MCID: NRN016
MIFTS: 39

Neuronal Migration Disorders

Categories: Neuronal diseases

Aliases & Classifications for Neuronal Migration Disorders

MalaCards integrated aliases for Neuronal Migration Disorders:

Name: Neuronal Migration Disorders 54
Abnormality of Neuronal Migration 29 6
Malformations of Cortical Development, Group Ii 73
Neuronal Migration Disorder 37

Classifications:



External Ids:

KEGG 37 H01835
UMLS 73 C1837249

Summaries for Neuronal Migration Disorders

NINDS : 54 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 abnormality of neuronal migration, 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 : 76 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)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 1 31.8 DCX PAFAH1B1 RELN
2 pachygyria 30.3 ADGRG1 PAFAH1B1
3 band heterotopia 29.6 DCX EMX2 FLNA PAFAH1B1 RELN
4 temporal lobe epilepsy 29.5 CALB1 PVALB RELN
5 lissencephaly 29.5 ARX DCX PAFAH1B1 RELN VLDLR YWHAE
6 periventricular nodular heterotopia 29.1 ADGRG1 ARFGEF2 DCX EMX2 FLNA MAP1B
7 pachygyria with mental retardation, seizures, and arachnoid cysts 11.0
8 flna-related periventricular nodular heterotopia 11.0
9 colpocephaly 11.0
10 epilepsy 10.3
11 lissencephaly 2 10.2 ARX RELN
12 papillary tumor of the pineal region 10.2 MAP2 VIM
13 chromosomal duplication syndrome 10.2 PAFAH1B1 YWHAE
14 lissencephaly, x-linked, 1 10.2 ARX DCX PAFAH1B1
15 dysembryoplastic neuroepithelial tumor 10.2 MAP2 NES
16 ependymoblastoma 10.2 NES VIM
17 chromosome 17p13.3, centromeric, duplication syndrome 10.2 DCX PAFAH1B1 YWHAE
18 optic nerve glioma 10.2 MAP2 NES VIM
19 hypertensive encephalopathy 10.2 DCX VLDLR
20 astroblastoma 10.2 NES VIM
21 cerebellar ataxia, nonprogressive, with mental retardation 10.1 RELN VLDLR
22 lennox-gastaut syndrome 10.1 ADGRG1 DCX EMX2
23 mucopolysaccharidosis, type iiia 10.1 MAP2 NES
24 microcephaly 13, primary, autosomal recessive 10.1 ADGRG1 WDR62
25 medulloepithelioma 10.1 NES VIM
26 cerebellar hypoplasia 10.1 DCX PAFAH1B1 RELN VLDLR
27 spinocerebellar ataxia 37 10.1 CALB1 RELN
28 odontoma 10.0 NES VIM
29 lissencephaly with cerebellar hypoplasia 10.0 ARX DCX PAFAH1B1 RELN VLDLR
30 breast fibrosarcoma 10.0 CALB1 PVALB
31 physical disorder 10.0 DCX FLNA PAFAH1B1 WDR62
32 zellweger syndrome 9.9
33 muscular dystrophy 9.9
34 west syndrome 9.8 ARFGEF2 ARX FLNA PAFAH1B1 PVALB
35 schizophrenia 9.8
36 major depressive disorder 9.8
37 bipolar disorder 9.8
38 depression 9.8
39 congenital nervous system abnormality 9.8 ARFGEF2 DCX FLNA PAFAH1B1 RELN WDR62
40 external auditory canal, bilateral atresia of, with congenital vertical talus 9.8
41 microcephalic osteodysplastic primordial dwarfism, type i 9.8
42 isolated growth hormone deficiency, type ia 9.8
43 knobloch syndrome 1 9.8
44 muscular dystrophy, congenital, lmna-related 9.8
45 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.8
46 cerebral palsy 9.8
47 holoprosencephaly 9.8
48 walker-warburg syndrome 9.8
49 pseudobulbar palsy 9.8
50 turner syndrome 9.8

