MCID: CNG031
MIFTS: 24

Congenital Nervous System Abnormality

Categories: Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Nervous System Abnormality

MalaCards integrated aliases for Congenital Nervous System Abnormality:

Name: Congenital Nervous System Abnormality 12 15
Congenital Neurologic Anomaly 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2490
ICD9CM 34 742
UMLS 71 C0158538

Summaries for Congenital Nervous System Abnormality

MalaCards based summary : Congenital Nervous System Abnormality, also known as congenital neurologic anomaly, is related to lissencephaly and periventricular nodular heterotopia. An important gene associated with Congenital Nervous System Abnormality is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are Cell Cycle, Mitotic and Regulation of PLK1 Activity at G2/M Transition. Related phenotypes are cellular and growth/size/body region

Related Diseases for Congenital Nervous System Abnormality

Diseases in the Nervous System Disease family:

Autoimmune Disease of Central Nervous System Congenital Nervous System Abnormality
Central Nervous System Disease Infectious Disease of the Nervous System

Diseases related to Congenital Nervous System Abnormality via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 32.6 WDR62 TUBA1A PAFAH1B1 NDE1 DCX CENPJ
2 periventricular nodular heterotopia 32.5 WDR62 TUBA1A PRODH PAFAH1B1 NDE1 MCPH1
3 microcephaly 32.1 ZIC2 WDR62 TUBA1A SHH RNU4ATAC PRODH
4 drachtman weinblatt sitarz syndrome 11.6
5 corpus callosum, agenesis of, with abnormal genitalia 11.3
6 anencephaly 11.1
7 holoprosencephaly 11.1
8 epilepsy, familial temporal lobe, 1 10.8 H2AC18 ERCC6 EPRS1
9 robinow syndrome, autosomal recessive 1 10.8 H2AC18 ERCC6 EPRS1
10 robinow syndrome 10.8 H2AC18 ERCC6 EPRS1
11 hypomyelinating leukodystrophy 10.8 PRODH H2AC18 ERCC6 EPRS1
12 microcephaly 13, primary, autosomal recessive 10.7 WDR62 MCPH1 CEP152
13 heart septal defect 10.7 RNU4ATAC PRODH PAGR1 H2AC18
14 microcephaly 14, primary, autosomal recessive 10.7 WDR62 MCPH1 CEP152
15 x-linked recessive disease 10.7 PRODH H2AC18 ERCC6 EPRS1
16 eye degenerative disease 10.7 RNU4ATAC PRODH H2AC18 ERCC6 EPRS1
17 seckel syndrome 2 10.7 CEP152 CENPJ CDK5RAP2
18 fetal alcohol spectrum disorder 10.7 SHH MIR9-1 H2AC18
19 seckel syndrome 5 10.7 MCPH1 CEP152 CENPJ
20 lissencephaly 2 10.7 WDR62 TUBA1A RNU4ATAC PAFAH1B1
21 fetal alcohol syndrome 10.7 SHH MIR9-1 H2AC18
22 chromosome 16p13.3 deletion syndrome, proximal 10.7 PAGR1 MIR9-1 H2AC18
23 chromosomal disease 10.7 PRODH MIR9-1 H2AC18 EPRS1
24 x-linked monogenic disease 10.7 PRODH MIR9-1 H2AC18 ERCC6 EPRS1
25 spinal disease 10.7 RNU4ATAC PRODH MIR9-1 H2AC18
26 speech disorder 10.7 PRODH H2AC18 EPRS1
27 inherited metabolic disorder 10.7 PRODH MIR9-1 H2AC18 ERCC6 EPRS1
28 disorders of sexual development 10.7 H2AC18 ERCC6 EPRS1
29 amelogenesis imperfecta, type ig 10.7 PAGR1 MIR9-1 H2AC18
30 teeth hard tissue disease 10.7 PAGR1 H2AC18 ERCC6
31 peripheral nervous system disease 10.7 RNU4ATAC PRODH H2AC18 ERCC6 EPRS1
32 microcephaly 18, primary, autosomal dominant 10.7 MCPH1 CEP152 CENPJ ASPM
33 amino acid metabolic disorder 10.7 PRODH H2AC18 EPRS1
34 stomach disease 10.7 PRODH H2AC18 ERCC6
35 endocrine system disease 10.7 RNU4ATAC PRODH MIR9-1 H2AC18 EPRS1
36 immune system disease 10.7 PRODH MIR9-1 H2AC18 ERCC6 EPRS1
37 microcephaly 1, primary, autosomal recessive 10.7 MCPH1 CEP152 CENPJ ASPM
38 germ cell and embryonal cancer 10.7 PRODH MIR9-1 H2AC18
39 neuronal migration disorders 10.7 WDR62 TUBA1A PAFAH1B1 DCX
40 pelizaeus-merzbacher disease 10.7 PRODH H2AC18 ERCC6
41 pachygyria 10.7 TUBA1A PAFAH1B1
42 glucose metabolism disease 10.7 PRODH MIR9-1 H2AC18 EPRS1
43 fragile x syndrome 10.7 PRODH MIR9-1 H2AC18 ERCC6
44 respiratory system disease 10.7 PRODH MIR9-1 H2AC18 ERCC6 EPRS1
45 auditory system disease 10.7 PRODH ERCC6 EPRS1
46 central nervous system disease 10.7 PRODH MIR9-1 H2AC18 ERCC6 EPRS1
47 meier-gorlin syndrome 1 10.7 RNU4ATAC H2AC18 CEP152 CENPJ
48 acquired metabolic disease 10.7 PRODH MIR9-1 H2AC18 EPRS1
49 angelman syndrome 10.7 PRODH PAGR1 H2AC18 EPRS1 ASPM
50 disease of mental health 10.7 RNU4ATAC PRODH MIR9-1 H2AC18 ERCC6 EPRS1

Graphical network of the top 20 diseases related to Congenital Nervous System Abnormality:



Diseases related to Congenital Nervous System Abnormality

Symptoms & Phenotypes for Congenital Nervous System Abnormality

MGI Mouse Phenotypes related to Congenital Nervous System Abnormality:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 ASPM B3GNT2 CDK5RAP2 CENPJ CEP152 EPRS1
2 growth/size/body region MP:0005378 9.83 ASPM B3GNT2 CDK5RAP2 CENPJ DCX EPRS1
3 nervous system MP:0003631 9.53 ASPM B3GNT2 CDK5RAP2 CENPJ CEP152 DCX

Drugs & Therapeutics for Congenital Nervous System Abnormality

Search Clinical Trials , NIH Clinical Center for Congenital Nervous System Abnormality

Genetic Tests for Congenital Nervous System Abnormality

Anatomical Context for Congenital Nervous System Abnormality

Publications for Congenital Nervous System Abnormality

Variations for Congenital Nervous System Abnormality

Expression for Congenital Nervous System Abnormality

Search GEO for disease gene expression data for Congenital Nervous System Abnormality.

Pathways for Congenital Nervous System Abnormality

GO Terms for Congenital Nervous System Abnormality

Cellular components related to Congenital Nervous System Abnormality according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.85 WDR62 TUBA1A PAFAH1B1 NDE1 MCPH1 DCX
2 centrosome GO:0005813 9.8 WDR62 PAFAH1B1 NDE1 CEP152 CENPJ CDK5RAP2
3 microtubule organizing center GO:0005815 9.5 WDR62 PAFAH1B1 NDE1 MCPH1 CEP152 CENPJ
4 microtubule GO:0005874 9.17 TUBA1A PAFAH1B1 NDE1 DCX CENPJ CDK5RAP2

Biological processes related to Congenital Nervous System Abnormality according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.99 ZIC2 WDR62 PAFAH1B1 NDE1 ERCC6 DCX
2 cell division GO:0051301 9.95 TUBA1A PAFAH1B1 NDE1 CENPJ ASPM
3 brain development GO:0007420 9.88 ZIC2 PAFAH1B1 DCX CDK5RAP2 ASPM
4 neuron migration GO:0001764 9.8 PAFAH1B1 NDE1 DCX ASPM
5 neurogenesis GO:0022008 9.73 WDR62 ERCC6 CDK5RAP2
6 cerebral cortex development GO:0021987 9.72 WDR62 PAFAH1B1 NDE1 MCPH1 ASPM
7 establishment of mitotic spindle orientation GO:0000132 9.67 PAFAH1B1 NDE1 MCPH1 CDK5RAP2
8 neuroblast proliferation GO:0007405 9.63 SHH PAFAH1B1 NDE1
9 G2/M transition of mitotic cell cycle GO:0000086 9.63 TUBA1A PAFAH1B1 NDE1 CEP152 CENPJ CDK5RAP2
10 centrosome duplication GO:0051298 9.61 NDE1 CEP152 CENPJ
11 microtubule nucleation GO:0007020 9.58 NDE1 CENPJ
12 vesicle transport along microtubule GO:0047496 9.58 PAFAH1B1 NDE1
13 microtubule organizing center organization GO:0031023 9.58 PAFAH1B1 NDE1 CDK5RAP2
14 layer formation in cerebral cortex GO:0021819 9.57 PAFAH1B1 DCX
15 centriole replication GO:0007099 9.56 WDR62 CEP152 CENPJ CDK5RAP2
16 regulation of microtubule motor activity GO:2000574 9.54 PAFAH1B1 NDE1
17 maintenance of centrosome location GO:0051661 9.52 PAFAH1B1 ASPM
18 ciliary basal body-plasma membrane docking GO:0097711 9.43 TUBA1A PAFAH1B1 NDE1 CEP152 CENPJ CDK5RAP2
19 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.1 TUBA1A PAFAH1B1 NDE1 CEP152 CENPJ CDK5RAP2

Molecular functions related to Congenital Nervous System Abnormality according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.92 PAFAH1B1 NDE1 DCX CDK5RAP2

Sources for Congenital Nervous System Abnormality

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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