HDL3
MCID: HNT011
MIFTS: 37

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 72
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


External Ids:

OMIM 57 604802
ICD10 via Orphanet 34 G10
UMLS via Orphanet 73 C1858114
Orphanet 59 ORPHA157946
MedGen 42 C1858114
UMLS 72 C1858114

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 Calcium have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and endothelial, and related phenotypes are seizures and spasticity

More information from OMIM: 604802

Related Diseases for Huntington Disease-Like 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 huntington disease-like syndrome 12.0
2 huntington disease-like 2 11.0
3 rapidly involuting congenital hemangioma 10.4
4 liver disease 10.3
5 liver cirrhosis 10.3
6 arteries, anomalies of 10.2
7 hypercholesterolemia, familial, 1 10.2
8 hypertriglyceridemia, familial 10.2
9 hyperlipoproteinemia, type iii 10.2
10 coronary artery anomaly 10.2
11 familial hypercholesterolemia 10.2
12 lipid metabolism disorder 10.2
13 coronary heart disease 1 10.2
14 heart disease 10.2
15 familial hyperlipidemia 10.2
16 arteriosclerosis 10.2
17 kidney disease 10.2
18 end stage renal failure 10.2
19 fatty liver disease 10.2
20 atherosclerosis susceptibility 10.0
21 diabetes mellitus, noninsulin-dependent 10.0
22 hyperlipoproteinemia, type iv 10.0
23 hypertension, essential 10.0
24 tangier disease 10.0
25 proteasome-associated autoinflammatory syndrome 1 10.0
26 leukodystrophy, hypomyelinating, 3 10.0
27 huntington disease-like 1 10.0
28 beta-thalassemia 10.0
29 peripheral vascular disease 10.0
30 angina pectoris 10.0
31 bone resorption disease 10.0
32 thalassemia 10.0
33 alcoholic liver cirrhosis 10.0
34 vascular disease 10.0
35 bilirubin metabolic disorder 10.0
36 hepatoblastoma 10.0
37 acute myocardial infarction 10.0
38 sickle cell disease 10.0
39 cytokine deficiency 10.0

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:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
2 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
3 chorea 59 32 frequent (33%) Frequent (79-30%) HP:0002072
4 bowel incontinence 59 32 frequent (33%) Frequent (79-30%) HP:0002607
5 abnormal pyramidal sign 59 32 frequent (33%) Frequent (79-30%) HP:0007256
6 flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0001371
7 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
8 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
9 progressive gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0007240
10 urinary incontinence 59 32 frequent (33%) Frequent (79-30%) HP:0000020
11 extrapyramidal dyskinesia 59 32 frequent (33%) Frequent (79-30%) HP:0007308
12 psychomotor deterioration 59 32 frequent (33%) Frequent (79-30%) HP:0002361
13 extrapyramidal muscular rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0007076
14 abnormal head movements 59 32 frequent (33%) Frequent (79-30%) HP:0002457
15 broad-based gait 59 32 frequent (33%) Frequent (79-30%) HP:0002136
16 mutism 59 32 frequent (33%) Frequent (79-30%) HP:0002300
17 caudate atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002340
18 loss of facial expression 59 32 frequent (33%) Frequent (79-30%) HP:0005327
19 neurological speech impairment 59 32 Frequent (79-30%) HP:0002167
20 abnormality of extrapyramidal motor function 59 32 Frequent (79-30%) HP:0002071
21 ataxia 32 HP:0001251
22 behavioral abnormality 59 Frequent (79-30%)
23 cognitive impairment 59 Frequent (79-30%)
24 mental deterioration 32 HP:0001268
25 unsteady gait 32 HP:0002317
26 frontal cortical atrophy 32 HP:0006913
27 morphological abnormality of the pyramidal tract 32 HP:0002062

