NEDIM
MCID: NRD029
MIFTS: 21

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 58 76 30 6
Nedim 58 76

Characteristics:

OMIM:

58
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


Classifications:



Summaries for Neurodevelopmental Disorder with Involuntary Movements

UniProtKB/Swiss-Prot : 76 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, also known as nedim, is related to baker-gordon syndrome. 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 seizures and microcephaly

OMIM : 58 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)

Related Diseases for Neurodevelopmental Disorder with Involuntary Movements

Diseases related to Neurodevelopmental Disorder with Involuntary Movements via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 baker-gordon syndrome 11.7

Symptoms & Phenotypes for Neurodevelopmental Disorder with Involuntary Movements

Human phenotypes related to Neurodevelopmental Disorder with Involuntary Movements:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 microcephaly 33 very rare (1%) HP:0000252
3 intellectual disability 33 HP:0001249
4 spasticity 33 HP:0001257
5 chorea 33 HP:0002072
6 global developmental delay 33 HP:0001263
7 dyskinesia 33 HP:0100660
8 absent speech 33 HP:0001344
9 dystonia 33 HP:0001332
10 ventriculomegaly 33 HP:0002119
11 hypoplasia of the corpus callosum 33 HP:0002079
12 cerebral atrophy 33 HP:0002059
13 athetosis 33 HP:0002305
14 hyperkinesis 33 HP:0002487
15 poor head control 33 HP:0002421

Symptoms via clinical synopsis from OMIM:

58
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

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 30 GNAO1

Anatomical Context for Neurodevelopmental Disorder with Involuntary Movements

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

42
Brain, Caudate Nucleus

Publications for Neurodevelopmental Disorder with Involuntary Movements

Variations for Neurodevelopmental Disorder with Involuntary Movements

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

76
# 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

ClinVar genetic disease variations for Neurodevelopmental Disorder with Involuntary Movements:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAO1 NM_138736.2(GNAO1): c.626G> A (p.Arg209His) single nucleotide variant Conflicting interpretations of pathogenicity rs797044878 GRCh37 Chromosome 16, 56370675: 56370675
2 GNAO1 NM_138736.2(GNAO1): c.626G> A (p.Arg209His) single nucleotide variant Conflicting interpretations of pathogenicity rs797044878 GRCh38 Chromosome 16, 56336763: 56336763
3 GNAO1 NM_020988.2(GNAO1): c.736G> A (p.Glu246Lys) single nucleotide variant Pathogenic rs797044951 GRCh37 Chromosome 16, 56385308: 56385308
4 GNAO1 NM_020988.2(GNAO1): c.736G> A (p.Glu246Lys) single nucleotide variant Pathogenic rs797044951 GRCh38 Chromosome 16, 56351396: 56351396
5 GNAO1 NM_020988.2(GNAO1): c.625C> T (p.Arg209Cys) single nucleotide variant Pathogenic rs886039494 GRCh37 Chromosome 16, 56370674: 56370674
6 GNAO1 NM_020988.2(GNAO1): c.625C> T (p.Arg209Cys) single nucleotide variant Pathogenic rs886039494 GRCh38 Chromosome 16, 56336762: 56336762
7 GNAO1 NM_020988.2(GNAO1): c.625C> G (p.Arg209Gly) single nucleotide variant Pathogenic rs886039494 GRCh38 Chromosome 16, 56336762: 56336762
8 GNAO1 NM_020988.2(GNAO1): c.625C> G (p.Arg209Gly) single nucleotide variant Pathogenic rs886039494 GRCh37 Chromosome 16, 56370674: 56370674
9 GNAO1 NM_020988.2(GNAO1): c.737A> G (p.Glu246Gly) single nucleotide variant Pathogenic rs1114167431 GRCh37 Chromosome 16, 56385309: 56385309
10 GNAO1 NM_020988.2(GNAO1): c.737A> G (p.Glu246Gly) single nucleotide variant Pathogenic rs1114167431 GRCh38 Chromosome 16, 56351397: 56351397
11 GNAO1 NM_020988.2(GNAO1): c.662C> A (p.Ala221Asp) single nucleotide variant Likely pathogenic rs1555507479 GRCh37 Chromosome 16, 56370711: 56370711
12 GNAO1 NM_020988.2(GNAO1): c.662C> A (p.Ala221Asp) single nucleotide variant Likely pathogenic rs1555507479 GRCh38 Chromosome 16, 56336799: 56336799
13 GNAO1 NM_020988.2(GNAO1): c.604G> A (p.Val202Ile) single nucleotide variant Uncertain significance rs1297388989 GRCh37 Chromosome 16, 56370653: 56370653
14 GNAO1 NM_020988.2(GNAO1): c.604G> A (p.Val202Ile) single nucleotide variant Uncertain significance rs1297388989 GRCh38 Chromosome 16, 56336741: 56336741
15 GNAO1 NM_138736.2(GNAO1): c.119G> T (p.Gly40Val) single nucleotide variant Likely pathogenic GRCh37 Chromosome 16, 56226486: 56226486
16 GNAO1 NM_138736.2(GNAO1): c.119G> T (p.Gly40Val) single nucleotide variant Likely pathogenic GRCh38 Chromosome 16, 56192574: 56192574

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

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75 UMLS via Orphanet
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