MCID: NRN016
MIFTS: 42

Neuronal Migration Disorders malady

Categories: Neuronal diseases

Aliases & Classifications for Neuronal Migration Disorders

Aliases & Descriptions for Neuronal Migration Disorders:

Name: Neuronal Migration Disorders 51 29
Malformations of Cortical Development, Group Ii 69

Classifications:



Summaries for Neuronal Migration Disorders

NINDS : 51 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 colpocephaly and lissencephaly 1. An important gene associated with Neuronal Migration Disorders is DCX (Doublecortin), 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 : 71 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 58)
id Related Disease Score Top Affiliating Genes
1 colpocephaly 10.8
2 lissencephaly 1 10.8
3 pachygyria with mental retardation, seizures, and arachnoid cysts 10.8
4 flna-related periventricular nodular heterotopia 10.8
5 neuronitis 10.6
6 deafness and hereditary hearing loss 10.3 DCX PAFAH1B1
7 noonan syndrome 10 10.3 DCX PAFAH1B1
8 meier-gorlin syndrome 6 10.3 DCX PAFAH1B1
9 kcne2-related familial atrial fibrillation 10.3 DCX PAFAH1B1 RELN
10 autosomal recessive stickler syndrome 10.3 MAP2 VIM
11 mental retardation, x-linked, syndromic 15 10.2 ARX DCX PAFAH1B1
12 epithelial and subepithelial dystrophy 10.2 PAFAH1B1 YWHAE
13 acoustic neuroma 10.2 ARFGEF2 EMX2
14 superficial spreading melanoma 10.2 DCX PAFAH1B1
15 calcific tendinitis 10.2 MAP2 NES VIM
16 right ventricular hypoplasia, isolated 10.2 DCX PAFAH1B1 YWHAE
17 central nervous system hemangioma 10.2 MAP2 NES VIM
18 adenofibroma 10.2 MAP2 NES
19 epilepsy 10.1
20 rete ovarii neoplasm 10.1 NES YWHAE
21 nephrogenic adenoma of urinary bladder 10.1 NES VIM
22 lung agenesis 10.1 DCX PAFAH1B1 RELN VLDLR
23 palmoplantar keratoderma-sclerodactyly syndrome 10.1 DCX PAFAH1B1 RELN TUBA1A
24 vulvar benign neoplasm 10.1 MAP2 NES
25 amyotrophic lateral sclerosis 18 10.0 PAFAH1B1 TUBA1A YWHAE
26 fibrous dysplasia 9.9 DCX FLNA PAFAH1B1 TUBA1A
27 cancerophobia 9.9 CALB1 PVALB
28 cerebritis 9.8
29 thalassemia 9.8 CALB1 PVALB RELN
30 aids - neurological complications 9.8 ARX DCX PAFAH1B1 RELN TUBA1A VLDLR
31 ck syndrome 9.8 FLNA PAFAH1B1 PVALB YWHAE
32 pulmonary hypertension 9.8 ARFGEF2 ARX FLNA PVALB
33 pachygyria 9.8
34 zellweger syndrome 9.8
35 muscular dystrophy 9.8
36 angiodysplasia 9.7 ARFGEF2 ARX DCX FLNA PAFAH1B1 RELN
37 loeys-dietz syndrome 9.6 ARX DCX PAFAH1B1 RELN TUBA1A VLDLR
38 holoprosencephaly 9.6
39 polymicrogyria 9.6
40 temporal lobe epilepsy 9.6
41 lissencephaly 9.6
42 dwarfism 9.6
43 walker-warburg syndrome 9.6
44 knobloch syndrome 9.6
45 pseudobulbar palsy 9.6
46 subcortical band heterotopia 9.6
47 dysembryoplastic neuroepithelial tumor 9.6
48 monosomy 21 9.6
49 alobar holoprosencephaly 9.6
50 turner syndrome 9.6

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 MAP1B ARX MAP2 CALB1 PAFAH1B1 DCX
2 cellular MP:0005384 10.13 ARFGEF2 MAP1B ARX PAFAH1B1 EMX2 PVALB
3 growth/size/body region MP:0005378 10 FLNA ARFGEF2 MAP1B ARX MAP2 DCX
4 mortality/aging MP:0010768 9.97 ARFGEF2 MAP1B ARX MAP2 DCX PAFAH1B1
5 nervous system MP:0003631 9.86 ARFGEF2 MAP1B ARX MAP2 CALB1 PAFAH1B1
6 reproductive system MP:0005389 9.32 MAP1B ARX MAP2 DCX PAFAH1B1 EMX2

