HDL3
MCID: HNT011
MIFTS: 38

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 56 58 13 71
Hdl3 56 58
Huntington Disease-Like Neurodegenerative Disorder, Autosomal Recessive 56

Characteristics:

Orphanet epidemiological data:

58
huntington disease-like 3
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset at age 3-5 years


HPO:

31
huntington disease-like 3:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
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 Rosuvastatin Calcium have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and endothelial, and related phenotypes are flexion contracture and abnormal pyramidal sign

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 38)
# Related Disease Score Top Affiliating Genes
1 huntington disease-like syndrome 12.0
2 huntington disease-like 2 11.0
3 liver disease 10.3
4 liver cirrhosis 10.3
5 rapidly involuting congenital hemangioma 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 lipoprotein quantitative trait locus 10.2
11 familial hypercholesterolemia 10.2
12 lipid metabolism disorder 10.2
13 heart disease 10.2
14 familial hyperlipidemia 10.2
15 arteriosclerosis 10.2
16 kidney disease 10.2
17 end stage renal disease 10.2
18 fatty liver disease 10.2
19 atherosclerosis susceptibility 10.0
20 diabetes mellitus, noninsulin-dependent 10.0
21 hyperlipoproteinemia, type iv 10.0
22 hypertension, essential 10.0
23 tangier disease 10.0
24 proteasome-associated autoinflammatory syndrome 1 10.0
25 huntington disease-like 1 10.0
26 coronary heart disease 1 10.0
27 beta-thalassemia 10.0
28 peripheral vascular disease 10.0
29 angina pectoris 10.0
30 bone resorption disease 10.0
31 thalassemia 10.0
32 alcoholic liver cirrhosis 10.0
33 vascular disease 10.0
34 bilirubin metabolic disorder 10.0
35 hepatoblastoma 10.0
36 acute myocardial infarction 10.0
37 sickle cell disease 10.0
38 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:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0001371
2 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
3 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
4 bowel incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0002607
5 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
6 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
7 chorea 58 31 frequent (33%) Frequent (79-30%) HP:0002072
8 broad-based gait 58 31 frequent (33%) Frequent (79-30%) HP:0002136
9 psychomotor deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0002361
10 progressive gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0007240
11 extrapyramidal muscular rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0007076
12 urinary incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0000020
13 mutism 58 31 frequent (33%) Frequent (79-30%) HP:0002300
14 extrapyramidal dyskinesia 58 31 frequent (33%) Frequent (79-30%) HP:0007308
15 caudate atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002340
16 loss of facial expression 58 31 frequent (33%) Frequent (79-30%) HP:0005327
17 abnormal head movements 58 31 frequent (33%) Frequent (79-30%) HP:0002457
18 seizure 31 frequent (33%) HP:0001250
19 neurological speech impairment 58 31 Frequent (79-30%) HP:0002167
20 abnormality of extrapyramidal motor function 58 31 Frequent (79-30%) HP:0002071
21 behavioral abnormality 58 Frequent (79-30%)
22 seizures 58 Frequent (79-30%)
23 cognitive impairment 58 Frequent (79-30%)
24 ataxia 31 HP:0001251
25 mental deterioration 31 HP:0001268
26 unsteady gait 31 HP:0002317
27 frontal cortical atrophy 31 HP:0006913
28 morphological abnormality of the pyramidal tract 31 HP:0002062

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spasticity
ataxia
mental deterioration
dystonia
more
Abdomen Gastrointestinal:
fecal incontinence

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

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 Effects of CHD Prevention on Lipoprotein Subclasses Completed NCT00005426
9 Cardiovascular Risk Profile Among Mexican-Americans Completed NCT00005187
10 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
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:

