NEDESBA
MCID: NRD093
MIFTS: 18

Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy (NEDESBA)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain...

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

Name: Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy 56 73 6
Nedesba 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
death in childhood may occur
onset soon after birth
onset of seizures in the first year of life
three unrelated families have been reported (last curated january, 2020)


HPO:

31
neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain...

OMIM : 56 Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (NEDESBA) is an autosomal recessive disorder characterized by severely impaired global development apparent soon after birth. Affected individuals develop seizures in the first year of life and achieve almost no psychomotor progress, resulting in feeding difficulties and an inability to walk or speak. Other features include hypotonia, peripheral spasticity with contractures, cortical visual impairment, and dysmorphic features, including microcephaly. Death in childhood may occur (summary by Van Bergen et al., 2020). Van Bergen et al. (2020) noted that the molecular mechanism of this disorder can be classified into a group of similar phenotypes resulting from mutations in genes associated with transport protein particles, sometimes referred to as 'TRAPPopathies' (review by Sacher et al., 2019). (618741)

MalaCards based summary : Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy, is also known as nedesba. An important gene associated with Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy is TRAPPC4 (Trafficking Protein Particle Complex 4). Affiliated tissues include brain, and related phenotypes are global developmental delay and microcephaly

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy: An autosomal recessive disorder characterized by severely impaired global development apparent soon after birth, early-onset seizures, lack of psychomotor development, spastic quadriparesis, progressive cortical and cerebellar atrophy, and dysmorphic features, including microcephaly. Death in childhood may occur.

Related Diseases for Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain...

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

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 microcephaly 31 very rare (1%) HP:0000252
3 sensorineural hearing impairment 31 very rare (1%) HP:0000407
4 intellectual disability, profound 31 very rare (1%) HP:0002187
5 seizure 31 very rare (1%) HP:0001250
6 scoliosis 31 HP:0002650
7 feeding difficulties in infancy 31 HP:0008872
8 long philtrum 31 HP:0000343
9 cerebellar atrophy 31 HP:0001272
10 spastic tetraparesis 31 HP:0001285
11 brain atrophy 31 HP:0012444
12 narrow forehead 31 HP:0000341

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Head And Neck Face:
full cheeks
long philtrum
pointed chin
bitemporal narrowing

Skeletal Pelvis:
congenital hip dislocation

Head And Neck Nose:
prominent nose

Skeletal:
contractures

Muscle Soft Tissue:
hypotonia, axial

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

Neurologic Central Nervous System:
spasticity
absent speech
cerebellar atrophy
inability to walk
cortical atrophy
more
Head And Neck Eyes:
nystagmus
poor tracking
cortical visual blindness

Head And Neck Mouth:
wide mouth
open mouth
thin upper lip
tented lip

Abdomen Gastrointestinal:
poor feeding
tube feeding

Head And Neck Ears:
sensorineural hearing loss (in some patients)

Head And Neck Teeth:
abnormal dentition (in some patients)

Clinical features from OMIM:

618741

Drugs & Therapeutics for Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain...

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

Genetic Tests for Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain...

Anatomical Context for Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain...

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

40
Brain

Publications for Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain...

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

# Title Authors PMID Year
1
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 56
31794024 2020
2
TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)-associated proteins. 56
30152084 2019

Variations for Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain...

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRAPPC4 NM_016146.6(TRAPPC4):c.454+3A>GSNV Pathogenic 812649 rs375776811 11:118890966-118890966 11:119020256-119020256
2 TRAPPC4 NM_016146.6(TRAPPC4):c.638_*4del (p.Gly213_Ter220delinsXaa)deletion Likely pathogenic 916549 11:118894081-118894107 11:119023371-119023397

Expression for Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain...

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

Pathways for Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain...

GO Terms for Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain...

Sources for Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain...

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
Content
Loading form....