NEDMEBA
MCID: NRD042
MIFTS: 18

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 58 76 30 6
Nedmeba 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early infancy


HPO:

33
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy:
Onset and clinical course progressive


Classifications:



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

UniProtKB/Swiss-Prot : 76 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, and related phenotypes are nystagmus and ataxia

OMIM : 58 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...

Human phenotypes related to Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 ataxia 33 HP:0001251
3 tremor 33 HP:0001337
4 hyperreflexia 33 HP:0001347
5 global developmental delay 33 HP:0001263
6 stereotypy 33 HP:0000733
7 intellectual disability, severe 33 HP:0010864
8 strabismus 33 HP:0000486
9 ventriculomegaly 33 HP:0002119
10 cerebral cortical atrophy 33 HP:0002120
11 cerebellar atrophy 33 HP:0001272
12 hypoplasia of the corpus callosum 33 HP:0002079
13 atrophy/degeneration affecting the brainstem 33 HP:0007366

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
strabismus

Muscle Soft Tissue:
hypotonia

Growth Height:
short stature (-2 to -3 sd)

Neurologic Central Nervous System:
ataxia
tremor
hyperreflexia
global developmental delay
intellectual disability, severe
more
Neurologic Behavioral Psychiatric Manifestations:
stereotypic behaviors
hand-flapping
poor social interaction

Head And Neck Head:
microcephaly, progressive (-4 to -7 sd)

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 30 TRAPPC6B

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

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

42
Brain

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

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

# Title Authors Year
1
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. ( 28626029 )
2018
2
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. ( 28397838 )
2018

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 rs1347223331 GRCh37 Chromosome 14, 39627608: 39627608
2 TRAPPC6B NM_177452.3(TRAPPC6B): c.150-2A> G single nucleotide variant Pathogenic rs1347223331 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 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
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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
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