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.24 ADGRG1 ARX CALB1 DCX DYNC1H1 EMX2
2 cellular MP:0005384 10.17 ADGRG1 ARFGEF2 ARX EMX2 FLNA KIAA0319
3 growth/size/body region MP:0005378 10.03 ARFGEF2 ARX DCX DYNC1H1 EMX2 FLNA
4 mortality/aging MP:0010768 10 ARFGEF2 ARX DCX DYNC1H1 EMX2 FLNA
5 nervous system MP:0003631 9.91 ADGRG1 ARFGEF2 ARX CALB1 DCX DYNC1H1
6 reproductive system MP:0005389 9.4 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 11)
# 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 Dopamine Agents Phase 4
4 Neurotransmitter Agents Phase 4
5 Carbidopa, levodopa drug combination Phase 4
6 Sympathomimetics Phase 4
7 Dihydroxyphenylalanine Phase 4
8 Peripheral Nervous System Agents Phase 4
9 Cardiotonic Agents Phase 4
10 Protective Agents Phase 4
11 Autonomic Agents 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 Quality of Life Assessment Before and After Essure Removal Completed NCT03401437
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:

# Genetic test Affiliating Genes
1 Abnormality of Neuronal Migration 29

Anatomical Context for Neuronal Migration Disorders

MalaCards organs/tissues related to Neuronal Migration Disorders:

41
Brain, Cerebellum, Cortex, Skin, Temporal Lobe, Pineal

Publications for Neuronal Migration Disorders

Articles related to Neuronal Migration Disorders:

(show top 50) (show all 68)
# 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
Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. ( 20857301 )
2011
9
Molecular genetics of neuronal migration disorders. ( 21222180 )
2011
10
The beta-tubulin gene TUBB2B is involved in a large spectrum of neuronal migration disorders. ( 20101787 )
2010
11
Neuronal migration disorders. ( 19245832 )
2010
12
New trends in neuronal migration disorders. ( 19264520 )
2010
13
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
14
Neuronal migration disorders, agenesis of corpus callosum, preauricular skin tag and bilateral morning glory syndrome in a term newborn infant. ( 18388784 )
2008
15
N-cofilin is associated with neuronal migration disorders and cell cycle control in the cerebral cortex. ( 17875668 )
2007
16
Grey matter heterotopia: what EEG-fMRI can tell us about epileptogenicity of neuronal migration disorders. ( 16339793 )
2006
17
Neurophysiologic findings of neuronal migration disorders: intrinsic epileptogenicity of focal cortical dysplasia on electroencephalography, electrocorticography, and magnetoencephalography. ( 15921239 )
2005
18
Are altered excitatory synapses found in neuronal migration disorders? ( 16175215 )
2005
19
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
20
Neuronal migration disorders, genetics, and epileptogenesis. ( 15921228 )
2005
21
Neuronal migration disorders. ( 16417844 )
2005
22
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
23
Upregulation of glutamate receptors in rat cerebral cortex with neuronal migration disorders. ( 15201510 )
2004
24
Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. ( 12707952 )
2003
25
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
26
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
27
Lactate and other metabolic changes in neuronal migration disorders. ( 11240607 )
2001
28
Neuronal migration disorders. ( 11553932 )
2001
29
Molecular mechanisms of neuronal migration disorders, quo vadis? ( 11899256 )
2001
30
Pathogenic significance of neuronal migration disorders in temporal lobe epilepsy. ( 11431720 )
2001
31
[Development and developmental disorders of the human brain. III. Neuronal migration disorders of the cerebrum]. ( 11268908 )
2001
32
Neuronal migration disorders in man. ( 11151046 )
2000
33
Characterization of neuronal migration disorders in neocortical structures: loss or preservation of inhibitory interneurons? ( 10897147 )
2000
34
Single cause, polymorphic neuronal migration disorders: an animal model. ( 11085292 )
2000
35
Neuronal migration disorders: from genetic diseases to developmental mechanisms. ( 10906798 )
2000
36
Immunohistochemical expression of doublecortin in the human cerebrum: comparison of normal development and neuronal migration disorders. ( 10773210 )
2000
37
Neuronal migration disorders in humans and in mouse models--an overview. ( 10515161 )
1999
38
Neuronal migration disorders in cerebral palsy. ( 19519643 )
1999
39
Electrophysiological responses in vivo of hippocampal CA1 pyramidal neurons in an animal model of neuronal migration disorders. ( 10575261 )
1999
40
Metabolic changes in neuronal migration disorders: evaluation by combined MRI and proton MR spectroscopy. ( 10403210 )
1999
41
The right neuron at the wrong place: biology of heterotopic neurons in cortical neuronal migration disorders, with special reference to associated pathologies. ( 10487203 )
1999
42
Neuronal migration disorders. Part I: Terminology, classification, pathophysiology, EEG and epilepsy. ( 10028855 )
1998
43
Neuronal migration disorders: heterotopic neocortical neurons in CA1 provide a bridge between the hippocampus and the neocortex. ( 9707635 )
1998
44
Characterization of neuronal migration disorders in neocortical structures. II. Intracellular in vitro recordings. ( 9658031 )
1998
45
Transplacentally induced neuronal migration disorders: an animal model for the study of the epilepsies. ( 9514201 )
1998
46
Characterization of neuronal migration disorders in neocortical structures: extracellular in vitro recordings. ( 9786203 )
1998
47
Neuronal migration disorders. Part II: Magnetic resonance imaging. ( 10028856 )
1998
48
Congenital muscular dystrophy, white-matter abnormalities, and neuronal migration disorders: the expanding concept. ( 9796753 )
1998
49
Characterization of neuronal migration disorders in neocortical structures: quantitative receptor autoradiography of ionotropic glutamate, GABA(A) and GABA(B) receptors. ( 9786204 )
1998
50
Evidence of enhanced kindling and hippocampal neuronal injury in immature rats with neuronal migration disorders. ( 9860059 )
1998

Variations for Neuronal Migration Disorders

ClinVar genetic disease variations for Neuronal Migration Disorders:

6 (show top 50) (show all 204)
# Gene Variation Type Significance SNP ID Assembly Location
1 TTN; TTN-AS1 NM_001267550.2(TTN): c.32462C> T (p.Pro10821Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs146400809 GRCh37 Chromosome 2, 179549988: 179549988
2 TTN; TTN-AS1 NM_001267550.2(TTN): c.32462C> T (p.Pro10821Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs146400809 GRCh38 Chromosome 2, 178685261: 178685261
3 TTN; TTN-AS1 NM_001267550.2(TTN): c.7961G> A (p.Arg2654Lys) single nucleotide variant Likely benign rs147207100 GRCh37 Chromosome 2, 179636093: 179636093
4 TTN; TTN-AS1 NM_001267550.2(TTN): c.7961G> A (p.Arg2654Lys) single nucleotide variant Likely benign rs147207100 GRCh38 Chromosome 2, 178771366: 178771366
5 TUBA1A NM_006009.3(TUBA1A): c.1148C> T (p.Ala383Val) single nucleotide variant Likely pathogenic rs587784482 GRCh37 Chromosome 12, 49579001: 49579001
6 TUBA1A NM_006009.3(TUBA1A): c.1148C> T (p.Ala383Val) single nucleotide variant Likely pathogenic rs587784482 GRCh38 Chromosome 12, 49185218: 49185218
7 TTN NM_001267550.2(TTN): c.88972A> G (p.Ile29658Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200193877 GRCh38 Chromosome 2, 178554139: 178554139
8 TTN NM_001267550.2(TTN): c.88972A> G (p.Ile29658Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200193877 GRCh37 Chromosome 2, 179418866: 179418866
9 DMD NM_004013.2(DMD): c.928G> A (p.Asp310Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs138399787 GRCh37 Chromosome X, 31525480: 31525480
10 DMD NM_004013.2(DMD): c.928G> A (p.Asp310Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs138399787 GRCh38 Chromosome X, 31507363: 31507363
11 TNK2 NM_001010938.1(TNK2): c.1966G> A (p.Val656Met) single nucleotide variant Benign rs375205272 GRCh38 Chromosome 3, 195868521: 195868521
12 TTN NM_001267550.2(TTN): c.1051G> A (p.Val351Met) single nucleotide variant Uncertain significance rs772889673 GRCh37 Chromosome 2, 179659843: 179659843
13 TTN NM_001267550.2(TTN): c.1051G> A (p.Val351Met) single nucleotide variant Uncertain significance rs772889673 GRCh38 Chromosome 2, 178795116: 178795116
14 COL3A1 NM_000090.3(COL3A1): c.2110G> A (p.Glu704Lys) single nucleotide variant Uncertain significance rs863223362 GRCh38 Chromosome 2, 188999372: 188999372
15 COL3A1 NM_000090.3(COL3A1): c.2110G> A (p.Glu704Lys) single nucleotide variant Uncertain significance rs863223362 GRCh37 Chromosome 2, 189864098: 189864098
16 MROH2A NM_001287395.1(MROH2A): c.1961G> A (p.Arg654Gln) single nucleotide variant Benign rs863223390 GRCh38 Chromosome 2, 233805011: 233805011
17 MROH2A NM_001287395.1(MROH2A): c.1961G> A (p.Arg654Gln) single nucleotide variant Benign rs863223390 GRCh37 Chromosome 2, 234713657: 234713657
18 MROH2A NM_001287395.1(MROH2A): c.2844_2845insGG (p.Leu950Glyfs) insertion Benign rs863223391 GRCh37 Chromosome 2, 234723302: 234723303
19 MROH2A NM_001287395.1(MROH2A): c.2844_2845insGG (p.Leu950Glyfs) insertion Benign rs863223391 GRCh38 Chromosome 2, 233814656: 233814657
20 THADA NM_001271643.1(THADA): c.2468C> T (p.Ser823Leu) single nucleotide variant Benign rs201555818 GRCh38 Chromosome 2, 43556551: 43556551
21 THADA NM_001271643.1(THADA): c.2468C> T (p.Ser823Leu) single nucleotide variant Benign rs201555818 GRCh37 Chromosome 2, 43783690: 43783690
22 THADA NM_001271643.1(THADA): c.362G> A (p.Arg121His) single nucleotide variant Benign rs769958179 GRCh38 Chromosome 2, 43586943: 43586943
23 THADA NM_001271643.1(THADA): c.362G> A (p.Arg121His) single nucleotide variant Benign rs769958179 GRCh37 Chromosome 2, 43814082: 43814082
24 NXPE3 NM_001134456.1(NXPE3): c.452_459delTCAAGCTG (p.Leu151Profs) deletion Benign rs863223380 GRCh38 Chromosome 3, 101801593: 101801600
25 NXPE3 NM_001134456.1(NXPE3): c.452_459delTCAAGCTG (p.Leu151Profs) deletion Benign rs863223380 GRCh37 Chromosome 3, 101520437: 101520444
26 NXPE3 NM_001134456.1(NXPE3): c.462delG (p.Ala155Leufs) deletion Benign rs863223381 GRCh38 Chromosome 3, 101801603: 101801603
27 NXPE3 NM_001134456.1(NXPE3): c.462delG (p.Ala155Leufs) deletion Benign rs863223381 GRCh37 Chromosome 3, 101520447: 101520447
28 NXPE3 NM_001134456.1(NXPE3): c.956G> C (p.Gly319Ala) single nucleotide variant Benign rs140150886 GRCh38 Chromosome 3, 101816828: 101816828
29 NXPE3 NM_001134456.1(NXPE3): c.956G> C (p.Gly319Ala) single nucleotide variant Benign rs140150886 GRCh37 Chromosome 3, 101535672: 101535672
30 PARP14 NM_017554.2(PARP14): c.1455T> A (p.Ser485Arg) single nucleotide variant Benign rs863223384 GRCh38 Chromosome 3, 122700009: 122700009
31 PARP14 NM_017554.2(PARP14): c.1455T> A (p.Ser485Arg) single nucleotide variant Benign rs863223384 GRCh37 Chromosome 3, 122418856: 122418856
32 PARP14 NM_017554.2(PARP14): c.2083C> A (p.Pro695Thr) single nucleotide variant Benign rs863223385 GRCh38 Chromosome 3, 122700637: 122700637
