Congenital Nervous System Abnormality disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CNG031 MIFTS: 24	Congenital Nervous System Abnormality Categories: Immune diseases, Neuronal diseases, Rare diseases
Genes Related diseases Pathways Expand all tables

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:2490

ICD9CM ³⁴ 742

UMLS ⁷¹ C0158538

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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

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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:

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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

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Drugs & Therapeutics for Congenital Nervous System Abnormality

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

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Genetic Tests for Congenital Nervous System Abnormality

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Anatomical Context for Congenital Nervous System Abnormality

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Publications for Congenital Nervous System Abnormality

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Genes for Congenital Nervous System Abnormality

Genes related to Congenital Nervous System Abnormality (0 elite genes):

(show top 50) (show all 75)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	13.07	DISEASES inferred ¹⁵ ¹⁵
2	RNU4ATAC	RNA, U4atac Small Nuclear (U12-Dependent Splicing)	RNA Gene	11.99	DISEASES inferred ¹⁵ ¹⁵
3	EPRS1	Glutamyl-Prolyl-TRNA Synthetase 1	Protein Coding	11.09	DISEASES inferred ¹⁵ ¹⁵
4	PRODH	Proline Dehydrogenase 1	Protein Coding	9.7	DISEASES inferred ¹⁵ ¹⁵
5	H2AC18	H2A Clustered Histone 18	Protein Coding	9.64	DISEASES inferred ¹⁵ ¹⁵
6	PAFAH1B1	Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1	Protein Coding	9.56	DISEASES inferred ¹⁵
7	B3GNT2	UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 2	Protein Coding	9.06	DISEASES inferred ¹⁵ ¹⁵
8	ASPM	Assembly Factor For Spindle Microtubules	Protein Coding	8.92	DISEASES inferred ¹⁵
9	MIR9-1	MicroRNA 9-1	RNA Gene	8.88	DISEASES inferred ¹⁵ ¹⁵
10	MCPH1	Microcephalin 1	Protein Coding	8.76	DISEASES inferred ¹⁵
11	CDK5RAP2	CDK5 Regulatory Subunit Associated Protein 2	Protein Coding	8.69	DISEASES inferred ¹⁵
12	WDR62	WD Repeat Domain 62	Protein Coding	8.49	DISEASES inferred ¹⁵
13	CENPJ	Centromere Protein J	Protein Coding	8.39	DISEASES inferred ¹⁵
14	PAGR1	PAXIP1 Associated Glutamate Rich Protein 1	Protein Coding	8.38	DISEASES inferred ¹⁵ ¹⁵
15	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	8.37	DISEASES inferred ¹⁵
16	DCX	Doublecortin	Protein Coding	8.37	DISEASES inferred ¹⁵
17	ZIC2	Zic Family Member 2	Protein Coding	8.25	DISEASES inferred ¹⁵
18	CEP152	Centrosomal Protein 152	Protein Coding	8.12	DISEASES inferred ¹⁵
19	TUBA1A	Tubulin Alpha 1a	Protein Coding	8.11	DISEASES inferred ¹⁵
20	NDE1	NudE Neurodevelopment Protein 1	Protein Coding	8.07	DISEASES inferred ¹⁵
21	SIX3	SIX Homeobox 3	Protein Coding	8	DISEASES inferred ¹⁵
22	NDEL1	NudE Neurodevelopment Protein 1 Like 1	Protein Coding	7.99	DISEASES inferred ¹⁵
23	RELN	Reelin	Protein Coding	7.88	DISEASES inferred ¹⁵
24	STIL	STIL Centriolar Assembly Protein	Protein Coding	7.86	DISEASES inferred ¹⁵
25	FLNA	Filamin A	Protein Coding	7.78	DISEASES inferred ¹⁵
26	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	7.77	DISEASES inferred ¹⁵
27	CEP135	Centrosomal Protein 135	Protein Coding	7.76	DISEASES inferred ¹⁵
28	ARFGEF2	ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 2	Protein Coding	7.75	DISEASES inferred ¹⁵
29	FOXG1	Forkhead Box G1	Protein Coding	7.72	DISEASES inferred ¹⁵
30	POMGNT1	Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)	Protein Coding	7.58	DISEASES inferred ¹⁵
31	PAX6	Paired Box 6	Protein Coding	7.53	DISEASES inferred ¹⁵
32	CNTLN	Centlein	Protein Coding	7.52	DISEASES inferred ¹⁵
33	PCNT	Pericentrin	Protein Coding	7.43	DISEASES inferred ¹⁵
34	TUBB2B	Tubulin Beta 2B Class IIb	Protein Coding	7.42	DISEASES inferred ¹⁵
35	CEP63	Centrosomal Protein 63	Protein Coding	7.4	DISEASES inferred ¹⁵
36	NHEJ1	Non-Homologous End Joining Factor 1	Protein Coding	7.38	DISEASES inferred ¹⁵
37	PNKP	Polynucleotide Kinase 3'-Phosphatase	Protein Coding	7.38	DISEASES inferred ¹⁵
38	ARX	Aristaless Related Homeobox	Protein Coding	7.37	DISEASES inferred ¹⁵
39	TBR1	T-Box Brain Transcription Factor 1	Protein Coding	7.33	DISEASES inferred ¹⁵
40	FKTN	Fukutin	Protein Coding	7.32	DISEASES inferred ¹⁵
41	CRYAA	Crystallin Alpha A	Protein Coding	7.32	DISEASES inferred ¹⁵ ¹⁵
42	POMT1	Protein O-Mannosyltransferase 1	Protein Coding	7.27	DISEASES inferred ¹⁵
43	EOMES	Eomesodermin	Protein Coding	7.26	DISEASES inferred ¹⁵
44	CDKL5	Cyclin Dependent Kinase Like 5	Protein Coding	7.21	DISEASES inferred ¹⁵
45	GLI2	GLI Family Zinc Finger 2	Protein Coding	7.16	DISEASES inferred ¹⁵
46	SASS6	SAS-6 Centriolar Assembly Protein	Protein Coding	7.14	DISEASES inferred ¹⁵
47	UBE3A	Ubiquitin Protein Ligase E3A	Protein Coding	7.12	DISEASES inferred ¹⁵
48	EMX1	Empty Spiracles Homeobox 1	Protein Coding	7.09	DISEASES inferred ¹⁵
49	DAG1	Dystroglycan 1	Protein Coding	7.08	DISEASES inferred ¹⁵
50	NBN	Nibrin	Protein Coding	7.08	DISEASES inferred ¹⁵

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Variations for Congenital Nervous System Abnormality

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Expression for Congenital Nervous System Abnormality

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

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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	Cell Cycle, Mitotic ⁶⁵ Show member pathways Cell Cycle ⁶⁵ M Phase ⁶⁵	12.72	TUBA1A PAFAH1B1 NDE1 MCPH1 H2AC18 CEP152
2	Regulation of PLK1 Activity at G2/M Transition ⁶⁵ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁵ AURKA Activation by TPX2 ⁶⁵ Centrosome maturation ⁶⁵ G2/M Transition ⁶⁵ Interaction between PHLDA1 and AURKA ⁶⁵ Loss of Nlp from mitotic centrosomes ⁶⁵ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁵ Mitotic G2-G2/M phases ⁶⁵ Polo-like kinase mediated events ⁶⁵ Recruitment of mitotic centrosome proteins and complexes ⁶⁵ Recruitment of NuMA to mitotic centrosomes ⁶⁵	12.62	TUBA1A PAFAH1B1 NDE1 CEP152 CENPJ CDK5RAP2
3	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	11.83	TUBA1A PAFAH1B1 NDE1 CEP152 CENPJ CDK5RAP2

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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

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Sources for Congenital Nervous System Abnormality

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