HDL3
MCID: HNT011
MIFTS: 40

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 58 60 13 74
Hdl3 58 60
Huntington Disease-Like Neurodegenerative Disorder, Autosomal Recessive 58

Characteristics:

Orphanet epidemiological data:

60
huntington disease-like 3
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at age 3-5 years


HPO:

33
huntington disease-like 3:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
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 abnormality of extrapyramidal motor function. An important gene associated with Huntington Disease-Like 3 is HDL3 (Huntington-Like Neurodegenerative Disorder 2). The drugs Atorvastatin and Pitavastatin have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and endothelial, and related phenotypes are seizures and spasticity

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

Human phenotypes related to Huntington Disease-Like 3:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
2 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
3 chorea 60 33 frequent (33%) Frequent (79-30%) HP:0002072
4 bowel incontinence 60 33 frequent (33%) Frequent (79-30%) HP:0002607
5 abnormal pyramidal sign 60 33 frequent (33%) Frequent (79-30%) HP:0007256
6 flexion contracture 60 33 frequent (33%) Frequent (79-30%) HP:0001371
7 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
8 cerebral cortical atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002120
9 progressive gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0007240
10 urinary incontinence 60 33 frequent (33%) Frequent (79-30%) HP:0000020
11 psychomotor deterioration 60 33 frequent (33%) Frequent (79-30%) HP:0002361
12 extrapyramidal muscular rigidity 60 33 frequent (33%) Frequent (79-30%) HP:0007076
13 abnormal head movements 60 33 frequent (33%) Frequent (79-30%) HP:0002457
14 broad-based gait 60 33 frequent (33%) Frequent (79-30%) HP:0002136
15 mutism 60 33 frequent (33%) Frequent (79-30%) HP:0002300
16 caudate atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002340
17 loss of facial expression 60 33 frequent (33%) Frequent (79-30%) HP:0005327
18 extrapyramidal dyskinesia 60 33 frequent (33%) Frequent (79-30%) HP:0007308
19 neurological speech impairment 60 33 Frequent (79-30%) HP:0002167
20 abnormality of extrapyramidal motor function 60 33 Frequent (79-30%) HP:0002071
21 ataxia 33 HP:0001251
22 behavioral abnormality 60 Frequent (79-30%)
23 cognitive impairment 60 Frequent (79-30%)
24 mental deterioration 33 HP:0001268
25 unsteady gait 33 HP:0002317
26 frontal cortical atrophy 33 HP:0006913
27 morphological abnormality of the pyramidal tract 33 HP:0002062

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
ataxia
spasticity
chorea
dystonia
more
Genitourinary Bladder:
incontinence

Abdomen Gastrointestinal:
incontinence

Skeletal Limbs:
contractures

Clinical features from OMIM:

604802

UMLS symptoms related to Huntington Disease-Like 3:


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

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 82)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atorvastatin Approved Phase 4,Phase 3 134523-00-5 60823
2
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 5282452 6366718
3
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
4
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
5
Methyltestosterone Approved Phase 4 58-18-4 6010
6
Testosterone enanthate Approved Phase 4 315-37-7 9416
7
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 10204 6013
8
Calcium Approved, Nutraceutical Phase 4,Phase 3 7440-70-2 271
9
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
11 Rosuvastatin Calcium Phase 4,Phase 3 147098-20-2
12 Antimetabolites Phase 4,Phase 3,Phase 2,Not Applicable
13 Anticholesteremic Agents Phase 4,Phase 3,Phase 2,Not Applicable
14 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
15 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
16 Calcium, Dietary Phase 4,Phase 3
17 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Not Applicable
18 Nicotinic Acids Phase 4
19 Trace Elements Phase 4
20 Vitamin B9 Phase 4
21 Vasodilator Agents Phase 4
22 Vitamin B Complex Phase 4
23 Vitamin B3 Phase 4
24 Vitamins Phase 4
25 Folate Phase 4
26 Nutrients Phase 4,Not Applicable
27 Micronutrients Phase 4
28 Hormone Antagonists Phase 4,Phase 3
29 Antineoplastic Agents, Hormonal Phase 4
30 Anabolic Agents Phase 4
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
32 Testosterone 17 beta-cypionate Phase 4
33 Hormones Phase 4,Phase 3
34 Androgens Phase 4
35
Rimonabant Approved, Investigational Phase 3 168273-06-1, 158681-13-1 104850
36
Ezetimibe Approved Phase 3 163222-33-1 150311
37
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
38
Levonorgestrel Approved, Investigational Phase 3 797-63-7, 17489-40-6 13109
39
Polyestradiol phosphate Approved Phase 3 28014-46-2
40
Racepinephrine Approved Phase 3 329-65-7 838
41
Epinephrine Approved, Vet_approved Phase 3 51-43-4 5816
42
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
43
Glipizide Approved, Investigational Phase 3 29094-61-9 3478
44
Rosiglitazone Approved, Investigational Phase 3 122320-73-4 77999
45
Simvastatin Approved Phase 3 79902-63-9 54454
46
Bazedoxifene Approved, Investigational Phase 3 198481-32-2
47
Maleic acid Experimental, Investigational Phase 3 110-17-8, 110-16-7 444972
48 Anti-Obesity Agents Phase 3
49 Neurotransmitter Agents Phase 3
50 Cannabinoid Receptor Antagonists Phase 3

Interventional clinical trials:

(show all 27)
# 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 An Efficacy and Safety Study of Ezetimibe (MK-0653, SCH 58235) in Addition to Atorvastatin Compared to Placebo in Participants With Primary Hypercholesterolemia (MK-0653-013) Completed NCT03867110 Phase 3 Placebo;Ezetimibe 10 mg;Atorvastatin 10 mg;Atorvastatin 20 mg;Atorvastatin 40 mg;Atorvastatin 80 mg
10 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
11 Rosiglitazone Versus a Sulfonylurea On Progression Of Atherosclerosis In Patients With Heart Disease And Type 2 Diabetes Completed NCT00116831 Phase 3 Glipizide;rosiglitazone maleate
12 Ezetimibe (SCH 58235) Taken With Either Atorvastatin or Simvastatin in Participants With Familial Hypercholesterolemia (MK-0653-018) Completed NCT03884452 Phase 3 Atorvastatin;Simvastatin;Ezetimibe;Placebo for Ezetimibe
13 High Density Lipoprotein Turnover Terminated NCT00408148 Phase 3 Placebo;Rimonabant
14 Study Evaluating Bazedoxifene Acetate In Osteoporosis In Postmenopausal Women Completed NCT00205777 Phase 3 Bazedoxifene Acetate
15 Barley Protein and CVD Completed NCT00334308 Phase 2
16 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
17 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
18 Low Carbohydrate Portfolio or "Eco-Atkins" Diet Completed NCT00256516 Phase 2
19 Role of Ajwa Derived Polyphenols in Dyslipidaemias Recruiting NCT03805139 Not Applicable
20 Effects of Polyphenolic-rich Dark Chocolate/Cocoa and Almonds on Cardiovascular Disease Risk Factors Completed NCT01882881 Not Applicable
21 Effects of Walnuts on Central Blood Pressure, Arterial Stiffness Indices, Lipoproteins, and Other CVD Risk Factors Completed NCT02210767 Not Applicable
22 EPA Supplementation on Vascular Inflammation, and Gene Expression of PON2 in Patients With Type II Diabetes Mellitus Completed NCT03258840 Not Applicable
23 the Change of Cholesterol Efflux Capacity and Coronary Artery Disease in Real Clinical Practice Not yet recruiting NCT03389529
24 Clinical Study to Assess High-DHA Fish Oil on Biomarkers of Cardiovascular Disease Risk in Adults on Statin Therapy Completed NCT01690312 Not Applicable
25 Effect of a Spice Blend on Cardiovascular Risk Factors and Diet Satisfaction Recruiting NCT03064932 Not Applicable
26 Dietary Protein Sources and Atherogenic Dyslipidemia Completed NCT01427855 Not Applicable
27 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:

42
Liver, Heart, Endothelial, Bone, Thyroid, Skin, Smooth Muscle

Publications for Huntington Disease-Like 3

Articles related to Huntington Disease-Like 3:

