MCID: HNT004
MIFTS: 37

Huntington Disease-Like 2

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Huntington Disease-Like 2

MalaCards integrated aliases for Huntington Disease-Like 2:

Name: Huntington Disease-Like 2 53 12 23 55 71 28 13 51 69
Hdl2 53 12 55 71

Characteristics:

Orphanet epidemiological data:

55
huntington disease-like 2
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
mean age of onset 35-40 years
normal alleles contain 6 to 28 repeats
pathogenic alleles contain greater than 41 repeats


HPO:

31
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: 55  
Rare neurological diseases


External Ids:

OMIM 53 606438
Disease Ontology 12 DOID:0090104
ICD10 32 G10
Orphanet 55 ORPHA98934
UMLS via Orphanet 70 C1847987
ICD10 via Orphanet 33 G10
MedGen 39 C1847987
UMLS 69 C1847987

Summaries for Huntington Disease-Like 2

UniProtKB/Swiss-Prot : 71 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 huntington disease and choreoacanthocytosis, 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, heart and testes.

Disease Ontology : 12 A neurodegenerative disease characterized by autosomal dominant inheritance of a involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset that has material basis in a heterozygous expansion of a CAG/CTG repeat in the JPH3 gene on chromosome 16q24.

Description from OMIM: 606438
GeneReviews: NBK1529

Related Diseases for Huntington Disease-Like 2

Diseases in the Huntington Disease family:

Huntington Disease-Like 1 Huntington Disease-Like 3
Huntington Disease-Like 2 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:

# Related Disease Score Top Affiliating Genes
1 huntington disease 29.6 HTT JPH3
2 choreoacanthocytosis 11.1
3 huntington disease-like 3 10.2
4 hepatitis 10.1
5 choreatic disease 9.6 HTT JPH3
6 leukodystrophy, hypomyelinating, 2 9.6 HTT JPH3
7 dentatorubral-pallidoluysian atrophy 9.5 HTT JPH3

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 via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
dystonia
bradykinesia
action tremor
dysarthria
hyperreflexia
more
GrowthWeight:
weight loss

NeurologicBehavioralPsychiatricManifestations:
depression
hallucinations
irritability
anxiety
apathy
more

Clinical features from OMIM:

606438

Human phenotypes related to Huntington Disease-Like 2:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 dystonia 31 HP:0001332
2 bradykinesia 31 HP:0002067
3 action tremor 31 HP:0002345
4 dysarthria 31 HP:0001260
5 hyperreflexia 31 HP:0001347
6 chorea 31 HP:0002072
7 hallucinations 31 HP:0000738
8 irritability 31 HP:0000737
9 weight loss 31 HP:0001824
10 anxiety 31 HP:0000739
11 rigidity 31 HP:0002063
12 dementia 31 HP:0000726
13 apathy 31 HP:0000741
14 delusions 31 HP:0000746
15 depressivity 31 HP:0000716

UMLS symptoms related to Huntington Disease-Like 2:


action tremor, bradykinesia, muscle rigidity

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 55)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 5282452 6366718
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, Investigational, 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 Calcium, Dietary Phase 4,Phase 3
8 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Phase 2
9 Hypolipidemic Agents Phase 4,Phase 3,Phase 2
10 Lipid Regulating Agents Phase 4,Phase 3,Phase 2
11 Rosuvastatin Calcium Phase 4,Phase 3 147098-20-2
12 Atorvastatin Calcium Phase 4 134523-03-8
13 Micronutrients Phase 4
14 Nicotinic Acids Phase 4
15 Trace Elements Phase 4
16 Vasodilator Agents Phase 4
17 Vitamin B Complex Phase 4
18 Vitamins Phase 4
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
25
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
26
Levonorgestrel Approved, Investigational Phase 3 797-63-7, 17489-40-6 13109
27 Racepinephrine Approved Phase 3 329-65-7
28
Glipizide Approved, Investigational Phase 3 29094-61-9 3478
29
Rosiglitazone Approved, Investigational Phase 3 122320-73-4 77999
30
Maleic acid Experimental Phase 3 110-16-7 444266
31 Cannabinoid Receptor Antagonists Phase 3
32 Hormone Antagonists Phase 3
33 Hormones Phase 3
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
35 Neurotransmitter Agents Phase 3
36 Coagulants Phase 3
37 Contraceptive Agents Phase 3
38 Contraceptives, Oral Phase 3
39 Contraceptives, Oral, Combined Phase 3
40 Epinephryl borate Phase 3
41 Estradiol 17 beta-cypionate Phase 3
42 Estradiol 3-benzoate Phase 3
43 Estradiol valerate Phase 3 979-32-8
44 Estrogens Phase 3
45 Ethinyl estradiol, levonorgestrel drug combination Phase 3
46 Hemostatics Phase 3
47 Polyestradiol phosphate Phase 3
48 Hypoglycemic Agents Phase 3
49
Pravastatin Approved Phase 2 81093-37-0 54687
50 Barley Approved, Nutraceutical Phase 2

Interventional clinical trials:

(show all 18)

# Name Status NCT ID Phase Drugs
1 Effect of Rosuvastatin Therapy on HDL2 Level Unknown status NCT02593487 Phase 4 Rosuvastatin 10mg/d group;Rosuvastatin 20mg/d group
2 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 Pitavastatin;Atorvastatin
3 SLIM: Combined Effects of Slo-Niacin and Atorvastatin on Lipoproteins and Inflammatory Markers in Hyperlipidemia Completed NCT00194402 Phase 4 Slo-Niacin, atorvastatin
4 Japan Assessment of Pitavastatin and Atorvastatin in Acute Coronary Syndrome (JAPAN-ACS) Completed NCT00242944 Phase 4 Pitavastatin;Atorvastatin
5 An International Study of Rimonabant in Dyslipidemia With AtheroGenic Risk In Abdominally Obese Patients Completed NCT00239967 Phase 3 Rimonabant (SR141716);Placebo
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 Rosuvastatin
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 NOMAC-E2;Levonorgestrel and Ethinyl Estradiol
8 Rosiglitazone Versus a Sulfonylurea On Progression Of Atherosclerosis In Patients With Heart Disease And Type 2 Diabetes Completed NCT00116831 Phase 3 Glipizide;rosiglitazone maleate
9 High Density Lipoprotein Turnover Terminated NCT00408148 Phase 3 Placebo;Rimonabant
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 Placebo;Pravastatin;dalceptrapib;dalceptrapib;dalceptrapib
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 EPA Supplementation on Vascular Inflammation, and Gene Expression of PON2 in Patients With Type II Diabetes Mellitus Completed NCT03258840
16 Clinical Study to Assess High-DHA Fish Oil on Biomarkers of Cardiovascular Disease Risk in Adults on Statin Therapy Completed NCT01690312
17 Dietary Protein Sources and Atherogenic Dyslipidemia Completed NCT01427855
18 the Change of Cholesterol Efflux Capacity and Coronary Artery Disease in Real Clinical Practice Not yet recruiting NCT03389529

Search NIH Clinical Center for Huntington Disease-Like 2

Genetic Tests for Huntington Disease-Like 2

Genetic tests related to Huntington Disease-Like 2:

# Genetic test Affiliating Genes
1 Huntington Disease-Like 2 28 JPH3

Anatomical Context for Huntington Disease-Like 2

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

38
Caudate Nucleus, Heart, Testes, Thyroid

Publications for Huntington Disease-Like 2

Articles related to Huntington Disease-Like 2:

(show all 11)
# Title Authors Year
1
A Systematic Review of the Huntington Disease-Like 2 Phenotype. ( 28339400 )
2017
2
A Drosophila model of Huntington disease-like 2 exhibits nuclear toxicity and distinct pathogenic mechanisms from Huntington disease. ( 27288455 )
2016
3
The Frequency of Huntington Disease and Huntington Disease-Like 2 in the South African Population. ( 26882115 )
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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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