NEDMEBA
MCID: NRD042
MIFTS: 19

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 56 73 29 6
Nedmeba 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early infancy


HPO:

31
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



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

UniProtKB/Swiss-Prot : 73 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 seizures and hyperreflexia

OMIM : 56 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:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 hyperreflexia 31 HP:0001347
3 nystagmus 31 HP:0000639
4 ataxia 31 HP:0001251
5 tremor 31 HP:0001337
6 global developmental delay 31 HP:0001263
7 short stature 31 HP:0004322
8 cerebral cortical atrophy 31 HP:0002120
9 stereotypy 31 HP:0000733
10 intellectual disability, severe 31 HP:0010864
11 generalized hypotonia 31 HP:0001290
12 strabismus 31 HP:0000486
13 ventriculomegaly 31 HP:0002119
14 hypoplasia of the corpus callosum 31 HP:0002079
15 cerebellar atrophy 31 HP:0001272
16 atrophy/degeneration affecting the brainstem 31 HP:0007366
17 progressive microcephaly 31 HP:0000253

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
ataxia
tremor
global developmental delay
intellectual disability, severe
more
Muscle Soft Tissue:
hypotonia

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

Head And Neck Eyes:
nystagmus
strabismus

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:

40
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. 56 6
28397838 2018
2
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. 56 6
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRAPPC6B NM_001079537.2(TRAPPC6B):c.150-2A>GSNV Pathogenic 488423 rs1347223331 14:39627608-39627608 14:39158404-39158404
2 TRAPPC6B NM_001079537.2(TRAPPC6B):c.124C>T (p.Arg42Ter)SNV Pathogenic 488424 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 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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