33 PARP14 NM_017554.2(PARP14): c.2083C> A (p.Pro695Thr) single nucleotide variant Benign rs863223385 GRCh37 Chromosome 3, 122419484: 122419484
34 TNK2 NM_001010938.1(TNK2): c.1966G> A (p.Val656Met) single nucleotide variant Benign rs375205272 GRCh37 Chromosome 3, 195595392: 195595392
35 TNK2 NM_001010938.1(TNK2): c.955C> T (p.Arg319Cys) single nucleotide variant Benign rs767408627 GRCh37 Chromosome 3, 195609043: 195609043
36 TNK2 NM_001010938.1(TNK2): c.955C> T (p.Arg319Cys) single nucleotide variant Benign rs767408627 GRCh38 Chromosome 3, 195882172: 195882172
37 ATXN7 NM_001177387.1(ATXN7): c.211T> G (p.Ser71Ala) single nucleotide variant Benign rs201561286 GRCh38 Chromosome 3, 63912809: 63912809
38 ATXN7 NM_001177387.1(ATXN7): c.211T> G (p.Ser71Ala) single nucleotide variant Benign rs201561286 GRCh37 Chromosome 3, 63898485: 63898485
39 ATXN7 NM_001177387.1(ATXN7): c.844G> A (p.Val282Met) single nucleotide variant Benign rs863223393 GRCh38 Chromosome 3, 63982277: 63982277
40 ATXN7 NM_001177387.1(ATXN7): c.844G> A (p.Val282Met) single nucleotide variant Benign rs863223393 GRCh37 Chromosome 3, 63967953: 63967953
41 PI4K2B NM_018323.3(PI4K2B): c.10C> A (p.Pro4Thr) single nucleotide variant Benign rs863223383 GRCh38 Chromosome 4, 25234173: 25234173
42 PI4K2B NM_018323.3(PI4K2B): c.10C> A (p.Pro4Thr) single nucleotide variant Benign rs863223383 GRCh37 Chromosome 4, 25235795: 25235795
43 PI4K2B NM_018323.3(PI4K2B): c.861G> T (p.Gln287His) single nucleotide variant Benign rs143048917 GRCh38 Chromosome 4, 25259141: 25259141
44 PI4K2B NM_018323.3(PI4K2B): c.861G> T (p.Gln287His) single nucleotide variant Benign rs143048917 GRCh37 Chromosome 4, 25260763: 25260763
45 TLR6 NM_006068.4(TLR6): c.1729_1730delAT (p.Met577Valfs) deletion Benign rs863223364 GRCh37 Chromosome 4, 38829365: 38829366
46 TLR6 NM_006068.4(TLR6): c.1729_1730delAT (p.Met577Valfs) deletion Benign rs863223364 GRCh38 Chromosome 4, 38827744: 38827745
47 LRRC66 NM_001024611.2(LRRC66): c.1823delG (p.Gly608Alafs) deletion Benign rs863223368 GRCh38 Chromosome 4, 51995199: 51995199
48 LRRC66 NM_001024611.2(LRRC66): c.1823delG (p.Gly608Alafs) deletion Benign rs863223368 GRCh37 Chromosome 4, 52861365: 52861365
49 ADAM19 NM_033274.4(ADAM19): c.2563C> T (p.Pro855Ser) single nucleotide variant Benign rs863223367 GRCh37 Chromosome 5, 156908939: 156908939
50 ADAM19 NM_033274.4(ADAM19): c.2563C> T (p.Pro855Ser) single nucleotide variant Benign rs863223367 GRCh38 Chromosome 5, 157481931: 157481931

