MCID: INT228
MIFTS: 14

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 60

Characteristics:

Orphanet epidemiological data:

60
intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 60  
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 chorea

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:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
2 chorea 60 33 frequent (33%) Frequent (79-30%) HP:0002072
3 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
4 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
5 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
6 myopathy 60 33 frequent (33%) Frequent (79-30%) HP:0003198
7 limb-girdle muscular dystrophy 60 33 frequent (33%) Frequent (79-30%) HP:0006785
8 myalgia 60 33 frequent (33%) Frequent (79-30%) HP:0003326
9 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
10 truncal ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002078
11 exercise-induced muscle fatigue 60 33 frequent (33%) Frequent (79-30%) HP:0009020
12 progressive proximal muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0009073
13 hyperkinesis 60 33 frequent (33%) Frequent (79-30%) HP:0002487
14 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
15 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
16 myopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000545
17 cerebral atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002059
18 restrictive ventilatory defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0002091
19 infantile muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008947
20 right ventricular dilatation 60 33 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 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
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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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