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 51
Malformations of Cortical Development, Group Ii 69
Abnormality of Neuronal Migration 29

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 2q31.1 microdeletion syndrome and lissencephaly 1. 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 61)
id Related Disease Score Top Affiliating Genes
1 2q31.1 microdeletion syndrome 10.8 MAP2 VIM
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 colpocephaly 10.8
6 subpulmonary stenosis 10.6 DCX PAFAH1B1
7 aggressive systemic mastocytosis 10.6 NES VIM
8 adenofibroma 10.6 MAP2 NES
9 axonal neuropathy 10.6 NES VIM
10 itgb4-related epidermolysis bullosa with pyloric atresia 10.6 DCX PAFAH1B1 RELN
11 painful legs and moving toes syndrome 10.6 DCX PAFAH1B1 RELN
12 neuronitis 10.6
13 anemia, sideroblastic, 3, pyridoxine-refractory 10.5 DCX PAFAH1B1
14 microcephaly, amish type 10.5 MAP2 NES
15 space motion sickness 10.5 NES VIM
16 tn polyagglutination syndrome, somatic 10.5 ARX DCX PAFAH1B1
17 cervical adenomyoma 10.5 MAP2 NES VIM
18 moved to 155310 10.5 PAFAH1B1 RELN VLDLR
19 subaortic stenosis, membranous 10.4 PAFAH1B1 YWHAE
20 olivopontocerebellar atrophy deafness 10.4 NES VIM
21 shwachman-diamond type metaphyseal dysplasia 10.4 DCX FLNA PAFAH1B1
22 secondary syphilis 10.4 MAP2 VIM
23 middle ear adenocarcinoma 10.4 NES YWHAE
24 epilepsy 10.1
25 uterine corpus adenosarcoma 10.0 FLNA MAP1B
26 recombinant 8 syndrome 10.0 ARX DCX PAFAH1B1 RELN VLDLR
27 antley-bixler syndrome 10.0 ARX DCX PAFAH1B1 RELN VLDLR
28 cerebritis 9.8
29 zellweger syndrome 9.8
30 muscular dystrophy 9.8
31 pachygyria 9.8
32 adult central nervous system mature teratoma 9.7 CALB1 PVALB
33 angiodysplasia 9.7 ARFGEF2 ARX DCX FLNA PAFAH1B1 RELN
34 schizophrenia 9.6
35 bipolar disorder 9.6
36 microcephalic osteodysplastic primordial dwarfism, type i 9.6
37 band heterotopia 9.6
38 cerebral palsy 9.6
39 holoprosencephaly 9.6
40 temporal lobe epilepsy 9.6
41 lissencephaly 9.6
42 walker-warburg syndrome 9.6
43 pseudobulbar palsy 9.6
44 dysembryoplastic neuroepithelial tumor 9.6
45 turner syndrome 9.6
46 dyslexia 9.6
47 skin tag 9.6
48 diabetes insipidus 9.6
49 polymicrogyria 9.6
50 dwarfism 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 CALB1 MAP2 DCX PAFAH1B1 DYNC1H1 EMX2
2 cellular MP:0005384 10.1 MAP1B PAFAH1B1 EMX2 ADGRG1 ARFGEF2 FLNA
3 growth/size/body region MP:0005378 10 MAP1B MAP2 DCX DYNC1H1 PAFAH1B1 EMX2
4 mortality/aging MP:0010768 10 MAP2 DCX PAFAH1B1 DYNC1H1 EMX2 ARFGEF2
5 nervous system MP:0003631 9.86 CALB1 MAP2 DCX PAFAH1B1 DYNC1H1 EMX2
6 reproductive system MP:0005389 9.36 MAP2 DCX PAFAH1B1 DYNC1H1 EMX2 FLNA

Drugs & Therapeutics for Neuronal Migration Disorders

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

(show all 11)
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 Autonomic Agents Phase 4
4 Carbidopa, levodopa drug combination Phase 4
5 Dihydroxyphenylalanine Phase 4
6 Dopamine Agents Phase 4
7 Neurotransmitter Agents Phase 4
8 Peripheral Nervous System Agents Phase 4
9 Protective Agents Phase 4
10 Olive Nutraceutical Phase 4
11 Omega 3 Fatty Acid Nutraceutical Phase 4

Interventional clinical trials:


id 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 Omega-3 Fatty Acids Efficacy in First-episode of Schizophrenia Unknown status NCT02210962 Phase 4
3 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:

