MCID: NRN016
MIFTS: 32

Neuronal Migration Disorders malady

Neuronal diseases category

Summaries for Neuronal Migration Disorders

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43NINDS, 63Wikipedia, 32MalaCards
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NINDS:43 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, mental retardation, 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: Neuronal Migration Disorders is related to zellweger syndrome and focal epilepsy. An important gene associated with Neuronal Migration Disorders is ARX (aristaless related homeobox), and among its related pathways are Lissencephaly gene (LIS1) in neuronal migration and development and Neuroscience. The compounds nmda and cyanine have been mentioned in the context of this disorder. Affiliated tissues include brain and cerebellum, and related mouse phenotypes are muscle and reproductive system.

Wikipedia:63 Nervous system disease refers to a general class of medical conditions affecting the nervous system. more...

Aliases & Classifications for Neuronal Migration Disorders

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43NINDS, 60UMLS
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Anatomical: Neuronal diseases


Aliases & Descriptions:

neuronal migration disorders 43 60


Related Diseases for Neuronal Migration Disorders

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17GeneCards, 18GeneDecks
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Diseases related to Neuronal Migration Disorders via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1zellweger syndrome30.2PEX2, DCX, NES
2focal epilepsy30.2DCX, PAFAH1B1, EMX2, GPR56
3muscular dystrophy30.2LOC619409, FKTN, POMT1, POMGNT1
4periventricular nodular heterotopia30.2PAFAH1B1, RELN, EMX2, DCX, FLNA, ARFGEF2
5pseudobulbar palsy30.0ARFGEF2
6walker-warburg syndrome30.0POMGNT1, POMT1, FKTN
7polymicrogyria30.0GPR56
8lissencephaly 130.0DCX, RELN, PAFAH1B1
9temporal lobe epilepsy30.0PVALB, RELN, CALB1
10lissencephaly29.9DCX, ARX, FLNA, DCLK1, PAFAH1B1, GPR56
11neuronitis11.0
12cerebritis10.3
13reading disorder10.2
14dysembryoplastic neuroepithelial tumor10.0
15dyslexia10.0
16diabetes insipidus10.0
17holoprosencephaly10.0
18cerebral palsy10.0
19congenital muscular dystrophy10.0
20skin tag10.0
21turner syndrome10.0
22dwarfism10.0
23x-linked periventricular heterotopia10.0
24colpocephaly10.0
25pachygyria - intellectual deficit - epilepsy10.0
26retinitis10.0DCX
27dementia10.0PVALB, MAP2
28lissencephaly x-linked10.0PAFAH1B1, DCX, ARX
29muscular dystrophy-dystroglycanopathy , type a, 1410.0POMGNT1, POMT1, FKTN
30fukuyama type muscular dystrophy10.0POMGNT1, POMT1, FKTN
31hydrocephalus10.0POMGNT1, FLNA, NES
32limb-girdle muscular dystrophy10.0POMGNT1, FKTN, POMT1
33infantile epileptic encephalopathy10.0ARX, FLNA, PAFAH1B1
34tuberous sclerosis10.0MAP2, DCX, NES
35neurilemmoma10.0CALB2, NES, DCX
36brain ischemia10.0MAP2, NES
37creutzfeldt-jakob syndrome10.0PVALB, NES
38microcephaly10.0ARFGEF2, LOC619409, PAFAH1B1, POMT1
39autistic disorder10.0RELN, ARX
40multiple system atrophy10.0PVALB, MAP2
41medulloblastoma10.0NES, PAFAH1B1, MAP2
42prion disease10.0MAP2, CALB2, PVALB
43cerebellar hypoplasia10.0PAFAH1B1, RELN, DCX
44cadasil10.0PVALB, DCX, MAP2, NES
45intellectual disability10.0FKTN, PAFAH1B1, ARX, DCX, POMT1
46ependymoma10.0DCX, MAP2, NES
47immunodeficiency with hyper igm type 210.0CALB2, MAP2, CALB1, PVALB
48parkinson's disease10.0CALB2, MAP2, CALB1, PVALB
49amyotrophic lateral sclerosis10.0PVALB, CALB2, NES, MAP2
50ischemia10.0EMX2, MAP2, DCX, NES, PVALB

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



Diseases related to neuronal migration disorders

Clinical Features for Neuronal Migration Disorders

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Drugs & Therapeutics for Neuronal Migration Disorders

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Neuronal Migration Disorders

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Anatomical Context for Neuronal Migration Disorders

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32MalaCards
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MalaCards organs/tissues related to Neuronal Migration Disorders:

32
Brain, Cerebellum

Animal Models for Neuronal Migration Disorders or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Neuronal Migration Disorders:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.7ARX, POMT1, POMGNT1, FKTN, RELN, PVALB
2MP:00053898.1ARX, FLNA, DCX, DCLK1, POMGNT1, EMX2
3MP:00053787.7ARX, PAFAH1B1, RELN, FKTN, MAP2, POMGNT1
4MP:00053847.1EMX2, DCLK1, NES, ARFGEF2, ARX, PVALB
5MP:00107686.8FLNA, NES, POMT1, ARFGEF2, ARX, POMGNT1
6MP:00053866.1MAP2, FKTN, RELN, GPR56, PAFAH1B1, PEX2
7MP:00036315.2NES, RELN, YWHAE, GPR56, PAFAH1B1, PEX2

Publications for Neuronal Migration Disorders

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Genetic Variations for Neuronal Migration Disorders

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Expression for genes affiliated with Neuronal Migration Disorders

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neuronal Migration Disorders

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Pathways for genes affiliated with Neuronal Migration Disorders

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37NCBI BioSystems Database, 4Cell Signaling Technology
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Pathways related to Neuronal Migration Disorders according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3PAFAH1B1, YWHAE, RELN, DCX
29.2PAFAH1B1, MAP2, DCX, CALB1

Compounds for genes affiliated with Neuronal Migration Disorders

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44Novoseek, 28IUPHAR, 49PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Neuronal Migration Disorders according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1nmda44 2810.9PVALB, MAP2
2cyanine449.5PVALB, CALB2
3bromodeoxyuridine449.4MAP2, DCX, CALB1, NES
4methamphetamine44 49 1111.3MAP2, PVALB, CALB1
5quinolinic acid44 2410.1CALB1, CALB2, PVALB
6kainate44 2810.1CALB1, NES, MAP2, DCX, PVALB
7silver448.8CALB1, MAP2, CALB2, PVALB
8paraffin448.8NES, CALB2, PVALB, MAP2
9choline44 11 2410.6MAP2, NES, CALB1, CALB2, PVALB
10acetylcholine44 49 28 11 2412.5PVALB, CALB2, CALB1, NES
11dopamine44 28 11 2411.4PVALB, CALB1, MAP2, NES, FLNA, CALB2
12estrogen448.0CALB2, MAP2, CALB1, NES, PAFAH1B1, PVALB
13glutamate448.0PVALB, CALB1, MAP2, RELN, NES, CALB2
14gaba447.9ARFGEF2, ARX, NES, MAP2, RELN, CALB1
15tyrosine447.4RELN, CALB2, MAP2, CALB1, FLNA, NES
16calcium44 49 11 2410.2PAFAH1B1, DCX, CALB1, CALB2, DCLK1, POMT1

GO Terms for genes affiliated with Neuronal Migration Disorders

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16Gene Ontology
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Cellular components related to Neuronal Migration Disorders according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubule associated complexGO:0058759.7PAFAH1B1, MAP2, DCX

Biological processes related to Neuronal Migration Disorders according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1cell proliferation in forebrainGO:02184610.2ARX, EMX2
2cerebral cortex tangential migrationGO:02180010.2ARX, RELN
3layer formation in cerebral cortexGO:02181910.1PAFAH1B1, GPR56
4central nervous system projection neuron axonogenesisGO:02195210.1DCX, DCLK1
5axon extensionGO:0486759.9DCX, DCLK1
6dendrite morphogenesisGO:0488139.9MAP2, DCLK1, DCX
7negative regulation of JNK cascadeGO:0463299.9FKTN, PAFAH1B1
8hippocampus developmentGO:0217669.7RELN, PAFAH1B1, YWHAE
9brain developmentGO:0074209.6DCX, NES, RELN, GPR56
10cellular response to organic substanceGO:0713109.6MAP2, CALB1
11central nervous system developmentGO:0074179.6RELN, DCX, NES, DCLK1
12intracellular signal transductionGO:0355569.5ARFGEF2, DCX, DCLK1, YWHAE
13G2/M transition of mitotic cell cycleGO:0000869.3PAFAH1B1, NES, YWHAE
14neuron migrationGO:0017648.9YWHAE, ARX, DCX, PEX2, PAFAH1B1, DCLK1

Products for genes affiliated with Neuronal Migration Disorders

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Sources for Neuronal Migration Disorders

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet