MCID: DYS188
MIFTS: 19

Dyskinesia, Limb and Orofacial, Infantile-Onset

Categories: Genetic diseases, Neuronal diseases, Rare diseases

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 57 75 29 6 40
Iolod 57 75
Infantile-Onset Generalized Dyskinesia with Orofacial Involvement 59
Infantile-Onset Orofacial-Trunk-Limbs Dyskinesia 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
dyskinesia, limb and orofacial, infantile-onset:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Dyskinesia, Limb and Orofacial, Infantile-Onset

OMIM : 57 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). Related phenotypes are seizures and dysarthria

UniProtKB/Swiss-Prot : 75 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.

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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 dysarthria 32 HP:0001260
3 motor delay 32 HP:0001270
4 tremor 32 occasional (7.5%) HP:0001337
5 chorea 32 HP:0002072
6 drooling 32 HP:0002307
7 orofacial dyskinesia 32 HP:0002310
8 unsteady gait 32 HP:0002317
9 frequent falls 32 HP:0002359
10 hyperkinesis 32 HP:0002487
11 muscular hypotonia of the trunk 32 HP:0008936
12 feeding difficulties 32 occasional (7.5%) HP:0011968
13 dyskinesia 32 HP:0100660

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

Search Clinical Trials , NIH Clinical Center 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:

# Genetic test Affiliating Genes
1 Dyskinesia, Limb and Orofacial, Infantile-Onset 29 PDE10A

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

Publications for Dyskinesia, Limb and Orofacial, Infantile-Onset

Variations for Dyskinesia, Limb and Orofacial, Infantile-Onset

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

75
# 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
# 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 GRCh37 Chromosome 6, 165829767: 165829767
6 PDE10A NM_001130690.2(PDE10A): c.1001T> G (p.Phe334Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 165416279: 165416279

Expression for Dyskinesia, Limb and Orofacial, Infantile-Onset

Search GEO for disease gene expression data 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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