Dyskinesia, Limb and Orofacial, Infantile-Onset disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Dyskinesia, Limb and Orofacial, Infantile-Onset

MalaCards integrated aliases for Dyskinesia, Limb and Orofacial, Infantile-Onset:

Name: Dyskinesia, Limb and Orofacial, Infantile-Onset ⁵⁸ ⁷⁶ ³⁰ ⁶ ⁴¹

Iolod ⁵⁸ ⁷⁶

Infantile-Onset Generalized Dyskinesia with Orofacial Involvement ⁶⁰

Infantile-Onset Orofacial-Trunk-Limbs Dyskinesia ⁶⁰

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
two unrelated families have been reported (last curated april 2016)

HPO:

³³

dyskinesia, limb and orofacial, infantile-onset:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Rare neurological diseases

External Ids:

OMIM ⁵⁸ 616921

MeSH ⁴⁵ D020820

Orphanet ⁶⁰ ORPHA494526

MedGen ⁴³ C4310792 CN236398

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Summaries for Dyskinesia, Limb and Orofacial, Infantile-Onset

OMIM : ⁵⁸ Infantile-onset limb and orofacial dyskinesia is an autosomal recessive neurologic disorder characterized by delayed motor development and onset of a hyperkinetic movement disorder in the first year of life. The disorder results in impaired walking and orofacial dyskinesia with difficulty talking; the severity is variable (summary by Diggle et al., 2016). (616921)

MalaCards based summary : Dyskinesia, Limb and Orofacial, Infantile-Onset, is also known as iolod. An important gene associated with Dyskinesia, Limb and Orofacial, Infantile-Onset is PDE10A (Phosphodiesterase 10A). Affiliated tissues include brain, and related phenotypes are orofacial dyskinesia and dysarthria

UniProtKB/Swiss-Prot : ⁷⁶ Dyskinesia, limb and orofacial, infantile-onset: An autosomal recessive, early-onset hyperkinetic movement disorder characterized by axial hypotonia, dyskinesia of the limbs and trunk, orofacial dyskinesia, drooling, and dysarthria. The severity of the hyperkinesis is variable.

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Related Diseases for Dyskinesia, Limb and Orofacial, Infantile-Onset

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Symptoms & Phenotypes for Dyskinesia, Limb and Orofacial, Infantile-Onset

Human phenotypes related to Dyskinesia, Limb and Orofacial, Infantile-Onset:

⁶⁰ ³³ (showing 16, show less)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	orofacial dyskinesia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002310
2	dysarthria ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001260
3	chorea ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002072
4	motor delay ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001270
5	frequent falls ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002359
6	drooling ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002307
7	unsteady gait ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002317
8	muscular hypotonia of the trunk ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0008936
9	nasogastric tube feeding in infancy ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0011470
10	tremor ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001337
11	feeding difficulties ⁶⁰ ³³	occasional (7.5%)	Frequent (79-30%)	HP:0011968
12	hemiballismus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0100248
13	brain atrophy ⁶⁰		Excluded (0%)
14	seizures ³³			HP:0001250
15	dyskinesia ³³			HP:0100660
16	hyperkinesis ³³			HP:0002487

Symptoms via clinical synopsis from OMIM:

⁵⁸

Neurologic Central Nervous System:
dysarthria
chorea
frequent falls
drooling
unsteady gait
more

Abdomen Gastrointestinal:
feeding difficulties (in some patients)

Head And Neck Mouth:
drooling
orolingual dyskinesia

Clinical features from OMIM:

616921

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Drugs & Therapeutics for Dyskinesia, Limb and Orofacial, Infantile-Onset

Search Clinical Trials , NIH Clinical Center for Dyskinesia, Limb and Orofacial, Infantile-Onset

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Genetic Tests for Dyskinesia, Limb and Orofacial, Infantile-Onset

Genetic tests related to Dyskinesia, Limb and Orofacial, Infantile-Onset:

#	Genetic test	Affiliating Genes
1	Dyskinesia, Limb and Orofacial, Infantile-Onset ³⁰	PDE10A

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Anatomical Context for Dyskinesia, Limb and Orofacial, Infantile-Onset

MalaCards organs/tissues related to Dyskinesia, Limb and Orofacial, Infantile-Onset:

⁴²

Brain

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Publications for Dyskinesia, Limb and Orofacial, Infantile-Onset

Articles related to Dyskinesia, Limb and Orofacial, Infantile-Onset:

(showing 1, show less)

#	Title	Authors	Year
1	Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. ( 27058446 )	Diggle CP...Brandon NJ	2016

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Genes for Dyskinesia, Limb and Orofacial, Infantile-Onset

