NDMSCA
MCID: NRD038
MIFTS: 15

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 58 76 6 17
Ndmsca 58 76
Neurodevelopmental Disorder with Microcephaly, Seizures, Cortical Atrophy 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder
five patients from 3 families have been reported (last curated october 2018)


Classifications:



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

UniProtKB/Swiss-Prot : 76 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...

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

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 global developmental delay 33 HP:0001263
4 cerebral cortical atrophy 33 HP:0002120

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

Head And Neck Nose:
short nose
flat nasal bridge

Head And Neck Eyes:
myopia
long eyelashes
astigmatism

Muscle Soft Tissue:
hypotonia, generalized

Skeletal:
distal contractures

Neurologic Central Nervous System:
seizures
intellectual disability, profound
cerebellar atrophy
thin corpus callosum
delayed psychomotor development, profound
more
Head And Neck Face:
micrognathia
sloping forehead

Abdomen Gastrointestinal:
swallowing difficulties

Head And Neck Head:
small anterior fontanel
microcephaly, progressive (up to -9 sd)

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 (show all 22)
# 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 GRCh37 Chromosome 6, 31750138: 31750138
6 VARS NM_006295.2(VARS): c.2074G> C (p.Ala692Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 31782361: 31782361
7 VARS NM_006295.2(VARS): c.1324C> T (p.Arg442Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 31753046: 31753046
8 VARS NM_006295.2(VARS): c.1324C> T (p.Arg442Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 31785269: 31785269
9 VARS; VARS2 NM_006295.2(VARS): c.1981C> A (p.Pro661Thr) single nucleotide variant Likely pathogenic rs1401228799 GRCh38 Chromosome 6, 31782540: 31782540
10 VARS; VARS2 NM_006295.2(VARS): c.1981C> A (p.Pro661Thr) single nucleotide variant Likely pathogenic rs1401228799 GRCh37 Chromosome 6, 31750317: 31750317
11 VARS NM_006295.2(VARS): c.3355C> T (p.Arg1119Cys) single nucleotide variant Likely pathogenic rs149378938 GRCh38 Chromosome 6, 31779470: 31779470
12 VARS NM_006295.2(VARS): c.3355C> T (p.Arg1119Cys) single nucleotide variant Likely pathogenic rs149378938 GRCh37 Chromosome 6, 31747247: 31747247
13 VARS NM_006295.2(VARS): c.2840G> A (p.Arg947His) single nucleotide variant Likely pathogenic rs150882285 GRCh38 Chromosome 6, 31780526: 31780526
14 VARS NM_006295.2(VARS): c.2840G> A (p.Arg947His) single nucleotide variant Likely pathogenic rs150882285 GRCh37 Chromosome 6, 31748303: 31748303
15 VARS NM_006295.2(VARS): c.2825G> A (p.Arg942Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 31780541: 31780541
16 VARS NM_006295.2(VARS): c.2825G> A (p.Arg942Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 31748318: 31748318
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.1577-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 6, 31752087: 31752087
20 VARS NM_006295.2(VARS): c.1577-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 6, 31784310: 31784310
21 VARS NM_006295.2(VARS): c.3192G> A (p.Met1064Ile) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 31779704: 31779704
22 VARS NM_006295.2(VARS): c.3192G> A (p.Met1064Ile) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 31747481: 31747481

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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