MCID: NRN016
MIFTS: 42

Neuronal Migration Disorders

Categories: Neuronal diseases

Aliases & Classifications for Neuronal Migration Disorders

MalaCards integrated aliases for Neuronal Migration Disorders:

Name: Neuronal Migration Disorders 50
Malformations of Cortical Development, Group Ii 69
Abnormality of Neuronal Migration 28
Neuronal Migration Disorder 36

Classifications:



External Ids:

KEGG 36 H01835
UMLS 69 C1837249

Summaries for Neuronal Migration Disorders

NINDS : 50 Neuronal migration disorders (NMDs) are a group of birth defects caused by the abnormal migration of neurons in the developing brain and nervous system. In the developing brain, neurons must migrate from the areas where they are born to the areas where they will settle into their proper neural circuits. Neuronal migration, which occurs as early as the second month of gestation, is controlled by a complex assortment of chemical guides and signals. When these signals are absent or incorrect, neurons do not end up where they belong. This can result in structurally abnormal or missing areas of the brain in the cerebral hemispheres, cerebellum, brainstem, or hippocampus. The structural abnormalities found in NMDs include schizencephaly, porencephaly, lissencephaly, agyria, macrogyria, polymicrogyria, pachygyria, microgyria, micropolygyria, neuronal heterotopias (including band heterotopia), agenesis of the corpus callosum, and agenesis of the cranial nerves. Symptoms vary according to the abnormality, but often feature poor muscle tone and motor function, seizures, developmental delays, impaired cognitive development, failure to grow and thrive, difficulties with feeding, swelling in the extremities, and a smaller than normal head. Most infants with an NMD appear normal, but some disorders have characteristic facial or skull features that can be recognized by a neurologist. Several genetic abnormalities in children with NMDs have been identified. Defects in genes that are involved in neuronal migration have been associated with NMDs, but the role they play in the development of these disorders is not yet well-understood. More than 25 syndromes resulting from abnormal neuronal migration have been described. Among them are syndromes with several different patterns of inheritance; genetic counseling thus differs greatly between syndromes.

MalaCards based summary : Neuronal Migration Disorders, also known as malformations of cortical development, group ii, is related to lissencephaly 1 and pachygyria. An important gene associated with Neuronal Migration Disorders is DYNC1H1 (Dynein Cytoplasmic 1 Heavy Chain 1), and among its related pathways/superpathways are Neuroscience and Cytoskeletal Signaling. The drugs Dopamine and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and cortex, and related phenotypes are behavior/neurological and cellular

Wikipedia : 72 Neuronal migration disorder (NMD) refers to a heterogenous group of disorders that, it is supposed,... more...

Related Diseases for Neuronal Migration Disorders

Diseases related to Neuronal Migration Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 1 31.9 DCX PAFAH1B1 RELN
2 pachygyria 30.3 DCX PAFAH1B1 RELN
3 subcortical band heterotopia 30.1 DCX PAFAH1B1
4 dysembryoplastic neuroepithelial tumor 30.1 MAP2 NES
5 band heterotopia 30.1 DCX PAFAH1B1
6 temporal lobe epilepsy 29.0 CALB1 PVALB RELN
7 lissencephaly 28.9 ARX DCX PAFAH1B1 RELN VLDLR YWHAE
8 periventricular nodular heterotopia 28.2 ADGRG1 ARFGEF2 DCX EMX2 FLNA PAFAH1B1
9 flna-related periventricular nodular heterotopia 10.9
10 colpocephaly 10.9
11 pachygyria with mental retardation, seizures, and arachnoid cysts 10.9
12 neuronitis 10.6
13 papillary tumor of the pineal region 10.5 MAP2 VIM
14 ependymoblastoma 10.4 NES VIM
15 astroblastoma 10.4 NES VIM
16 mucopolysaccharidosis, type iiia 10.4 MAP2 NES
17 medulloepithelioma 10.3 NES VIM
18 lissencephaly, x-linked, 1 10.3 ARX DCX PAFAH1B1
19 chromosomal duplication syndrome 10.3 PAFAH1B1 YWHAE
20 optic nerve glioma 10.3 MAP2 NES VIM
21 odontoma 10.3 NES VIM
22 kidney clear cell sarcoma 10.3 NES YWHAE
23 physical disorder 10.3 DCX FLNA PAFAH1B1
24 chromosome 17p13.3, centromeric, duplication syndrome 10.2 DCX PAFAH1B1 YWHAE
25 epilepsy 10.2
26 cerebellar hypoplasia 10.2 DCX PAFAH1B1 RELN VLDLR
27 parasitic ectoparasitic infectious disease 10.0 FLNA MAP1B
28 chondroid chordoma 10.0 MAP2 VIM
29 lissencephaly with cerebellar hypoplasia 10.0 ARX DCX PAFAH1B1 RELN VLDLR
30 congenital nervous system abnormality 10.0 ARFGEF2 DCX FLNA PAFAH1B1 RELN
31 cerebritis 9.9
32 breast fibrosarcoma 9.8 CALB1 PVALB
33 muscular dystrophy 9.8
34 zellweger syndrome 9.8
35 schizophrenia 9.7
36 major depressive disorder 9.7
37 bipolar disorder 9.7
38 cerebral palsy 9.7
39 holoprosencephaly 9.7
40 blood group, i system 9.7
41 polymicrogyria 9.7
42 external auditory canal, bilateral atresia of, with congenital vertical talus 9.7
43 dwarfism 9.7
44 microcephalic osteodysplastic primordial dwarfism, type i 9.7
45 walker-warburg syndrome 9.7
46 knobloch syndrome 9.7
47 muscular dystrophy-dystroglycanopathy , type a, 1 9.7
48 pseudobulbar palsy 9.7
49 morning glory syndrome 9.7
50 knobloch syndrome 1 9.7

Graphical network of the top 20 diseases related to Neuronal Migration Disorders:



Diseases related to Neuronal Migration Disorders

Symptoms & Phenotypes for Neuronal Migration Disorders

MGI Mouse Phenotypes related to Neuronal Migration Disorders:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 DYNC1H1 EMX2 FLNA MAP1B MAP2 PAFAH1B1
2 cellular MP:0005384 10.1 ADGRG1 ARFGEF2 ARX EMX2 FLNA MAP1B
3 growth/size/body region MP:0005378 10 RELN VLDLR ARFGEF2 ARX DCX DYNC1H1
4 mortality/aging MP:0010768 10 MAP2 PAFAH1B1 PVALB RELN VIM VLDLR
5 nervous system MP:0003631 9.86 ADGRG1 ARFGEF2 ARX CALB1 DCX DYNC1H1
6 reproductive system MP:0005389 9.36 ARX DCX DYNC1H1 EMX2 FLNA MAP1B

Drugs & Therapeutics for Neuronal Migration Disorders

Drugs for Neuronal Migration Disorders (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Levodopa Approved Phase 4 59-92-7 6047
3 Neurotransmitter Agents Phase 4
4 Dihydroxyphenylalanine Phase 4
5 Dopamine Agents Phase 4
6 Peripheral Nervous System Agents Phase 4
7 Protective Agents Phase 4
8 Autonomic Agents Phase 4
9 Carbidopa, levodopa drug combination Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
2 Human Epilepsy Genetics--Neuronal Migration Disorders Study Recruiting NCT00041600

Search NIH Clinical Center for Neuronal Migration Disorders

Genetic Tests for Neuronal Migration Disorders

Genetic tests related to Neuronal Migration Disorders:

# Genetic test Affiliating Genes
1 Abnormality of Neuronal Migration 28

Anatomical Context for Neuronal Migration Disorders

MalaCards organs/tissues related to Neuronal Migration Disorders:

38
Brain, Cerebellum, Cortex, Temporal Lobe, Skin

Publications for Neuronal Migration Disorders

Articles related to Neuronal Migration Disorders:

