HDL2
MCID: HNT004
MIFTS: 34

Huntington Disease-Like 2 (HDL2) malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Huntington Disease-Like 2

Aliases & Descriptions for Huntington Disease-Like 2:

Name: Huntington Disease-Like 2 54 23 24 56 66 29 13 52 69
Hdl2 24 56 66

Characteristics:

Orphanet epidemiological data:

56
huntington disease-like 2
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

GeneReviews:

23
huntington disease-like 2:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance For ethical reasons, only a few unaffected individuals from families with hdl2 have been tested; therefore, the penetrance is unknown. ...

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 606438
Orphanet 56 ORPHA98934
ICD10 via Orphanet 34 G10
MedGen 40 C1847987

Summaries for Huntington Disease-Like 2

UniProtKB/Swiss-Prot : 66 Huntington disease-like 2: Huntington disease (HD) is a neurodegenerative disorder resulting primarily from the loss of medium spiny projection neurons in the striatum, especially in the caudate nucleus, and, to a lesser extent, atrophy of mesencephalic and cortical structures. The typical clinical picture of HD combines familial adult onset chorea and subcortical dementia that usually begin during the fourth decade of life.

MalaCards based summary : Huntington Disease-Like 2, also known as hdl2, is related to choreoacanthocytosis and huntington disease, and has symptoms including dystonia, bradykinesia and action tremor. An important gene associated with Huntington Disease-Like 2 is JPH3 (Junctophilin 3). The drugs Pitavastatin and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include caudate nucleus and testes.

Description from OMIM: 606438
GeneReviews: NBK1529

Related Diseases for Huntington Disease-Like 2

Diseases in the Huntington Disease family:

Huntington Disease-Like 3 Huntington Disease-Like 2
Huntington Disease-Like 1 Juvenile Huntington Disease
Huntington Disease-Like Syndrome Huntington Disease-Like Syndrome Due to C9orf72 Expansions

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

id Related Disease Score Top Affiliating Genes
1 choreoacanthocytosis 11.0
2 huntington disease 10.3
3 hepatitis 10.0
4 mucopolysaccharidosis is 10.0 HTT JPH3
5 spastic paraplegia 44, autosomal recessive 9.9 HTT JPH3
6 sjogren's syndrome 9.8 HTT JPH3
7 melanoma, cutaneous malignant, 5 9.4 HTT JPH3 KLHDC4 LOC109029536

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



Diseases related to Huntington Disease-Like 2

Symptoms & Phenotypes for Huntington Disease-Like 2

Symptoms by clinical synopsis from OMIM:

606438

Clinical features from OMIM:

606438

Human phenotypes related to Huntington Disease-Like 2:

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 dystonia 32 HP:0001332
2 bradykinesia 32 HP:0002067
3 action tremor 32 HP:0002345
4 depression 32 HP:0000716
5 dysarthria 32 HP:0001260
6 hyperreflexia 32 HP:0001347
7 chorea 32 HP:0002072
8 hallucinations 32 HP:0000738
9 irritability 32 HP:0000737
10 weight loss 32 HP:0001824
11 anxiety 32 HP:0000739
12 rigidity 32 HP:0002063
13 dementia 32 HP:0000726
14 apathy 32 HP:0000741
15 delusions 32 HP:0000746

UMLS symptoms related to Huntington Disease-Like 2:


muscle rigidity, bradykinesia, action tremor

Drugs & Therapeutics for Huntington Disease-Like 2

Drugs for Huntington Disease-Like 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 54)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 6366718 5282452
2
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
3
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
4
Nicotinamide Approved, Nutraceutical Phase 4 98-92-0 936
5 Anticholesteremic Agents Phase 4,Phase 3,Phase 2
6 Antimetabolites Phase 4,Phase 3,Phase 2
7 Atorvastatin Calcium Phase 4 134523-03-8
8 Calcium, Dietary Phase 4,Phase 3
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Phase 2
10 Hypolipidemic Agents Phase 4,Phase 3,Phase 2
11 Lipid Regulating Agents Phase 4,Phase 3,Phase 2
12 Micronutrients Phase 4
13 Nicotinic Acids Phase 4
14 Trace Elements Phase 4
15 Vasodilator Agents Phase 4
16 Vitamin B Complex Phase 4
17 Vitamins Phase 4
18 Rosuvastatin Calcium Phase 4,Phase 3 147098-20-2
19 Folate Nutraceutical Phase 4
20 Vitamin B3 Nutraceutical Phase 4
21 Vitamin B9 Nutraceutical Phase 4
22
Rimonabant Approved, Investigational Phase 3 168273-06-1, 158681-13-1 104850
23
Epinephrine Approved, Vet_approved Phase 3 51-43-4 5816
24
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757 53477783
25
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
26
Levonorgestrel Approved, Investigational Phase 3 797-63-7, 17489-40-6 13109
27
Glipizide Approved Phase 3 29094-61-9 3478
28
Rosiglitazone Approved, Investigational Phase 3 122320-73-4 77999
29
Maleic acid Experimental Phase 3 110-16-7 444266
30 Cannabinoid Receptor Antagonists Phase 3
31 Hormone Antagonists Phase 3
32 Hormones Phase 3
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
34 Neurotransmitter Agents Phase 3
35 Coagulants Phase 3
36 Contraceptive Agents Phase 3
37 Contraceptives, Oral Phase 3
38 Contraceptives, Oral, Combined Phase 3
39 Epinephryl borate Phase 3
40 Estradiol 17 beta-cypionate Phase 3
41 Estradiol 3-benzoate Phase 3
42 Estradiol valerate Phase 3 979-32-8
43 Estrogens Phase 3
44 Ethinyl estradiol, levonorgestrel drug combination Phase 3
45 Hemostatics Phase 3
46 Polyestradiol phosphate Phase 3
47 Racepinephrine Phase 3
48 Hypoglycemic Agents Phase 3
49
Pravastatin Approved Phase 2 81093-37-0 54687
50 Caseins Phase 2

Interventional clinical trials:

(show all 17)
id Name Status NCT ID Phase
1 Comparison of Pitavastatin With Atorvastatin in Increasing High Density Lipoprotein - Cholesterol (HDL-C) and Adiponectin in Patients With Dyslipidemia and Coronary Artery Disease (CAD) Completed NCT00861861 Phase 4
2 SLIM: Combined Effects of Slo-Niacin and Atorvastatin on Lipoproteins and Inflammatory Markers in Hyperlipidemia Completed NCT00194402 Phase 4
3 Japan Assessment of Pitavastatin and Atorvastatin in Acute Coronary Syndrome (JAPAN-ACS) Completed NCT00242944 Phase 4
4 Effect of Rosuvastatin Therapy on HDL2 Level Not yet recruiting NCT02593487 Phase 4
5 An International Study of Rimonabant in Dyslipidemia With AtheroGenic Risk In Abdominally Obese Patients Completed NCT00239967 Phase 3
6 A Study to Investigate the Effect of Rosuvastatin (CRESTOR®) on High Density Lipoprotein Kinetics in Patients With the Metabolic Syndrome Completed NCT00240305 Phase 3
7 Effects on Hemostasis, Lipids, Carbohydrate Metabolism, Adrenal & Thyroid Function of the Combined Oral Contraceptive NOMAC-E2 Compared to a COC Containing LNG-EE (292004)(COMPLETED)(P05764) Completed NCT00511355 Phase 3
8 Rosiglitazone Versus a Sulfonylurea On Progression Of Atherosclerosis In Patients With Heart Disease And Type 2 Diabetes Completed NCT00116831 Phase 3
9 High Density Lipoprotein Turnover Terminated NCT00408148 Phase 3
10 Barley Protein and CVD Completed NCT00334308 Phase 2
11 A Study to Assess the Effect of RO4607381 in Patients With Relatively Low Levels of High Density Lipoprotein-Cholesterol (HDL-C) Completed NCT00697203 Phase 2
12 Low Carbohydrate Portfolio or "Eco-Atkins" Diet Completed NCT00256516 Phase 2
13 Effect of Saturated Fat on Large Low-density Lipoprotein (LDL) and High-density Lipoprotein (HDL) Completed NCT00895141
14 Lipoprotein Effects of Substituting Beef Protein for Carbohydrate Completed NCT00852267
15 Clinical Study to Assess High-DHA Fish Oil on Biomarkers of Cardiovascular Disease Risk in Adults on Statin Therapy Completed NCT01690312
16 Comparative 2-D Tumor Analysis in Familial Gliomas Completed NCT00125710
17 Dietary Protein Sources and Atherogenic Dyslipidemia Active, not recruiting NCT01427855

Search NIH Clinical Center for Huntington Disease-Like 2

Genetic Tests for Huntington Disease-Like 2

Genetic tests related to Huntington Disease-Like 2:

id Genetic test Affiliating Genes
1 Huntington Disease-Like 2 29 24 JPH3

Anatomical Context for Huntington Disease-Like 2

MalaCards organs/tissues related to Huntington Disease-Like 2:

39
Caudate Nucleus, Testes

Publications for Huntington Disease-Like 2

Articles related to Huntington Disease-Like 2:

(show all 11)
id Title Authors Year
1
A Systematic Review of the Huntington Disease-Like 2 Phenotype. ( 28339400 )
2017
2
The Frequency of Huntington Disease and Huntington Disease-Like 2 in the South African Population. ( 26882115 )
2016
3
A Drosophila model of Huntington disease-like 2 exhibits nuclear toxicity and distinct pathogenic mechanisms from Huntington disease. ( 27288455 )
2016
4
Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype. ( 26079385 )
2015
5
Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin. ( 22971727 )
2013
6
Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesis. ( 22367996 )
2012
7
A comparison of huntington disease and huntington disease-like 2 neuropathology. ( 18379432 )
2008
8
Huntington disease-like 2: the first patient with apparent European ancestry. ( 18341606 )
2008
9
A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features. ( 17708569 )
2007
10
A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. ( 11694876 )
2001
11
Huntington Disease-Like 2 ( 20301701 )
1993

Variations for Huntington Disease-Like 2

ClinVar genetic disease variations for Huntington Disease-Like 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 JPH3 NM_001271604.2(JPH3): c.431_433CTG(6_27) (p.Ala150_Ala157del) NT expansion Pathogenic rs193922903 GRCh37 Chromosome 16, 87637894: 87637896

Expression for Huntington Disease-Like 2

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

Pathways for Huntington Disease-Like 2

GO Terms for Huntington Disease-Like 2

Sources for Huntington Disease-Like 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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