(show top 50) (show all 179)
# Title Authors Year
1
Linseed oil increases HDL3 cholesterol and decreases blood pressure in patients diagnosed with mild hypercholesterolaemia. ( 29688571 )
2018
2
Activity of paraoxonase 1 (PON1) on HDL2 and HDL3 subclasses in renal disease. ( 30130521 )
2018
3
HDL3-C is a marker of coronary artery disease severity and inflammation in patients on statin therapy. ( 30626544 )
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
Serum- and HDL3-serum amyloid A and HDL3-LCAT activity are influenced by increased CVD-burden. ( 26647373 )
2016
8
HDL2/HDL3 Ratio Changes, Metabolic Syndrome Markers, and Other Factors in a Japanese Population. ( 26686740 )
2016
9
Statin action enriches HDL3 in polyunsaturated phospholipids and plasmalogens and reduces LDL-derived phospholipid hydroperoxides in atherogenic mixed dyslipidemia. ( 27581680 )
2016
10
Defective functionality of small, dense HDL3 subpopulations in ST segment elevation myocardial infarction: Relevance of enrichment in lysophosphatidylcholine, phosphatidic acid and serum amyloid A. ( 26037829 )
2015
11
Chemical modification of high density lipoprotein subfractions - HDL2 and HDL3 - after use of atorvastatin. ( 24548977 )
2014
12
OxLDL induces endothelial dysfunction and death via TRAF3IP2: inhibition by HDL3 and AMPK activators. ( 24561578 )
2014
13
15-lipoxygenase-mediated modification of HDL3 impairs eNOS activation in human endothelial cells. ( 24570151 )
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
HDL3 stimulates paraoxonase 1 antiatherogenic catalytic and biological activities in a macrophage model system: in vivo and in vitro studies. ( 25230879 )
2014
16
α-Tocopherol induces proatherogenic changes to HDL2 & HDL3: an in vitro and ex vivo investigation. ( 23287638 )
2013
17
Lower levels of total HDL and HDL3 cholesterol are associated with albuminuria in normoalbuminuric Type 1 diabetic patients. ( 23404243 )
2013
18
Validation of a novel homogeneous assay for of HDL3-C measurement. ( 23891742 )
2013
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
Associations between small dense LDL, HDL subfractions (HDL2, HDL3) and risk of atherosclerosis in Japanese-Americans. ( 22659528 )
2012
21
Prospective study of coronary heart disease vs. HDL2, HDL3, and other lipoproteins in Gofman's Livermore Cohort. ( 21109246 )
2011
22
Blood pressure-lowering response to amlodipine as a determinant of the antioxidative activity of small, dense HDL3. ( 21699274 )
2011
23
HDL3, but not HDL2, stimulates plasminogen activator inhibitor-1 release from adipocytes: the role of sphingosine-1-phosphate. ( 20522601 )
2010
24
Relationship between HDL3 subclasses and waist circumferences on the prevalence of metabolic syndrome: KMSRI-Seoul Study. ( 20832067 )
2010
25
Ezetimibe decreases serum amyloid A levels in HDL3 in hemodialysis patients. ( 20875380 )
2010
26
Torcetrapib differentially modulates the biological activities of HDL2 and HDL3 particles in the reverse cholesterol transport pathway. ( 19038848 )
2009
27
HDL3-mediated inactivation of LDL-associated phospholipid hydroperoxides is determined by the redox status of apolipoprotein A-I and HDL particle surface lipid rigidity: relevance to inflammation and atherogenesis. ( 19762782 )
2009
28
HDL3 reduces the association and modulates the metabolism of oxidized LDL by osteoblastic cells: a protection against cell death. ( 18980242 )
2008
29
Metformin increases HDL3-cholesterol and decreases subcutaneous truncal fat in nondiabetic patients with HIV-associated lipodystrophy. ( 18800870 )
2008
30
Fatty liver is independently associated with alterations in circulating HDL2 and HDL3 subfractions. ( 18000185 )
2008
31
Scavenger receptor of class B expressed by osteoblastic cells are implicated in the uptake of cholesteryl ester and estradiol from LDL and HDL3. ( 17967141 )
2008
32
Metabolic syndrome features small, apolipoprotein A-I-poor, triglyceride-rich HDL3 particles with defective anti-apoptotic activity. ( 17868679 )
2008
33
Serum lecithin: cholesterol acyltransferase activity, HDL2 and HDL3 composition in hypertensive mothers and their small for gestational age newborns. ( 17605041 )
2008
34
Albumin-bound quercetin repairs vitamin E oxidized by apolipoprotein radicals in native HDL3 and LDL. ( 18004880 )
2007
35
Preferential sphingosine-1-phosphate enrichment and sphingomyelin depletion are key features of small dense HDL3 particles: relevance to antiapoptotic and antioxidative activities. ( 17569880 )
2007
36
Modification of HDL3 by mild oxidative stress increases ATP-binding cassette transporter 1-mediated cholesterol efflux. ( 17524375 )
2007
37
Beyond HDL-cholesterol increase: phospholipid enrichment and shift from HDL3 to HDL2 in alcohol consumers. ( 17431276 )
2007
38
Interplay of oxygen, vitamin E, and carotenoids in radical reactions following oxidation of Trp and Tyr residues in native HDL3 apolipoproteins. Comparison with LDL. A time-resolved spectroscopic analysis. ( 17411073 )
2007
39
Triglyceride-rich HDL3 from patients with familial hypercholesterolemia are less able to inhibit cytokine release or to promote cholesterol efflux. ( 16549444 )
2006
40
Oxidized-HDL3 modulates the expression of Cox-2 in human endothelial cells. ( 16786175 )
2006
41
Effects of bezafibrate on HDL2/HDL3 ratio in postmenopausal hypertriglyceridemic women. ( 16891292 )
2006
42
Fish protein improves blood pressure but alters HDL2 and HDL3 composition and tissue lipoprotein lipase activities in spontaneously hypertensive rats. ( 15309459 )
2005
43
Evaluation of serum lipids and high-density lipoprotein subfractions (HDL2, HDL3) in postmenopausal patients with breast cancer. ( 15724433 )
2005
44
Defective antioxidative activity of small dense HDL3 particles in type 2 diabetes: relationship to elevated oxidative stress and hyperglycaemia. ( 15729582 )
2005
45
The HDL2/HDL3 ratio in menopause. ( 15733886 )
2005
46
Genome-wide linkage analyses and candidate gene fine mapping for HDL3 cholesterol: the Framingham Study. ( 15805549 )
2005
47
Altered composition of HDL3 in FH subjects causing a HDL subfraction with less atheroprotective function. ( 15936009 )
2005
48
Both HDL3 and HDL2 exert a powerful anti-oxidative and protective effect against acceleration of oxidative modification of LDL by ascorbic acid. ( 16022192 )
2005
49
HDL3 induces cyclooxygenase-2 expression and prostacyclin release in human endothelial cells via a p38 MAPK/CRE-dependent pathway: effects on COX-2/PGI-synthase coupling. ( 15001457 )
2004
50
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

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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