subunit 1
glutamate ionotropic receptor NMDA type subunit 1
06
SCN1A
sodium voltage-gated channel alpha subunit 1
sodium voltage-gated channel alpha subunit 1