MCID: CNG031
MIFTS: 30

Congenital Nervous System Abnormality

Categories: Neuronal diseases, Immune 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 35 742
SNOMED-CT 68 204018008
UMLS 73 C0158538

Summaries for Congenital Nervous System Abnormality

MalaCards based summary : Congenital Nervous System Abnormality, also known as congenital neurologic anomaly, is related to holoprosencephaly and lissencephaly. An important gene associated with Congenital Nervous System Abnormality is RNU4ATAC (RNA, U4atac Small Nuclear (U12-Dependent Splicing)), and among its related pathways/superpathways are Cell Cycle, Mitotic and Regulation of PLK1 Activity at G2/M Transition. Related phenotypes are Reduced mammosphere formation 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

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 31.9 NODAL SHH SIX3 ZIC2
2 lissencephaly 31.9 DCX NDE1 PAFAH1B1 TUBA1A
3 periventricular nodular heterotopia 31.3 DCX FLNA PAFAH1B1 SIX3 TUBA1A TUBA3D
4 chromosome 17p13.3, centromeric, duplication syndrome 11.0 DCX PAFAH1B1
5 corpus callosum, agenesis of, with abnormal genitalia 11.0
6 drachtman weinblatt sitarz syndrome 11.0
7 tubulinopathy-associated dysgyria 10.9 TUBA1A TUBB3
8 acquired schizencephaly 10.9 SHH SIX3
9 anencephaly 10.8
10 band heterotopia 10.8
11 patau syndrome 10.8 NODAL SIX3 ZIC2
12 pachygyria 10.8 PAFAH1B1 TUBA1A WDR62
13 neuronal migration disorders 10.8 DCX PAFAH1B1 WDR62
14 lissencephaly, x-linked, 1 10.7 DCX PAFAH1B1
15 microcephalic osteodysplastic primordial dwarfism, type ii 10.7 CDK5RAP2 CENPJ CEP63
16 septopreoptic holoprosencephaly 10.7 NODAL SHH SIX3 ZIC2
17 midline interhemispheric variant of holoprosencephaly 10.7 NODAL SHH SIX3 ZIC2
18 schizencephaly 10.7 SHH SIX3 WDR62
19 alobar holoprosencephaly 10.7 NODAL SHH SIX3 ZIC2
20 microcephalic osteodysplastic primordial dwarfism, type i 10.7 NDE1 RNU4ATAC
21 lobar holoprosencephaly 10.7 NODAL SHH SIX3 ZIC2
22 chromosome 18p deletion syndrome 10.7 NODAL SHH SIX3 ZIC2
23 microform holoprosencephaly 10.6 NODAL SHH SIX3 ZIC2
24 microlissencephaly 10.6 NDE1 TUBA1A
25 semilobar holoprosencephaly 10.6 NODAL SHH SIX3 ZIC2
26 agnathia-otocephaly complex 10.6 DCX NODAL SHH
27 seckel syndrome 10.6 CENPJ CEP63 MCPH1 RNU4ATAC
28 holoprosencephaly 4 10.6 SHH ZIC2
29 miller-dieker lissencephaly syndrome 10.5 NDEL1 PAFAH1B1 TUBA1A
30 lissencephaly with cerebellar hypoplasia 10.4 DCX PAFAH1B1
31 autosomal recessive primary microcephaly 10.4 ASPM CDK5RAP2 CENPJ MCPH1 WDR62
32 trehalase deficiency 10.2 ASPM CEP63 PAFAH1B1 TUBA1A TUBB3 WDR62
33 hydranencephaly 10.1 NDE1 TUBA1A
34 microcephaly 9.4 ASPM CDK5RAP2 CENPJ CEP63 IER3IP1 MCPH1
35 physical disorder 7.7 ASPM CDK5RAP2 CENPJ CEP63 DCX FLNA

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 FLNA NDE1 NDEL1 NODAL PAFAH1B1 SHH

MGI Mouse Phenotypes related to Congenital Nervous System Abnormality:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.35 SHH TUBA1A TUBB3 WDR62 ZIC2 ASPM
2 growth/size/body region MP:0005378 10.25 ASPM CDK5RAP2 CENPJ CEP63 DCX FLNA
3 nervous system MP:0003631 10.25 ASPM CDK5RAP2 CENPJ CEP63 DCX FLNA
4 mortality/aging MP:0010768 10.15 CDK5RAP2 CENPJ DCX FLNA MCPH1 NDEL1
5 embryo MP:0005380 10.03 CENPJ NDE1 NDEL1 NODAL PAFAH1B1 SHH
6 craniofacial MP:0005382 10 CDK5RAP2 CENPJ FLNA NODAL SHH SIX3
7 reproductive system MP:0005389 10 ASPM CDK5RAP2 CENPJ CEP63 DCX FLNA
8 skeleton MP:0005390 9.76 CDK5RAP2 CENPJ FLNA MCPH1 NODAL SHH
9 taste/olfaction MP:0005394 9.26 CENPJ NODAL SHH SIX3
10 vision/eye MP:0005391 9.23 CDK5RAP2 CENPJ FLNA MCPH1 NODAL SHH

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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.02 CDK5RAP2 CENPJ CEP63 MCPH1 NDE1 NDEL1
2
Show member pathways
12.92 CDK5RAP2 CENPJ CEP63 NDE1 PAFAH1B1 TUBA1A
3
Show member pathways
12.16 CDK5RAP2 CENPJ CEP63 NDE1 PAFAH1B1 TUBA1A
4 12.04 DCX FLNA PAFAH1B1 TUBA1A TUBB3
5
Show member pathways
11.84 FLNA TUBA1A TUBA3D TUBB3
6
Show member pathways
11.76 TUBA1A TUBA3D TUBB3
7
Show member pathways
11.69 TUBA1A TUBA3D TUBB3
8 11.59 TUBA1A TUBA3D TUBB3
9 11.52 TUBA1A TUBA3D TUBB3
10 10.32 NODAL SHH
11 10.29 DCX NDEL1 PAFAH1B1

GO Terms for Congenital Nervous System Abnormality

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.86 ASPM CDK5RAP2 CENPJ CEP63 NDE1 NDEL1
2 spindle GO:0005819 9.78 ASPM NDE1 NDEL1 PAFAH1B1
3 microtubule organizing center GO:0005815 9.76 CDK5RAP2 CENPJ CEP63 MCPH1 NDE1 NDEL1
4 microtubule cytoskeleton GO:0015630 9.73 PAFAH1B1 TUBA1A TUBA3D TUBB3
5 centriole GO:0005814 9.7 CENPJ CEP63 WDR62
6 kinetochore GO:0000776 9.69 NDE1 NDEL1 PAFAH1B1
7 spindle pole GO:0000922 9.67 CDK5RAP2 CEP63 WDR62
8 microtubule GO:0005874 9.65 ASPM CDK5RAP2 CENPJ DCX NDE1 NDEL1
9 kinesin complex GO:0005871 9.63 NDE1 NDEL1 PAFAH1B1
10 microtubule associated complex GO:0005875 9.5 DCX NDEL1 PAFAH1B1
11 cytoskeleton GO:0005856 9.47 ASPM CDK5RAP2 CENPJ CEP63 DCX FLNA
12 central region of growth cone GO:0090724 9.37 NDEL1 PAFAH1B1
13 cytoplasm GO:0005737 10.28 ASPM CDK5RAP2 CENPJ CEP63 DCX FLNA

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

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 cell migration GO:0016477 9.93 NDE1 NDEL1 NODAL PAFAH1B1
2 brain development GO:0007420 9.91 ASPM CDK5RAP2 DCX NODAL PAFAH1B1 SIX3
3 neuron migration GO:0001764 9.88 ASPM DCX NDE1 NDEL1 PAFAH1B1
4 G2/M transition of mitotic cell cycle GO:0000086 9.88 CDK5RAP2 CENPJ CEP63 NDE1 PAFAH1B1 TUBA1A
5 mitotic cell cycle GO:0000278 9.85 TUBA1A TUBA3D TUBB3
6 sister chromatid cohesion GO:0007062 9.83 NDE1 NDEL1 PAFAH1B1
7 chromosome segregation GO:0007059 9.81 CDK5RAP2 NDE1 NDEL1
8 negative regulation of neuron differentiation GO:0045665 9.8 ASPM CDK5RAP2 SIX3
9 microtubule-based process GO:0007017 9.8 PAFAH1B1 TUBA1A TUBA3D TUBB3
10 microtubule cytoskeleton organization GO:0000226 9.8 CDK5RAP2 NDEL1 PAFAH1B1 TUBA1A TUBA3D TUBB3
11 neuroblast proliferation GO:0007405 9.73 NDE1 PAFAH1B1 SHH
12 centriole replication GO:0007099 9.73 CDK5RAP2 CENPJ CEP63 WDR62
13 ciliary basal body-plasma membrane docking GO:0097711 9.73 CDK5RAP2 CENPJ CEP63 NDE1 PAFAH1B1 TUBA1A
14 microtubule nucleation GO:0007020 9.72 CENPJ NDE1 NDEL1
15 vesicle transport along microtubule GO:0047496 9.71 NDE1 NDEL1 PAFAH1B1
16 microtubule organizing center organization GO:0031023 9.69 CDK5RAP2 NDE1 PAFAH1B1
17 anatomical structure formation involved in morphogenesis GO:0048646 9.67 NODAL SHH
18 neuronal stem cell population maintenance GO:0097150 9.67 ASPM MCPH1
19 positive regulation of neuroblast proliferation GO:0002052 9.66 ASPM SHH
20 centrosome duplication GO:0051298 9.66 CENPJ NDE1
21 centrosome localization GO:0051642 9.65 NDE1 NDEL1
22 digestive tract morphogenesis GO:0048546 9.65 NODAL SHH
23 layer formation in cerebral cortex GO:0021819 9.64 DCX PAFAH1B1
24 retrograde axonal transport GO:0008090 9.63 NDEL1 PAFAH1B1
25 regulation of microtubule motor activity GO:2000574 9.63 NDE1 NDEL1 PAFAH1B1
26 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.63 CDK5RAP2 CENPJ CEP63 NDE1 PAFAH1B1 TUBA1A
27 telencephalon regionalization GO:0021978 9.62 SHH SIX3
28 mitotic centrosome separation GO:0007100 9.61 NDE1 NDEL1
29 maintenance of centrosome location GO:0051661 9.61 ASPM PAFAH1B1
30 nuclear envelope disassembly GO:0051081 9.6 NDEL1 PAFAH1B1
31 formation of anatomical boundary GO:0048859 9.59 NODAL SHH
32 establishment of chromosome localization GO:0051303 9.58 NDE1 NDEL1
33 cerebral cortex development GO:0021987 9.43 ASPM FLNA MCPH1 NDE1 PAFAH1B1 WDR62
34 establishment of mitotic spindle orientation GO:0000132 9.02 CDK5RAP2 MCPH1 NDE1 NDEL1 PAFAH1B1
35 multicellular organism development GO:0007275 10.19 DCX NDE1 NDEL1 NODAL PAFAH1B1 SHH
36 nervous system development GO:0007399 10.07 DCX NDE1 NDEL1 NODAL PAFAH1B1 WDR62
37 cell division GO:0051301 10.04 ASPM CENPJ CEP63 NDE1 PAFAH1B1 TUBA1A

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.33 TUBA1A TUBA3D TUBB3
2 microtubule binding GO:0008017 9.02 CDK5RAP2 DCX NDE1 NDEL1 PAFAH1B1
3 morphogen activity GO:0016015 8.96 NODAL SHH

Sources for Congenital Nervous System Abnormality

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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