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 55
Abnormality of Neuronal Migration 30 6
Malformations of Cortical Development, Group Ii 74
Neuronal Migration Disorder 38

Classifications:



External Ids:

KEGG 38 H01835
UMLS 74 C1837249

Summaries for Neuronal Migration Disorders

NINDS : 55 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 epilepsy. 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 Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 77 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 all 48)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 1 31.4 DCX PAFAH1B1 RELN
2 epilepsy 29.7 DCX RELN SCN1A
3 lissencephaly 29.6 DCX PAFAH1B1 RELN
4 periventricular nodular heterotopia 29.4 DCX EMX2 PAFAH1B1 RELN
5 band heterotopia 29.2 DCX EMX2 PAFAH1B1 RELN
6 pachygyria with mental retardation, seizures, and arachnoid cysts 11.0
7 flna-related periventricular nodular heterotopia 11.0
8 colpocephaly 11.0
9 chromosome 17p13.3, centromeric, duplication syndrome 10.2 DCX PAFAH1B1
10 lissencephaly, x-linked, 1 10.0 DCX PAFAH1B1
11 zellweger syndrome 9.9
12 muscular dystrophy 9.9
13 pachygyria 9.9
14 lissencephaly with cerebellar hypoplasia 9.9 DCX PAFAH1B1 RELN
15 cerebellar hypoplasia 9.9 DCX PAFAH1B1 RELN
16 schizencephaly 9.8 EMX2 WDR62
17 schizophrenia 9.8
18 major depressive disorder 9.8
19 bipolar disorder 9.8
20 depression 9.8
21 external auditory canal, bilateral atresia of, with congenital vertical talus 9.8
22 microcephalic osteodysplastic primordial dwarfism, type i 9.8
23 isolated growth hormone deficiency, type ia 9.8
24 knobloch syndrome 1 9.8
25 muscular dystrophy, congenital, lmna-related 9.8
26 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.8
27 cerebral palsy 9.8
28 holoprosencephaly 9.8
29 temporal lobe epilepsy 9.8
30 walker-warburg syndrome 9.8
31 pseudobulbar palsy 9.8
32 focal epilepsy 9.8
33 turner syndrome 9.8
34 dyslexia 9.8
35 skin tag 9.8
36 diabetes insipidus 9.8
37 polymicrogyria 9.8
38 dwarfism 9.8
39 knobloch syndrome 9.8
40 passos-bueno syndrome 9.8
41 rasmussen johnsen thomsen syndrome 9.8
42 monosomy 21 9.8
43 rasmussen subacute encephalitis 9.8
44 alobar holoprosencephaly 9.8
45 physical disorder 9.8 DCX PAFAH1B1 WDR62
46 tuberous sclerosis 9.8 DCX VIM
47 congenital nervous system abnormality 9.6 DCX PAFAH1B1 RELN WDR62
48 lennox-gastaut syndrome 9.5 DCX EMX2 SCN1A

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



Diseases related to Neuronal Migration Disorders

Symptoms & Phenotypes for Neuronal Migration Disorders

GenomeRNAi Phenotypes related to Neuronal Migration Disorders according to GeneCards Suite gene sharing:

27 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.66 EMX2 VIM
2 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.66 EMX2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.66 VIM
4 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.66 VIM
5 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.66 SCN1A VIM
6 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.66 SCN1A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.66 SCN1A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.66 VIM
9 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.66 VIM
10 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.66 SCN1A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.66 EMX2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.66 EMX2 SCN1A VIM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.66 VIM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.66 VIM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.66 EMX2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.66 VIM
17 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.66 SCN1A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.66 SCN1A

MGI Mouse Phenotypes related to Neuronal Migration Disorders:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.87 DCX DYNC1H1 EMX2 PAFAH1B1 RELN SCN1A
2 growth/size/body region MP:0005378 9.8 DCX DYNC1H1 EMX2 PAFAH1B1 RELN SCN1A
3 mortality/aging MP:0010768 9.7 DCX DYNC1H1 EMX2 PAFAH1B1 RELN SCN1A
4 nervous system MP:0003631 9.56 DCX DYNC1H1 EMX2 PAFAH1B1 RELN SCN1A
5 reproductive system MP:0005389 9.23 DCX DYNC1H1 EMX2 PAFAH1B1 RELN SCN1A

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 62-31-7, 51-61-6 681
2
Levodopa Approved Phase 4 59-92-7 6047
3 Dopamine Agents Phase 4
4 Dihydroxyphenylalanine Phase 4
5 Peripheral Nervous System Agents Phase 4
6 Carbidopa, levodopa drug combination Phase 4
7 Autonomic Agents Phase 4
8 Neurotransmitter Agents Phase 4
9 Sympathomimetics Phase 4
10 Cardiotonic Agents Phase 4
11 Protective 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 Human Epilepsy Genetics--Neuronal Migration Disorders Study Unknown status NCT00041600
3 Quality of Life Assessment Before and After Essure Removal Completed NCT03401437

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 30

Anatomical Context for Neuronal Migration Disorders

MalaCards organs/tissues related to Neuronal Migration Disorders:

42
Brain, Cerebellum, Cortex, Skin, Temporal Lobe

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 210)
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBA1A NM_006009.3(TUBA1A): c.1148C> T (p.Ala383Val) single nucleotide variant Likely pathogenic rs587784482 GRCh37 Chromosome 12, 49579001: 49579001
2 TUBA1A NM_006009.3(TUBA1A): c.1148C> T (p.Ala383Val) single nucleotide variant Likely pathogenic rs587784482 GRCh38 Chromosome 12, 49185218: 49185218
3 TTN NM_001267550.2(TTN): c.88972A> G (p.Ile29658Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200193877 GRCh38 Chromosome 2, 178554139: 178554139
4 TTN NM_001267550.2(TTN): c.88972A> G (p.Ile29658Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200193877 GRCh37 Chromosome 2, 179418866: 179418866
5 DMD NM_004013.2(DMD): c.928G> A (p.Asp310Asn) single nucleotide variant Benign/Likely benign rs138399787 GRCh37 Chromosome X, 31525480: 31525480
6 DMD NM_004013.2(DMD): c.928G> A (p.Asp310Asn) single nucleotide variant Benign/Likely benign rs138399787 GRCh38 Chromosome X, 31507363: 31507363
7 NXPE3 NM_001134456.1(NXPE3): c.462delG (p.Ala155Leufs) deletion Benign rs863223381 GRCh38 Chromosome 3, 101801603: 101801603
8 TTN NM_001267550.2(TTN): c.1051G> A (p.Val351Met) single nucleotide variant Uncertain significance rs772889673 GRCh37 Chromosome 2, 179659843: 179659843
9 TTN NM_001267550.2(TTN): c.1051G> A (p.Val351Met) single nucleotide variant Uncertain significance rs772889673 GRCh38 Chromosome 2, 178795116: 178795116
10 COL3A1 NM_000090.3(COL3A1): c.2110G> A (p.Glu704Lys) single nucleotide variant Uncertain significance rs863223362 GRCh38 Chromosome 2, 188999372: 188999372
11 COL3A1 NM_000090.3(COL3A1): c.2110G> A (p.Glu704Lys) single nucleotide variant Uncertain significance rs863223362 GRCh37 Chromosome 2, 189864098: 189864098
12 MROH2A NM_001287395.1(MROH2A): c.1961G> A (p.Arg654Gln) single nucleotide variant Benign rs863223390 GRCh38 Chromosome 2, 233805011: 233805011
13 MROH2A NM_001287395.1(MROH2A): c.1961G> A (p.Arg654Gln) single nucleotide variant Benign rs863223390 GRCh37 Chromosome 2, 234713657: 234713657
14 MROH2A NM_001287395.1(MROH2A): c.2844_2845insGG (p.Leu950Glyfs) insertion Benign rs863223391 GRCh37 Chromosome 2, 234723302: 234723303
15 MROH2A NM_001287395.1(MROH2A): c.2844_2845insGG (p.Leu950Glyfs) insertion Benign rs863223391 GRCh38 Chromosome 2, 233814656: 233814657
16 THADA NM_001271643.1(THADA): c.2468C> T (p.Ser823Leu) single nucleotide variant Benign rs201555818 GRCh38 Chromosome 2, 43556551: 43556551
17 THADA NM_001271643.1(THADA): c.2468C> T (p.Ser823Leu) single nucleotide variant Benign rs201555818 GRCh37 Chromosome 2, 43783690: 43783690
18 THADA NM_001271643.1(THADA): c.362G> A (p.Arg121His) single nucleotide variant Benign rs769958179 GRCh38 Chromosome 2, 43586943: 43586943
19 THADA NM_001271643.1(THADA): c.362G> A (p.Arg121His) single nucleotide variant Benign rs769958179 GRCh37 Chromosome 2, 43814082: 43814082
20 NXPE3 NM_001134456.1(NXPE3): c.452_459delTCAAGCTG (p.Leu151Profs) deletion Benign rs863223380 GRCh38 Chromosome 3, 101801593: 101801600
21 NXPE3 NM_001134456.1(NXPE3): c.452_459delTCAAGCTG (p.Leu151Profs) deletion Benign rs863223380 GRCh37 Chromosome 3, 101520437: 101520444
22 NXPE3 NM_001134456.1(NXPE3): c.462delG (p.Ala155Leufs) deletion Benign rs863223381 GRCh37 Chromosome 3, 101520447: 101520447
23 NXPE3 NM_001134456.1(NXPE3): c.956G> C (p.Gly319Ala) single nucleotide variant Benign rs140150886 GRCh38 Chromosome 3, 101816828: 101816828
24 NXPE3 NM_001134456.1(NXPE3): c.956G> C (p.Gly319Ala) single nucleotide variant Benign rs140150886 GRCh37 Chromosome 3, 101535672: 101535672
25 PARP14 NM_017554.2(PARP14): c.1455T> A (p.Ser485Arg) single nucleotide variant Benign rs863223384 GRCh38 Chromosome 3, 122700009: 122700009
26 PARP14 NM_017554.2(PARP14): c.1455T> A (p.Ser485Arg) single nucleotide variant Benign rs863223384 GRCh37 Chromosome 3, 122418856: 122418856
27 PARP14 NM_017554.2(PARP14): c.2083C> A (p.Pro695Thr) single nucleotide variant Benign rs863223385 GRCh38 Chromosome 3, 122700637: 122700637
28 PARP14 NM_017554.2(PARP14): c.2083C> A (p.Pro695Thr) single nucleotide variant Benign rs863223385 GRCh37 Chromosome 3, 122419484: 122419484
29 TNK2 NM_001010938.1(TNK2): c.1966G> A (p.Val656Met) single nucleotide variant Benign rs375205272 GRCh37 Chromosome 3, 195595392: 195595392
30 TNK2 NM_001010938.1(TNK2): c.1966G> A (p.Val656Met) single nucleotide variant Benign rs375205272 GRCh38 Chromosome 3, 195868521: 195868521
31 TNK2 NM_001010938.1(TNK2): c.955C> T (p.Arg319Cys) single nucleotide variant Benign rs767408627 GRCh37 Chromosome 3, 195609043: 195609043
32 TNK2 NM_001010938.1(TNK2): c.955C> T (p.Arg319Cys) single nucleotide variant Benign rs767408627 GRCh38 Chromosome 3, 195882172: 195882172
33 ATXN7 NM_001177387.1(ATXN7): c.211T> G (p.Ser71Ala) single nucleotide variant Benign rs201561286 GRCh38 Chromosome 3, 63912809: 63912809
34 ATXN7 NM_001177387.1(ATXN7): c.211T> G (p.Ser71Ala) single nucleotide variant Benign rs201561286 GRCh37 Chromosome 3, 63898485: 63898485
35 ATXN7 NM_001177387.1(ATXN7): c.844G> A (p.Val282Met) single nucleotide variant Benign rs863223393 GRCh38 Chromosome 3, 63982277: 63982277
36 ATXN7 NM_001177387.1(ATXN7): c.844G> A (p.Val282Met) single nucleotide variant Benign rs863223393 GRCh37 Chromosome 3, 63967953: 63967953
37 PI4K2B NM_018323.3(PI4K2B): c.10C> A (p.Pro4Thr) single nucleotide variant Benign rs863223383 GRCh38 Chromosome 4, 25234173: 25234173
38 PI4K2B NM_018323.3(PI4K2B): c.10C> A (p.Pro4Thr) single nucleotide variant Benign rs863223383 GRCh37 Chromosome 4, 25235795: 25235795
39 PI4K2B NM_018323.3(PI4K2B): c.861G> T (p.Gln287His) single nucleotide variant Benign rs143048917 GRCh38 Chromosome 4, 25259141: 25259141
40 PI4K2B NM_018323.3(PI4K2B): c.861G> T (p.Gln287His) single nucleotide variant Benign rs143048917 GRCh37 Chromosome 4, 25260763: 25260763
41 TLR6 NM_006068.4(TLR6): c.1729_1730delAT (p.Met577Valfs) deletion Benign rs863223364 GRCh37 Chromosome 4, 38829365: 38829366
42 TLR6 NM_006068.4(TLR6): c.1729_1730delAT (p.Met577Valfs) deletion Benign rs863223364 GRCh38 Chromosome 4, 38827744: 38827745
43 LRRC66 NM_001024611.2(LRRC66): c.1823delG (p.Gly608Alafs) deletion Benign rs863223368 GRCh38 Chromosome 4, 51995199: 51995199
44 LRRC66 NM_001024611.2(LRRC66): c.1823delG (p.Gly608Alafs) deletion Benign rs863223368 GRCh37 Chromosome 4, 52861365: 52861365
45 ADAM19 NM_033274.4(ADAM19): c.2563C> T (p.Pro855Ser) single nucleotide variant Benign rs863223367 GRCh37 Chromosome 5, 156908939: 156908939
46 ADAM19 NM_033274.4(ADAM19): c.2563C> T (p.Pro855Ser) single nucleotide variant Benign rs863223367 GRCh38 Chromosome 5, 157481931: 157481931
47 PLEKHG4B NM_052909.4(PLEKHG4B): c.2635G> A (p.Glu879Lys) single nucleotide variant Benign rs568109142 GRCh37 Chromosome 5, 162045: 162045
48 PLEKHG4B NM_052909.4(PLEKHG4B): c.2635G> A (p.Glu879Lys) single nucleotide variant Benign rs568109142 GRCh38 Chromosome 5, 161930: 161930
49 PLEKHG4B NM_052909.4(PLEKHG4B): c.3830G> A (p.Arg1277Gln) single nucleotide variant Benign rs116480186 GRCh37 Chromosome 5, 171339: 171339
50 PLEKHG4B NM_052909.4(PLEKHG4B): c.3830G> A (p.Arg1277Gln) single nucleotide variant Benign rs116480186 GRCh38 Chromosome 5, 171224: 171224

