NEDBA
MCID: NRD067
MIFTS: 19

Neurodevelopmental Disorder with or Without Variable Brain Abnormalities (NEDBA)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with or Without Variable Brain...

MalaCards integrated aliases for Neurodevelopmental Disorder with or Without Variable Brain Abnormalities:

Name: Neurodevelopmental Disorder with or Without Variable Brain Abnormalities 57 74 6
Nedba 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation


Classifications:



External Ids:

OMIM 57 618443
MeSH 44 D065886
MedGen 42 CN258765

Summaries for Neurodevelopmental Disorder with or Without Variable Brain...

OMIM : 57 Neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) is characterized by global developmental delay apparent from infancy or early childhood, resulting in mildly delayed walking, variably impaired intellectual development, and poor or absent speech. Additional features may include hypotonia, spasticity, or ataxia. About half of patients have abnormal findings on brain imaging, including cerebral or cerebellar atrophy, loss of white matter volume, thin corpus callosum, and perisylvian polymicrogyria. Seizures are not a prominent finding, and although some patients may have nonspecific dysmorphic facial features, there is no common or consistent gestalt (summary by Platzer et al., 2019). (618443)

MalaCards based summary : Neurodevelopmental Disorder with or Without Variable Brain Abnormalities, is also known as nedba. An important gene associated with Neurodevelopmental Disorder with or Without Variable Brain Abnormalities is MAPK8IP3 (Mitogen-Activated Protein Kinase 8 Interacting Protein 3). Affiliated tissues include brain and eye.

UniProtKB/Swiss-Prot : 74 Neurodevelopmental disorder with or without variable brain abnormalities: A disorder characterized by global developmental delay, impaired intellectual development, delayed walking, poor or absent speech, and variable brain anomalies including perisylvian polymicrogyria, cerebral or cerebellar atrophy, and hypoplasia of the corpus callosum.

Related Diseases for Neurodevelopmental Disorder with or Without Variable Brain...

Symptoms & Phenotypes for Neurodevelopmental Disorder with or Without Variable Brain...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
deep-set eyes
upslanting palpebral fissures
cortical visual impairment (in some patients)

Neurologic Central Nervous System:
ataxia
spasticity
global developmental delay
inability to walk
cerebellar hypoplasia
more
Head And Neck Nose:
anteverted nares
prominent nasal bridge
high nasal bridge

Head And Neck Mouth:
thin upper lip
small mouth

Skeletal Hands:
fifth finger clinodactyly
small hands
thin fingers

Growth Height:
short stature (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities (in some patients)
autism spectrum disorder (in some patients)

Head And Neck Head:
small head circumference (in some patients)

Head And Neck Ears:
low-set ears

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Face:
long philtrum
short philtrum
round face
dysmorphic facial features, nonspecific (in some patients)

Muscle Soft Tissue:
hypotonia

Skeletal Feet:
foot deformities
small feet

Head And Neck Teeth:
abnormal teeth

Growth Weight:
obesity (in some patients)

Neurologic Peripheral Nervous System:
neurogenic pattern seen on emg
loss of myelinated fibers seen on sural nerve biopsy (1 patient)
axonal neuropathy seen on nerve conduction studies

Clinical features from OMIM:

618443

Drugs & Therapeutics for Neurodevelopmental Disorder with or Without Variable Brain...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with or Without Variable Brain Abnormalities

Genetic Tests for Neurodevelopmental Disorder with or Without Variable Brain...

Anatomical Context for Neurodevelopmental Disorder with or Without Variable Brain...

MalaCards organs/tissues related to Neurodevelopmental Disorder with or Without Variable Brain Abnormalities:

41
Brain, Eye

Publications for Neurodevelopmental Disorder with or Without Variable Brain...

Articles related to Neurodevelopmental Disorder with or Without Variable Brain Abnormalities:

# Title Authors PMID Year
1
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes. 8 71
30945334 2019
2
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. 8 71
30612693 2019

Variations for Neurodevelopmental Disorder with or Without Variable Brain...

ClinVar genetic disease variations for Neurodevelopmental Disorder with or Without Variable Brain Abnormalities:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MAPK8IP3 NM_015133.5(MAPK8IP3): c.65del (p.Gly22fs) deletion Pathogenic 16:1756405-1756405 16:1706404-1706404
2 MAPK8IP3 NM_015133.5(MAPK8IP3): c.1331T> C (p.Leu444Pro) single nucleotide variant Pathogenic 16:1810410-1810410 16:1760409-1760409
3 MAPK8IP3 NM_015133.5(MAPK8IP3): c.1732C> T (p.Arg578Cys) single nucleotide variant Pathogenic 16:1812844-1812844 16:1762843-1762843
4 MAPK8IP3 NM_015133.5(MAPK8IP3): c.3436C> T (p.Arg1146Cys) single nucleotide variant Pathogenic 16:1817835-1817835 16:1767834-1767834
5 MAPK8IP3 NM_015133.5(MAPK8IP3): c.111C> G (p.Tyr37Ter) single nucleotide variant Likely pathogenic 16:1756451-1756451 16:1706450-1706450

Expression for Neurodevelopmental Disorder with or Without Variable Brain...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with or Without Variable Brain Abnormalities.

Pathways for Neurodevelopmental Disorder with or Without Variable Brain...

GO Terms for Neurodevelopmental Disorder with or Without Variable Brain...

Sources for Neurodevelopmental Disorder with or Without Variable Brain...

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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