NDMSCA
MCID: NRD038
MIFTS: 14

Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy (NDMSCA)

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:



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). Related phenotypes are intellectual disability and seizures

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

Head And Neck Head:
microcephaly


Clinical features from OMIM:

617802

Human phenotypes related to Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 global developmental delay 32 HP:0001263
4 cerebral cortical atrophy 32 HP:0002120

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 (show all 24)
# 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 NM_006295.2(VARS): c.2074G> C (p.Ala692Pro) single nucleotide variant Pathogenic rs747824231 GRCh37 Chromosome 6, 31750138: 31750138
6 VARS NM_006295.2(VARS): c.2074G> C (p.Ala692Pro) single nucleotide variant Pathogenic rs747824231 GRCh38 Chromosome 6, 31782361: 31782361
7 VARS NM_006295.2(VARS): c.1324C> T (p.Arg442Ter) single nucleotide variant Pathogenic rs763777257 GRCh37 Chromosome 6, 31753046: 31753046
8 VARS NM_006295.2(VARS): c.1324C> T (p.Arg442Ter) single nucleotide variant Pathogenic rs763777257 GRCh38 Chromosome 6, 31785269: 31785269
9 VARS; VARS2 NM_006295.2(VARS): c.1981C> A (p.Pro661Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 31782540: 31782540
10 VARS; VARS2 NM_006295.2(VARS): c.1981C> A (p.Pro661Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 31750317: 31750317
11 VARS NM_006295.2(VARS): c.2825G> A (p.Arg942Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 31780541: 31780541
12 VARS NM_006295.2(VARS): c.2825G> A (p.Arg942Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 31748318: 31748318
13 VARS NM_006295.2(VARS): c.2464G> A (p.Gly822Ser) single nucleotide variant Pathogenic rs376864621 GRCh37 Chromosome 6, 31749338: 31749338
14 VARS NM_006295.2(VARS): c.2464G> A (p.Gly822Ser) single nucleotide variant Pathogenic rs376864621 GRCh38 Chromosome 6, 31781561: 31781561
15 VARS NM_006295.2(VARS): c.1325G> A (p.Arg442Gln) single nucleotide variant Pathogenic rs762729609 GRCh38 Chromosome 6, 31785268: 31785268
16 VARS NM_006295.2(VARS): c.1325G> A (p.Arg442Gln) single nucleotide variant Pathogenic rs762729609 GRCh37 Chromosome 6, 31753045: 31753045
17 VARS NM_006295.2(VARS): c.1300C> G (p.Leu434Val) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 31785293: 31785293
18 VARS NM_006295.2(VARS): c.1300C> G (p.Leu434Val) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 31753070: 31753070
19 VARS NM_006295.2(VARS): c.1210C> T (p.Arg404Trp) single nucleotide variant Pathogenic rs749228986 GRCh37 Chromosome 6, 31753401: 31753401
20 VARS NM_006295.2(VARS): c.1210C> T (p.Arg404Trp) single nucleotide variant Pathogenic rs749228986 GRCh38 Chromosome 6, 31785624: 31785624
21 VARS NM_006295.2(VARS): c.1199A> C (p.Gln400Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 31785635: 31785635
22 VARS NM_006295.2(VARS): c.1199A> C (p.Gln400Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 31753412: 31753412
23 VARS NM_006295.2(VARS): c.219_232dup (p.Leu78Argfs) duplication Pathogenic GRCh37 Chromosome 6, 31762763: 31762776
24 VARS NM_006295.2(VARS): c.219_232dup (p.Leu78Argfs) duplication Pathogenic GRCh38 Chromosome 6, 31794986: 31794999

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...

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