(show top 50) (show all 83)
# Title Authors Year
1
Neuronal Migration Disorders. ( 29298944 )
2018
2
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders. ( 28953922 )
2017
3
Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. ( 26052266 )
2015
4
Neuronal migration disorders: Focus on the cytoskeleton and epilepsy. ( 26299390 )
2015
5
The Relevance of Human Fetal Subplate Zone for Developmental Neuropathology of Neuronal Migration Disorders and Cortical Dysplasia. ( 25312583 )
2014
6
Rufinamide for the treatment of refractory epilepsy secondary to neuronal migration disorders. ( 24548548 )
2014
7
Embryonic disruption of the candidate dyslexia susceptibility gene homolog Kiaa0319-like results in neuronal migration disorders. ( 23831424 )
2013
8
Cytoskeleton in action: lissencephaly, a neuronal migration disorder. ( 23495356 )
2013
9
Molecular genetics of neuronal migration disorders. ( 21222180 )
2011
10
Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. ( 20857301 )
2011
11
The beta-tubulin gene TUBB2B is involved in a large spectrum of neuronal migration disorders. ( 20101787 )
2010
12
Neuronal migration disorders. ( 19245832 )
2010
13
New trends in neuronal migration disorders. ( 19264520 )
2010
14
Neuronal migration disorders: clinical, neuroradiologic and genetics aspects. ( 19120042 )
2009
15
Experimental neuronal migration disorders following the administration of ibotenate in hamsters: the role of the subventricular zone in the development of cortical dysplasia. ( 19258286 )
2009
16
Dcx reexpression reduces subcortical band heterotopia and seizure threshold in an animal model of neuronal migration disorder. ( 19098909 )
2009
17
Movement disorder and neuronal migration disorder due to ARFGEF2 mutation. ( 19384555 )
2009
18
Neuronal migration disorders, agenesis of corpus callosum, preauricular skin tag and bilateral morning glory syndrome in a term newborn infant. ( 18388784 )
2008
19
Sudden death in a patient with mosaic ring X Turner syndrome and a neuronal migration disorder. ( 18049086 )
2008
20
N-cofilin is associated with neuronal migration disorders and cell cycle control in the cerebral cortex. ( 17875668 )
2007
21
Grey matter heterotopia: what EEG-fMRI can tell us about epileptogenicity of neuronal migration disorders. ( 16339793 )
2006
22
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. ( 16434687 )
2006
23
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. ( 15753412 )
2005
24
Neuronal migration disorders, genetics, and epileptogenesis. ( 15921228 )
2005
25
Neurophysiologic findings of neuronal migration disorders: intrinsic epileptogenicity of focal cortical dysplasia on electroencephalography, electrocorticography, and magnetoencephalography. ( 15921239 )
2005
26
Neuronal migration disorders. ( 16417844 )
2005
27
Proceedings of the International Symposium on Neuronal Migration Disorders and Childhood Epilepsies: clinical manifestations, pathomechanisms, and etiopathogenesis. April 16-17, 2004. Tokyo, Japan. ( 16044620 )
2005
28
Are altered excitatory synapses found in neuronal migration disorders? ( 16175215 )
2005
29
Upregulation of glutamate receptors in rat cerebral cortex with neuronal migration disorders. ( 15201510 )
2004
30
High molecular weight microtubule-associated protein 2 over-expression in neuronal migration disorders caused by N-methyl-D-aspartate receptor activation in hamsters. ( 15008898 )
2004
31
Radial and tangential neuronal migration disorder in ibotenate-induced cortical lesions in hamsters: immunohistochemical study of reelin, vimentin, and calretinin. ( 15072103 )
2004
32
MRI and EEG findings in surgically treated patients with partial seizures due to neuronal migration disorders, their relations to each other and to surgery outcome. ( 14616299 )
2003
33
Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. ( 12707952 )
2003
34
Various findings in surgically treated epilepsy patients with dysembryoplastic neuroepithelial tumors in comparison with those of patients with other low-grade brain tumors and other neuronal migration disorders. ( 12423388 )
2002
35
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. ( 12369018 )
2002
36
Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation t(18p;21q) by fluorescence in situ hybridisation. ( 12150215 )
2002
37
Pathogenic significance of neuronal migration disorders in temporal lobe epilepsy. ( 11431720 )
2001
38
Lactate and other metabolic changes in neuronal migration disorders. ( 11240607 )
2001
39
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. ( 11709191 )
2001
40
[Development and developmental disorders of the human brain. III. Neuronal migration disorders of the cerebrum]. ( 11268908 )
2001
41
Neuronal migration disorders. ( 11553932 )
2001
42
Molecular mechanisms of neuronal migration disorders, quo vadis? ( 11899256 )
2001
43
Characterization of neuronal migration disorders in neocortical structures: loss or preservation of inhibitory interneurons? ( 10897147 )
2000
44
Immunohistochemical expression of doublecortin in the human cerebrum: comparison of normal development and neuronal migration disorders. ( 10773210 )
2000
45
Neuronal migration disorders: from genetic diseases to developmental mechanisms. ( 10906798 )
2000
46
A novel migration-related gene product, doublecortin, in neuronal migration disorder of fetuses and infants with Zellweger syndrome. ( 10963364 )
2000
47
Single cause, polymorphic neuronal migration disorders: an animal model. ( 11085292 )
2000
48
Neuronal migration disorders in man. ( 11151046 )
2000
49
Metabolic changes in neuronal migration disorders: evaluation by combined MRI and proton MR spectroscopy. ( 10403210 )
1999
50
Neuronal migration disorders in humans and in mouse models--an overview. ( 10515161 )
1999

Variations for Neuronal Migration Disorders

ClinVar genetic disease variations for Neuronal Migration Disorders:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBA1A NM_006009.3(TUBA1A): c.1148C> T (p.Ala383Val) single nucleotide variant Pathogenic/Likely pathogenic rs587784482 GRCh38 Chromosome 12, 49185218: 49185218
2 DYNC1H1 NM_001376.4(DYNC1H1): c.1738G> A (p.Glu580Lys) single nucleotide variant Pathogenic rs863223361 GRCh38 Chromosome 14, 101985963: 101985963

Expression for Neuronal Migration Disorders

Search GEO for disease gene expression data for Neuronal Migration Disorders.

