IOLOD
MCID: DYS188
MIFTS: 20

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

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 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:

Orphanet: 60  
Rare neurological diseases


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.

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:

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

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 30 PDE10A

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

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

42
Brain

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 )
2016

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

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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