NEDIM
MCID: NRD029
MIFTS: 25

Neurodevelopmental Disorder with Involuntary Movements (NEDIM)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Involuntary Movements

MalaCards integrated aliases for Neurodevelopmental Disorder with Involuntary Movements:

Name: Neurodevelopmental Disorder with Involuntary Movements 57 72 29 6
Nedim 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset of involuntary movements occurs in early childhood
exacerbations of choreoathetosis can be triggered by illness, stress, emotions, high temperature
good response of abnormal movements to deep brain stimulation


HPO:

31
neurodevelopmental disorder with involuntary movements:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neurodevelopmental Disorder with Involuntary Movements

UniProtKB/Swiss-Prot : 72 Neurodevelopmental disorder with involuntary movements: A neurodevelopmental disorder manifesting with a wide range of clinical symptoms. Clinical features range from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior and epileptic encephalopathy, to a milder phenotype featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia, and mild epilepsy. Hyperkinetic movements are often exacerbated by specific triggers, such as illness, emotion and high ambient temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum.

MalaCards based summary : Neurodevelopmental Disorder with Involuntary Movements, is also known as nedim. An important gene associated with Neurodevelopmental Disorder with Involuntary Movements is GNAO1 (G Protein Subunit Alpha O1). Affiliated tissues include brain and caudate nucleus, and related phenotypes are microcephaly and seizure

OMIM® : 57 NEDIM is a neurodevelopmental and neurodegenerative disorder characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis. The abnormal movements can be severe, sometimes resulting in inability to sit, walk, speak, or eat. Hyperkinetic movements can be exacerbated by specific triggers, such as stress, illness, or high temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum, and some patients may develop seizures (summary by Ananth et al., 2016 and Danti et al., 2017). (617493) (Updated 20-May-2021)

Related Diseases for Neurodevelopmental Disorder with Involuntary Movements

Symptoms & Phenotypes for Neurodevelopmental Disorder with Involuntary Movements

Human phenotypes related to Neurodevelopmental Disorder with Involuntary Movements:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 seizure 31 very rare (1%) HP:0001250
3 intellectual disability 31 HP:0001249
4 spasticity 31 HP:0001257
5 dysphagia 31 HP:0002015
6 chorea 31 HP:0002072
7 self-injurious behavior 31 HP:0100716
8 global developmental delay 31 HP:0001263
9 absent speech 31 HP:0001344
10 ventriculomegaly 31 HP:0002119
11 dystonia 31 HP:0001332
12 hypoplasia of the corpus callosum 31 HP:0002079
13 poor head control 31 HP:0002421
14 cerebral atrophy 31 HP:0002059
15 athetosis 31 HP:0002305
16 generalized hypotonia 31 HP:0001290
17 orofacial dyskinesia 31 HP:0002310
18 hyperkinetic movements 31 HP:0002487

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
spasticity
chorea
dyskinesia
dystonia
more
Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior

Head And Neck Face:
orofacial dyskinesia

Abdomen Gastrointestinal:
dysphagia

Head And Neck Head:
poor head control
microcephaly (in some patients)

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM®:

617493 (Updated 20-May-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Involuntary Movements

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Involuntary Movements

Genetic Tests for Neurodevelopmental Disorder with Involuntary Movements

Genetic tests related to Neurodevelopmental Disorder with Involuntary Movements:

# Genetic test Affiliating Genes
1 Neurodevelopmental Disorder with Involuntary Movements 29 GNAO1

Anatomical Context for Neurodevelopmental Disorder with Involuntary Movements

MalaCards organs/tissues related to Neurodevelopmental Disorder with Involuntary Movements:

40
Brain, Caudate Nucleus

Publications for Neurodevelopmental Disorder with Involuntary Movements

Articles related to Neurodevelopmental Disorder with Involuntary Movements:

(show all 12)
# Title Authors PMID Year
1
A case of severe movement disorder with GNAO1 mutation responsive to topiramate. 57 6
27916449 2017
2
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. 57 6
28357411 2017
3
Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder. 57 6
27625011 2016
4
Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder. 6 57
27068059 2016
5
Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation. 6 57
26060304 2016
6
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. 57 6
25966631 2016
7
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders. 6
28688840 2017
8
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 6
27864847 2017
9
Mice with GNAO1 R209H Movement Disorder Variant Display Hyperlocomotion Alleviated by Risperidone. 61
31907305 2020
10
Mouse models of GNAO1-associated movement disorder: Allele- and sex-specific differences in phenotypes. 61
30682176 2019
11
A mechanistic review on GNAO1-associated movement disorder. 61
29758257 2018
12
[Erratum: An unnoticed origin of fever: Periapical tooth abscess - Three case reports and literature review]. 61
28603243 2017

Variations for Neurodevelopmental Disorder with Involuntary Movements

ClinVar genetic disease variations for Neurodevelopmental Disorder with Involuntary Movements:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNAO1 NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys) SNV Pathogenic 265350 rs886039494 GRCh37: 16:56370674-56370674
GRCh38: 16:56336762-56336762
2 GNAO1 NM_020988.3(GNAO1):c.625C>G (p.Arg209Gly) SNV Pathogenic 427726 rs886039494 GRCh37: 16:56370674-56370674
GRCh38: 16:56336762-56336762
3 GNAO1 NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys) SNV Pathogenic 208777 rs797044951 GRCh37: 16:56385308-56385308
GRCh38: 16:56351396-56351396
4 GNAO1 NM_020988.3(GNAO1):c.626G>A (p.Arg209His) SNV Pathogenic 208677 rs797044878 GRCh37: 16:56370675-56370675
GRCh38: 16:56336763-56336763
5 GNAO1 NM_020988.3(GNAO1):c.737A>G (p.Glu246Gly) SNV Pathogenic 427730 rs1114167431 GRCh37: 16:56385309-56385309
GRCh38: 16:56351397-56351397
6 GNAO1 NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg) SNV Pathogenic 66115 GRCh37: 16:56370656-56370656
GRCh38: 16:56336744-56336744
7 GNAO1 NM_020988.3(GNAO1):c.680C>T (p.Ala227Val) SNV Pathogenic 211088 GRCh37: 16:56370729-56370729
GRCh38: 16:56336817-56336817
8 GNAO1 NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys) SNV Likely pathogenic 420523 rs1064794533 GRCh37: 16:56370758-56370758
GRCh38: 16:56336846-56336846
9 GNAO1 NM_020988.3(GNAO1):c.736G>C (p.Glu246Gln) SNV Likely pathogenic 689763 rs797044951 GRCh37: 16:56385308-56385308
GRCh38: 16:56351396-56351396
10 GNAO1 NM_020988.3(GNAO1):c.724-8G>A SNV Likely pathogenic 426965 rs1085307876 GRCh37: 16:56385288-56385288
GRCh38: 16:56351376-56351376
11 GNAO1 NM_020988.3(GNAO1):c.662C>A (p.Ala221Asp) SNV Likely pathogenic 522843 rs1555507479 GRCh37: 16:56370711-56370711
GRCh38: 16:56336799-56336799
12 GNAO1 NM_020988.3(GNAO1):c.119G>T (p.Gly40Val) SNV Likely pathogenic 587482 rs886041766 GRCh37: 16:56226486-56226486
GRCh38: 16:56192574-56192574
13 GNAO1 NM_020988.3(GNAO1):c.604G>A (p.Val202Ile) SNV Uncertain significance 545591 rs1297388989 GRCh37: 16:56370653-56370653
GRCh38: 16:56336741-56336741

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Involuntary Movements:

72
# Symbol AA change Variation ID SNP ID
1 GNAO1 p.Gly40Arg VAR_075416 rs886041715
2 GNAO1 p.Arg209Cys VAR_077337 rs886039494
3 GNAO1 p.Ala227Val VAR_077338 rs797045599
4 GNAO1 p.Glu246Lys VAR_077339 rs797044951
5 GNAO1 p.Ser47Gly VAR_079278
6 GNAO1 p.Ile56Thr VAR_079279
7 GNAO1 p.Arg209Gly VAR_079280 rs886039494
8 GNAO1 p.Arg209His VAR_079281 rs797044878
9 GNAO1 p.Arg209Leu VAR_079282
10 GNAO1 p.Glu246Gly VAR_079283 rs111416743

Expression for Neurodevelopmental Disorder with Involuntary Movements

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Involuntary Movements.

Pathways for Neurodevelopmental Disorder with Involuntary Movements

GO Terms for Neurodevelopmental Disorder with Involuntary Movements

Sources for Neurodevelopmental Disorder with Involuntary Movements

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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