HDL2
MCID: HNT004
MIFTS: 28

Huntington Disease-Like 2 (HDL2) malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Huntington Disease-Like 2

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Sources:
47OMIM, 19GeneReviews, 33MalaCards
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MalaCards: Huntington Disease-Like 2, also known as huntington disease, is related to hepatitis and neuroacanthocytosis. An important gene associated with Huntington Disease-Like 2 is JPH3 (junctophilin 3). The drugs baclofen and coenzyme q10 have been mentioned in the context of this disorder.

Description from OMIM:47 606438

GeneReviews summary for hd-l2

Aliases & Classifications for Huntington Disease-Like 2

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Sources:
19GeneReviews, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

49
huntington disease-like 2:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adulthood


Aliases & Descriptions:

huntington disease-like 2 19 20 22 47 45 49
huntington disease 62
hdl2 49


External Ids:

OMIM47 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 Huntington Disease-Like Syndrome Due to C9orf72 Expansions

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

idRelated DiseaseScoreTop Affiliating Genes
1hepatitis10.3
2neuroacanthocytosis10.2
3chorea-acanthocytosis10.2
4levine-critchley syndrome10.2
5hyperlipoproteinemia type iv10.0
6huntington's disease10.0
7hypertension10.0
8ischemia10.0
9obesity10.0

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



Diseases related to huntington disease-like 2

Symptoms for Huntington Disease-Like 2

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Sources:
47OMIM
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Symptoms by clinical synopsis from OMIM:

606438

Clinical features from OMIM:

606438

Drugs & Therapeutics for Huntington Disease-Like 2

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Huntington Disease-Like 2

Search NIH Clinical Center for Huntington Disease-Like 2

Inferred drug relations via UMLS62/NDF-RT41:

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:
52PubMed
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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

Variations for Huntington Disease-Like 2

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Expression for genes affiliated with Huntington Disease-Like 2

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Sources:
2BioGPS, 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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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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet