MCID: CNG031
MIFTS: 32

Congenital Nervous System Abnormality

Categories: Blood diseases, Immune diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Congenital Nervous System Abnormality

MalaCards integrated aliases for Congenital Nervous System Abnormality:

Name: Congenital Nervous System Abnormality 11 14
Congenital Nervous System Disorder 5
Congenital Neurologic Anomaly 11

Classifications:



External Ids:

Disease Ontology 11 DOID:2490
ICD9CM 34 742
SNOMED-CT 68 204018008
UMLS 71 C0158538

Summaries for Congenital Nervous System Abnormality

MalaCards based summary: Congenital Nervous System Abnormality, also known as congenital nervous system disorder, is related to microcephaly and lissencephaly. An important gene associated with Congenital Nervous System Abnormality is PNKP (Polynucleotide Kinase 3'-Phosphatase), and among its related pathways/superpathways is Lissencephaly gene (LIS1) in neuronal migration and development. Related phenotypes are nervous system and growth/size/body region

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 65)
# Related Disease Score Top Affiliating Genes
1 microcephaly 34.1 ZIC2 WDR62 VPS13B TSEN54 TRAPPC9 RNASEH2B
2 lissencephaly 33.4 WDR62 VLDLR POMT1 POMGNT1 FOXG1 EXOSC3
3 periventricular nodular heterotopia 33.3 WDR62 VLDLR POMT1 POMGNT1 FOXG1 DCX
4 band heterotopia 33.1 WDR62 VLDLR POMGNT1 DCX ASPM
5 nervous system disease 12.0 ZIC2 WDR62 VPS13B VLDLR TSEN54 TRAPPC9
6 anencephaly 11.2
7 tubulinopathy 11.2
8 holoprosencephaly 11.2
9 pontocerebellar hypoplasia 11.0 WDR62 VLDLR TSEN54 POMT1 POMGNT1 EXOSC3
10 miller-dieker lissencephaly syndrome 10.9 WDR62 VLDLR FOXG1 DCX ASPM
11 physical disorder 10.9 ZIC2 WDR62 POMT1 POMGNT1 ASPM
12 walker-warburg syndrome 10.9 WDR62 TSEN54 SRD5A3 POMT1 POMGNT1
13 hypotonia 10.9 VPS13B NALCN MECP2 FOXG1 EXOSC3
14 lissencephaly 2 10.8 WDR62 VLDLR POMT1 POMGNT1
15 primary microcephaly 10.8 WDR62 PNKP FOXG1 ASPM
16 primary autosomal recessive microcephaly 10.8 WDR62 TRAPPC9 PNKP ASPM
17 strabismus 10.8 VLDLR NALCN MECP2 FOXG1
18 peho syndrome 10.8 TSEN54 MECP2 FOXG1
19 glaucoma 3, primary congenital, a 10.8 SRD5A3 POMT1 POMGNT1
20 fetal akinesia deformation sequence 1 10.8 NALCN EXOSC3 ASPM
21 seckel syndrome 10.7 WDR62 PNKP ASPM
22 congenital muscular dystrophy with cerebellar involvement 10.7 POMT1 POMGNT1
23 congenital muscular dystrophy-dystroglycanopathy type a1 10.7 POMT1 POMGNT1
24 muscular dystrophy-dystroglycanopathy 10.7 POMT1 POMGNT1
25 gait apraxia 10.7 MECP2 FOXG1
26 cerebellar disease 10.7 VLDLR PNKP EXOSC3
27 non-syndromic pontocerebellar hypoplasia 10.7 TSEN54 EXOSC3
28 motor stereotypies 10.7 MECP2 FOXG1
29 neuronal migration disorders 10.7 WDR62 VPS13B
30 congenital muscular dystrophy-dystroglycanopathy type a3 10.7 POMT1 POMGNT1
31 retinitis pigmentosa 83 10.7 VPS13B POMGNT1
32 microcephaly 17, primary, autosomal recessive 10.7 WDR62 ASPM
33 muscular dystrophy-dystroglycanopathy , type c, 2 10.7 POMT1 POMGNT1
34 cardiomyopathy, dilated, 1d 10.7 POMT1 POMGNT1
35 pontocerebellar hypoplasia, type 1c 10.7 TSEN54 EXOSC3
36 microcephaly 9, primary, autosomal recessive 10.7 WDR62 ASPM
37 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 10.7 TSEN54 PLA2G6
38 microcephaly, autosomal dominant 10.7 WDR62 ASPM
39 cobblestone lissencephaly 10.7 POMT1 POMGNT1
40 microcephaly 13, primary, autosomal recessive 10.7 WDR62 ASPM
41 nescav syndrome 10.7 MECP2 FOXG1
42 seckel syndrome 5 10.6 TRAPPC9 EXOSC3
43 muscular dystrophy-dystroglycanopathy , type c, 1 10.6 POMT1 POMGNT1
44 muscular dystrophy-dystroglycanopathy , type b, 6 10.6 POMT1 POMGNT1
45 congenital disorder of glycosylation, type in 10.6 SRD5A3 POMT1 POMGNT1
46 ablepharon-macrostomia syndrome 10.6 POMT1 POMGNT1
47 autosomal recessive limb-girdle muscular dystrophy type 2l 10.6 POMT1 POMGNT1
48 pontocerebellar hypoplasia, type 1d 10.6 TSEN54 EXOSC3
49 polymicrogyria 10.6 WDR62 POMT1 POMGNT1
50 anterior horn cell disease 10.6 TSEN54 EXOSC3

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.39 AP4B1 ASPM CLN6 DCX FOXG1 MECP2
2 growth/size/body region MP:0005378 10.33 ASPM CLN6 DCX EXOSC3 FOXG1 MECP2
3 homeostasis/metabolism MP:0005376 10.28 ASPM DCX EXOSC3 FOXG1 MECP2 NALCN
4 cellular MP:0005384 10.15 ASPM FOXG1 MECP2 PLA2G6 PNKP POMGNT1
5 cardiovascular system MP:0005385 10.13 CLN6 EXOSC3 FOXG1 MECP2 PNKP POMGNT1
6 behavior/neurological MP:0005386 10.1 AP4B1 CLN6 DCX FOXG1 MECP2 NALCN
7 immune system MP:0005387 9.9 FOXG1 MECP2 NALCN PLA2G6 POMT1 RNASEH2B
8 vision/eye MP:0005391 9.65 CLN6 FOXG1 MECP2 PLA2G6 POMGNT1 POMT1
9 mortality/aging MP:0010768 9.53 CLN6 DCX EXOSC3 FOXG1 MECP2 NALCN

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

Articles related to Congenital Nervous System Abnormality:

# Title Authors PMID Year
1
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
2
Network science in Egyptology. 62
23185613 2012

Variations for Congenital Nervous System Abnormality

ClinVar genetic disease variations for Congenital Nervous System Abnormality:

5 (show top 50) (show all 138)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PSEN1 NM_000021.4(PSEN1):c.833G>C (p.Arg278Thr) SNV Pathogenic
18139 rs63749891 GRCh37: 14:73664802-73664802
GRCh38: 14:73198094-73198094
2 KCNV2 NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg) SNV Pathogenic
37247 rs149648640 GRCh37: 9:2729470-2729470
GRCh38: 9:2729470-2729470
3 CEP290 NM_025114.4(CEP290):c.3176del (p.Ile1059fs) DEL Pathogenic
217629 rs863225184 GRCh37: 12:88487680-88487680
GRCh38: 12:88093903-88093903
4 MLC1 NM_015166.4(MLC1):c.177+1G>T SNV Pathogenic
548493 rs1374593138 GRCh37: 22:50523154-50523154
GRCh38: 22:50084725-50084725
5 MICU1 NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter) SNV Pathogenic
265243 rs777327250 GRCh37: 10:74268018-74268018
GRCh38: 10:72508260-72508260
6 MECP2 NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter) SNV Pathogenic
143500 rs267608438 GRCh37: X:153297832-153297832
GRCh38: X:154032381-154032381
7 VPS13B NM_152564.5(VPS13B):c.6804del (p.Phe2268fs) DEL Pathogenic
817631 rs761736983 GRCh37: 8:100732717-100732717
GRCh38: 8:99720489-99720489
8 GNAO1 NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys) SNV Pathogenic
208777 rs797044951 GRCh37: 16:56385308-56385308
GRCh38: 16:56351396-56351396
9 POLG NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) SNV Pathogenic
206556 rs201732356 GRCh37: 15:89861968-89861968
GRCh38: 15:89318737-89318737
10 CACNA1A NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr) SNV Pathogenic
254268 GRCh37: 19:13414398-13414398
GRCh38: 19:13303584-13303584
11 RNASEH2C NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) SNV Pathogenic
1260 rs78635798 GRCh37: 11:65487856-65487856
GRCh38: 11:65720385-65720385
12 CPT2 NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) SNV Pathogenic
8958 rs74315295 GRCh37: 1:53676494-53676494
GRCh38: 1:53210822-53210822
13 ASPM NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) MICROSAT Pathogenic
21560 rs199422147 GRCh37: 1:197108961-197108964
GRCh38: 1:197139831-197139834
14 CREBBP NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) SNV Pathogenic
9433 rs267606752 GRCh37: 16:3799632-3799632
GRCh38: 16:3749631-3749631
15 SRD5A3 NM_024592.5(SRD5A3):c.424C>T (p.Arg142Ter) SNV Pathogenic
18406 rs267607095 GRCh37: 4:56230300-56230300
GRCh38: 4:55364133-55364133
16 CAMK2B NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) SNV Pathogenic
430922 rs1554389088 GRCh37: 7:44283125-44283125
GRCh38: 7:44243526-44243526
17 ARSA NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) SNV Pathogenic
3060 rs74315459 GRCh37: 22:51064630-51064630
GRCh38: 22:50626202-50626202
18 POMT1 NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) SNV Pathogenic
3243 rs119462982 GRCh37: 9:134385188-134385188
GRCh38: 9:131509801-131509801
19 ZEB2 NM_014795.4(ZEB2):c.625C>T (p.Gln209Ter) SNV Pathogenic
1180834 GRCh37: 2:145161665-145161665
GRCh38: 2:144404098-144404098
20 TBCK NM_001163435.3(TBCK):c.247C>T (p.Arg83Ter) SNV Pathogenic
1180828 GRCh37: 4:107216270-107216270
GRCh38: 4:106295113-106295113
21 PLA2G6 NM_003560.4(PLA2G6):c.1893G>A (p.Trp631Ter) SNV Pathogenic
1180814 GRCh37: 22:38511675-38511675
GRCh38: 22:38115668-38115668
22 ASPM NM_018136.5(ASPM):c.1694del (p.Ser565fs) DEL Pathogenic
1180803 GRCh37: 1:197111688-197111688
GRCh38: 1:197142558-197142558
23 VLDLR NM_003383.5(VLDLR):c.2466G>A (p.Trp822Ter) SNV Pathogenic
1180758 GRCh37: 9:2652829-2652829
GRCh38: 9:2652829-2652829
24 TSEN54 NM_207346.3(TSEN54):c.1252+1G>T SNV Pathogenic
1180778 GRCh37: 17:73518415-73518415
GRCh38: 17:75522334-75522334
25 ASPM NM_018136.5(ASPM):c.6047_6053del (p.His2015_Leu2016insTer) DEL Pathogenic
1180743 GRCh37: 1:197072328-197072334
GRCh38: 1:197103198-197103204
26 ASPM NM_018136.5(ASPM):c.1592_1595del (p.Val531fs) DEL Pathogenic
1180742 GRCh37: 1:197111787-197111790
GRCh38: 1:197142657-197142660
27 POMGNT1 NM_017739.4(POMGNT1):c.74G>A (p.Trp25Ter) SNV Pathogenic
1180732 GRCh37: 1:46663420-46663420
GRCh38: 1:46197748-46197748
28 AP4M1 NM_004722.4(AP4M1):c.53_54del (p.Lys18fs) DEL Pathogenic
1180679 GRCh37: 7:99699389-99699390
GRCh38: 7:100101766-100101767
29 ZIC2 NM_007129.5(ZIC2):c.1182_1183dup (p.Cys395fs) MICROSAT Pathogenic
1180672 GRCh37: 13:100637302-100637303
GRCh38: 13:99985048-99985049
30 WDR62 NM_001083961.2(WDR62):c.1319G>A (p.Trp440Ter) SNV Pathogenic
1180671 GRCh37: 19:36572420-36572420
GRCh38: 19:36081518-36081518
31 KMT2D NM_003482.4(KMT2D):c.9790C>T (p.Gln3264Ter) SNV Pathogenic
1180635 GRCh37: 12:49431349-49431349
GRCh38: 12:49037566-49037566
32 CLN6 NM_017882.3(CLN6):c.396dup (p.Val133fs) DUP Pathogenic
1180629 GRCh37: 15:68504102-68504103
GRCh38: 15:68211764-68211765
33 AMPD2 NM_001368809.2(AMPD2):c.532-1G>T SNV Pathogenic
1180624 GRCh37: 1:110169347-110169347
GRCh38: 1:109626725-109626725
34 NALCN NM_052867.4(NALCN):c.1313G>A (p.Trp438Ter) SNV Pathogenic
1180618 GRCh37: 13:101890227-101890227
GRCh38: 13:101237876-101237876
35 FUCA1 NM_000147.5(FUCA1):c.768+1G>A SNV Pathogenic
984720 rs1639468949 GRCh37: 1:24186287-24186287
GRCh38: 1:23859797-23859797
36 TPP1 NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter) SNV Pathogenic
370212 rs1057516319 GRCh37: 11:6636680-6636680
GRCh38: 11:6615449-6615449
37 PNKP NM_007254.4(PNKP):c.976G>A (p.Glu326Lys) SNV Pathogenic
4846 rs267606956 GRCh37: 19:50365681-50365681
GRCh38: 19:49862424-49862424
38 TRAPPC9 NM_001160372.4(TRAPPC9):c.1129C>T (p.Arg377Ter) SNV Pathogenic
758 rs267607136 GRCh37: 8:141407724-141407724
GRCh38: 8:140397625-140397625
39 GNAO1 NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg) SNV Pathogenic
66115 GRCh37: 16:56370656-56370656
GRCh38: 16:56336744-56336744
40 FOXG1 NM_005249.5(FOXG1):c.256dup (p.Gln86fs) DUP Pathogenic
189613 rs786205001 GRCh37: 14:29236734-29236735
GRCh38: 14:28767528-28767529
41 TMEM67 NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) SNV Pathogenic
216826 rs775883520 GRCh37: 8:94792831-94792831
GRCh38: 8:93780603-93780603
42 DCX NM_001195553.2(DCX):c.240dup (p.Asp81Ter) DUP Pathogenic
1180597 GRCh37: X:110653386-110653387
GRCh38: X:111410158-111410159
43 PLA2G6 NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) SNV Pathogenic
6195 rs121908680 GRCh37: 22:38508219-38508219
GRCh38: 22:38112212-38112212
44 AP4B1-AS1, AP4B1 NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) DEL Pathogenic
156414 rs587779388 GRCh37: 1:114441377-114441378
GRCh38: 1:113898755-113898756
45 SRD5A3 NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) SNV Pathogenic
96125 rs398124401 GRCh37: 4:56212560-56212560
GRCh38: 4:55346393-55346393
46 TBCK NM_001163435.3(TBCK):c.1897+1G>A SNV Pathogenic
183338 rs374319146 GRCh37: 4:107115874-107115874
GRCh38: 4:106194717-106194717
47 TSC2 NM_000548.5(TSC2):c.2160del (p.Val721fs) DEL Pathogenic
1180663 GRCh37: 16:2122302-2122302
GRCh38: 16:2072301-2072301
48 RNASEH2B NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) SNV Pathogenic
1262 rs75184679 GRCh37: 13:51519581-51519581
GRCh38: 13:50945445-50945445
49 CEP290 NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) SNV Pathogenic
1333 rs137852832 GRCh37: 12:88471040-88471040
GRCh38: 12:88077263-88077263
50 GAMT NM_000156.6(GAMT):c.316C>T (p.Gln106Ter) SNV Pathogenic
566624 rs1369786965 GRCh37: 19:1399803-1399803
GRCh38: 19:1399804-1399804

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 10.07 VLDLR DCX

GO Terms for Congenital Nervous System Abnormality

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

# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.7 ZIC2 MECP2 FOXG1 DCX ASPM
2 memory GO:0007613 9.65 VLDLR PLA2G6 MECP2
3 positive regulation of neuroblast proliferation GO:0002052 9.43 WDR62 FOXG1 ASPM
4 cerebral cortex development GO:0021987 9.17 WDR62 TRAPPC9 FOXG1 ASPM

Sources for Congenital Nervous System Abnormality

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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