MCID: NRD029
MIFTS: 18

Neurodevelopmental Disorder with Involuntary Movements

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 75 29 6
Nedim 57 75

Characteristics:

OMIM:

57
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:



External Ids:

OMIM 57 617493
MeSH 44 D065886

Summaries for Neurodevelopmental Disorder with Involuntary Movements

UniProtKB/Swiss-Prot : 75 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.

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)

Related Diseases for Neurodevelopmental Disorder with Involuntary Movements

Symptoms & Phenotypes for Neurodevelopmental Disorder with Involuntary Movements

Symptoms via clinical synopsis from OMIM:

57
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 29 GNAO1

Anatomical Context for Neurodevelopmental Disorder with Involuntary Movements

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

41
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:

75
# 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
8 GNAO1 p.Arg209His VAR_079281 rs797044878
9 GNAO1 p.Arg209Leu VAR_079282
10 GNAO1 p.Glu246Gly VAR_079283

ClinVar genetic disease variations for Neurodevelopmental Disorder with Involuntary Movements:

6
(show all 12)
# 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/Likely pathogenic rs886039494 GRCh37 Chromosome 16, 56370674: 56370674
6 GNAO1 NM_020988.2(GNAO1): c.625C> T (p.Arg209Cys) single nucleotide variant Pathogenic/Likely 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 GRCh37 Chromosome 16, 56370711: 56370711
12 GNAO1 NM_020988.2(GNAO1): c.662C> A (p.Ala221Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 16, 56336799: 56336799

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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71 TGDB
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74 UMLS via Orphanet
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