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

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 all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atorvastatin Approved Phase 4 134523-00-5 60823
2
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
3 Rosuvastatin Calcium Phase 4 147098-20-2
4 Calcium, Dietary Phase 4
5 Lipid Regulating Agents Phase 4
6 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
7 Anticholesteremic Agents Phase 4
8 Hypolipidemic Agents Phase 4
9 Antimetabolites Phase 4
10
Metformin Approved Phase 3 657-24-9 4091 14219
11
Pioglitazone Approved, Investigational Phase 3 111025-46-8 4829
12 Hypoglycemic Agents Phase 3
13
Norelgestromin Approved, Investigational Phase 2 53016-31-2 13752005
14
Ethinyl Estradiol Approved Phase 2 57-63-6 5991
15
Norgestimate Approved, Investigational Phase 2 35189-28-7 6540478
16
Moxifloxacin Approved, Investigational Phase 2 354812-41-2, 151096-09-2 152946
17
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757
18
Polyestradiol phosphate Approved Phase 2 28014-46-2
19 Contraceptives, Oral Phase 2
20 Estrogens Phase 2
21 Contraceptives, Oral, Combined Phase 2
22 Ortho Evra Phase 2
23 Norgestimate, ethinyl estradiol drug combination Phase 2
24 Hormones Phase 2
25 Antioxidants Phase 2
26 Contraceptive Agents Phase 2
27 Estradiol 17 beta-cypionate Phase 2
28 Anti-Bacterial Agents Phase 2
29 Anti-Infective Agents Phase 2
30 Topoisomerase Inhibitors Phase 2
31 Hormone Antagonists Phase 2
32 Estradiol 3-benzoate Phase 2
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
34 Tranquilizing Agents Phase 2
35 Omega 3 Fatty Acid Phase 2
36 Soy Bean Phase 2
37 Antidepressive Agents Phase 2
38 Central Nervous System Depressants Phase 2
39 Antipsychotic Agents Phase 2
40 Psychotropic Drugs Phase 2
41 Antimanic Agents Phase 2
42 Olive
43 insulin
44 Insulin, Globin Zinc

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Effect of Rosuvastatin Therapy on HDL2 Level and Antiatherosclerotic Reverse Cholesterol Transport Process in Chinses CAD Patients With Hyperlipidemia Unknown status NCT02593487 Phase 4 Rosuvastatin 10mg/d group;Rosuvastatin 20mg/d group
2 Atorvastatin Action on Oxidative Stress and Inflammation in Type II Diabetes: The HDL Particle Protection Study Completed NCT02125682 Phase 4 atovastatin 10 mg/day;Atorvastatin 80 mg/day
3 Effects of Pioglitazone on Reverse Cholesterol Transport and HDL Function in Persons With Diabetes Completed NCT01156597 Phase 3 pioglitazone
4 Comparison of Oral and Patch Forms of Hormonal Contraception on Plasma Lipoproteins, Glycemia, Clotting Factors, Indices of Inflammation and Vascular Reactivity Unknown status NCT00439972 Phase 2 Ortho-Cyclen (R);Ortho Evra (R);extended use of Ortho Evra (R)
5 CAD Risk in Schizophrenia: Effect of Omega-3 Fatty Acid Supplementation Completed NCT00167310 Phase 2 Eicosapentaenoic acid (omega-3 fatty acid);Placebo
6 Lipoprotein Subfractions and Coronary Heart Disease During 25 Year Follow-up Completed NCT00005215
7 Genetic Epidemiology of CHD Risk Factors in Blacks Completed NCT00005364
8 Clinical Study to Assess the Acute and Chronic Effects of a High-DHA Fish Oil on Fasting and Post-Prandial Biomarkers of Cardiovascular Disease Risk in Adults on Statin Therapy. Completed NCT01690312
9 Effects of CHD Prevention on Lipoprotein Subclasses Completed NCT00005426
10 Cardiovascular Risk Profile Among Mexican-Americans Completed NCT00005187
11 Dietary Fat, Plasma Lipids, and Other CHD Risk Factors Completed NCT00005532
12 Epidemiology of Genetic Factors in Lipid Metabolism Completed NCT00005214
13 The Association of SAA With Apolipoprotein B Affects Cardiovascular Risk Completed NCT02770872
14 Study on the Relationship Between the Change of Cholesterol Efflux Capacity and the Prognosis of Coronary Artery Disease in Real Clinical Practice Not yet recruiting NCT03389529

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
Heart, Liver, Endothelial, Smooth Muscle, Adipocyte, Skin, Eye

Publications for Huntington Disease-Like 3

Articles related to Huntington Disease-Like 3:

(show top 50) (show all 2116)
# Title Authors PMID Year
1
A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion. 8
11761463 2001
2
Interpretation of linkage data for a Huntington-like disorder mapping to 4p15.3. 8
10848501 2000
3
Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3. 8
10677304 2000
4
A novel autosomal recessive "Huntington's disease-like" neurodegenerative disorder in a Saudi family. 8
27605280 1999
5
High prevalence of gallstone disease in rheumatoid arthritis: A new comorbidity related to dyslipidemia? 38
28778575 2019
6
HDL subclasses and mortality in acute heart failure patients. 38
30578754 2019
7
Higher High Density Lipoprotein 2 (HDL2) to Total HDL Cholesterol Ratio Is Associated with a Lower Risk for Incident Hypertension. 38
30302964 2019
8
Lipoprotein Subfractions and Glucose Homeostasis in Prediabetes and Diabetes in Taiwan. 38
30726792 2019
9
HDL3-C is a marker of coronary artery disease severity and inflammation in patients on statin therapy. 38
30626544 2018
10
The association between Hepcidin and arterial stiffness in a community-dwelling population. 38
30373612 2018
11
HDL impairs osteoclastogenesis and induces osteoclast apoptosis via upregulation of ABCG1 expression. 38
30060101 2018
12
Activity of paraoxonase 1 (PON1) on HDL2 and HDL3 subclasses in renal disease. 38
30130521 2018
13
Pathophysiology of Diabetic Dyslipidemia. 38
29998913 2018
14
Acute coronary syndrome remodels the antiplatelet aggregation properties of HDL particle subclasses. 38
29543379 2018
15
Impact of high-density lipoprotein 3 cholesterol subfraction on periprocedural myocardial injury in patients who underwent elective percutaneous coronary intervention. 38
29391013 2018
16
Association of High-Density Lipoprotein Subclasses with Carotid Intima-Media Thickness: Shimane CoHRE Study. 38
28450678 2018
17
High-density lipoprotein 3 cholesterol is a predictive factor for arterial stiffness: a community-based 4.8-year prospective study. 38
29304861 2018
18
Small dense HDLs display potent vasorelaxing activity, reflecting their elevated content of sphingosine-1-phosphate. 38
29150495 2018
19
Linseed oil increases HDL3 cholesterol and decreases blood pressure in patients diagnosed with mild hypercholesterolaemia. 38
29688571 2018
20
Phosphatidylcholine and phosphatidylethanolamine plasmalogens in lipid loaded human macrophages. 38
30308051 2018
21
Antioxidative activity of high-density lipoprotein (HDL): Mechanistic insights into potential clinical benefit. 38
28936395 2017
22
ABCA1 and HDL3 are required to modulate smooth muscle cells phenotypic switch after cholesterol loading. 38
28946038 2017
23
Protein changes in non-LDL-lipoproteins in familial hypercholesterolemia: implications in cardiovascular disease manifestation and outcome. 38
28682808 2017
24
Association of pre-pregnancy body mass index with offspring metabolic profile: Analyses of 3 European prospective birth cohorts. 38
28829768 2017
25
Optical Properties of Europium Tetracycline Complexes in the Presence of High-Density Lipoproteins (HDL) Subfractions. 38
27956595 2017
26
Featured Article: Depletion of HDL3 high density lipoprotein and altered functionality of HDL2 in blood from sickle cell patients. 38
28436274 2017
27
Different inverse association of large high-density lipoprotein subclasses with exacerbation of insulin resistance and incidence of type 2 diabetes: The Nagahama study. 38
