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
SNOMED-CT 67 204018008
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 band 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 is Cytoskeletal Signaling. Related phenotypes are growth/size/body region and cellular

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 Autoimmune Disease of the Nervous System
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 133)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 32.5 WDR62 TUBA1A PAFAH1B1 DCX CENPJ
2 band heterotopia 32.3 WDR62 TUBA1A PAFAH1B1 MCPH1 FLNA DCX
3 periventricular nodular heterotopia 32.3 WDR62 TUBA1A PRODH PAFAH1B1 MCPH1 FLNA
4 microcephaly 32.2 ZIC2 WDR62 TUBA1A SHH RNU4ATAC MCPH1
5 anencephaly 11.1
6 holoprosencephaly 11.1
7 microcephaly 18, primary, autosomal dominant 10.6 MCPH1 CENPJ ASPM
8 lissencephaly 2 10.6 TUBA1A RNU4ATAC PAFAH1B1
9 hypomyelinating leukodystrophy 10.6 PRODH H2AC18 ERCC6 EPRS1
10 seckel syndrome 2 10.6 MCPH1 CENPJ CDK5RAP2
11 pachygyria 10.6 TUBA1A PAFAH1B1 DCX
12 heart septal defect 10.6 RNU4ATAC PRODH PAGR1 H2AC18
13 eye degenerative disease 10.6 RNU4ATAC PRODH H2AC18 ERCC6 EPRS1
14 microcephaly 1, primary, autosomal recessive 10.6 MCPH1 CENPJ ASPM
15 seckel syndrome 4 10.6 MCPH1 CENPJ CDK5RAP2 ASPM
16 midline interhemispheric variant of holoprosencephaly 10.6 ZIC2 SIX3 SHH
17 septopreoptic holoprosencephaly 10.6 ZIC2 SIX3 SHH
18 microcephaly 8, primary, autosomal recessive 10.5 WDR62 MCPH1 CENPJ CDK5RAP2
19 holoprosencephaly 9 10.5 ZIC2 SIX3 SHH
20 microcephaly 12, primary, autosomal recessive 10.5 WDR62 MCPH1 CENPJ CDK5RAP2
21 x-linked monogenic disease 10.5 PRODH MIR9-1 H2AC18 ERCC6 EPRS1
22 x-linked recessive disease 10.5 PRODH H2AC18 ERCC6 EPRS1
23 corpus callosum lipoma 10.5 ZIC2 SIX3 SHH
24 microcephaly 9, primary, autosomal recessive 10.5 WDR62 MCPH1 CENPJ CDK5RAP2
25 cerebral hemisphere lipoma 10.5 ZIC2 SIX3 SHH
26 holoprosencephaly 2 10.5 ZIC2 SIX3 SHH
27 integumentary system disease 10.5 PRODH MIR9-1 H2AC18 ERCC6 EPRS1
28 holoprosencephaly 4 10.5 ZIC2 SIX3 SHH
29 microcephaly 11, primary, autosomal recessive 10.5 WDR62 PAGR1 MCPH1 CENPJ
30 alobar holoprosencephaly 10.5 ZIC2 SIX3 SHH
31 isolated growth hormone deficiency 10.5 WDR62 RNU4ATAC H2AC18 CENPJ CDK5RAP2
32 lobar holoprosencephaly 10.5 ZIC2 SIX3 SHH
33 culler-jones syndrome 10.5 ZIC2 SIX3 SHH
34 chromosomal duplication syndrome 10.5 SHH PRODH MIR9-1 H2AC18 EPRS1
35 microcephalic osteodysplastic primordial dwarfism, type ii 10.5 RNU4ATAC MCPH1 CENPJ CDK5RAP2 ASPM
36 chromosomal deletion syndrome 10.5 PRODH PAGR1 MIR9-1 H2AC18
37 holoprosencephaly 1 10.5 ZIC2 SIX3 SHH
38 holoprosencephaly 11 10.5 ZIC2 SIX3 SHH
39 central nervous system lipoma 10.5 ZIC2 SIX3
40 neuronal migration disorders 10.5 WDR62 TUBA1A PAFAH1B1 DCX
41 chromosomal disease 10.5 SHH PRODH MIR9-1 H2AC18 EPRS1
42 muscle tissue disease 10.5 RNU4ATAC MIR9-1 H2AC18 ERCC6 EPRS1 B3GNT2
43 fetal alcohol spectrum disorder 10.5 SHH MIR9-1 H2AC18
44 pervasive developmental disorder 10.5 PRODH PAGR1 MIR9-1 H2AC18 EPRS1
45 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5 RNU4ATAC PRODH MIR9-1 H2AC18 ERCC6 EPRS1
46 movement disease 10.5 PRODH MIR9-1 H2AC18 ERCC6
47 robinow syndrome, autosomal recessive 1 10.5 H2AC18 ERCC6 EPRS1
48 microform holoprosencephaly 10.5 ZIC2 SIX3 SHH
49 microcephaly 17, primary, autosomal recessive 10.5 WDR62 MCPH1 CENPJ CDK5RAP2 ASPM
50 microcephaly 6, primary, autosomal recessive 10.5 WDR62 MCPH1 CENPJ CDK5RAP2 ASPM

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.3 ASPM B3GNT2 CDK5RAP2 CENPJ DCX EPRS1
2 cellular MP:0005384 10.28 ASPM B3GNT2 CDK5RAP2 CENPJ EPRS1 ERCC6
3 nervous system MP:0003631 10.22 ASPM B3GNT2 CDK5RAP2 CENPJ DCX ERCC6
4 craniofacial MP:0005382 9.95 B3GNT2 CDK5RAP2 CENPJ FLNA SHH SIX3
5 respiratory system MP:0005388 9.86 B3GNT2 EPRS1 FLNA PRODH SHH SIX3
6 skeleton MP:0005390 9.85 CDK5RAP2 CENPJ EPRS1 ERCC6 FLNA MCPH1
7 vision/eye MP:0005391 9.28 CDK5RAP2 CENPJ ERCC6 FLNA MCPH1 SHH
8 taste/olfaction MP:0005394 9.26 B3GNT2 CENPJ SHH SIX3

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

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

# Super pathways Score Top Affiliating Genes
1 11.41 TUBA1A PAFAH1B1 FLNA DCX

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 centrosome GO:0005813 9.65 WDR62 PAFAH1B1 CENPJ CDK5RAP2 ASPM
2 cytoskeleton GO:0005856 9.61 WDR62 TUBA1A PAFAH1B1 MCPH1 FLNA DCX
3 microtubule organizing center GO:0005815 9.55 WDR62 PAFAH1B1 MCPH1 CENPJ CDK5RAP2
4 microtubule GO:0005874 9.1 TUBA1A PAFAH1B1 DCX CENPJ CDK5RAP2 ASPM

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.92 ZIC2 WDR62 PAFAH1B1 ERCC6 DCX
2 neuron migration GO:0001764 9.73 PAFAH1B1 DCX ASPM
3 G2/M transition of mitotic cell cycle GO:0000086 9.71 TUBA1A PAFAH1B1 CENPJ CDK5RAP2
4 negative regulation of neuron differentiation GO:0045665 9.65 SIX3 CDK5RAP2 ASPM
5 neurogenesis GO:0022008 9.63 WDR62 ERCC6 CDK5RAP2
6 ciliary basal body-plasma membrane docking GO:0097711 9.62 TUBA1A PAFAH1B1 CENPJ CDK5RAP2
7 neuroblast proliferation GO:0007405 9.55 SHH PAFAH1B1
8 layer formation in cerebral cortex GO:0021819 9.54 PAFAH1B1 DCX
9 establishment of mitotic spindle orientation GO:0000132 9.54 PAFAH1B1 MCPH1 CDK5RAP2
10 microtubule organizing center organization GO:0031023 9.51 PAFAH1B1 CDK5RAP2
11 telencephalon regionalization GO:0021978 9.49 SIX3 SHH
12 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.46 TUBA1A PAFAH1B1 CENPJ CDK5RAP2
13 maintenance of centrosome location GO:0051661 9.43 PAFAH1B1 ASPM
14 centriole replication GO:0007099 9.43 WDR62 CENPJ CDK5RAP2
15 brain development GO:0007420 9.43 ZIC2 SIX3 PAFAH1B1 DCX CDK5RAP2 ASPM
16 cerebral cortex development GO:0021987 9.02 WDR62 PAFAH1B1 MCPH1 FLNA ASPM

Sources for Congenital Nervous System Abnormality

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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