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

SNOMED-CT ⁶⁷ 204018008

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 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

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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	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:

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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

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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 73)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	13.1	DISEASES inferred ¹⁵ ¹⁵
2	RNU4ATAC	RNA, U4atac Small Nuclear (U12-Dependent Splicing)	RNA Gene	12.21	DISEASES inferred ¹⁵ ¹⁵
3	EPRS1	Glutamyl-Prolyl-TRNA Synthetase 1	Protein Coding	11.28	DISEASES inferred ¹⁵ ¹⁵
4	H2AC18	H2A Clustered Histone 18	Protein Coding	10	DISEASES inferred ¹⁵ ¹⁵
5	PRODH	Proline Dehydrogenase 1	Protein Coding	9.75	DISEASES inferred ¹⁵ ¹⁵
6	PAFAH1B1	Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1	Protein Coding	9.54	DISEASES inferred ¹⁵
7	B3GNT2	UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 2	Protein Coding	9	DISEASES inferred ¹⁵ ¹⁵
8	ASPM	Assembly Factor For Spindle Microtubules	Protein Coding	8.88	DISEASES inferred ¹⁵
9	MIR9-1	MicroRNA 9-1	RNA Gene	8.78	DISEASES inferred ¹⁵ ¹⁵
10	MCPH1	Microcephalin 1	Protein Coding	8.72	DISEASES inferred ¹⁵
11	CDK5RAP2	CDK5 Regulatory Subunit Associated Protein 2	Protein Coding	8.7	DISEASES inferred ¹⁵
12	CENPJ	Centromere Protein J	Protein Coding	8.48	DISEASES inferred ¹⁵
13	WDR62	WD Repeat Domain 62	Protein Coding	8.48	DISEASES inferred ¹⁵
14	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	8.34	DISEASES inferred ¹⁵
15	PAGR1	PAXIP1 Associated Glutamate Rich Protein 1	Protein Coding	8.3	DISEASES inferred ¹⁵ ¹⁵
16	ZIC2	Zic Family Member 2	Protein Coding	8.23	DISEASES inferred ¹⁵
17	FLNA	Filamin A	Protein Coding	8.2	DISEASES inferred ¹⁵
18	DCX	Doublecortin	Protein Coding	8.13	DISEASES inferred ¹⁵
19	SIX3	SIX Homeobox 3	Protein Coding	8.13	DISEASES inferred ¹⁵
20	TUBA1A	Tubulin Alpha 1a	Protein Coding	8.11	DISEASES inferred ¹⁵
21	CEP152	Centrosomal Protein 152	Protein Coding	8.1	DISEASES inferred ¹⁵
22	NDE1	NudE Neurodevelopment Protein 1	Protein Coding	8.07	DISEASES inferred ¹⁵
23	NDEL1	NudE Neurodevelopment Protein 1 Like 1	Protein Coding	8.01	DISEASES inferred ¹⁵
24	STIL	STIL Centriolar Assembly Protein	Protein Coding	7.96	DISEASES inferred ¹⁵
25	CEP135	Centrosomal Protein 135	Protein Coding	7.77	DISEASES inferred ¹⁵
26	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	7.75	DISEASES inferred ¹⁵
27	FOXG1	Forkhead Box G1	Protein Coding	7.75	DISEASES inferred ¹⁵
28	ARFGEF2	ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 2	Protein Coding	7.72	DISEASES inferred ¹⁵
29	PCNT	Pericentrin	Protein Coding	7.59	DISEASES inferred ¹⁵
30	PAX6	Paired Box 6	Protein Coding	7.5	DISEASES inferred ¹⁵
31	ARX	Aristaless Related Homeobox	Protein Coding	7.46	DISEASES inferred ¹⁵
32	CNTLN	Centlein	Protein Coding	7.45	DISEASES inferred ¹⁵
33	RELN	Reelin	Protein Coding	7.43	DISEASES inferred ¹⁵
34	TUBB2B	Tubulin Beta 2B Class IIb	Protein Coding	7.43	DISEASES inferred ¹⁵
35	CEP63	Centrosomal Protein 63	Protein Coding	7.39	DISEASES inferred ¹⁵
36	NHEJ1	Non-Homologous End Joining Factor 1	Protein Coding	7.36	DISEASES inferred ¹⁵
37	TBR1	T-Box Brain Transcription Factor 1	Protein Coding	7.33	DISEASES inferred ¹⁵
38	PNKP	Polynucleotide Kinase 3'-Phosphatase	Protein Coding	7.29	DISEASES inferred ¹⁵
39	CRYAA	Crystallin Alpha A	Protein Coding	7.25	DISEASES inferred ¹⁵ ¹⁵
40	SASS6	SAS-6 Centriolar Assembly Protein	Protein Coding	7.25	DISEASES inferred ¹⁵
41	EOMES	Eomesodermin	Protein Coding	7.23	DISEASES inferred ¹⁵
42	POMT1	Protein O-Mannosyltransferase 1	Protein Coding	7.22	DISEASES inferred ¹⁵
43	POMGNT1	Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)	Protein Coding	7.21	DISEASES inferred ¹⁵
44	CDKL5	Cyclin Dependent Kinase Like 5	Protein Coding	7.19	DISEASES inferred ¹⁵
45	GLI2	GLI Family Zinc Finger 2	Protein Coding	7.13	DISEASES inferred ¹⁵
46	LIG4	DNA Ligase 4	Protein Coding	7.11	DISEASES inferred ¹⁵
47	UBE3A	Ubiquitin Protein Ligase E3A	Protein Coding	7.1	DISEASES inferred ¹⁵
48	EMX1	Empty Spiracles Homeobox 1	Protein Coding	7.05	DISEASES inferred ¹⁵
49	DAG1	Dystroglycan 1	Protein Coding	7.05	DISEASES inferred ¹⁵
50	VLDLR	Very Low Density Lipoprotein Receptor	Protein Coding	7.03	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	Cytoskeletal Signaling ⁴	11.41	TUBA1A PAFAH1B1 FLNA DCX

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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	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

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Sources for Congenital Nervous System Abnormality

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia