MCID: INT228
MIFTS: 13

Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

MalaCards integrated aliases for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome:

Name: Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

MalaCards based summary : Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome An important gene associated with Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome is TRAPPC11 (Trafficking Protein Particle Complex 11). Related phenotypes are intellectual disability and seizures

Related Diseases for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

Symptoms & Phenotypes for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

Human phenotypes related to Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 chorea 59 32 frequent (33%) Frequent (79-30%) HP:0002072
4 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
5 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
6 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
7 myopathy 59 32 frequent (33%) Frequent (79-30%) HP:0003198
8 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
9 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
10 limb-girdle muscular dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0006785
11 myalgia 59 32 frequent (33%) Frequent (79-30%) HP:0003326
12 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
13 truncal ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002078
14 exercise-induced muscle fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0009020
15 progressive proximal muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009073
16 cerebral atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002059
17 hyperkinesis 59 32 frequent (33%) Frequent (79-30%) HP:0002487
18 restrictive ventilatory defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0002091
19 infantile muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008947
20 right ventricular dilatation 59 32 occasional (7.5%) Occasional (29-5%) HP:0005133

Drugs & Therapeutics for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome

Genetic Tests for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

Anatomical Context for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

Publications for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

Variations for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

Expression for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

Search GEO for disease gene expression data for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome.

Pathways for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

GO Terms for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

Sources for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

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
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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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