MCID: WRT001
MIFTS: 34

Worth's Syndrome malady

Categories: Bone diseases

Aliases & Classifications for Worth's Syndrome

Aliases & Descriptions for Worth's Syndrome:

Name: Worth's Syndrome 12 14
Worth Syndrome 12 29
Benign Form of Worth Hyperostosis Corticalis Generalisata with Torus Platinus 12
Autosomal Dominant Endosteal Hyperostosis 12
Autosomal Dominant Osteosclerosis 12
Worth Disease 69

Classifications:



External Ids:

Disease Ontology 12 DOID:0080037

Summaries for Worth's Syndrome

Disease Ontology : 12 A hyperostosis that has material basis in a mutation in the LRP5 gene which results_in increased bone density and bony structures located in palate.

MalaCards based summary : Worth's Syndrome, also known as worth syndrome, is related to hyperostosis, endosteal and hyperostosis. An important gene associated with Worth's Syndrome is LRP5 (LDL Receptor Related Protein 5), and among its related pathways/superpathways are Glioma and Endometrial cancer. The drugs Abacavir and Efavirenz have been mentioned in the context of this disorder. Affiliated tissues include bone and palate.

Related Diseases for Worth's Syndrome

Graphical network of the top 20 diseases related to Worth's Syndrome:



Diseases related to Worth's Syndrome

Symptoms & Phenotypes for Worth's Syndrome

Drugs & Therapeutics for Worth's Syndrome

Drugs for Worth's Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 393)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Abacavir Approved, Investigational Phase 4,Phase 3,Phase 2 136470-78-5 65140 441300
2
Efavirenz Approved, Investigational Phase 4,Phase 3,Phase 2 154598-52-4 64139
3
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2 134678-17-4 60825
4
Zidovudine Approved Phase 4,Phase 3,Phase 2 30516-87-1 35370
5
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2 155213-67-5 392622
6
Darunavir Approved Phase 4,Phase 3,Phase 2 635728-49-3, 206361-99-1 213039
7
Dipivefrin Approved Phase 4,Phase 3 52365-63-6 3105
8
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
9
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
10
Emtricitabine Approved, Investigational Phase 4,Phase 3,Phase 2 143491-57-0 60877
11
Nevirapine Approved Phase 4,Phase 3 129618-40-2 4463
12
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2 147127-20-6 464205
13
Enfuvirtide Approved, Investigational Phase 4,Phase 3 159519-65-0 16130199
14
Lopinavir Approved Phase 4,Phase 3 192725-17-0 92727
15
Nelfinavir Approved Phase 4 159989-64-7 64143
16
Rifabutin Approved Phase 4,Phase 2,Phase 3 72559-06-9 6323490
17
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 6221 10883523 5280795
18
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
19 Bone Density Conservation Agents Phase 4,Phase 3
20 Ergocalciferols Phase 4
21 Micronutrients Phase 4,Phase 3,Phase 2
22 Trace Elements Phase 4,Phase 3,Phase 2
23 vitamin d Phase 4
24 Vitamins Phase 4,Phase 3,Phase 2
25 Anti-HIV Agents Phase 4,Phase 3,Phase 2
26 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
27 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
28 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1
29 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
30 Cytochrome P-450 CYP2C9 Inhibitors Phase 4,Phase 3,Phase 2
31 Cytochrome P-450 CYP3A Inducers Phase 4,Phase 3,Phase 2
32 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3,Phase 2
33 Dideoxynucleosides Phase 4,Phase 3
34 Lamivudine, zidovudine drug combination Phase 4,Phase 3,Phase 2
35 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
36 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
37 Antiparkinson Agents Phase 4,Phase 3
38 Excitatory Amino Acid Antagonists Phase 4,Phase 3
39 Excitatory Amino Acids Phase 4,Phase 3
40 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
41 Integrase Inhibitors Phase 4,Phase 3
42 Raltegravir Potassium Phase 4,Phase 3
43 Cytochrome P-450 CYP3A Inhibitors Phase 4,Phase 3,Phase 2
44 HIV Protease Inhibitors Phase 4,Phase 3,Phase 1,Phase 2
45
protease inhibitors Phase 4,Phase 3,Phase 1,Phase 2
46 Adjuvants, Immunologic Phase 4,Phase 3,Phase 1,Phase 2
47 Protective Agents Phase 4,Phase 3,Phase 2
48 Viscosupplements Phase 4
49 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
50 Anti-Anxiety Agents Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 221)
id Name Status NCT ID Phase
1 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4
2 Safety and Effectiveness of TRIZIVIR (Abacavir/Lamivudine/Zidovudine) With Efavirenz in HIV-Infected Patients Who Have Never Taken Anti-HIV Drugs Unknown status NCT00011895 Phase 4
3 Intraoperative Floppy Iris Syndrome Completed NCT00711347 Phase 4
4 Influence of Lachrymal Substitute Gels on Tear Film Thickness in Patients With Moderate to Severe Dry Eye Syndrome Completed NCT02585453 Phase 4
5 Gabapentin Enacarbil (GSK1838262) Adult Restless Leg Syndrome Post Marketing Commitment Study Completed NCT01668667 Phase 4
6 The Study of Drotrecogin Alfa (Activated) in a Subpopulation of Adult Patients With Severe Sepsis Completed NCT00045760 Phase 4
7 Nevirapine vs. Atazanavir Boosted With Ritonavir on a Background of Truvada in Human Immunodeficiency Virus (HIV) Infected Naive Patients (NEwArT) Completed NCT00552240 Phase 4
8 Study Of Investigational Regimen Combining FDA Approved HIV Drugs In HIV Subjects Experiencing Early Virologic Failure Completed NCT00038506 Phase 4
9 Safety and Efficacy Study of Switching From Epzicom to Truvada Completed NCT00724711 Phase 4
10 Utilization of HIV Drug Resistance Testing in Treatment Experienced Patients (UTILIZE Study) Completed NCT00615563 Phase 4
11 BOSS Study: A Study of Fuzeon Using the Needle-Free Biojector 2000 in Patients With HIV-1 Infection Completed NCT00337701 Phase 4
12 BLQ Study: A Study of a Protease Inhibitor With Fuzeon (Enfuvirtide) in Treatment-Experienced Patients With HIV-1. Completed NCT00326963 Phase 4
13 Case-Control Viramune (Nevirapine) Toxicogenomics Study Completed NCT00310843 Phase 4
14 Abacavir/Lamivudine Versus Emtricitabine/Tenofovir Both In Combination With Lopinavir/Ritonavir For The Treatment Of HIV Completed NCT00244712 Phase 4
15 QUALITE Study - A Study of Fuzeon (Enfuvirtide) in Treatment-Experienced Patients With Human Immunodeficiency Virus-1 (HIV-1) Infection Completed NCT00232908 Phase 4
16 TBTC Study 23B:Intensive PK of the Nelfinavir Rifabutin Interaction in Patients With HIV-TB Completed NCT00023400 Phase 4
17 Oral Contraceptive Therapy and Sexuality Recruiting NCT02613039 Phase 4
18 Strategic Timing of Antiretroviral Treatment Active, not recruiting NCT00867048 Phase 4
19 A Study of Fuzeon (Enfuvirtide) With an Integrase Inhibitor Plus Optimized Background in Treatment-Experienced HIV-1 Infected Patients Terminated NCT00488059 Phase 4
20 A Clinical Research Study For The Suppression And Treatment Of Genital Herpes Infection In HIV-Infected Persons Terminated NCT00079911 Phase 4
21 Memantine in Preventing Side Effects in Patients Undergoing Whole-Brain Radiation Therapy for Brain Metastases From Solid Tumors Unknown status NCT00566852 Phase 3
22 A Study of GSK1349572 Versus Raltegravir (RAL) With Investigator Selected Background Regimen in Antiretroviral-Experienced, Integrase Inhibitor-Naive Adults Unknown status NCT01231516 Phase 3
23 TMC114-C226: An Early Access Program to Evaluate the Long-term Safety and Tolerability of TMC114 Combined With a Low Dose of Ritonavir (TMC114/r) With Other Antiretrovirals, for HIV-1 Infected Patients Who Have Failed Multiple Antiretroviral Regimens. Approved for marketing NCT00245739 Phase 3
24 Chemotherapy in Treating Children With Down Syndrome and Myeloproliferative Disorder, Acute Myelogenous Leukemia, or Myelodysplastic Syndrome Completed NCT00003593 Phase 3
25 Randomized Prospective Study of Selective Laser Trabeculoplasty (SLT) Versus Argon Trabeculoplasty (ALT) in Patients With Pseudoexfoliation Glaucoma and Ocular Hypertension Completed NCT01126203 Phase 3
26 A Placebo-Controlled, Double-Blind Study to Confirm the Reversal of Hepatorenal Syndrome Type 1 With Terlipressin Completed NCT01143246 Phase 3
27 Efficacy, Safety, and Tolerability of JNJ-27018966 in the Treatment of Patients With Diarrhea-Predominant Irritable Bowel Syndrome (IBS-d) (Protocol JNJ-27018966IBS3002) Completed NCT01553747 Phase 3
28 Study of Asimadoline to Treat Diarrhea-Predominant Irritable Bowel Syndrome (D-IBS) Completed NCT01100684 Phase 3
29 Trial of Linaclotide in Patients With Irritable Bowel Syndrome With Constipation (IBS-C) Completed NCT00938717 Phase 3
30 An Open-label, Long-term Safety Study of Linaclotide in Patients With Chronic Constipation or Irritable Bowel Syndrome With Constipation Completed NCT00730171 Phase 3
31 Cardiovascular Outcomes Study of Alogliptin in Patients With Type 2 Diabetes and Acute Coronary Syndrome Completed NCT00968708 Phase 3
32 Irritable Bowel Syndrome With Diarrhea (IBS-D) Rifaximin Re-Treatment Study Completed NCT01543178 Phase 3
33 A Study of RO4607381 in Stable Coronary Heart Disease Patients With Recent Acute Coronary Syndrome Completed NCT00658515 Phase 3
34 Rifaximin 3 Times/Day (TID) for Non-Constipation Irritable Bowel Syndrome (IBS) Completed NCT00731679 Phase 3
35 TELESTAR (Telotristat Etiprate for Somatostatin Analogue Not Adequately Controlled Carcinoid Syndrome) Completed NCT01677910 Phase 3
36 Clobazam in Patients With Lennox-Gastaut Syndrome Completed NCT00518713 Phase 3
37 The Stabilization Of pLaques usIng Darapladib-Thrombolysis In Myocardial Infarction 52 Trial Completed NCT01000727 Phase 3
38 Study Of Women With Severe Diarrhea-Predominant Irritable Bowel Syndrome Having Failed Conventional Therapy Completed NCT00067561 Phase 3
39 Combination Chemotherapy in Treating Young Patients With Down Syndrome and Acute Myeloid Leukemia or Myelodysplastic Syndromes Completed NCT00369317 Phase 3
40 Everolimus and Octreotide in Patients With Advanced Carcinoid Tumor Completed NCT00412061 Phase 3
41 Cyclophosphamide and Prednisone With or Without Immunoglobulin in Treating Abnormal Muscle Movement in Children With Neuroblastoma Completed NCT00033293 Phase 3
42 Combination Chemotherapy With or Without Gemtuzumab in Treating Young Patients With Newly Diagnosed Acute Myeloid Leukemia Completed NCT00372593 Phase 3
43 Effect of Otamixaban Versus Unfractionated Heparin + Eptifibatide in Patients With Unstable Angina/Non ST Elevation Myocardial Infarction Undergoing Early Invasive Strategy Completed NCT01076764 Phase 3
44 Evaluation of Purified Poloxamer 188 in Vaso-Occlusive Crisis of Sickle Cell Disease (EPIC) Completed NCT01737814 Phase 3
45 Study to Evaluate Switching From Regimens Consisting of a Nonnucleoside Reverse Transcriptase Inhibitor Plus Emtricitabine and Tenofovir DF to the Elvitegravir/Cobicistat/Emtricitabine/Tenofovir DF Single-Tablet Regimen in Virologically Suppressed, HIV-1 Completed NCT01495702 Phase 3
46 Study to Evaluate Switching From Regimens Consisting of a Ritonavir-boosted Protease Inhibitor Plus Emtricitabine/Tenofovir Fixed-Dose Combination to the Elvitegravir/Cobicistat/Emtricitabine/Tenofovir DF Single-Tablet Regimen in Virologically Suppressed, Completed NCT01475838 Phase 3
47 Safety and Efficacy of Cobicistat-boosted Darunavir in HIV Infected Adults Completed NCT01440569 Phase 3
48 Cobicistat-containing Highly Active Antiretroviral Regimens in HIV-1 Infected Patients With Mild to Moderate Renal Impairment Completed NCT01363011 Phase 3
49 Monoclonal Antibody Ch14.18, Sargramostim, Aldesleukin, and Isotretinoin After Autologous Stem Cell Transplant in Treating Patients With Neuroblastoma Completed NCT01041638 Phase 3
50 Single vs Double Umbilical Cord Blood Transplants in Children With High Risk Leukemia and Myelodysplasia (BMT CTN 0501) Completed NCT00412360 Phase 3

Search NIH Clinical Center for Worth's Syndrome

Genetic Tests for Worth's Syndrome

Genetic tests related to Worth's Syndrome:

id Genetic test Affiliating Genes
1 Worth Disease 29

Anatomical Context for Worth's Syndrome

MalaCards organs/tissues related to Worth's Syndrome:

39
Bone

The Foundational Model of Anatomy Ontology organs/tissues related to Worth's Syndrome:

18
Palate

Publications for Worth's Syndrome

Variations for Worth's Syndrome

ClinVar genetic disease variations for Worth's Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LRP5 NM_002335.3(LRP5): c.724G> A (p.Ala242Thr) single nucleotide variant Pathogenic rs121908670 GRCh37 Chromosome 11, 68131252: 68131252
2 LRP5 NM_002335.3(LRP5): c.640G> A (p.Ala214Thr) single nucleotide variant Pathogenic rs121908671 GRCh37 Chromosome 11, 68125269: 68125269
3 LRP5 NM_002335.3(LRP5): c.641C> T (p.Ala214Val) single nucleotide variant Pathogenic rs121908672 GRCh37 Chromosome 11, 68125270: 68125270

Expression for Worth's Syndrome

Search GEO for disease gene expression data for Worth's Syndrome.

Pathways for Worth's Syndrome

Pathways related to Worth's Syndrome according to GeneCards Suite gene sharing:

(show all 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.19 EGF ERBB2 LRP5
2
Show member pathways
11.92 EGF ERBB2
3
Show member pathways
11.88 EGF ERBB2
4
Show member pathways
11.86 EGF ERBB2
5
Show member pathways
11.84 EGF ERBB2
6 11.74 EGF LRP5
7 11.73 EGF ERBB2
8
Show member pathways
11.7 EGF LRP5
9
Show member pathways
11.66 EGF ERBB2
10
Show member pathways
11.62 EGF ERBB2
11 11.59 EGF ERBB2
12
Show member pathways
11.55 EGF ERBB2
13
Show member pathways
11.49 EGF ERBB2
14
Show member pathways
11.36 EGF ERBB2
15 11.25 EGF ERBB2
16 10.82 EGF ERBB2
17 10.11 EGF ERBB2

GO Terms for Worth's Syndrome

Cellular components related to Worth's Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.8 EGF ERBB2 LRP5

Biological processes related to Worth's Syndrome according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.51 EGF ERBB2
2 peptidyl-tyrosine phosphorylation GO:0018108 9.49 EGF ERBB2
3 phosphatidylinositol-mediated signaling GO:0048015 9.48 EGF ERBB2
4 phosphatidylinositol phosphorylation GO:0046854 9.46 EGF ERBB2
5 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.43 EGF ERBB2
6 canonical Wnt signaling pathway GO:0060070 9.4 EGF LRP5
7 positive regulation of MAP kinase activity GO:0043406 9.37 EGF ERBB2
8 ERBB2 signaling pathway GO:0038128 9.32 EGF ERBB2
9 regulation of cell motility GO:2000145 9.26 EGF ERBB2
10 positive regulation of mitotic nuclear division GO:0045840 9.16 EGF LRP5
11 negative regulation of ERBB signaling pathway GO:1901185 8.96 EGF ERBB2
12 Wnt signaling pathway involved in dorsal/ventral axis specification GO:0044332 8.62 EGF LRP5

Molecular functions related to Worth's Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.32 EGF ERBB2
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.26 EGF ERBB2
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.16 EGF ERBB2
4 Wnt-protein binding GO:0017147 8.96 EGF LRP5
5 Wnt-activated receptor activity GO:0042813 8.62 EGF LRP5

Sources for Worth's Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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