Pathways for Neuronal Migration Disorders

Pathways related to Neuronal Migration Disorders according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.16 CALB1 DCX MAP2 PAFAH1B1
2 12.05 DCX FLNA PAFAH1B1 VIM
3 11.23 MAP2 NES VIM
4 10.72 MAP1B PAFAH1B1 RELN VLDLR
5 10.66 DCX DYNC1H1 MAP1B PAFAH1B1 RELN VLDLR

GO Terms for Neuronal Migration Disorders

Cellular components related to Neuronal Migration Disorders according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.83 ARFGEF2 CALB1 MAP1B MAP2 RELN
2 extracellular matrix GO:0031012 9.8 DYNC1H1 FLNA NES VIM
3 microtubule GO:0005874 9.8 DCX DYNC1H1 MAP1B MAP2 PAFAH1B1
4 cytoskeleton GO:0005856 9.76 ARFGEF2 DCX DYNC1H1 FLNA MAP1B MAP2
5 neuron projection GO:0043005 9.72 CALB1 DCX MAP2 PAFAH1B1 VIM
6 dendritic spine GO:0043197 9.65 ARFGEF2 CALB1 MAP1B
7 axon GO:0030424 9.65 CALB1 MAP1B PAFAH1B1 PVALB YWHAE
8 apical dendrite GO:0097440 9.46 FLNA MAP1B
9 neuronal cell body GO:0043025 9.43 CALB1 FLNA MAP1B MAP2 PAFAH1B1 PVALB
10 central region of growth cone GO:0090724 9.37 PAFAH1B1 YWHAE
11 microtubule associated complex GO:0005875 8.92 DCX MAP1B MAP2 PAFAH1B1
12 cytoplasm GO:0005737 10.32 ARFGEF2 CALB1 DCX DYNC1H1 FLNA MAP1B

Biological processes related to Neuronal Migration Disorders according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.86 ADGRG1 ARX DCX KIAA0319 MAP1B NES
2 G2/M transition of mitotic cell cycle GO:0000086 9.8 DYNC1H1 NES PAFAH1B1 YWHAE
3 brain development GO:0007420 9.8 ADGRG1 DCX EMX2 NES PAFAH1B1 RELN
4 central nervous system development GO:0007417 9.78 DCX NES RELN
5 ciliary basal body-plasma membrane docking GO:0097711 9.77 DYNC1H1 PAFAH1B1 YWHAE
6 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.75 DYNC1H1 PAFAH1B1 YWHAE
7 forebrain development GO:0030900 9.74 ARX EMX2 RELN
8 dendrite morphogenesis GO:0048813 9.69 DCX MAP2 VLDLR
9 hippocampus development GO:0021766 9.67 DCX PAFAH1B1 RELN YWHAE
10 regulation of cytosolic calcium ion concentration GO:0051480 9.65 CALB1 PVALB YWHAE
11 dendrite development GO:0016358 9.63 MAP1B MAP2 RELN
12 positive regulation of dendritic spine morphogenesis GO:0061003 9.6 PAFAH1B1 RELN
13 cell proliferation in forebrain GO:0021846 9.58 ARX EMX2
14 positive regulation of neural precursor cell proliferation GO:2000179 9.58 ADGRG1 FLNA NES
15 cerebral cortex regionalization GO:0021796 9.56 ADGRG1 EMX2
16 ventral spinal cord development GO:0021517 9.55 RELN VLDLR
17 cerebral cortex development GO:0021987 9.55 EMX2 FLNA PAFAH1B1 RELN YWHAE
18 reelin-mediated signaling pathway GO:0038026 9.54 RELN VLDLR
19 cerebral cortex tangential migration GO:0021800 9.52 ARX RELN
20 layer formation in cerebral cortex GO:0021819 9.26 ADGRG1 DCX PAFAH1B1 RELN
21 neuron migration GO:0001764 9.1 ARX DCX KIAA0319 PAFAH1B1 RELN YWHAE
22 multicellular organism development GO:0007275 10.03 ADGRG1 ARX DCX EMX2 KIAA0319 NES

Molecular functions related to Neuronal Migration Disorders according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.26 MAP1B MAP2 NES VIM
2 microtubule binding GO:0008017 8.92 DCX MAP1B MAP2 PAFAH1B1

Sources for Neuronal Migration Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....