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 58 76 6
Nedmas 58 76

Characteristics:

OMIM:

58
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 : 76 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...

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

33
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 ataxia 33 HP:0001251
3 global developmental delay 33 HP:0001263
4 intellectual disability, moderate 33 HP:0002342

Symptoms via clinical synopsis from OMIM:

58
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

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...

Articles related to Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures:

# Title Authors Year
1
Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. ( 28236339 )
2017

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

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

76
# 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 rs1553178049 GRCh37 Chromosome 1, 109773566: 109773566
2 SARS NM_006513.3(SARS): c.514G> A (p.Asp172Asn) single nucleotide variant Pathogenic rs1553178049 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....