HDL2
MCID: HNT004
MIFTS: 23

Huntington Disease-Like 2 (HDL2) malady

Neuronal category

Summaries for Huntington Disease-Like 2

Sources:
47OMIM, 19GeneReviews, 33MalaCards
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MalaCards: Huntington Disease-Like 2, also known as huntington disease, is related to huntington's disease and dentatorubral-pallidoluysian atrophy. 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:47 606438

GeneReviews summary for hd-l2

Aliases & Classifications for Huntington Disease-Like 2

Sources:
19GeneReviews, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS
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Classifications:

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


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 61
huntington chorea 19
hdl2 49


External Ids:

OMIM47 606438

Related Diseases for Huntington Disease-Like 2

Sources:
17GeneCards, 18GeneDecks
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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

Sources:
47OMIM
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Clinical features from OMIM:

606438

Clinical synopsis from OMIM:

606438

Drugs & Therapeutics for Huntington Disease-Like 2

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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 UMLS61/NDF-RT41:

Genetic Tests for Huntington Disease-Like 2

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

Animal Models for Huntington Disease-Like 2 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Huntington Disease-Like 2

Genetic Variations for Huntington Disease-Like 2

Expression for genes affiliated with Huntington Disease-Like 2

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

Compounds for genes affiliated with Huntington Disease-Like 2

Sources:
45Novoseek
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Compounds related to Huntington Disease-Like 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1it 15459.1JPH3, HTT

GO Terms for genes affiliated with Huntington Disease-Like 2

Products for genes affiliated with Huntington Disease-Like 2

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Huntington Disease-Like 2

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet