Details of Disease

General Information of Disease (ID: DISQF9HP)

Disease Name Band heterotopia of brain
Synonyms band heterotopia; BH; band heterotopia of brain
Definition Editor check: TODO
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISHN7JS: Subcortical band heterotopia
DISQF9HP: Band heterotopia of brain
Disease Identifiers
MONDO ID
MONDO_0010873
MESH ID
C563950
UMLS CUI
C4284594
OMIM ID
600348
MedGen ID
924885

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DCX OTISR7K3 Strong Biomarker [1]
DEPDC5 OTE70JLY Strong Biomarker [2]
EML1 OTOP2E01 Strong Autosomal recessive [3]
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References

1 Abnormal network activity in a targeted genetic model of human double cortex.J Neurosci. 2009 Jan 14;29(2):313-27. doi: 10.1523/JNEUROSCI.4093-08.2009.
2 Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.Ann Neurol. 2014 May;75(5):782-7. doi: 10.1002/ana.24126. Epub 2014 Apr 14.
3 EML1-associated brain overgrowth syndrome with ribbon-like heterotopia. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):627-637. doi: 10.1002/ajmg.c.31751. Epub 2019 Nov 11.