MCID: HNT014
MIFTS: 14

Huntington Disease-Like Syndrome Due to C9orf72 Expansions

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Huntington Disease-Like Syndrome Due to C9orf72 Expansions

MalaCards integrated aliases for Huntington Disease-Like Syndrome Due to C9orf72 Expansions:

Name: Huntington Disease-Like Syndrome Due to C9orf72 Expansions 59
Huntington Disease Phenocopy Due to C9orf72 Expansions 59
C9orf72-Related Huntington Disease-Like Syndrome 59
C9orf72-Related Huntington Disease Phenocopy 59

Characteristics:

Orphanet epidemiological data:

59
huntington disease-like syndrome due to c9orf72 expansions
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA401901
ICD10 via Orphanet 34 G10

Summaries for Huntington Disease-Like Syndrome Due to C9orf72 Expansions

MalaCards based summary : Huntington Disease-Like Syndrome Due to C9orf72 Expansions, is also known as huntington disease phenocopy due to c9orf72 expansions. An important gene associated with Huntington Disease-Like Syndrome Due to C9orf72 Expansions is C9orf72 (Chromosome 9 Open Reading Frame 72). Affiliated tissues include eye, and related phenotypes are depressivity and ataxia

Related Diseases for Huntington Disease-Like Syndrome Due to C9orf72 Expansions

Symptoms & Phenotypes for Huntington Disease-Like Syndrome Due to C9orf72 Expansions

Human phenotypes related to Huntington Disease-Like Syndrome Due to C9orf72 Expansions:

59 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 Occasional (29-5%)
2 ataxia 59 Frequent (79-30%)
3 tremor 59 Occasional (29-5%)
4 chorea 59 Frequent (79-30%)
5 cognitive impairment 59 Frequent (79-30%)
6 myoclonus 59 Very rare (<4-1%)
7 anxiety 59 Occasional (29-5%)
8 dystonia 59 Occasional (29-5%)
9 memory impairment 59 Frequent (79-30%)
10 rigidity 59 Frequent (79-30%)
11 psychosis 59 Occasional (29-5%)
12 parkinsonism 59 Occasional (29-5%)
13 inappropriate behavior 59 Frequent (79-30%)
14 upper motor neuron dysfunction 59 Occasional (29-5%)

Drugs & Therapeutics for Huntington Disease-Like Syndrome Due to C9orf72 Expansions

Search Clinical Trials , NIH Clinical Center for Huntington Disease-Like Syndrome Due to C9orf72 Expansions

Genetic Tests for Huntington Disease-Like Syndrome Due to C9orf72 Expansions

Anatomical Context for Huntington Disease-Like Syndrome Due to C9orf72 Expansions

MalaCards organs/tissues related to Huntington Disease-Like Syndrome Due to C9orf72 Expansions:

41
Eye

Publications for Huntington Disease-Like Syndrome Due to C9orf72 Expansions

Variations for Huntington Disease-Like Syndrome Due to C9orf72 Expansions

Expression for Huntington Disease-Like Syndrome Due to C9orf72 Expansions

Search GEO for disease gene expression data for Huntington Disease-Like Syndrome Due to C9orf72 Expansions.

Pathways for Huntington Disease-Like Syndrome Due to C9orf72 Expansions

GO Terms for Huntington Disease-Like Syndrome Due to C9orf72 Expansions

Sources for Huntington Disease-Like Syndrome Due to C9orf72 Expansions

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
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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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