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 12.03 DCX PAFAH1B1 SCN1A
2 11.92 DCX PAFAH1B1 VIM
3 10.62 PAFAH1B1 RELN
4 10.42 DCX DYNC1H1 PAFAH1B1 RELN
5 10.4 DYNC1H1 PAFAH1B1

GO Terms for Neuronal Migration Disorders

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

# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.54 DYNC1H1 PAFAH1B1 WDR62
2 neuron projection GO:0043005 9.5 DCX PAFAH1B1 VIM
3 microtubule GO:0005874 9.43 DCX DYNC1H1 PAFAH1B1
4 cell leading edge GO:0031252 9.16 PAFAH1B1 VIM
5 cytoskeleton GO:0005856 9.02 DCX DYNC1H1 PAFAH1B1 VIM WDR62
6 microtubule associated complex GO:0005875 8.96 DCX PAFAH1B1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.78 DCX EMX2 PAFAH1B1 RELN
2 nervous system development GO:0007399 9.7 DCX PAFAH1B1 WDR62
3 ciliary basal body-plasma membrane docking GO:0097711 9.51 DYNC1H1 PAFAH1B1
4 neuron migration GO:0001764 9.5 DCX PAFAH1B1 RELN
5 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.49 DYNC1H1 PAFAH1B1
6 forebrain development GO:0030900 9.46 EMX2 RELN
7 brain development GO:0007420 9.46 DCX EMX2 PAFAH1B1 RELN
8 negative regulation of neuron projection development GO:0010977 9.43 PAFAH1B1 VIM
9 hippocampus development GO:0021766 9.43 DCX PAFAH1B1 RELN
10 mitotic spindle organization GO:0007052 9.4 DYNC1H1 WDR62
11 positive regulation of dendritic spine morphogenesis GO:0061003 9.37 PAFAH1B1 RELN
12 layer formation in cerebral cortex GO:0021819 9.13 DCX PAFAH1B1 RELN
13 cerebral cortex development GO:0021987 8.92 EMX2 PAFAH1B1 RELN WDR62

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

# Name GO ID Score Top Affiliating Genes
1 dynein intermediate chain binding GO:0045505 8.62 DYNC1H1 PAFAH1B1

Sources for Neuronal Migration Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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