NEDBA
MCID: NRD067
MIFTS: 23

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 72 6
Nedba 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® : 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) (Updated 05-Apr-2021)

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, and related phenotypes are microcephaly and short stature

UniProtKB/Swiss-Prot : 72 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...

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

31 (showing 37, show less)
# 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 spasticity 31 HP:0001257
7 scoliosis 31 HP:0002650
8 ataxia 31 HP:0001251
9 kyphosis 31 HP:0002808
10 global developmental delay 31 HP:0001263
11 hypertelorism 31 HP:0000316
12 abnormality of the dentition 31 HP:0000164
13 anteverted nares 31 HP:0000463
14 strabismus 31 HP:0000486
15 low-set ears 31 HP:0000369
16 narrow mouth 31 HP:0000160
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®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
ataxia
global developmental delay
cerebellar hypoplasia
cerebral atrophy
more
Head And Neck Eyes:
hypertelorism
strabismus
deep-set eyes
upslanting palpebral fissures
cortical visual impairment (in some patients)

Head And Neck Ears:
low-set ears

Muscle Soft Tissue:
hypotonia

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)

Skeletal Spine:
scoliosis
kyphosis

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)

Head And Neck Mouth:
thin upper lip
small mouth

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 (Updated 05-Apr-2021)

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:

(showing 2, show less)
# Title Authors PMID Year
1
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes. 57 6
30945334 2019
2
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. 6 57
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 (showing 18, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAPK8IP3 NM_015133.5(MAPK8IP3):c.3436C>T (p.Arg1146Cys) SNV Pathogenic/Likely pathogenic 632565 rs1567214097 GRCh37: 16:1817835-1817835
GRCh38: 16:1767834-1767834
2 MAPK8IP3 NM_015133.5(MAPK8IP3):c.1732C>T (p.Arg578Cys) SNV Pathogenic/Likely pathogenic 632564 rs1567203083 GRCh37: 16:1812844-1812844
GRCh38: 16:1762843-1762843
3 MAPK8IP3 NM_015133.5(MAPK8IP3):c.65del (p.Gly22fs) Deletion Likely pathogenic 632561 rs1567128142 GRCh37: 16:1756404-1756404
GRCh38: 16:1706403-1706403
4 MAPK8IP3 NM_015133.5(MAPK8IP3):c.111C>G (p.Tyr37Ter) SNV Likely pathogenic 598741 rs770703007 GRCh37: 16:1756451-1756451
GRCh38: 16:1706450-1706450
5 MAPK8IP3 NM_015133.5(MAPK8IP3):c.1331T>C (p.Leu444Pro) SNV Likely pathogenic 632563 rs1567198751 GRCh37: 16:1810410-1810410
GRCh38: 16:1760409-1760409
6 MAPK8IP3 NM_015133.5(MAPK8IP3):c.79G>T (p.Glu27Ter) SNV Likely pathogenic 805861 rs1479142047 GRCh37: 16:1756419-1756419
GRCh38: 16:1706418-1706418
7 MAPK8IP3 NM_001318852.2(MAPK8IP3):c.281A>G (p.Tyr94Cys) SNV Likely pathogenic 916590 GRCh37: 16:1756621-1756621
GRCh38: 16:1706620-1706620
8 MAPK8IP3 NM_001318852.2(MAPK8IP3):c.1385A>G (p.Glu462Gly) SNV Likely pathogenic 916591 GRCh37: 16:1810461-1810461
GRCh38: 16:1760460-1760460
9 MAPK8IP3 NM_015133.5(MAPK8IP3):c.1198G>A (p.Gly400Arg) SNV Conflicting interpretations of pathogenicity 805862 rs1596711175 GRCh37: 16:1798706-1798706
GRCh38: 16:1748705-1748705
10 MAPK8IP3 NM_015133.5(MAPK8IP3):c.1574G>A (p.Arg525Gln) SNV Conflicting interpretations of pathogenicity 805863 rs1596780112 GRCh37: 16:1812389-1812389
GRCh38: 16:1762388-1762388
11 MAPK8IP3 NM_015133.5(MAPK8IP3):c.2982C>G (p.His994Gln) SNV Conflicting interpretations of pathogenicity 805864 rs1163583945 GRCh37: 16:1816769-1816769
GRCh38: 16:1766768-1766768
12 MAPK8IP3 NM_001318852.2(MAPK8IP3):c.3668A>G (p.Tyr1223Cys) SNV Uncertain significance 828101 rs1596818779 GRCh37: 16:1818305-1818305
GRCh38: 16:1768304-1768304
13 MAPK8IP3 NM_001318852.2(MAPK8IP3):c.3461C>G (p.Ala1154Gly) SNV Uncertain significance 930955 GRCh37: 16:1817857-1817857
GRCh38: 16:1767856-1767856
14 MAPK8IP3 NM_001318852.2(MAPK8IP3):c.2819+1G>A SNV Uncertain significance 931019 GRCh37: 16:1816411-1816411
GRCh38: 16:1766410-1766410
15 MAPK8IP3 NM_001318852.2(MAPK8IP3):c.1873C>T (p.Arg625Trp) SNV Uncertain significance 931199 GRCh37: 16:1812982-1812982
GRCh38: 16:1762981-1762981
16 MAPK8IP3 NM_015133.5(MAPK8IP3):c.1662G>A (p.Met554Ile) SNV Uncertain significance 803145 rs1596780602 GRCh37: 16:1812477-1812477
GRCh38: 16:1762476-1762476
17 MAPK8IP3 NM_001318852.2(MAPK8IP3):c.1012G>A (p.Glu338Lys) SNV Uncertain significance 1028985 GRCh37: 16:1798262-1798262
GRCh38: 16:1748261-1748261
18 MAPK8IP3 NM_001318852.2(MAPK8IP3):c.685C>T (p.Pro229Ser) SNV Uncertain significance 1028986 GRCh37: 16:1793415-1793415
GRCh38: 16:1743414-1743414

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

72 (showing 3, show less)
# Symbol AA change Variation ID SNP ID
1 MAPK8IP3 p.Leu444Pro VAR_082611 rs156719875
2 MAPK8IP3 p.Arg578Cys VAR_082613 rs156720308
3 MAPK8IP3 p.Arg1146Cys VAR_082615 rs156721409

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....