MCID: NRD038
MIFTS: 12

Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy:

Name: Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy 57 75 6
Ndmsca 57 75
Neurodevelopmental Disorder with Microcephaly, Seizures, Cortical Atrophy 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
three patients from 2 unrelated consanguineous families have been reported (last curated december 2017)


Classifications:



External Ids:

OMIM 57 617802
MeSH 44 D065886

Summaries for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

UniProtKB/Swiss-Prot : 75 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy: An autosomal recessive neurodevelopmental disorder characterized by severe developmental delay, intellectual disability, severe microcephaly, and cortical atrophy.

MalaCards based summary : Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy, is also known as ndmsca. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy is VARS (Valyl-TRNA Synthetase).

Description from OMIM: 617802

Related Diseases for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
delayed psychomotor development
intellectual disability
seizures
cortical atrophy


Clinical features from OMIM:

617802

Drugs & Therapeutics for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy

Genetic Tests for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Anatomical Context for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Publications for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Variations for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VARS NM_006295.2(VARS): c.3173G> A (p.Arg1058Gln) single nucleotide variant Likely pathogenic rs769369302 GRCh37 Chromosome 6, 31747500: 31747500
2 VARS NM_006295.2(VARS): c.3173G> A (p.Arg1058Gln) single nucleotide variant Likely pathogenic rs769369302 GRCh38 Chromosome 6, 31779723: 31779723
3 VARS NM_006295.2(VARS): c.2653C> T (p.Leu885Phe) single nucleotide variant Likely pathogenic rs1060499734 GRCh38 Chromosome 6, 31780935: 31780935
4 VARS NM_006295.2(VARS): c.2653C> T (p.Leu885Phe) single nucleotide variant Likely pathogenic rs1060499734 GRCh37 Chromosome 6, 31748712: 31748712
5 VARS; VARS2 NM_006295.2(VARS): c.1981C> A (p.Pro661Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 31782540: 31782540
6 VARS; VARS2 NM_006295.2(VARS): c.1981C> A (p.Pro661Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 31750317: 31750317

Expression for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy.

Pathways for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

GO Terms for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

Sources for Neurodevelopmental Disorder with Microcephaly, Seizures, and...

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
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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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