NDMSCA
MCID: NRD038
MIFTS: 18

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)


HPO:

33
neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy:
Onset and clinical course infantile onset progressive


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). Affiliated tissues include brain, and related phenotypes are seizures and global developmental delay

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 (show all 15)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 global developmental delay 33 HP:0001263
3 depressed nasal bridge 33 HP:0005280
4 short nose 33 HP:0003196
5 micrognathia 33 HP:0000347
6 myopia 33 HP:0000545
7 cerebral cortical atrophy 33 HP:0002120
8 intellectual disability, profound 33 HP:0002187
9 long eyelashes 33 HP:0000527
10 cerebellar atrophy 33 HP:0001272
11 sloping forehead 33 HP:0000340
12 astigmatism 33 HP:0000483
13 hypoplasia of the corpus callosum 33 HP:0002079
14 small anterior fontanelle 33 HP:0000237
15 progressive microcephaly 33 HP:0000253

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...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy:

42
Brain

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

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

# Title Authors Year
1
Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy. ( 29691655 )
2018
2
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. ( 26539891 )
2015

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

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

6 (show all 32)
# 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.2464G> A (p.Gly822Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 31749338: 31749338
18 VARS NM_006295.2(VARS): c.2464G> A (p.Gly822Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 31781561: 31781561
19 VARS NM_006295.2(VARS): c.1325G> A (p.Arg442Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 31785268: 31785268
20 VARS NM_006295.2(VARS): c.1325G> A (p.Arg442Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 31753045: 31753045
21 VARS NM_006295.2(VARS): c.1300C> G (p.Leu434Val) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 31785293: 31785293
22 VARS NM_006295.2(VARS): c.1300C> G (p.Leu434Val) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 31753070: 31753070
23 VARS NM_006295.2(VARS): c.1210C> T (p.Arg404Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 31753401: 31753401
24 VARS NM_006295.2(VARS): c.1210C> T (p.Arg404Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 31785624: 31785624
25 VARS NM_006295.2(VARS): c.1199A> C (p.Gln400Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 31785635: 31785635
26 VARS NM_006295.2(VARS): c.1199A> C (p.Gln400Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 31753412: 31753412
27 VARS NM_006295.2(VARS): c.219_232dup (p.Leu78Argfs) duplication Pathogenic GRCh37 Chromosome 6, 31762763: 31762776
28 VARS NM_006295.2(VARS): c.219_232dup (p.Leu78Argfs) duplication Pathogenic GRCh38 Chromosome 6, 31794986: 31794999
29 VARS NM_006295.2(VARS): c.1577-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 6, 31752087: 31752087
30 VARS NM_006295.2(VARS): c.1577-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 6, 31784310: 31784310
31 VARS NM_006295.2(VARS): c.3192G> A (p.Met1064Ile) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 31779704: 31779704
32 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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