Genes related to Dyskinesia, Limb and Orofacial, Infantile-Onset (1 elite genes):

(showing 1, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PDE10A	Phosphodiesterase 10A	Protein Coding	1678.56	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	27058446

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Variations for Dyskinesia, Limb and Orofacial, Infantile-Onset

UniProtKB/Swiss-Prot genetic disease variations for Dyskinesia, Limb and Orofacial, Infantile-Onset:

⁷⁶ (showing 2, show less)

#	Symbol	AA change	Variation ID	SNP ID
1	PDE10A	p.Tyr97Cys	VAR_076798	rs778899140
2	PDE10A	p.Ala106Pro	VAR_076799	rs875989839

ClinVar genetic disease variations for Dyskinesia, Limb and Orofacial, Infantile-Onset:

⁶ (showing 6, show less)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PDE10A	NM_001130690.2(PDE10A): c.320A> G (p.Tyr107Cys)	single nucleotide variant	Pathogenic	rs778899140	GRCh38	Chromosome 6, 165450268: 165450268
2	PDE10A	NM_001130690.2(PDE10A): c.320A> G (p.Tyr107Cys)	single nucleotide variant	Pathogenic	rs778899140	GRCh37	Chromosome 6, 165863756: 165863756
3	PDE10A	NM_001130690.2(PDE10A): c.346G> C (p.Ala116Pro)	single nucleotide variant	Pathogenic	rs875989839	GRCh37	Chromosome 6, 165863730: 165863730
4	PDE10A	NM_001130690.2(PDE10A): c.346G> C (p.Ala116Pro)	single nucleotide variant	Pathogenic	rs875989839	GRCh38	Chromosome 6, 165450242: 165450242
5	PDE10A	NM_001130690.2(PDE10A): c.1001T> G (p.Phe334Cys)	single nucleotide variant	Likely pathogenic	rs1554258695	GRCh37	Chromosome 6, 165829767: 165829767
6	PDE10A	NM_001130690.2(PDE10A): c.1001T> G (p.Phe334Cys)	single nucleotide variant	Likely pathogenic	rs1554258695	GRCh38	Chromosome 6, 165416279: 165416279

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Expression for Dyskinesia, Limb and Orofacial, Infantile-Onset

Search GEO for disease gene expression data for Dyskinesia, Limb and Orofacial, Infantile-Onset.

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Pathways for Dyskinesia, Limb and Orofacial, Infantile-Onset

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GO Terms for Dyskinesia, Limb and Orofacial, Infantile-Onset

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⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

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⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Dyskinesia, Limb and Orofacial, Infantile-Onset (IOLOD)

Aliases & Classifications for Dyskinesia, Limb and Orofacial, Infantile-Onset

MalaCards integrated aliases for Dyskinesia, Limb and Orofacial, Infantile-Onset:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Dyskinesia, Limb and Orofacial, Infantile-Onset

Related Diseases for Dyskinesia, Limb and Orofacial, Infantile-Onset

Symptoms & Phenotypes for Dyskinesia, Limb and Orofacial, Infantile-Onset

Human phenotypes related to Dyskinesia, Limb and Orofacial, Infantile-Onset:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Dyskinesia, Limb and Orofacial, Infantile-Onset

Genetic Tests for Dyskinesia, Limb and Orofacial, Infantile-Onset

Genetic tests related to Dyskinesia, Limb and Orofacial, Infantile-Onset:

Anatomical Context for Dyskinesia, Limb and Orofacial, Infantile-Onset

MalaCards organs/tissues related to Dyskinesia, Limb and Orofacial, Infantile-Onset:

Publications for Dyskinesia, Limb and Orofacial, Infantile-Onset

Articles related to Dyskinesia, Limb and Orofacial, Infantile-Onset:

Genes for Dyskinesia, Limb and Orofacial, Infantile-Onset

Genes related to Dyskinesia, Limb and Orofacial, Infantile-Onset (1 elite genes):

Variations for Dyskinesia, Limb and Orofacial, Infantile-Onset

UniProtKB/Swiss-Prot genetic disease variations for Dyskinesia, Limb and Orofacial, Infantile-Onset:

ClinVar genetic disease variations for Dyskinesia, Limb and Orofacial, Infantile-Onset:

Expression for Dyskinesia, Limb and Orofacial, Infantile-Onset

Pathways for Dyskinesia, Limb and Orofacial, Infantile-Onset

GO Terms for Dyskinesia, Limb and Orofacial, Infantile-Onset

Sources for Dyskinesia, Limb and Orofacial, Infantile-Onset