NEDMAS
MCID: NRD035
MIFTS: 14

Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures (NEDMAS)

Categories: Genetic diseases, Neuronal diseases

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

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

Name: Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures 57 75 6
Nedmas 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of seizures in infancy
ataxia becomes apparent in childhood
one consanguineous family has been reported (last curated october 2017)


Classifications:



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

UniProtKB/Swiss-Prot : 75 Neurodevelopmental disorder with microcephaly, ataxia, and seizures: An autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, seizures apparent in infancy, impaired speech, and aggressive behavior. Additional features include microcephaly, ataxia, and muscle weakness.

MalaCards based summary : Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures, is also known as nedmas. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures is SARS (Seryl-TRNA Synthetase). Related phenotypes are seizures and ataxia

Description from OMIM: 617709

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

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
intellectual disability, moderate
delayed psychomotor development
impaired speech

Skeletal Feet:
pes planus

Growth Other:
thin body habitus

Muscle Soft Tissue:
muscle weakness

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior

Head And Neck Head:
microcephaly (-4 to -5 sd)


Clinical features from OMIM:

617709

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

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 ataxia 32 HP:0001251
3 global developmental delay 32 HP:0001263
4 intellectual disability, moderate 32 HP:0002342

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

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

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

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

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

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

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures:

75
# Symbol AA change Variation ID SNP ID
1 SARS p.Asp172Asn VAR_078434

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SARS NM_006513.3(SARS): c.514G> A (p.Asp172Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 109773566: 109773566
2 SARS NM_006513.3(SARS): c.514G> A (p.Asp172Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 109230944: 109230944

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

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

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

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

Sources for Neurodevelopmental Disorder with Microcephaly, Ataxia, 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
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
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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