Drugs & Therapeutics for Neuronal Migration Disorders

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

(show all 16)
id 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 Peripheral Nervous System Agents Phase 4
6 Dopamine Agents Phase 4
7 Protective Agents Phase 4
8 Autonomic Agents Phase 4
9 Carbidopa, levodopa drug combination Phase 4
10 Olive Nutraceutical Phase 4
11 Omega 3 Fatty Acid Nutraceutical Phase 4
12
protease inhibitors
13 Serine Proteinase Inhibitors
14 Neuroserpin
15 HIV Protease Inhibitors
16 serine Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4
2 Omega-3 Fatty Acids Efficacy in First-episode of Schizophrenia Unknown status NCT02210962 Phase 4
3 Mesenchymal Stem Cells for the Treatment of MS Unknown status NCT00781872 Phase 1, Phase 2
4 Human Epilepsy Genetics--Neuronal Migration Disorders Study Recruiting NCT00041600
5 Investigation of Neuroserpin as an Autism Candidate Gene Terminated NCT00917683

Search NIH Clinical Center for Neuronal Migration Disorders

Genetic Tests for Neuronal Migration Disorders

Genetic tests related to Neuronal Migration Disorders:

id Genetic test Affiliating Genes
1 Abnormality of Neuronal Migration 29

Anatomical Context for Neuronal Migration Disorders

MalaCards organs/tissues related to Neuronal Migration Disorders:

39
Brain, Cerebellum, Cortex, Temporal Lobe, Skin

Publications for Neuronal Migration Disorders

Articles related to Neuronal Migration Disorders:

(show top 50) (show all 81)
id Title Authors Year
1
Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. ( 26052266 )
2015
2
Neuronal migration disorders: Focus on the cytoskeleton and epilepsy. ( 26299390 )
2015
3
Rufinamide for the treatment of refractory epilepsy secondary to neuronal migration disorders. ( 24548548 )
2014
4
The Relevance of Human Fetal Subplate Zone for Developmental Neuropathology of Neuronal Migration Disorders and Cortical Dysplasia. ( 25312583 )
2014
5
Cytoskeleton in action: lissencephaly, a neuronal migration disorder. ( 23495356 )
2013
6
Embryonic disruption of the candidate dyslexia susceptibility gene homolog Kiaa0319-like results in neuronal migration disorders. ( 23831424 )
2013
7
Molecular genetics of neuronal migration disorders. ( 21222180 )
2011
8
Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. ( 20857301 )
2011
9
New trends in neuronal migration disorders. ( 19264520 )
2010
10
Neuronal migration disorders. ( 19245832 )
2010
11
The beta-tubulin gene TUBB2B is involved in a large spectrum of neuronal migration disorders. ( 20101787 )
2010
12
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
13
Dcx reexpression reduces subcortical band heterotopia and seizure threshold in an animal model of neuronal migration disorder. ( 19098909 )
2009
14
Neuronal migration disorders: clinical, neuroradiologic and genetics aspects. ( 19120042 )
2009
15
Movement disorder and neuronal migration disorder due to ARFGEF2 mutation. ( 19384555 )
2009
16
Neuronal migration disorders, agenesis of corpus callosum, preauricular skin tag and bilateral morning glory syndrome in a term newborn infant. ( 18388784 )
2008
17
Sudden death in a patient with mosaic ring X Turner syndrome and a neuronal migration disorder. ( 18049086 )
2008
18
N-cofilin is associated with neuronal migration disorders and cell cycle control in the cerebral cortex. ( 17875668 )
2007
19
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. ( 16434687 )
2006
20
Grey matter heterotopia: what EEG-fMRI can tell us about epileptogenicity of neuronal migration disorders. ( 16339793 )
2006
21
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. ( 15753412 )
2005
22
Neurophysiologic findings of neuronal migration disorders: intrinsic epileptogenicity of focal cortical dysplasia on electroencephalography, electrocorticography, and magnetoencephalography. ( 15921239 )
2005
23
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
24
Are altered excitatory synapses found in neuronal migration disorders? ( 16175215 )
2005
25
Neuronal migration disorders. ( 16417844 )
2005
26
Neuronal migration disorders, genetics, and epileptogenesis. ( 15921228 )
2005
27
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
28
Radial and tangential neuronal migration disorder in ibotenate-induced cortical lesions in hamsters: immunohistochemical study of reelin, vimentin, and calretinin. ( 15072103 )
2004
29
Upregulation of glutamate receptors in rat cerebral cortex with neuronal migration disorders. ( 15201510 )
2004
30
Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. ( 12707952 )
2003
31
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
32
Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation t(18p;21q) by fluorescence in situ hybridisation. ( 12150215 )
2002
33
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. ( 12369018 )
2002
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
Neuronal migration disorders. ( 11553932 )
2001
36
[Development and developmental disorders of the human brain. III. Neuronal migration disorders of the cerebrum]. ( 11268908 )
2001
37
Lactate and other metabolic changes in neuronal migration disorders. ( 11240607 )
2001
38
Molecular mechanisms of neuronal migration disorders, quo vadis? ( 11899256 )
2001
39
Pathogenic significance of neuronal migration disorders in temporal lobe epilepsy. ( 11431720 )
2001
40
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. ( 11709191 )
2001
41
Characterization of neuronal migration disorders in neocortical structures: loss or preservation of inhibitory interneurons? ( 10897147 )
2000
42
Neuronal migration disorders in man. ( 11151046 )
2000
43
Immunohistochemical expression of doublecortin in the human cerebrum: comparison of normal development and neuronal migration disorders. ( 10773210 )
2000
44
Single cause, polymorphic neuronal migration disorders: an animal model. ( 11085292 )
2000
45
A novel migration-related gene product, doublecortin, in neuronal migration disorder of fetuses and infants with Zellweger syndrome. ( 10963364 )
2000
46
Neuronal migration disorders: from genetic diseases to developmental mechanisms. ( 10906798 )
2000
47
The right neuron at the wrong place: biology of heterotopic neurons in cortical neuronal migration disorders, with special reference to associated pathologies. ( 10487203 )
1999
48
Electrophysiological responses in vivo of hippocampal CA1 pyramidal neurons in an animal model of neuronal migration disorders. ( 10575261 )
1999
49
Neuronal migration disorders in cerebral palsy. ( 19519643 )
1999
50
Metabolic changes in neuronal migration disorders: evaluation by combined MRI and proton MR spectroscopy. ( 10403210 )
1999

Variations for Neuronal Migration Disorders

ClinVar genetic disease variations for Neuronal Migration Disorders:

6
id 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

GO Terms for Neuronal Migration Disorders

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

id Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.78 ARFGEF2 CALB1 MAP2 RELN
2 neuronal cell body GO:0043025 9.77 CALB1 FLNA MAP2 PAFAH1B1 PVALB
3 axon GO:0030424 9.71 CALB1 PAFAH1B1 PVALB YWHAE
4 microtubule GO:0005874 9.65 DCX MAP1B MAP2 PAFAH1B1 TUBA1A
5 dendritic spine GO:0043197 9.61 ARFGEF2 CALB1 MAP1B
6 cytoskeleton GO:0005856 9.56 ARFGEF2 DCX FLNA MAP1B MAP2 PAFAH1B1
7 neuron projection GO:0043005 9.55 CALB1 DCX MAP2 PAFAH1B1 VIM
8 central region of growth cone GO:0090724 9.32 PAFAH1B1 YWHAE
9 microtubule associated complex GO:0005875 8.92 DCX MAP1B MAP2 PAFAH1B1
10 cytoplasm GO:0005737 10.27 ARFGEF2 CALB1 DCX FLNA MAP1B MAP2

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

(show all 21)
id 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 NES PAFAH1B1 TUBA1A YWHAE
3 brain development GO:0007420 9.8 ADGRG1 DCX EMX2 NES PAFAH1B1 RELN
4 central nervous system development GO:0007417 9.77 DCX NES RELN
5 ciliary basal body docking GO:0097711 9.75 PAFAH1B1 TUBA1A YWHAE
6 forebrain development GO:0030900 9.73 ARX EMX2 RELN
7 hippocampus development GO:0021766 9.67 DCX PAFAH1B1 RELN YWHAE
8 dendrite morphogenesis GO:0048813 9.65 DCX MAP2 VLDLR
9 regulation of cytosolic calcium ion concentration GO:0051480 9.63 CALB1 PVALB YWHAE
10 axon extension GO:0048675 9.6 DCX MAP1B
11 positive regulation of dendritic spine morphogenesis GO:0061003 9.58 PAFAH1B1 RELN
12 positive regulation of neural precursor cell proliferation GO:2000179 9.58 ADGRG1 FLNA NES
13 cell proliferation in forebrain GO:0021846 9.57 ARX EMX2
14 cerebral cortex regionalization GO:0021796 9.55 ADGRG1 EMX2
15 cerebral cortex development GO:0021987 9.55 EMX2 FLNA PAFAH1B1 RELN YWHAE
16 ventral spinal cord development GO:0021517 9.54 RELN VLDLR
17 reelin-mediated signaling pathway GO:0038026 9.52 RELN VLDLR
18 cerebral cortex tangential migration GO:0021800 9.51 ARX RELN
19 layer formation in cerebral cortex GO:0021819 9.26 ADGRG1 DCX PAFAH1B1 RELN
20 neuron migration GO:0001764 9.1 ARX DCX KIAA0319 PAFAH1B1 RELN YWHAE
21 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:

id Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.46 DCX MAP1B MAP2 PAFAH1B1
2 glycoprotein binding GO:0001948 9.13 FLNA VIM VLDLR
3 structural molecule activity GO:0005198 9.02 MAP1B MAP2 NES TUBA1A VIM

Sources for Neuronal Migration Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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