IOLOD
MCID: DYS188
MIFTS: 23

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 72 29 6 39
Iolod 57 72
Infantile-Onset Generalized Dyskinesia with Orofacial Involvement 58
Infantile-Onset Orofacial-Trunk-Limbs Dyskinesia 58
Infantile-Onset Limb and Orofacial Dyskinesia 36

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
dyskinesia, limb and orofacial, infantile-onset:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
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) (Updated 20-May-2021)

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), and among its related pathways/superpathways are Purine metabolism and cAMP signaling pathway. Affiliated tissues include brain, and related phenotypes are orofacial dyskinesia and dysarthria

KEGG : 36 Infantile-onset limb and orofacial dyskinesia (IOLOD) is a hyperkinetic movement disorder due to homozygous mutations in PDE10A, that encodes a dual cAMP-cGMP phosphodiesterase. PDE10A is enriched in the medium spiny neurons of the corpus striatum.

UniProtKB/Swiss-Prot : 72 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:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 orofacial dyskinesia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002310
2 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
3 chorea 58 31 frequent (33%) Frequent (79-30%) HP:0002072
4 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
5 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
6 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
7 muscular hypotonia of the trunk 58 31 frequent (33%) Frequent (79-30%) HP:0008936
8 drooling 58 31 frequent (33%) Frequent (79-30%) HP:0002307
9 nasogastric tube feeding in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0011470
10 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
11 hemiballismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0100248
12 feeding difficulties 58 31 occasional (7.5%) Frequent (79-30%) HP:0011968
13 dyskinesia 31 HP:0100660
14 brain atrophy 58 Excluded (0%)
15 hyperkinetic movements 31 HP:0002487
16 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dysarthria
chorea
unsteady gait
frequent falls
drooling
more
Abdomen Gastrointestinal:
feeding difficulties (in some patients)

Head And Neck Mouth:
drooling
orolingual dyskinesia

Clinical features from OMIM®:

616921 (Updated 20-May-2021)

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:

40
Brain

Publications for Dyskinesia, Limb and Orofacial, Infantile-Onset

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

# Title Authors PMID Year
1
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. 6 57
27058446 2016
2
Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly. 6
29159890 2018

Variations for Dyskinesia, Limb and Orofacial, Infantile-Onset

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDE10A NM_006661.4(PDE10A):c.290A>G (p.Tyr97Cys) SNV Pathogenic 225633 rs778899140 GRCh37: 6:165863756-165863756
GRCh38: 6:165450268-165450268
2 PDE10A NM_006661.4(PDE10A):c.316G>C (p.Ala106Pro) SNV Pathogenic 225634 rs875989839 GRCh37: 6:165863730-165863730
GRCh38: 6:165450242-165450242
3 PDE10A NM_001130690.2(PDE10A):c.1001T>G (p.Phe334Cys) SNV Likely pathogenic 522607 rs1554258695 GRCh37: 6:165829767-165829767
GRCh38: 6:165416279-165416279
4 PDE10A NM_001130690.3(PDE10A):c.544C>T (p.Arg182Ter) SNV Likely pathogenic 804399 rs1583275773 GRCh37: 6:165846611-165846611
GRCh38: 6:165433123-165433123
5 PDE10A NM_001130690.3(PDE10A):c.652C>T (p.Arg218Trp) SNV Likely pathogenic 807460 rs1332740547 GRCh37: 6:165846503-165846503
GRCh38: 6:165433015-165433015

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

72
# 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

Pathways related to Dyskinesia, Limb and Orofacial, Infantile-Onset according to KEGG:

36
# Name Kegg Source Accession
1 Purine metabolism hsa00230
2 cAMP signaling pathway hsa04024

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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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