HDL3
MCID: HNT011
MIFTS: 33

Huntington Disease-Like 3 (HDL3)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Huntington Disease-Like 3

MalaCards integrated aliases for Huntington Disease-Like 3:

Name: Huntington Disease-Like 3 57 59 13 73
Hdl3 57 59
Huntington Disease-Like Neurodegenerative Disorder, Autosomal Recessive 57

Characteristics:

Orphanet epidemiological data:

59
huntington disease-like 3
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at age 3-5 years


HPO:

32
huntington disease-like 3:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Huntington Disease-Like 3

MalaCards based summary : Huntington Disease-Like 3, also known as hdl3, is related to huntington disease-like syndrome and huntington disease-like 2, and has symptoms including seizures, ataxia and abnormal pyramidal signs. An important gene associated with Huntington Disease-Like 3 is HDL3 (Huntington-Like Neurodegenerative Disorder 2). The drugs Pitavastatin and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and heart, and related phenotypes are seizures and ataxia

Description from OMIM: 604802

Related Diseases for Huntington Disease-Like 3

Graphical network of the top 20 diseases related to Huntington Disease-Like 3:



Diseases related to Huntington Disease-Like 3

Symptoms & Phenotypes for Huntington Disease-Like 3

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
spasticity
chorea
dystonia
more
Genitourinary Bladder:
incontinence

Abdomen Gastrointestinal:
incontinence

Skeletal Limbs:
contractures


Clinical features from OMIM:

604802

Human phenotypes related to Huntington Disease-Like 3:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 ataxia 32 HP:0001251
3 spasticity 32 HP:0001257
4 chorea 32 HP:0002072
5 neurological speech impairment 32 HP:0002167
6 bowel incontinence 32 HP:0002607
7 flexion contracture 32 HP:0001371
8 dystonia 32 HP:0001332
9 abnormality of extrapyramidal motor function 32 HP:0002071
10 mental deterioration 32 HP:0001268
11 urinary incontinence 32 HP:0000020
12 unsteady gait 32 HP:0002317
13 mutism 32 HP:0002300
14 frontal cortical atrophy 32 HP:0006913
15 caudate atrophy 32 HP:0002340
16 morphological abnormality of the pyramidal tract 32 HP:0002062
17 abnormal pyramidal sign 32 HP:0007256

UMLS symptoms related to Huntington Disease-Like 3:


seizures, ataxia, abnormal pyramidal signs, abnormality of extrapyramidal motor function, muscle spasticity

Drugs & Therapeutics for Huntington Disease-Like 3

Drugs for Huntington Disease-Like 3 (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 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 Atorvastatin and LDL Profile in Non-Insulin Dependent Diabetes Mellitus Terminated NCT00640549 Phase 4 Atorvastatin;Placebo
6 Japan Assessment of Pitavastatin and Atorvastatin in Acute Coronary Syndrome (JAPAN-ACS) Completed NCT00242944 Phase 4 Pitavastatin;Atorvastatin
7 An International Study of Rimonabant in Dyslipidemia With AtheroGenic Risk In Abdominally Obese Patients Completed NCT00239967 Phase 3 Rimonabant (SR141716);Placebo
8 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
9 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
10 Rosiglitazone Versus a Sulfonylurea On Progression Of Atherosclerosis In Patients With Heart Disease And Type 2 Diabetes Completed NCT00116831 Phase 3 Glipizide;rosiglitazone maleate
11 High Density Lipoprotein Turnover Terminated NCT00408148 Phase 3 Placebo;Rimonabant
12 Study Evaluating Bazedoxifene Acetate In Osteoporosis In Postmenopausal Women Completed NCT00205777 Phase 3 Bazedoxifene Acetate
13 Barley Protein and CVD Completed NCT00334308 Phase 2
14 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
15 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
16 Low Carbohydrate Portfolio or "Eco-Atkins" Diet Completed NCT00256516 Phase 2
17 Role of Ajwa Derived Polyphenols in Dyslipidaemias Not yet recruiting NCT03805139 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

Search NIH Clinical Center for Huntington Disease-Like 3

Genetic Tests for Huntington Disease-Like 3

Anatomical Context for Huntington Disease-Like 3

MalaCards organs/tissues related to Huntington Disease-Like 3:

41
Liver, Eye, Heart, Endothelial, Smooth Muscle, Small Intestine, Adipocyte

Publications for Huntington Disease-Like 3

Articles related to Huntington Disease-Like 3:

(show top 50) (show all 134)
# Title Authors Year
1
HDL3 Cholesterol Levels in an Elderly Population. ( 28450681 )
2018
2
Linseed oil increases HDL3 cholesterol and decreases blood pressure in patients diagnosed with mild hypercholesterolaemia. ( 29688571 )
2018
3
Activity of paraoxonase 1 (PON1) on HDL2 and HDL3 subclasses in renal disease. ( 30130521 )
2018
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
ABCA1 and HDL3 are required to modulate smooth muscle cells phenotypic switch after cholesterol loading. ( 28946038 )
2017
7
HDL2/HDL3 Ratio Changes, Metabolic Syndrome Markers, and Other Factors in a Japanese Population. ( 26686740 )
2016
8
Statin action enriches HDL3 in polyunsaturated phospholipids and plasmalogens and reduces LDL-derived phospholipid hydroperoxides in atherogenic mixed dyslipidemia. ( 27581680 )
2016
9
Chemical modification of high density lipoprotein subfractions - HDL2 and HDL3 - after use of atorvastatin. ( 24548977 )
2014
10
HDL2-cholesterol/HDL3-cholesterol ratio was associated with insulin resistance, high-molecular-weight adiponectin, and components for metabolic syndrome in Japanese. ( 25201260 )
2014
11
HDL3 stimulates paraoxonase 1 antiatherogenic catalytic and biological activities in a macrophage model system: in vivo and in vitro studies. ( 25230879 )
2014
12
α-Tocopherol induces proatherogenic changes to HDL2 & HDL3: an in vitro and ex vivo investigation. ( 23287638 )
2013
13
Lower levels of total HDL and HDL3 cholesterol are associated with albuminuria in normoalbuminuric Type 1 diabetic patients. ( 23404243 )
2013
14
Validation of a novel homogeneous assay for of HDL3-C measurement. ( 23891742 )
2013
15
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
16
Prospective study of coronary heart disease vs. HDL2, HDL3, and other lipoproteins in Gofman's Livermore Cohort. ( 21109246 )
2011
17
Blood pressure-lowering response to amlodipine as a determinant of the antioxidative activity of small, dense HDL3. ( 21699274 )
2011
18
HDL3, but not HDL2, stimulates plasminogen activator inhibitor-1 release from adipocytes: the role of sphingosine-1-phosphate. ( 20522601 )
2010
19
Relationship between HDL3 subclasses and waist circumferences on the prevalence of metabolic syndrome: KMSRI-Seoul Study. ( 20832067 )
2010
20
Ezetimibe decreases serum amyloid A levels in HDL3 in hemodialysis patients. ( 20875380 )
2010
21
Fatty liver is independently associated with alterations in circulating HDL2 and HDL3 subfractions. ( 18000185 )
2008
22
Serum lecithin: cholesterol acyltransferase activity, HDL2 and HDL3 composition in hypertensive mothers and their small for gestational age newborns. ( 17605041 )
2008
23
Beyond HDL-cholesterol increase: phospholipid enrichment and shift from HDL3 to HDL2 in alcohol consumers. ( 17431276 )
2007
24
Modification of HDL3 by mild oxidative stress increases ATP-binding cassette transporter 1-mediated cholesterol efflux. ( 17524375 )
2007
25
Oxidized-HDL3 modulates the expression of Cox-2 in human endothelial cells. ( 16786175 )
2006
26
Effects of bezafibrate on HDL2/HDL3 ratio in postmenopausal hypertriglyceridemic women. ( 16891292 )
2006
27
Evaluation of serum lipids and high-density lipoprotein subfractions (HDL2, HDL3) in postmenopausal patients with breast cancer. ( 15724433 )
2005
28
The HDL2/HDL3 ratio in menopause. ( 15733886 )
2005
29
Genome-wide linkage analyses and candidate gene fine mapping for HDL3 cholesterol: the Framingham Study. ( 15805549 )
2005
30
Altered composition of HDL3 in FH subjects causing a HDL subfraction with less atheroprotective function. ( 15936009 )
2005
31
Both HDL3 and HDL2 exert a powerful anti-oxidative and protective effect against acceleration of oxidative modification of LDL by ascorbic acid. ( 16022192 )
2005
32
Carboxyl ester lipase cofractionates with scavenger receptor BI in hepatocyte lipid rafts and enhances selective uptake and hydrolysis of cholesteryl esters from HDL3. ( 15105424 )
2004
33
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
34
Oxidised-HDL3 induces the expression of PAI-1 in human endothelial cells. Role of p38MAPK activation and mRNA stabilization. ( 15384983 )
2004
35
Purification and measurement of HDL3-binding proteins in human peripheral blood mononuclear cells. ( 12956441 )
2003
36
Cathepsins F and S block HDL3-induced cholesterol efflux from macrophage foam cells. ( 14651973 )
2003
37
HDL3 exerts a more powerful antiperoxidative and protective effect against peroxidative modification of LDL than HDL2 does. ( 12489818 )
2002
38
Clinical evaluation of plasma high-density lipoprotein subfractions (HDL2, HDL3) in non-insulin-dependent diabetics with coronary artery disease. ( 11522502 )
2001
39
Clinical significance of plasma HDL subfractions (HDL2, HDL3) in patients with peripheral arterial disease (PAD) in the Greek population. ( 10211633 )
1999
40
Preferential distribution of amphotericin B lipid complex into human HDL3 is a consequence of high density lipoprotein coat lipid content. ( 10564063 )
1999
41
Endogenous apoE expression modulates HDL3 binding to macrophages. ( 9507990 )
1998
42
High-density lipoprotein (HDL3)-associated alpha-tocopherol is taken up by HepG2 cells via the selective uptake pathway and resecreted with endogenously synthesized apo-lipoprotein B-rich lipoprotein particles. ( 9576851 )
1998
43
Strong synergistic anti-peroxidative effects of HDL3 and ascorbic acid against copper-catalyzed LDL peroxidation. ( 9630694 )
1998
44
HDL3-mediated inhibition of thrombin-induced platelet aggregation and fibrinogen binding occurs via decreased production of phosphoinositide-derived second messengers 1,2-diacylglycerol and inositol 1,4,5-tris-phosphate. ( 9633924 )
1998
45
Implications of endogenous and exogenous lipoprotein lipase for the selective uptake of HDL3-associated cholesteryl esters by mouse peritoneal macrophages. ( 9162744 )
1997
46
HDL3 exerts more powerful anti-oxidative, protective effects against copper-catalyzed LDL oxidation than HDL2. ( 9167898 )
1997
47
Serum lecithin: cholesterol acyltransferase activity and HDL2 and HDL3 composition in small for gestational age newborns. ( 9183494 )
1997
48
Associations of HDL2 and HDL3 subfractions with ischemic heart disease in men. Prospective results from the Québec Cardiovascular Study. ( 9194760 )
1997
49
HDL3 binds to glycosylphosphatidylinositol-anchored proteins to activate signalling pathways. ( 9296527 )
1997
50
Quantification of HDL2 and HDL3 cholesterol by the Vertical Auto Profile-II (VAP-II) methodology. ( 9392433 )
1997

Variations for Huntington Disease-Like 3

Expression for Huntington Disease-Like 3

Search GEO for disease gene expression data for Huntington Disease-Like 3.

Pathways for Huntington Disease-Like 3

GO Terms for Huntington Disease-Like 3

Sources for Huntington Disease-Like 3

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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