28365559 2017
28
The effect of weight loss on HDL subfractions and LCAT activity in two genotypes of APOA-II -265T>C polymorphism. 38
28545455 2017
29
Extended-release niacin increases anti-apolipoprotein A-I antibodies that block the antioxidant effect of high-density lipoprotein-cholesterol: the EXPLORE clinical trial. 38
27891663 2017
30
Tobacco Smoke Exposure Reduces Paraoxonase Activity in a Murine Model. 38
28533733 2017
31
Relationship between circulating microRNA-30c with total- and LDL-cholesterol, their circulatory transportation and effect of statins. 38
28062296 2017
32
Feedback inhibition of CREB signaling by p38 MAPK contributes to the negative regulation of steroidogenesis. 38
28302174 2017
33
ABCA1/ApoE/HDL Pathway Mediates GW3965-Induced Neurorestoration After Stroke. 38
28028143 2017
34
The causal effects of alcohol on lipoprotein subfraction and triglyceride levels using a Mendelian randomization analysis: The Nagahama study. 38
28038378 2017
35
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. 38
28596970 2017
36
Do HDL and LDL subfractions play a role in atherosclerosis in end-stage renal disease (ESRD) patients? 38
27942970 2017
37
High-Density Lipoprotein Subfractions and Cholesterol Efflux Capacity Are Not Affected by Supervised Exercise but Are Associated with Baseline Interleukin-6 in Patients with Peripheral Artery Disease. 38
28303243 2017
38
Small HDL subclasses become cholesterol-poor during postprandial period after a fat diet intake in subjects with high triglyceridemia increases. 38
27847194 2017
39
Peripheral blood mitochondrial DNA content in relation to circulating metabolites and inflammatory markers: A population study. 38
28704533 2017
40
Dapagliflozin decreases small dense low-density lipoprotein-cholesterol and increases high-density lipoprotein 2-cholesterol in patients with type 2 diabetes: comparison with sitagliptin. 38
28086872 2017
41
Pharmacological Intervention to Modulate HDL: What Do We Target? 38
29403378 2017
42
Impaired HDL2-mediated cholesterol efflux is associated with metabolic syndrome in families with early onset coronary heart disease and low HDL-cholesterol level. 38
28207870 2017
43
Statin action enriches HDL3 in polyunsaturated phospholipids and plasmalogens and reduces LDL-derived phospholipid hydroperoxides in atherogenic mixed dyslipidemia. 38
27581680 2016
44
Serum Lipid Transfer Proteins in Hypothyreotic Patients Are Inversely Correlated with Thyroid-Stimulating Hormone (TSH) Levels. 38
27899788 2016
45
Association of lipid profile with serum PON1 concentration in patients with chronic kidney disease. 38
26888625 2016
46
Exercise raises high-density lipoprotein cholesterol in men after consumption of ground beef with a high but not low monounsaturated fatty acid-saturated fatty acid ratio. 38
27632917 2016
47
Relationship of baseline HDL subclasses, small dense LDL and LDL triglyceride to cardiovascular events in the AIM-HIGH clinical trial. 38
27320173 2016
48
Effects of serum amyloid A on the structure and antioxidant ability of high-density lipoprotein. 38
27422844 2016
49
Subfractions of High-Density Lipoprotein-Cholesterol and Carotid Intima-Media Thickness: The Northern Manhattan Study. 38
27165951 2016
50
HDL2/HDL3 Ratio Changes, Metabolic Syndrome Markers, and Other Factors in a Japanese Population. 38
26686740 2016

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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