HDL2
MCID: HNT004
MIFTS: 41

Huntington Disease-Like 2 (HDL2)

Categories: Eye diseases, Genetic diseases, Mental 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's Disease-Like 2 12 15
Huntington Disease-Like, Type 2 40

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 choreoacanthocytosis and huntington disease, and has symptoms including action tremor, bradykinesia and muscle rigidity. An important gene associated with Huntington Disease-Like 2 is JPH3 (Junctophilin 3). The drugs Pitavastatin and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include caudate nucleus, heart and testes, and related phenotypes are gait disturbance and hyperreflexia

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:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 choreoacanthocytosis 31.8 JPH3 VPS13A
2 huntington disease 30.6 HTT JPH3 LOC109029536
3 huntington disease-like 3 10.8
4 heart disease 10.3
5 coronary heart disease 1 10.2
6 arteries, anomalies of 10.1
7 myocardial infarction 10.1
8 coronary artery anomaly 10.1
9 hypercholesterolemia, familial 10.0
10 ischemic heart disease 10.0
11 liver disease 10.0
12 neurodegeneration with brain iron accumulation 1 10.0 JPH3 VPS13A
13 biliary cirrhosis, primary, 1 9.9
14 breast cancer 9.9
15 hyperlipoproteinemia, type iv 9.9
16 rheumatoid arthritis 9.9
17 huntington disease-like 1 9.9
18 acute myocardial infarction 9.9
19 arthritis 9.9
20 diabetes mellitus 9.9
21 primary biliary cirrhosis 9.9
22 glucose intolerance 9.9
23 arteriosclerosis 9.9
24 ischemia 9.9
25 fatty liver disease 9.9
26 primary biliary cholangitis 9.9
27 dentatorubral-pallidoluysian atrophy 9.9 HTT JPH3 PPP2R2B
28 spinocerebellar ataxia 36 9.9 ATXN10 PPP2R2B
29 spinocerebellar ataxia 8 9.8 ATXN10 PPP2R2B
30 choreatic disease 9.8 HTT JPH3 VPS13A
31 leukodystrophy, hypomyelinating, 2 9.8 HTT JPH3 VPS13A
32 cerebellar disease 9.8 ATXN10 PPP2R2B
33 hereditary ataxia 9.8 ATXN10 PPP2R2B
34 autosomal dominant cerebellar ataxia 9.7 ATXN10 HTT PPP2R2B
35 aceruloplasminemia 9.7 ATXN10 PPP2R2B

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

UMLS symptoms related to Huntington Disease-Like 2:


action tremor, bradykinesia, muscle rigidity

GenomeRNAi Phenotypes related to Huntington Disease-Like 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.23 ATXN10
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.23 HTT
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.23 ATXN10
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.23 HTT
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.23 HTT
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.23 ATXN10
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.23 ATXN10 HTT

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 78)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 5282452 6366718
2
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
3
Testosterone enanthate Approved Phase 4 315-37-7 9416
4
Methyltestosterone Approved Phase 4 58-18-4 6010
5
Testosterone Approved, Investigational Phase 4 58-22-0 6013
6
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
7
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
9 Calcium, Dietary Phase 4,Phase 3
10 Rosuvastatin Calcium Phase 4,Phase 3 147098-20-2
11 Anticholesteremic Agents Phase 4,Phase 3,Phase 2,Not Applicable
12 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Not Applicable
13 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
14 Antimetabolites Phase 4,Phase 3,Phase 2,Not Applicable
15 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
16 Atorvastatin Calcium Phase 4 134523-03-8
17 Vasodilator Agents Phase 4
18 Trace Elements Phase 4
19 Vitamin B9 Phase 4
20 Vitamins Phase 4
21 Vitamin B3 Phase 4
22 Folate Phase 4
23 Vitamin B Complex Phase 4
24 Nicotinic Acids Phase 4
25 Micronutrients Phase 4
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
27 Hormone Antagonists Phase 4,Phase 3
28 Androgens Phase 4
29 Testosterone 17 beta-cypionate Phase 4
30 Antineoplastic Agents, Hormonal Phase 4
31 decanoic acid Phase 4
32 Hormones Phase 4,Phase 3
33 Anabolic Agents Phase 4
34
Rimonabant Approved, Investigational Phase 3 158681-13-1, 168273-06-1 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
Levonorgestrel Approved, Investigational Phase 3 17489-40-6, 797-63-7 13109
38
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
39 Estradiol valerate Approved, Investigational, Vet_approved Phase 3 979-32-8
40
Polyestradiol phosphate Approved Phase 3 28014-46-2
41
Racepinephrine Approved Phase 3 329-65-7 838
42
Rosiglitazone Approved, Investigational Phase 3 122320-73-4 77999
43
Glipizide Approved, Investigational Phase 3 29094-61-9 3478
44
Bazedoxifene Approved, Investigational Phase 3 198481-32-2
45
Maleic acid Experimental Phase 3 110-16-7 444266
46 Neurotransmitter Agents Phase 3
47 Cannabinoid Receptor Antagonists Phase 3
48 Estradiol 17 beta-cypionate Phase 3
49 Estradiol 3-benzoate Phase 3
50 Estrogens Phase 3

