HDL2
MCID: HNT004
MIFTS: 27

Huntington Disease-Like 2 (HDL2) malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Huntington Disease-Like 2

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MalaCards based summary: Huntington Disease-Like 2, also known as HDL2, is related to hepatitis and neuroacanthocytosis, and has symptoms including autosomal dominant inheritance, depression and dementia. An important gene associated with Huntington Disease-Like 2 is JPH3 (junctophilin 3).

Description from OMIM:46 606438

GeneReviews summary for hd-l2

Aliases & Classifications for Huntington Disease-Like 2

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Sources:
20GeneReviews, 21GeneTests, 23GTR, 46OMIM, 44Novoseek, 48Orphanet
See all sources

Huntington Disease-Like 2, Aliases & Descriptions:

Name: Huntington Disease-Like 2 20 21 23 46 44 48
 
Hdl2 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 606438

Related Diseases for Huntington Disease-Like 2

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

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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Symptoms by clinical synopsis from OMIM:

606438

Clinical features from OMIM:

606438

HPO human phenotypes related to Huntington Disease-Like 2:

(show all 16)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 depression HP:0000716
3 dementia HP:0000726
4 irritability HP:0000737
5 hallucinations HP:0000738
6 anxiety HP:0000739
7 apathy HP:0000741
8 delusions HP:0000746
9 dysarthria HP:0001260
10 dystonia HP:0001332
11 hyperreflexia HP:0001347
12 weight loss HP:0001824
13 rigidity HP:0002063
14 bradykinesia HP:0002067
15 chorea HP:0002072
16 action tremor HP:0002345

Drugs & Therapeutics for Huntington Disease-Like 2

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Drug clinical trials:

Search ClinicalTrials for Huntington Disease-Like 2

Search NIH Clinical Center for Huntington Disease-Like 2

Genetic Tests for Huntington Disease-Like 2

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Genetic tests related to Huntington Disease-Like 2:

id Genetic test Affiliating Genes
1 Huntington Disease-Like 221 23 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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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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Clinvar genetic disease variations for Huntington Disease-Like 2:

7
id Gene Name Type Significance SNP ID Assembly Location
1JPH3NM_001271604.2(JPH3): c.431_433CTG(6_27) (p.Ala150_Ala157del)indelPathogenic

Expression for genes affiliated with Huntington Disease-Like 2

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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
  • Proteins
  • Kits and Assays

Sources for Huntington Disease-Like 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet