MCID: HNT011
MIFTS: 30

Huntington Disease-Like 3

Categories: Neuronal diseases, Rare diseases, Genetic 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 endotheliitis, and has symptoms including ataxia, muscle spasticity and seizures. An important gene associated with Huntington Disease-Like 3 is HDL3 (Huntington-Like Neurodegenerative Disorder 2). The drugs Pitavastatin and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include thyroid, heart and bone, and related phenotypes are urinary incontinence and seizures

Description 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 11)
# Related Disease Score Top Affiliating Genes
1 huntington disease-like syndrome 10.9
2 endotheliitis 10.2
3 hypercholesterolemia, familial 9.8
4 hyperlipoproteinemia, type iv 9.8
5 myocardial infarction 9.8
6 alcoholic liver cirrhosis 9.8
7 hepatitis 9.8
8 liver cirrhosis 9.8
9 liver disease 9.8
10 mucositis 9.8
11 type i 9.8

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

UMLS symptoms related to Huntington Disease-Like 3:


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

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 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 6366718 5282452
2
Methyltestosterone Approved Phase 4 58-18-4 6010
3
Testosterone Approved, Investigational Phase 4 58-22-0 6013
4
Testosterone enanthate Approved Phase 4 315-37-7 9416
5
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
6
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
7
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
8
Nicotinamide Approved, Investigational, Nutraceutical Phase 4 98-92-0 936
9 Anticholesteremic Agents Phase 4,Phase 3,Phase 2,Not Applicable
10 Antimetabolites Phase 4,Phase 3,Phase 2,Not Applicable
11 Calcium, Dietary Phase 4,Phase 3
12 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
13 Hypolipidemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
14 Lipid Regulating Agents Phase 4,Phase 3,Phase 2,Not Applicable
15 Rosuvastatin Calcium Phase 4,Phase 3 147098-20-2
16 Atorvastatin Calcium Phase 4 134523-03-8
17 Micronutrients Phase 4
18 Nicotinic Acids Phase 4
19 Trace Elements Phase 4
20 Vasodilator Agents Phase 4
21 Vitamin B Complex Phase 4
22 Vitamins Phase 4
23 Anabolic Agents Phase 4
24 Androgens Phase 4
25 Antineoplastic Agents, Hormonal Phase 4
26 decanoic acid Phase 4
27 Hormone Antagonists Phase 4,Phase 3
28 Hormones Phase 4,Phase 3
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
30 Testosterone 17 beta-cypionate Phase 4
31 Folate Nutraceutical Phase 4
32 Vitamin B3 Nutraceutical Phase 4
33 Vitamin B9 Nutraceutical Phase 4
34
Rimonabant Approved, Investigational Phase 3 168273-06-1, 158681-13-1 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 Estradiol valerate Approved, Investigational, Vet_approved Phase 3 979-32-8
38
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
39
Levonorgestrel Approved, Investigational Phase 3 797-63-7, 17489-40-6 13109
40
Polyestradiol phosphate Approved Phase 3 28014-46-2
41
Racepinephrine Approved Phase 3 329-65-7 838
42
Glipizide Approved, Investigational Phase 3 29094-61-9 3478
43
Rosiglitazone Approved, Investigational Phase 3 122320-73-4 77999
44
Bazedoxifene Approved, Investigational Phase 3 198481-32-2
45
Maleic acid Experimental Phase 3 110-16-7 444266
46 Cannabinoid Receptor Antagonists Phase 3
47 Neurotransmitter Agents Phase 3
48 Coagulants Phase 3
49 Contraceptive Agents Phase 3
50 Contraceptives, Oral Phase 3

Interventional clinical trials:

(show all 23)
# 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 Atorvastatin and LDL Profile in Non-Insulin Dependent Diabetes Mellitus Terminated NCT00640549 Phase 4 Atorvastatin;Placebo
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 Study Evaluating Bazedoxifene Acetate In Osteoporosis In Postmenopausal Women Completed NCT00205777 Phase 3 Bazedoxifene Acetate
12 High Density Lipoprotein Turnover Terminated NCT00408148 Phase 3 Placebo;Rimonabant
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 Effects of Polyphenolic-rich Dark Chocolate/Cocoa and Almonds on Cardiovascular Disease Risk Factors Completed NCT01882881 Not Applicable
18 Effects of Walnuts on Central Blood Pressure, Arterial Stiffness Indices, Lipoproteins, and Other CVD Risk Factors Completed NCT02210767 Not Applicable
19 EPA Supplementation on Vascular Inflammation, and Gene Expression of PON2 in Patients With Type II Diabetes Mellitus Completed NCT03258840 Not Applicable
20 Clinical Study to Assess High-DHA Fish Oil on Biomarkers of Cardiovascular Disease Risk in Adults on Statin Therapy Completed NCT01690312 Not Applicable
21 Dietary Protein Sources and Atherogenic Dyslipidemia Completed NCT01427855 Not Applicable
22 Effect of a Spice Blend on Cardiovascular Risk Factors and Diet Satisfaction Recruiting NCT03064932 Not Applicable
23 the Change of Cholesterol Efflux Capacity and 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
Thyroid, Heart, Bone

Publications for Huntington Disease-Like 3

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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