Details of Disease | DrugMAP

General Information of Disease (ID: DISHN7JS)

Disease Name	Subcortical band heterotopia
Synonyms	Double cortex; familial band heterotopia; double cortex syndrome; HeCo; band heterotopia; subcortical laminar heterotopia; heterotopic cortex
Definition	A developmental brain abnormality characterized by atypical migration of neurons during cortical development.\|Editor note: check this hierarchy
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS2BIP8: Congenital nervous system disorder DISHN7JS: Subcortical band heterotopia
Disease Identifiers	MONDO ID MONDO_0020491 MESH ID D054221 UMLS CUI C1848201 MedGen ID 336288 HPO ID HP:0032409 Orphanet ID 99796

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DCX	OTISR7K3	Supportive	Autosomal recessive	[1]
EML1	OTOP2E01	Supportive	Autosomal recessive	[2]
ARX	OTBGYH25	moderate	Biomarker	[3]
CRISPLD2	OTVSFHTL	moderate	Biomarker	[4]
LLGL1	OTAIQSXZ	moderate	Biomarker	[4]
RAPGEF2	OTZWX2AA	moderate	Biomarker	[5]
CCDC85C	OT1AOJCS	Strong	Biomarker	[6]
DBNL	OTT2OQOV	Strong	Biomarker	[7]
MNT	OTPC4ANL	Strong	Biomarker	[8]
OCRL	OTQ3L42N	Strong	Genetic Variation	[9]
PAFAH1B1	OT9T2TCJ	Strong	Biomarker	[10]
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⏷ Show the Full List of 11 DOT(s)

References

1	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
2	Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human. Nat Neurosci. 2014 Jul;17(7):923-33. doi: 10.1038/nn.3729. Epub 2014 May 25.
3	Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.Pediatr Neurol. 2013 May;48(5):411-4. doi: 10.1016/j.pediatrneurol.2012.12.033.
4	Loss of Lgl1 Disrupts the Radial Glial Fiber-guided Cortical Neuronal Migration and Causes Subcortical Band Heterotopia in Mice.Neuroscience. 2019 Feb 21;400:132-145. doi: 10.1016/j.neuroscience.2018.12.039. Epub 2018 Dec 28.
5	Comprehensive behavioral analysis of mice deficient in Rapgef2 and Rapgef6, a subfamily of guanine nucleotide exchange factors for Rap small GTPases possessing the Ras/Rap-associating domain.Mol Brain. 2018 May 10;11(1):27. doi: 10.1186/s13041-018-0370-y.
6	Expression of Ccdc85C, a causative protein for murine hydrocephalus, in the mammary gland tumors of dogs.Histol Histopathol. 2017 Apr;32(4):397-403. doi: 10.14670/HH-11-806. Epub 2016 Jul 26.
7	Drebrin-like (Dbnl) Controls Neuronal Migration via Regulating N-Cadherin Expression in the Developing Cerebral Cortex.J Neurosci. 2019 Jan 23;39(4):678-691. doi: 10.1523/JNEUROSCI.1634-18.2018. Epub 2018 Nov 30.
8	Loss of the Max-interacting protein Mnt in mice results in decreased viability, defective embryonic growth and craniofacial defects: relevance to Miller-Dieker syndrome.Hum Mol Genet. 2004 May 15;13(10):1057-67. doi: 10.1093/hmg/ddh116. Epub 2004 Mar 17.
9	Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions.Pediatr Neurol. 2009 May;40(5):383-6. doi: 10.1016/j.pediatrneurol.2008.11.006.
10	Lissencephaly: Expanded imaging and clinical classification.Am J Med Genet A. 2017 Jun;173(6):1473-1488. doi: 10.1002/ajmg.a.38245. Epub 2017 Apr 25.