MCID: HNT014
MIFTS: 17

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 60
Huntington Disease Phenocopy Due to C9orf72 Expansions 60
C9orf72-Related Huntington Disease-Like Syndrome 60
C9orf72-Related Huntington Disease Phenocopy 60

Characteristics:

Orphanet epidemiological data:

60
huntington disease-like syndrome due to c9orf72 expansions
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

Orphanet: 60  
Rare neurological diseases


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 (C9orf72-SMCR8 Complex Subunit). Affiliated tissues include eye, and related phenotypes are ataxia and chorea

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:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
2 chorea 60 33 frequent (33%) Frequent (79-30%) HP:0002072
3 memory impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002354
4 rigidity 60 33 frequent (33%) Frequent (79-30%) HP:0002063
5 inappropriate behavior 60 33 frequent (33%) Frequent (79-30%) HP:0000719
6 depressivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000716
7 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
8 anxiety 60 33 occasional (7.5%) Occasional (29-5%) HP:0000739
9 dystonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001332
10 psychosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000709
11 parkinsonism 60 33 occasional (7.5%) Occasional (29-5%) HP:0001300
12 upper motor neuron dysfunction 60 33 occasional (7.5%) Occasional (29-5%) HP:0002493
13 myoclonus 60 33 very rare (1%) Very rare (<4-1%) HP:0001336
14 cognitive impairment 60 Frequent (79-30%)

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:

42
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 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
51 NCIt
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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