HDL2
MCID: HNT004
MIFTS: 30

Huntington Disease-Like 2 (HDL2) malady

Neuronal diseases category

Summaries for Huntington Disease-Like 2

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46OMIM, 19GeneReviews, 32MalaCards
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MalaCards: Huntington Disease-Like 2, also known as huntington disease, is related to huntington's disease and dementia. An important gene associated with Huntington Disease-Like 2 is JPH3 (junctophilin 3). The drugs baclofen and coenzyme q10 and the compound it 15 have been mentioned in the context of this disorder.

Description from OMIM:46 606438

GeneReviews summary for hd-l2

Aliases & Classifications for Huntington Disease-Like 2

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Sources:
60UMLS, 19GeneReviews, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
huntington disease-like 2:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adulthood


Aliases & Descriptions:

huntington disease-like 2 19 20 22 46 44 48
huntington disease 60
hdl2 48


External Ids:

OMIM46 606438

Related Diseases for Huntington Disease-Like 2

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Huntington's Disease family:

huntington disease-like 2 Juvenile Huntington Disease
Huntington Disease-Like 1 Huntington Disease-Like Syndrome
Huntington Disease-Like 3

Diseases related to Huntington Disease-Like 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1huntington's disease31.0JPH3, HTT
2dementia29.9HTT
3dentatorubral-pallidoluysian atrophy29.9JPH3, HTT
4huntington disease-like syndrome10.5
5brain disease10.5
6juvenile huntington disease10.5
7neuronitis10.3
8huntington disease-like 110.3
9huntington disease-like 310.3
10hepatitis10.3
11chromosomal disease10.2
12neurologic diseases10.2
13neuroacanthocytosis10.2
14spinocerebellar ataxia type 1710.2
15hepatitis a10.1
16levine-critchley syndrome10.1
17normal pressure hydrocephalus10.1
18hydrocephalus10.1
19hyperlipoproteinemia type iv10.0
20hypertension10.0
21ischemia10.0
22obesity10.0
23machado-joseph disease9.9
24cerebritis9.9
25familial adenomatous polyposis9.9
26hereditary spastic paraplegia9.9
27leber hereditary optic neuropathy9.9
28lipoid proteinosis9.9
29chorea-acanthocytosis9.9
30breast disease9.9
31cerebellar disease9.9
32myotonic disease9.9
33myotonic dystrophy9.9
34neuropathy9.9
35paraplegia9.9
36peroxisomal disease9.9
37porphyria9.9
38prion disease9.9
39spinocerebellar ataxia9.9
40substance abuse9.9
41testicular disease9.9
42tic disorder9.9
43x-linked disease9.9
44myotonic dystrophy type 19.9
45spastic paraplegia 49.9
46spinocerebellar ataxia type 109.9
47dysphagia9.9
48swallowing disorders9.9
49mcleod syndrome with or without chronic granulomatous disease9.9

Graphical network of the top 20 diseases related to Huntington Disease-Like 2:



Diseases related to huntington disease-like 2

Clinical Features for Huntington Disease-Like 2

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Sources:
46OMIM
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Clinical features from OMIM:

606438

Clinical synopsis from OMIM:

606438

Drugs & Therapeutics for Huntington Disease-Like 2

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Huntington Disease-Like 2

Drug clinical trials:

Search ClinicalTrials for Huntington Disease-Like 2

Search NIH Clinical Center for Huntington Disease-Like 2

Search CenterWatch for Huntington Disease-Like 2

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Huntington Disease-Like 2

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Huntington Disease-Like 2:

id Genetic test Affiliating Genes
1 Huntington Disease-Like 220 22 JPH3

Anatomical Context for Huntington Disease-Like 2

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Animal Models for Huntington Disease-Like 2 or affiliated genes

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Publications for Huntington Disease-Like 2

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Sources:
50PubMed
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Articles related to Huntington Disease-Like 2:

idTitleAuthorsYear
1
Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin. (22971727)
2013
2
Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesis. (22367996)
2012
3
A comparison of huntington disease and huntington disease-like 2 neuropathology. (18379432)
2008
4
Huntington disease-like 2: the first patient with apparent European ancestry. (18341606)
2008
5
A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features. (17708569)
2007
6
A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. (11694876)
2001
7
Huntington Disease-Like 2 (20301701)
1993

Genetic Variations for Huntington Disease-Like 2

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Expression for genes affiliated with Huntington Disease-Like 2

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Huntington Disease-Like 2

Search GEO for disease gene expression data for Huntington Disease-Like 2.

Pathways for genes affiliated with Huntington Disease-Like 2

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Compounds for genes affiliated with Huntington Disease-Like 2

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Sources:
44Novoseek
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Compounds related to Huntington Disease-Like 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1it 15449.1JPH3, HTT

GO Terms for genes affiliated with Huntington Disease-Like 2

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Products for genes affiliated with Huntington Disease-Like 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Huntington Disease-Like 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet