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

MCID: CNG031 MIFTS: 30	Congenital Nervous System Abnormality Categories: Neuronal diseases, Immune diseases
Genes Related diseases Pathways Download 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:
Anatomical: Neuronal diseases Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:2490

ICD9CM ³⁵ 742

SNOMED-CT ⁶⁸ 204018008

UMLS ⁷³ 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 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

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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

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:

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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

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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 all 33)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	RNU4ATAC	RNA, U4atac Small Nuclear (U12-Dependent Splicing)	RNA Gene	21.17	DISEASES inferred ¹⁵ ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
2	TUBB3	Tubulin Beta 3 Class III	Protein Coding	20.46	DISEASES inferred ¹⁵ ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	PAFAH1B1	Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1	Protein Coding	19.73	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	SIX3	SIX Homeobox 3	Protein Coding	18.64	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	CEP63	Centrosomal Protein 63	Protein Coding	18.44	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	MCPH1	Microcephalin 1	Protein Coding	18.42	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	ZIC2	Zic Family Member 2	Protein Coding	18.39	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	WDR62	WD Repeat Domain 62	Protein Coding	18.27	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	NODAL	Nodal Growth Differentiation Factor	Protein Coding	18.13	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	CDK5RAP2	CDK5 Regulatory Subunit Associated Protein 2	Protein Coding	18.09	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	SHH	Sonic Hedgehog	Protein Coding	18.06	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	ASPM	Abnormal Spindle Microtubule Assembly	Protein Coding	18.05	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
13	NDE1	NudE Neurodevelopment Protein 1	Protein Coding	18.03	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
14	TUBA1A	Tubulin Alpha 1a	Protein Coding	18.02	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
15	IER3IP1	Immediate Early Response 3 Interacting Protein 1	Protein Coding	18.01	DISEASES inferred ¹⁵ ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
16	DCX	Doublecortin	Protein Coding	17.96	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
17	CENPJ	Centromere Protein J	Protein Coding	17.54	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
18	FLNA	Filamin A	Protein Coding	17.52	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
19	TUBA3D	Tubulin Alpha 3d	Protein Coding	8	DISEASES inferred ¹⁵
20	NDEL1	NudE Neurodevelopment Protein 1 Like 1	Protein Coding	7.42	DISEASES inferred ¹⁵
21	STIL	STIL, Centriolar Assembly Protein	Protein Coding	7.28	DISEASES inferred ¹⁵
22	RELN	Reelin	Protein Coding	7.23	DISEASES inferred ¹⁵
23	ARFGEF2	ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 2	Protein Coding	7.15	DISEASES inferred ¹⁵
24	FKTN	Fukutin	Protein Coding	7.09	DISEASES inferred ¹⁵
25	TUBB2B	Tubulin Beta 2B Class IIb	Protein Coding	7.01	DISEASES inferred ¹⁵
26	PTER	Phosphotriesterase Related	Protein Coding	6.99	DISEASES inferred ¹⁵
27	POMGNT1	Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)	Protein Coding	6.94	DISEASES inferred ¹⁵
28	POMT1	Protein O-Mannosyltransferase 1	Protein Coding	6.89	DISEASES inferred ¹⁵
29	FOXG1	Forkhead Box G1	Protein Coding	6.88	DISEASES inferred ¹⁵
30	NBN	Nibrin	Protein Coding	6.88	DISEASES inferred ¹⁵
31	PQBP1	Polyglutamine Binding Protein 1	Protein Coding	6.84	DISEASES inferred ¹⁵
32	EFTUD2	Elongation Factor Tu GTP Binding Domain Containing 2	Protein Coding	6.84	DISEASES inferred ¹⁵
33	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	6.83	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:

(show all 11)

#	Super pathways	Score	Top Affiliating Genes
1	Cell Cycle, Mitotic ⁶⁶ Show member pathways Cell Cycle ⁶⁶ M Phase ⁶⁶	13.02	CDK5RAP2 CENPJ CEP63 MCPH1 NDE1 NDEL1
2	Regulation of PLK1 Activity at G2/M Transition ⁶⁶ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁶ AURKA Activation by TPX2 ⁶⁶ Centrosome maturation ⁶⁶ G2/M Transition ⁶⁶ Interaction between PHLDA1 and AURKA ⁶⁶ Loss of Nlp from mitotic centrosomes ⁶⁶ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁶ Mitotic G2-G2/M phases ⁶⁶ Polo-like kinase mediated events ⁶⁶ Recruitment of mitotic centrosome proteins and complexes ⁶⁶ Recruitment of NuMA to mitotic centrosomes ⁶⁶	12.92	CDK5RAP2 CENPJ CEP63 NDE1 PAFAH1B1 TUBA1A
3	Organelle biogenesis and maintenance ⁶⁶ Show member pathways Cilium Assembly ⁶⁶	12.16	CDK5RAP2 CENPJ CEP63 NDE1 PAFAH1B1 TUBA1A
4	Cytoskeletal Signaling ⁴	12.04	DCX FLNA PAFAH1B1 TUBA1A TUBB3
5	Regulation of CFTR activity (norm and CF) ²² Show member pathways Regulation of CFTR gating (normal and CF) ²² wtCFTR and deltaF508 traffic / Membrane expression (norm and CF) ²²	11.84	FLNA TUBA1A TUBA3D TUBB3
6	Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding ⁶⁶ Show member pathways Folding of actin by CCT/TriC ⁶⁶ Formation of tubulin folding intermediates by CCT/TriC ⁶⁶ Post-chaperonin tubulin folding pathway ⁶⁶ Prefoldin mediated transfer of substrate to CCT/TriC ⁶⁶	11.76	TUBA1A TUBA3D TUBB3
7	Cytoskeleton remodeling Neurofilaments ²² Show member pathways Cytoskeleton remodeling Keratin filaments ²²	11.69	TUBA1A TUBA3D TUBB3
8	Cell cycle_Spindle assembly and chromosome separation ²²	11.59	TUBA1A TUBA3D TUBB3
9	Gap junction ³⁷	11.52	TUBA1A TUBA3D TUBB3
10	Tgif disruption of Shh signaling ¹	10.32	NODAL SHH
11	Lissencephaly gene (LIS1) in neuronal migration and development ¹	10.29	DCX NDEL1 PAFAH1B1

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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:

(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

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