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 82)
id Title Authors Year
1
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders. ( 28953922 )
2017
2
Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. ( 26052266 )
2015
3
Neuronal migration disorders: Focus on the cytoskeleton and epilepsy. ( 26299390 )
2015
4
Rufinamide for the treatment of refractory epilepsy secondary to neuronal migration disorders. ( 24548548 )
2014
5
The Relevance of Human Fetal Subplate Zone for Developmental Neuropathology of Neuronal Migration Disorders and Cortical Dysplasia. ( 25312583 )
2014
6
Embryonic disruption of the candidate dyslexia susceptibility gene homolog Kiaa0319-like results in neuronal migration disorders. ( 23831424 )
2013
7
Cytoskeleton in action: lissencephaly, a neuronal migration disorder. ( 23495356 )
2013
8
Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. ( 20857301 )
2011
9
Molecular genetics of neuronal migration disorders. ( 21222180 )
2011
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
New trends in neuronal migration disorders. ( 19264520 )
2010
13
Dcx reexpression reduces subcortical band heterotopia and seizure threshold in an animal model of neuronal migration disorder. ( 19098909 )
2009
14
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
15
Movement disorder and neuronal migration disorder due to ARFGEF2 mutation. ( 19384555 )
2009
16
Neuronal migration disorders: clinical, neuroradiologic and genetics aspects. ( 19120042 )
2009
17
Neuronal migration disorders, agenesis of corpus callosum, preauricular skin tag and bilateral morning glory syndrome in a term newborn infant. ( 18388784 )
2008
18
Sudden death in a patient with mosaic ring X Turner syndrome and a neuronal migration disorder. ( 18049086 )
2008
19
N-cofilin is associated with neuronal migration disorders and cell cycle control in the cerebral cortex. ( 17875668 )
2007
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. ( 16434687 )
2006
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
Neuronal migration disorders. ( 16417844 )
2005
25
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. ( 15753412 )
2005
26
Neuronal migration disorders, genetics, and epileptogenesis. ( 15921228 )
2005
27
Are altered excitatory synapses found in neuronal migration disorders? ( 16175215 )
2005
28
Radial and tangential neuronal migration disorder in ibotenate-induced cortical lesions in hamsters: immunohistochemical study of reelin, vimentin, and calretinin. ( 15072103 )
2004
29
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
30
Upregulation of glutamate receptors in rat cerebral cortex with neuronal migration disorders. ( 15201510 )
2004
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
Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. ( 12707952 )
2003
33
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. ( 12369018 )
2002
34
Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation t(18p;21q) by fluorescence in situ hybridisation. ( 12150215 )
2002
35
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
36
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. ( 11709191 )
2001
37
Lactate and other metabolic changes in neuronal migration disorders. ( 11240607 )
2001
38
Neuronal migration disorders. ( 11553932 )
2001
39
Molecular mechanisms of neuronal migration disorders, quo vadis? ( 11899256 )
2001
40
Pathogenic significance of neuronal migration disorders in temporal lobe epilepsy. ( 11431720 )
2001
41
[Development and developmental disorders of the human brain. III. Neuronal migration disorders of the cerebrum]. ( 11268908 )
2001
42
Neuronal migration disorders: from genetic diseases to developmental mechanisms. ( 10906798 )
2000
43
Characterization of neuronal migration disorders in neocortical structures: loss or preservation of inhibitory interneurons? ( 10897147 )
2000
44
Single cause, polymorphic neuronal migration disorders: an animal model. ( 11085292 )
2000
45
Neuronal migration disorders in man. ( 11151046 )
2000
46
Immunohistochemical expression of doublecortin in the human cerebrum: comparison of normal development and neuronal migration disorders. ( 10773210 )
2000
47
A novel migration-related gene product, doublecortin, in neuronal migration disorder of fetuses and infants with Zellweger syndrome. ( 10963364 )
2000
48
The right neuron at the wrong place: biology of heterotopic neurons in cortical neuronal migration disorders, with special reference to associated pathologies. ( 10487203 )
1999
49
Neuronal migration disorders in humans and in mouse models--an overview. ( 10515161 )
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

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

id Super pathways Score Top Affiliating Genes
1 12.13 CALB1 DCX MAP2 PAFAH1B1
2 12.04 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:

id Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.77 CALB1 FLNA MAP2 PAFAH1B1 PVALB
2 extracellular matrix GO:0031012 9.76 DYNC1H1 FLNA NES VIM
3 axon GO:0030424 9.71 CALB1 PAFAH1B1 PVALB YWHAE
4 microtubule GO:0005874 9.65 DCX DYNC1H1 MAP1B MAP2 PAFAH1B1
5 dendritic spine GO:0043197 9.61 ARFGEF2 CALB1 MAP1B
6 cytoskeleton GO:0005856 9.56 ARFGEF2 DCX DYNC1H1 FLNA MAP1B MAP2
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 10.29 ARFGEF2 CALB1 DCX DYNC1H1 FLNA MAP1B

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

(show all 22)
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 DYNC1H1 NES PAFAH1B1 YWHAE
3 brain development GO:0007420 9.8 ADGRG1 DCX EMX2 NES PAFAH1B1 RELN
4 central nervous system development GO:0007417 9.77 DCX NES RELN
5 ciliary basal body docking GO:0097711 9.76 DYNC1H1 PAFAH1B1 YWHAE
6 forebrain development GO:0030900 9.74 ARX EMX2 RELN
7 dendrite morphogenesis GO:0048813 9.69 DCX MAP2 VLDLR
8 hippocampus development GO:0021766 9.67 DCX PAFAH1B1 RELN YWHAE
9 regulation of cytosolic calcium ion concentration GO:0051480 9.65 CALB1 PVALB YWHAE
10 axon extension GO:0048675 9.61 DCX MAP1B
11 positive regulation of dendritic spine morphogenesis GO:0061003 9.59 PAFAH1B1 RELN
12 cell proliferation in forebrain GO:0021846 9.58 ARX EMX2
13 positive regulation of neural precursor cell proliferation GO:2000179 9.58 ADGRG1 FLNA NES
14 cerebral cortex regionalization GO:0021796 9.56 ADGRG1 EMX2
15 ventral spinal cord development GO:0021517 9.55 RELN VLDLR
16 cerebral cortex development GO:0021987 9.55 EMX2 FLNA PAFAH1B1 RELN YWHAE
17 reelin-mediated signaling pathway GO:0038026 9.54 RELN VLDLR
18 cerebral cortex tangential migration GO:0021800 9.52 ARX RELN
19 dendrite development GO:0016358 9.46 MAP1B 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:

id 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
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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