MCID: HNT004
MIFTS: 39

Huntington Disease-Like 2

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Huntington Disease-Like 2

MalaCards integrated aliases for Huntington Disease-Like 2:

Name: Huntington Disease-Like 2 57 12 24 59 75 29 13 55 6 73
Hdl2 57 12 59 75
Huntington Disease-Like, Type 2 40
Huntington's Disease-Like 2 12

Characteristics:

Orphanet epidemiological data:

59
huntington disease-like 2
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
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:

32
huntington disease-like 2:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance For ethical reasons, only a few unaffected individuals from families with hdl2 have been tested; therefore, the penetrance is unknown...

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Huntington Disease-Like 2

UniProtKB/Swiss-Prot : 75 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 muscle rigidity, bradykinesia and action tremor. An important gene associated with Huntington Disease-Like 2 is JPH3 (Junctophilin 3). The drugs Pitavastatin and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include caudate nucleus, testes and thyroid, and related phenotypes are personality changes and dementia

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 28.6 HTT JPH3 LOC109029536
2 choreoacanthocytosis 11.1
3 hepatitis 10.1
4 choreatic disease 9.3 HTT JPH3
5 leukodystrophy, hypomyelinating, 2 9.2 HTT JPH3
6 dentatorubral-pallidoluysian atrophy 9.0 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:

57
Neurologic Central Nervous System:
dysarthria
hyperreflexia
chorea
dystonia
rigidity
more
Growth Weight:
weight loss

Neurologic Behavioral Psychiatric Manifestations:
hallucinations
irritability
anxiety
apathy
delusions
more

Clinical features from OMIM:

606438

Human phenotypes related to Huntington Disease-Like 2:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 personality changes 59 32 frequent (33%) Frequent (79-30%) HP:0000751
2 dementia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000726
3 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
4 parkinsonism 59 32 occasional (7.5%) Occasional (29-5%) HP:0001300
5 dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001332
6 hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001347
7 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
8 chorea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002072
9 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
10 caudate atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002340
11 memory impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002354
12 primitive reflex 59 32 occasional (7.5%) Occasional (29-5%) HP:0002476
13 abnormality of movement 59 Frequent (79-30%)
14 behavioral abnormality 59 Occasional (29-5%)
15 abnormality of the cerebrum 59 Occasional (29-5%)
16 functional motor problems 59 Occasional (29-5%)
17 involuntary movements 59 Occasional (29-5%)
18 abnormality of the striatum 59 Occasional (29-5%)
19 depressivity 32 HP:0000716
20 irritability 32 HP:0000737
21 hallucinations 32 HP:0000738
22 anxiety 32 HP:0000739
23 apathy 32 HP:0000741
24 delusions 32 HP:0000746
25 dysarthria 32 HP:0001260
26 rigidity 32 HP:0002063
27 bradykinesia 32 HP:0002067
28 action tremor 32 HP:0002345
29 functional motor deficit 32 occasional (7.5%) HP:0004302

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 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 6366718 5282452
2
Methyltestosterone Approved Phase 4 58-18-4 6010
3
Testosterone Approved, Investigational Phase 4 58-22-0 6013
4
Testosterone enanthate Approved Phase 4 315-37-7 9416
5
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
6
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
7
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
8
Nicotinamide Approved, Investigational, Nutraceutical Phase 4 98-92-0 936
9 Anticholesteremic Agents Phase 4,Phase 3,Phase 2,Not Applicable
10 Antimetabolites Phase 4,Phase 3,Phase 2,Not Applicable
11 Calcium, Dietary Phase 4,Phase 3
12 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
13 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
14 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Not Applicable
15 Rosuvastatin Calcium Phase 4,Phase 3 147098-20-2
16 Atorvastatin Calcium Phase 4 134523-03-8
17 Micronutrients Phase 4
18 Nicotinic Acids Phase 4
19 Trace Elements Phase 4
20 Vasodilator Agents Phase 4
21 Vitamin B Complex Phase 4
22 Vitamins Phase 4
23 Anabolic Agents Phase 4
24 Androgens Phase 4
25 Antineoplastic Agents, Hormonal Phase 4
26 decanoic acid Phase 4
27 Hormone Antagonists Phase 4,Phase 3
28 Hormones Phase 4,Phase 3
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
30 Testosterone 17 beta-cypionate Phase 4
31 Folate Nutraceutical Phase 4
32 Vitamin B3 Nutraceutical Phase 4
33 Vitamin B9 Nutraceutical Phase 4
34
Rimonabant Approved, Investigational Phase 3 168273-06-1, 158681-13-1 104850
35
Epinephrine Approved, Vet_approved Phase 3 51-43-4 5816
36
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
37 Estradiol valerate Approved, Investigational, Vet_approved Phase 3 979-32-8
38
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
39
Levonorgestrel Approved, Investigational Phase 3 797-63-7, 17489-40-6 13109
40
Polyestradiol phosphate Approved Phase 3 28014-46-2
41
Racepinephrine Approved Phase 3 329-65-7 838
42
Glipizide Approved, Investigational Phase 3 29094-61-9 3478
43
Rosiglitazone Approved, Investigational Phase 3 122320-73-4 77999
44
Bazedoxifene Approved, Investigational Phase 3 198481-32-2
45
Maleic acid Experimental Phase 3 110-16-7 444266
46 Cannabinoid Receptor Antagonists Phase 3
47 Neurotransmitter Agents Phase 3
48 Coagulants Phase 3
49 Contraceptive Agents Phase 3
50 Contraceptives, Oral Phase 3

Interventional clinical trials:

(show all 25)
# 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 The Effect of Testosterone Replacement on the High Density Lipoprotein Cholesterol Subgroups Completed NCT01454011 Phase 4 Testosteron 250mg injection;Testosterone 50mg transdermal application
5 Japan Assessment of Pitavastatin and Atorvastatin in Acute Coronary Syndrome (JAPAN-ACS) Completed NCT00242944 Phase 4 Pitavastatin;Atorvastatin
6 An International Study of Rimonabant in Dyslipidemia With AtheroGenic Risk In Abdominally Obese Patients Completed NCT00239967 Phase 3 Rimonabant (SR141716);Placebo
7 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
8 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
9 Rosiglitazone Versus a Sulfonylurea On Progression Of Atherosclerosis In Patients With Heart Disease And Type 2 Diabetes Completed NCT00116831 Phase 3 Glipizide;rosiglitazone maleate
10 Study Evaluating Bazedoxifene Acetate In Osteoporosis In Postmenopausal Women Completed NCT00205777 Phase 3 Bazedoxifene Acetate
11 High Density Lipoprotein Turnover Terminated NCT00408148 Phase 3 Placebo;Rimonabant
12 Barley Protein and CVD Completed NCT00334308 Phase 2
13 Decreasing Risk of Coronary Artery Disease in Schizophrenia by Omega-3 Fatty Acid Supplementation Completed NCT00167310 Phase 2 Eicosapentaenoic acid (omega-3 fatty acid);Placebo
14 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
15 Low Carbohydrate Portfolio or "Eco-Atkins" Diet Completed NCT00256516 Phase 2
16 Effect of Saturated Fat on Large Low-density Lipoprotein (LDL) and High-density Lipoprotein (HDL) Completed NCT00895141 Not Applicable
17 Lipoprotein Effects of Substituting Beef Protein for Carbohydrate Completed NCT00852267 Not Applicable
18 Effects of Polyphenolic-rich Dark Chocolate/Cocoa and Almonds on Cardiovascular Disease Risk Factors Completed NCT01882881 Not Applicable
19 Effects of Walnuts on Central Blood Pressure, Arterial Stiffness Indices, Lipoproteins, and Other CVD Risk Factors Completed NCT02210767 Not Applicable
20 EPA Supplementation on Vascular Inflammation, and Gene Expression of PON2 in Patients With Type II Diabetes Mellitus Completed NCT03258840 Not Applicable
21 Clinical Study to Assess High-DHA Fish Oil on Biomarkers of Cardiovascular Disease Risk in Adults on Statin Therapy Completed NCT01690312 Not Applicable
22 Dietary Protein Sources and Atherogenic Dyslipidemia Completed NCT01427855 Not Applicable
23 A Defined, Plant-based, 4-week Dietary Intervention Reduces Lp(a) and Other Atherogenic Particles Completed NCT03172611 Not Applicable
24 Effect of a Spice Blend on Cardiovascular Risk Factors and Diet Satisfaction Recruiting NCT03064932 Not Applicable
25 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 29 JPH3

Anatomical Context for Huntington Disease-Like 2

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

41
Caudate Nucleus, Testes, Thyroid, Heart, Bone

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
Huntington disease-like 2: the first patient with apparent European ancestry. ( 18341606 )
2008
8
A comparison of huntington disease and huntington disease-like 2 neuropathology. ( 18379432 )
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
2 JPH3 NM_001271604.2(JPH3): c.431_433CTG(6_27) (p.Ala150_Ala157del) NT expansion Pathogenic rs193922903 GRCh38 Chromosome 16, 87604288: 87604290
3 JPH3 NM_001271604.2(JPH3): c.464_472delCTGCTGCTG (p.Ala155_Ala157del) deletion Benign/Likely benign GRCh37 Chromosome 16, 87637927: 87637935
4 JPH3 NM_001271604.2(JPH3): c.464_472delCTGCTGCTG (p.Ala155_Ala157del) deletion Benign/Likely benign GRCh38 Chromosome 16, 87604321: 87604329
5 JPH3 NM_001271604.2(JPH3): c.467_472dup (p.Ala157_Val158insAlaAla) duplication Benign GRCh38 Chromosome 16, 87604324: 87604329
6 JPH3 NM_001271604.2(JPH3): c.467_472dup (p.Ala157_Val158insAlaAla) duplication Benign GRCh37 Chromosome 16, 87637930: 87637935

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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