NEDMEBA
MCID: NRD042
MIFTS: 10

Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy (NEDMEBA)

Categories: Genetic diseases, Neuronal diseases

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

MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy:

Name: Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy 57 75 29 6
Nedmeba 57 75

Classifications:



External Ids:

OMIM 57 617862
MedGen 42 CN787271
MeSH 44 D065886

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

UniProtKB/Swiss-Prot : 75 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy: An autosomal recessive neurodevelopmental disorder characterized by microcephaly, global developmental delay, hypotonia, intellectual disability, autistic features such as poor social interaction, language impairment and repetitive automatism behaviors, and generalized tonic-clonic seizures. Brain imaging shows cortical atrophy, thin corpus callosum, and cerebellar and brainstem atrophy.

MalaCards based summary : Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy, is also known as nedmeba. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy is TRAPPC6B (Trafficking Protein Particle Complex 6B). Affiliated tissues include brain.

OMIM : 57 NEDMEBA is an autosomal recessive neurodegenerative disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia (summary by Marin-Valencia et al., 2018). (617862)

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

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

Clinical features from OMIM:

617862

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

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy

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

Genetic tests related to Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy:

# Genetic test Affiliating Genes
1 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy 29 TRAPPC6B

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

MalaCards organs/tissues related to Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy:

41
Brain

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

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

ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRAPPC6B NM_177452.3(TRAPPC6B): c.150-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 14, 39627608: 39627608
2 TRAPPC6B NM_177452.3(TRAPPC6B): c.150-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 14, 39158404: 39158404
3 TRAPPC6B NM_177452.3(TRAPPC6B): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs377626365 GRCh37 Chromosome 14, 39628712: 39628712
4 TRAPPC6B NM_177452.3(TRAPPC6B): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs377626365 GRCh38 Chromosome 14, 39159508: 39159508

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

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy.

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

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

Sources for Neurodevelopmental Disorder with Microcephaly, Epilepsy, 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
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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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