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 57 74 29 6
Nedmeba 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early infancy


HPO:

32
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

OMIM 57 617862
MeSH 44 D065886

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

UniProtKB/Swiss-Prot : 74 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 : 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...

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

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 ataxia 32 HP:0001251
3 tremor 32 HP:0001337
4 hyperreflexia 32 HP:0001347
5 global developmental delay 32 HP:0001263
6 short stature 32 HP:0004322
7 stereotypy 32 HP:0000733
8 intellectual disability, severe 32 HP:0010864
9 generalized hypotonia 32 HP:0001290
10 strabismus 32 HP:0000486
11 ventriculomegaly 32 HP:0002119
12 cerebral cortical atrophy 32 HP:0002120
13 cerebellar atrophy 32 HP:0001272
14 hypoplasia of the corpus callosum 32 HP:0002079
15 atrophy/degeneration affecting the brainstem 32 HP:0007366
16 progressive microcephaly 32 HP:0000253

Symptoms via clinical synopsis from OMIM:

57
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 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...

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

# Title Authors PMID Year
1
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. 8 71
28397838 2018
2
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. 8 71
28626029 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 GRCh37 Pos GRCh38 Pos
1 TRAPPC6B NM_177452.4(TRAPPC6B): c.150-2A> G single nucleotide variant Pathogenic rs1347223331 14:39627608-39627608 14:39158404-39158404
2 TRAPPC6B NM_177452.4(TRAPPC6B): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs377626365 14:39628712-39628712 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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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