MCID: HNT014
MIFTS: 15

Huntington Disease-Like Syndrome Due to C9orf72 Expansions

Categories: Eye diseases, Genetic diseases, Mental diseases, Muscle 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 58
Huntington Disease Phenocopy Due to C9orf72 Expansions 58
C9orf72-Related Huntington Disease-Like Syndrome 58
C9orf72-Related Huntington Disease Phenocopy 58

Characteristics:

Orphanet epidemiological data:

58
huntington disease-like syndrome due to c9orf72 expansions
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

Orphanet: 58  
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:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
2 chorea 58 31 frequent (33%) Frequent (79-30%) HP:0002072
3 memory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002354
4 rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0002063
5 inappropriate behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000719
6 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
7 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
8 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
9 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
10 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
11 upper motor neuron dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0002493
12 parkinsonism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001300
13 myoclonus 58 31 very rare (1%) Very rare (<4-1%) HP:0001336
14 cognitive impairment 58 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:

40
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
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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