Interventional clinical trials:

(show all 26)
# 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 High Density Lipoprotein Turnover Terminated NCT00408148 Phase 3 Placebo;Rimonabant
11 Study Evaluating Bazedoxifene Acetate In Osteoporosis In Postmenopausal Women Completed NCT00205777 Phase 3 Bazedoxifene Acetate
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 the Change of Cholesterol Efflux Capacity and Coronary Artery Disease in Real Clinical Practice Not yet recruiting NCT03389529
22 Clinical Study to Assess High-DHA Fish Oil on Biomarkers of Cardiovascular Disease Risk in Adults on Statin Therapy Completed NCT01690312 Not Applicable
23 Effect of a Spice Blend on Cardiovascular Risk Factors and Diet Satisfaction Recruiting NCT03064932 Not Applicable
24 Dietary Protein Sources and Atherogenic Dyslipidemia Completed NCT01427855 Not Applicable
25 Effects of Exercise Mode on Abdominal Fat Loss Recruiting NCT03700827 Not Applicable
26 A Defined, Plant-based, 4-week Dietary Intervention Reduces Lp(a) and Other Atherogenic Particles Completed NCT03172611 Not Applicable

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, Heart, Testes, Eye, Liver, Brain, Adipocyte

Publications for Huntington Disease-Like 2

Articles related to Huntington Disease-Like 2:

(show top 50) (show all 137)
# Title Authors Year
1
Activity of paraoxonase 1 (PON1) on HDL2 and HDL3 subclasses in renal disease. ( 30130521 )
2018
2
Higher High Density Lipoprotein 2 (HDL2) to Total HDL Cholesterol Ratio Is Associated with a Lower Risk for Incident Hypertension. ( 30302964 )
2018
3
A Systematic Review of the Huntington Disease-Like 2 Phenotype. ( 28339400 )
2017
4
Featured Article: Depletion of HDL3 high density lipoprotein and altered functionality of HDL2 in blood from sickle cell patients. ( 28436274 )
2017
5
Type 2 Diabetes in Young Females Results in Increased Serum Amyloid A and Changes to Features of High Density Lipoproteins in Both HDL2 and HDL3. ( 28596970 )
2017
6
Impaired HDL2-mediated cholesterol efflux is associated with metabolic syndrome in families with early onset coronary heart disease and low HDL-cholesterol level. ( 28207870 )
2017
7
A Drosophila model of Huntington disease-like 2 exhibits nuclear toxicity and distinct pathogenic mechanisms from Huntington disease. ( 27288455 )
2016
8
The Frequency of Huntington Disease and Huntington Disease-Like 2 in the South African Population. ( 26882115 )
2016
9
Quantitative Proteomic Analysis Reveals Similarities between Huntington's Disease (HD) and Huntington's Disease-Like 2 (HDL2) Human Brains. ( 27486686 )
2016
10
HDL2/HDL3 Ratio Changes, Metabolic Syndrome Markers, and Other Factors in a Japanese Population. ( 26686740 )
2016
11
Refined purification strategy for reliable proteomic profiling of HDL2/3: Impact on proteomic complexity. ( 27917957 )
2016
12
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
13
Chemical modification of high density lipoprotein subfractions - HDL2 and HDL3 - after use of atorvastatin. ( 24548977 )
2014
14
HDL2-cholesterol/HDL3-cholesterol ratio was associated with insulin resistance, high-molecular-weight adiponectin, and components for metabolic syndrome in Japanese. ( 25201260 )
2014
15
Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin. ( 22971727 )
2013
16
α-Tocopherol induces proatherogenic changes to HDL2 & HDL3: an in vitro and ex vivo investigation. ( 23287638 )
2013
17
Angiotensinogen gene polymorphism and HDL2 are linked to coronary artery calcification in individuals with family history of early coronary disease. ( 23273503 )
2013
18
Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesis. ( 22367996 )
2012
19
High-density lipoprotein cholesterol subfractions HDL2 and HDL3 are reduced in women with rheumatoid arthritis and may augment the cardiovascular risk of women with RA: a cross-sectional study. ( 22584154 )
2012
20
Fifty-three year follow-up of coronary heart disease versus HDL2 and other lipoproteins in Gofman's Livermore Cohort. ( 22128321 )
2012
21
HDL2 interferes with LDL association with arterial proteoglycans: a possible athero-protective effect. ( 22999079 )
2012
22
Prospective study of coronary heart disease vs. HDL2, HDL3, and other lipoproteins in Gofman's Livermore Cohort. ( 21109246 )
2011
23
HDL3, but not HDL2, stimulates plasminogen activator inhibitor-1 release from adipocytes: the role of sphingosine-1-phosphate. ( 20522601 )
2010
24
HDL2 can inhibit further oxidative modification of partially oxidized LDL. ( 19942787 )
2010
25
Serum oxidized LDL is inversely associated with HDL2-cholesterol subclass in renal failure patients on hemodialysis. ( 20424480 )
2010
26
Estimation of VLDL, IDL, LDL, HDL2, apoA-I, and apoB from the Friedewald inputs--apoB and IDL, but not LDL, are associated with mortality in type 1 diabetes. ( 19412820 )
2009
27
Huntington disease-like 2: the first patient with apparent European ancestry. ( 18341606 )
2008
28
A comparison of huntington disease and huntington disease-like 2 neuropathology. ( 18379432 )
2008
29
Fatty liver is independently associated with alterations in circulating HDL2 and HDL3 subfractions. ( 18000185 )
2008
30
Serum lecithin: cholesterol acyltransferase activity, HDL2 and HDL3 composition in hypertensive mothers and their small for gestational age newborns. ( 17605041 )
2008
31
A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features. ( 17708569 )
2007
32
Beyond HDL-cholesterol increase: phospholipid enrichment and shift from HDL3 to HDL2 in alcohol consumers. ( 17431276 )
2007
33
Effects of bezafibrate on HDL2/HDL3 ratio in postmenopausal hypertriglyceridemic women. ( 16891292 )
2006
34
Evaluation of serum lipids and high-density lipoprotein subfractions (HDL2, HDL3) in postmenopausal patients with breast cancer. ( 15724433 )
2005
35
The HDL2/HDL3 ratio in menopause. ( 15733886 )
2005
36
Both HDL3 and HDL2 exert a powerful anti-oxidative and protective effect against acceleration of oxidative modification of LDL by ascorbic acid. ( 16022192 )
2005
37
Effect of long-term hemodialysis on plasma lecithin: cholesterol acyltransferase activity and the amounts and compositions of HDL2 and HDL3 in hemodialysis-treated patients with chronic renal failure: a 9-year longitudinal study. ( 15277993 )
2004
38
Acute exposure to environmental tobacco smoke reduces HDL-C and HDL2-C. ( 15066367 )
2004
39
HDL3 exerts a more powerful antiperoxidative and protective effect against peroxidative modification of LDL than HDL2 does. ( 12489818 )
2002
40
A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. ( 11694876 )
2001
41
Clinical evaluation of plasma high-density lipoprotein subfractions (HDL2, HDL3) in non-insulin-dependent diabetics with coronary artery disease. ( 11522502 )
2001
42
Clinical significance of plasma HDL subfractions (HDL2, HDL3) in patients with peripheral arterial disease (PAD) in the Greek population. ( 10211633 )
1999
43
Biochemical and physical properties of remnant-HDL2 and of pre beta 1-HDL produced by hepatic lipase. ( 10052947 )
1999
44
Apolipoprotein E genotype and exercise training-induced increases in plasma high-density lipoprotein (HDL)- and HDL2-cholesterol levels in overweight men. ( 10459553 )
1999
45
HDL3 exerts more powerful anti-oxidative, protective effects against copper-catalyzed LDL oxidation than HDL2. ( 9167898 )
1997
46
Serum lecithin: cholesterol acyltransferase activity and HDL2 and HDL3 composition in small for gestational age newborns. ( 9183494 )
1997
47
Associations of HDL2 and HDL3 subfractions with ischemic heart disease in men. Prospective results from the Québec Cardiovascular Study. ( 9194760 )
1997
48
Quantification of HDL2 and HDL3 cholesterol by the Vertical Auto Profile-II (VAP-II) methodology. ( 9392433 )
1997
49
Caloric restriction increases HDL2 levels in rhesus monkeys (Macaca mulatta). ( 9357800 )
1997
50
HDL subfractions distribution in renal transplant recipients: lack of evidence of a reduction of HDL2 particles. ( 8852488 )
1996

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
7 JPH3 NM_020655.3(JPH3): c.955C> T (p.Arg319Trp) single nucleotide variant Uncertain significance rs148131421 GRCh38 Chromosome 16, 87644830: 87644830
8 JPH3 NM_020655.3(JPH3): c.955C> T (p.Arg319Trp) single nucleotide variant Uncertain significance rs148131421 GRCh37 Chromosome 16, 87678436: 87678436

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

Biological processes related to Huntington Disease-Like 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of phosphoprotein phosphatase activity GO:0043666 8.62 HTT PPP2R2B

Sources for Huntington Disease-Like 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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