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 57 74 29 6 40
Iolod 57 74
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:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 616921
MeSH 44 D020820
Orphanet 59 ORPHA494526

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). Affiliated tissues include brain, and related phenotypes are orofacial dyskinesia and dysarthria

UniProtKB/Swiss-Prot : 74 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:

59 32 (showing 16, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 orofacial dyskinesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002310
2 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
3 chorea 59 32 frequent (33%) Frequent (79-30%) HP:0002072
4 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
5 frequent falls 59 32 frequent (33%) Frequent (79-30%) HP:0002359
6 drooling 59 32 frequent (33%) Frequent (79-30%) HP:0002307
7 unsteady gait 59 32 frequent (33%) Frequent (79-30%) HP:0002317
8 muscular hypotonia of the trunk 59 32 frequent (33%) Frequent (79-30%) HP:0008936
9 nasogastric tube feeding in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0011470
10 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
11 feeding difficulties 59 32 occasional (7.5%) Frequent (79-30%) HP:0011968
12 hemiballismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0100248
13 brain atrophy 59 Excluded (0%)
14 seizures 32 HP:0001250
15 dyskinesia 32 HP:0100660
16 hyperkinesis 32 HP:0002487

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

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

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

41
Brain

Publications for Dyskinesia, Limb and Orofacial, Infantile-Onset

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

(showing 1, show less)
# Title Authors PMID Year
1
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. 8 71
27058446 2016

Variations for Dyskinesia, Limb and Orofacial, Infantile-Onset

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

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

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

74 (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

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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