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 11)
# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.85 ARFGEF2 CALB1 MAP1B MAP2 RELN
2 neuron projection GO:0043005 9.8 CALB1 DCX MAP2 PAFAH1B1 VIM
3 axon GO:0030424 9.77 CALB1 MAP1B PAFAH1B1 PVALB YWHAE
4 microtubule GO:0005874 9.72 DCX DYNC1H1 MAP1B MAP2 PAFAH1B1
5 neuronal cell body GO:0043025 9.63 CALB1 FLNA MAP1B MAP2 PAFAH1B1 PVALB
6 cytoskeleton GO:0005856 9.61 ARFGEF2 DCX DYNC1H1 FLNA MAP1B MAP2
7 apical dendrite GO:0097440 9.49 FLNA MAP1B
8 basal dendrite GO:0097441 9.43 MAP1B MAP2
9 central region of growth cone GO:0090724 9.26 PAFAH1B1 YWHAE
10 microtubule associated complex GO:0005875 8.92 DCX MAP1B MAP2 PAFAH1B1
11 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 23)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.8 ADGRG1 DCX EMX2 NES PAFAH1B1 RELN
2 central nervous system development GO:0007417 9.79 DCX NES RELN
3 microtubule cytoskeleton organization GO:0000226 9.77 MAP1B MAP2 PAFAH1B1
4 ciliary basal body-plasma membrane docking GO:0097711 9.77 DYNC1H1 PAFAH1B1 YWHAE
5 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.75 DYNC1H1 PAFAH1B1 YWHAE
6 forebrain development GO:0030900 9.74 ARX EMX2 RELN
7 hippocampus development GO:0021766 9.73 DCX PAFAH1B1 RELN
8 G2/M transition of mitotic cell cycle GO:0000086 9.73 DYNC1H1 NES PAFAH1B1 YWHAE
9 regulation of cytosolic calcium ion concentration GO:0051480 9.7 CALB1 PVALB YWHAE
10 dendrite morphogenesis GO:0048813 9.65 DCX MAP2 VLDLR
11 cerebral cortex development GO:0021987 9.65 EMX2 FLNA PAFAH1B1 RELN WDR62
12 dendrite development GO:0016358 9.63 MAP1B MAP2 RELN
13 positive regulation of dendritic spine morphogenesis GO:0061003 9.61 PAFAH1B1 RELN
14 cell proliferation in forebrain GO:0021846 9.58 ARX EMX2
15 ventral spinal cord development GO:0021517 9.55 RELN VLDLR
16 cerebral cortex regionalization GO:0021796 9.54 ADGRG1 EMX2
17 positive regulation of neural precursor cell proliferation GO:2000179 9.54 ADGRG1 FLNA NES
18 cerebral cortex tangential migration GO:0021800 9.51 ARX RELN
19 reelin-mediated signaling pathway GO:0038026 9.49 RELN VLDLR
20 layer formation in cerebral cortex GO:0021819 9.46 ADGRG1 DCX PAFAH1B1 RELN
21 neuron migration GO:0001764 9.43 ARX DCX KIAA0319 MAP1B PAFAH1B1 RELN
22 nervous system development GO:0007399 9.28 ADGRG1 ARX DCX KIAA0319 MAP1B NES
23 multicellular organism development GO:0007275 10.01 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 microtubule binding GO:0008017 9.26 DCX MAP1B MAP2 PAFAH1B1
2 structural molecule activity GO:0005198 8.92 MAP1B MAP2 NES VIM

Sources for Neuronal Migration Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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