NEDBA
MCID: NRD067
MIFTS: 24

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 56 73 6
Nedba 56 73 6

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation


HPO:

31
neurodevelopmental disorder with or without variable brain abnormalities:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



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

OMIM : 56 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, also known as nedba, is related to neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures. 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, and related phenotypes are microcephaly and short stature

UniProtKB/Swiss-Prot : 73 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...

Diseases related to Neurodevelopmental Disorder with or Without Variable Brain Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 11.5

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

Human phenotypes related to Neurodevelopmental Disorder with or Without Variable Brain Abnormalities:

31 (show all 37)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 short stature 31 very rare (1%) HP:0004322
3 obesity 31 very rare (1%) HP:0001513
4 autistic behavior 31 very rare (1%) HP:0000729
5 cerebral visual impairment 31 very rare (1%) HP:0100704
6 global developmental delay 31 HP:0001263
7 hypertelorism 31 HP:0000316
8 scoliosis 31 HP:0002650
9 kyphosis 31 HP:0002808
10 abnormality of the dentition 31 HP:0000164
11 anteverted nares 31 HP:0000463
12 spasticity 31 HP:0001257
13 ataxia 31 HP:0001251
14 strabismus 31 HP:0000486
15 narrow mouth 31 HP:0000160
16 low-set ears 31 HP:0000369
17 upslanted palpebral fissure 31 HP:0000582
18 clinodactyly of the 5th finger 31 HP:0004209
19 thin upper lip vermilion 31 HP:0000219
20 long philtrum 31 HP:0000343
21 deeply set eye 31 HP:0000490
22 prominent nasal bridge 31 HP:0000426
23 short philtrum 31 HP:0000322
24 round face 31 HP:0000311
25 small hand 31 HP:0200055
26 cerebellar hypoplasia 31 HP:0001321
27 short foot 31 HP:0001773
28 hypoplasia of the corpus callosum 31 HP:0002079
29 cerebral atrophy 31 HP:0002059
30 generalized hypotonia 31 HP:0001290
31 unsteady gait 31 HP:0002317
32 slender finger 31 HP:0001238
33 inability to walk 31 HP:0002540
34 delayed myelination 31 HP:0012448
35 perisylvian polymicrogyria 31 HP:0012650
36 delayed ability to walk 31 HP:0031936
37 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
spasticity
ataxia
cerebellar hypoplasia
cerebral atrophy
more
Skeletal Spine:
scoliosis
kyphosis

Head And Neck Ears:
low-set ears

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

Head And Neck Nose:
anteverted nares
prominent nasal bridge
high nasal bridge

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:

40
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. 56 6
30945334 2019
2
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. 6 56
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 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAPK8IP3 NM_015133.5(MAPK8IP3):c.1732C>T (p.Arg578Cys)SNV Pathogenic/Likely pathogenic 632564 rs1567203083 16:1812844-1812844 16:1762843-1762843
2 MAPK8IP3 NM_015133.5(MAPK8IP3):c.3436C>T (p.Arg1146Cys)SNV Likely pathogenic 632565 rs1567214097 16:1817835-1817835 16:1767834-1767834
3 MAPK8IP3 NM_015133.5(MAPK8IP3):c.111C>G (p.Tyr37Ter)SNV Likely pathogenic 598741 rs770703007 16:1756451-1756451 16:1706450-1706450
4 MAPK8IP3 NM_015133.5(MAPK8IP3):c.65del (p.Gly22fs)deletion Likely pathogenic 632561 rs1567128142 16:1756404-1756404 16:1706403-1706403
5 MAPK8IP3 NM_015133.5(MAPK8IP3):c.1331T>C (p.Leu444Pro)SNV Likely pathogenic 632563 rs1567198751 16:1810410-1810410 16:1760409-1760409
6 MAPK8IP3 NM_015133.5(MAPK8IP3):c.79G>T (p.Glu27Ter)SNV Likely pathogenic 805861 16:1756419-1756419 16:1706418-1706418
7 MAPK8IP3 NM_001318852.2(MAPK8IP3):c.281A>G (p.Tyr94Cys)SNV Likely pathogenic 916590 16:1756621-1756621 16:1706620-1706620
8 MAPK8IP3 NM_001318852.2(MAPK8IP3):c.1385A>G (p.Glu462Gly)SNV Likely pathogenic 916591 16:1810461-1810461 16:1760460-1760460
9 MAPK8IP3 NM_015133.5(MAPK8IP3):c.1198G>A (p.Gly400Arg)SNV Conflicting interpretations of pathogenicity 805862 16:1798706-1798706 16:1748705-1748705
10 MAPK8IP3 NM_015133.5(MAPK8IP3):c.1574G>A (p.Arg525Gln)SNV Conflicting interpretations of pathogenicity 805863 16:1812389-1812389 16:1762388-1762388
11 MAPK8IP3 NM_015133.5(MAPK8IP3):c.2982C>G (p.His994Gln)SNV Conflicting interpretations of pathogenicity 805864 16:1816769-1816769 16:1766768-1766768
12 MAPK8IP3 NM_001318852.2(MAPK8IP3):c.3668A>G (p.Tyr1223Cys)SNV Uncertain significance 828101 16:1818305-1818305 16:1768304-1768304
13 MAPK8IP3 NM_015133.5(MAPK8IP3):c.1662G>A (p.Met554Ile)SNV Uncertain significance 803145 16:1812477-1812477 16:1762476-1762476

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with or Without Variable Brain Abnormalities:

73
# Symbol AA change Variation ID SNP ID
1 MAPK8IP3 p.Leu444Pro VAR_082611
2 MAPK8IP3 p.Arg578Cys VAR_082613
3 MAPK8IP3 p.Arg1146Cys VAR_082615

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 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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