40
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 2125)
# Title Authors PMID Year
1
A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion. 56
11761463 2001
2
Interpretation of linkage data for a Huntington-like disorder mapping to 4p15.3. 56
10848501 2000
3
Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3. 56
10677304 2000
4
A novel autosomal recessive "Huntington's disease-like" neurodegenerative disorder in a Saudi family. 56
27605280 1999
5
HDL Subclass Analysis in Predicting Metabolic Syndrome in Koreans With High HDL Cholesterol Levels. 61
32067428 2020
6
HDL-related biomarkers are robust predictors of survival in patients with chronic liver failure. 61
32061870 2020
7
Glucocorticoids impair HDL-mediated cholesterol efflux besides increased HDL cholesterol concentration - a proof of concept. 61
32570209 2020
8
ABCA1/ApoE/HDL Signaling Pathway Facilitates Myelination and Oligodendrogenesis after Stroke. 61
32575457 2020
9
Small Dense Low-Density Lipoprotein Cholesterol and Carotid Intimal Medial Thickness Progression. 61
32281547 2020
10
Cross-linking modifications of HDL apoproteins by oxidized phospholipids: structural characterization, in vivo detection, and functional implications. 61
31907281 2020
11
Transcriptomics Reveal Altered Metabolic and Signaling Pathways in Podocytes Exposed to C16 Ceramide-Enriched Lipoproteins. 61
32045989 2020
12
HDL3-C is a Marker of Coronary Artery Disease Severity and Inflammation in Patients on Statin Therapy. 61
30626544 2019
13
Lipoprotein Subfractions and Glucose Homeostasis in Prediabetes and Diabetes in Taiwan. 61
30726792 2019
14
The cardiovascular phenotype of adult patients with phenylketonuria. 61
31492166 2019
15
1H NMR spectroscopy quantifies visibility of lipoproteins, subclasses, and lipids at varied temperatures and pressures. 61
31239285 2019
16
High prevalence of gallstone disease in rheumatoid arthritis: A new comorbidity related to dyslipidemia? 61
28778575 2019
17
HDL subclasses and mortality in acute heart failure patients. 61
30578754 2019
18
Higher High Density Lipoprotein 2 (HDL2) to Total HDL Cholesterol Ratio Is Associated with a Lower Risk for Incident Hypertension. 61
30302964 2019
19
The association between Hepcidin and arterial stiffness in a community-dwelling population. 61
30373612 2018
20
Activity of paraoxonase 1 (PON1) on HDL2 and HDL3 subclasses in renal disease. 61
30130521 2018
21
HDL impairs osteoclastogenesis and induces osteoclast apoptosis via upregulation of ABCG1 expression. 61
30060101 2018
22
Pathophysiology of Diabetic Dyslipidemia. 61
29998913 2018
23
Acute coronary syndrome remodels the antiplatelet aggregation properties of HDL particle subclasses. 61
29543379 2018
24
Impact of high-density lipoprotein 3 cholesterol subfraction on periprocedural myocardial injury in patients who underwent elective percutaneous coronary intervention. 61
29391013 2018
25
Linseed oil increases HDL3 cholesterol and decreases blood pressure in patients diagnosed with mild hypercholesterolaemia. 61
29688571 2018
26
Association of High-Density Lipoprotein Subclasses with Carotid Intima-Media Thickness: Shimane CoHRE Study. 61
28450678 2018
27
High-density lipoprotein 3 cholesterol is a predictive factor for arterial stiffness: a community-based 4.8-year prospective study. 61
29304861 2018
28
Phosphatidylcholine and phosphatidylethanolamine plasmalogens in lipid loaded human macrophages. 61
30308051 2018
29
Small dense HDLs display potent vasorelaxing activity, reflecting their elevated content of sphingosine-1-phosphate. 61
29150495 2018
30
Antioxidative activity of high-density lipoprotein (HDL): Mechanistic insights into potential clinical benefit. 61
28936395 2017
31
ABCA1 and HDL3 are required to modulate smooth muscle cells phenotypic switch after cholesterol loading. 61
28946038 2017
32
Protein changes in non-LDL-lipoproteins in familial hypercholesterolemia: implications in cardiovascular disease manifestation and outcome. 61
28682808 2017
33
Association of pre-pregnancy body mass index with offspring metabolic profile: Analyses of 3 European prospective birth cohorts. 61
28829768 2017
34
Optical Properties of Europium Tetracycline Complexes in the Presence of High-Density Lipoproteins (HDL) Subfractions. 61
27956595 2017
35
Featured Article: Depletion of HDL3 high density lipoprotein and altered functionality of HDL2 in blood from sickle cell patients. 61
28436274 2017
36
Different inverse association of large high-density lipoprotein subclasses with exacerbation of insulin resistance and incidence of type 2 diabetes: The Nagahama study. 61
28365559 2017
37
Extended-release niacin increases anti-apolipoprotein A-I antibodies that block the antioxidant effect of high-density lipoprotein-cholesterol: the EXPLORE clinical trial. 61
27891663 2017
38
The effect of weight loss on HDL subfractions and LCAT activity in two genotypes of APOA-II -265T>C polymorphism. 61
28545455 2017
39
Tobacco Smoke Exposure Reduces Paraoxonase Activity in a Murine Model. 61
28533733 2017
40
Feedback inhibition of CREB signaling by p38 MAPK contributes to the negative regulation of steroidogenesis. 61
28302174 2017
41
Relationship between circulating microRNA-30c with total- and LDL-cholesterol, their circulatory transportation and effect of statins. 61
28062296 2017
42
ABCA1/ApoE/HDL Pathway Mediates GW3965-Induced Neurorestoration After Stroke. 61
28028143 2017
43
The causal effects of alcohol on lipoprotein subfraction and triglyceride levels using a Mendelian randomization analysis: The Nagahama study. 61
28038378 2017
44
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. 61
28596970 2017
45
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. 61
28303243 2017
46
Do HDL and LDL subfractions play a role in atherosclerosis in end-stage renal disease (ESRD) patients? 61
27942970 2017
47
Small HDL subclasses become cholesterol-poor during postprandial period after a fat diet intake in subjects with high triglyceridemia increases. 61
27847194 2017
48
Dapagliflozin decreases small dense low-density lipoprotein-cholesterol and increases high-density lipoprotein 2-cholesterol in patients with type 2 diabetes: comparison with sitagliptin. 61
28086872 2017
49
Impaired HDL2-mediated cholesterol efflux is associated with metabolic syndrome in families with early onset coronary heart disease and low HDL-cholesterol level. 61
28207870 2017
50
Pharmacological Intervention to Modulate HDL: What Do We Target? 61
29403378 2017

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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