NEDMAS
MCID: NRD035
MIFTS: 16

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 56 73 6
Nedmas 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
neurodevelopmental disorder with microcephaly, ataxia, and seizures:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 73 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 SARS1 (Seryl-TRNA Synthetase 1). Related phenotypes are global developmental delay and pes planus

More information 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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 pes planus 31 HP:0001763
3 microcephaly 31 HP:0000252
4 muscle weakness 31 HP:0001324
5 ataxia 31 HP:0001251
6 slender build 31 HP:0001533
7 intellectual disability, moderate 31 HP:0002342
8 aggressive behavior 31 HP:0000718
9 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
ataxia
intellectual disability, moderate
delayed psychomotor development
impaired speech

Muscle Soft Tissue:
muscle weakness

Growth Other:
thin body habitus

Skeletal Feet:
pes planus

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 PMID Year
1
Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. 56 6
28236339 2017

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

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SARS1 NM_006513.4(SARS1):c.514G>A (p.Asp172Asn)SNV Pathogenic 440921 rs1553178049 1:109773566-109773566 1:109230944-109230944
2 SARS1 NM_006513.4(SARS1):c.950G>A (p.Arg317Gln)SNV Uncertain significance 638324 1:109778034-109778034 1:109235412-109235412

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

73
# Symbol AA change Variation ID SNP ID
1 SARS1 p.Asp172Asn VAR_078434 rs155317804

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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