Disease · MONDO_0007888

hereditary leiomyomatosis and renal cell cancer

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. hereditary leiomyomatosis and renal cell cancer. Diseases, record MONDO_0007888. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0007888

On this page

Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: hereditary leiomyomatosis and renal cell cancer; Open Targets
Open Targets ID: MONDO_0007888; Open Targets
Other names: HLRCC, Hereditary Leiomyomatosis and Renal Cell Carcinoma, MCUL, Reed syndrome, familial leiomyomatosis, familial leiomyomatosis and renal cell cancer, familial leiomyomatosis cutis et uteri, familial leiomyomatosis with renal carcinoma, familial multiple cutaneous leiomyomas, hereditary leiomyomatosis, hereditary leiomyomatosis and renal cell cancer syndrome, hereditary leiomyomatosis with renal carcinoma, hereditary multiple cutaneous leiomyomas, leiomyomatosis and renal cell cancer, multiple cutaneous and uterine leiomyomas; Open Targets
MeSH: C535516; MeSH
NCI Thesaurus: C51302; NCI Thesaurus
Orphanet: ORPHA:523; Orphanet
Highest stage of its drugs: Phase 2, for 2 of its 6 drugs, from ClinicalTrials.gov; Open Targets

Drugs6

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
PAMIPARIB	CHEMBL4112930	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
TEMOZOLOMIDE	CHEMBL810	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
METFORMIN	CHEMBL1431	Small molecule	Phase 1/2	ClinicalTrials.gov	1	1	1	Drugs and targets
VANDETANIB	CHEMBL24828	Small molecule	Phase 1/2	ClinicalTrials.gov	1	1	1	Drugs and targets
EVEROLIMUS	CHEMBL1908360	Small molecule	Phase 1	ClinicalTrials.gov	1	1	1	Drugs and targets
SPARTALIZUMAB	CHEMBL4297831	Antibody	Phase 1	ClinicalTrials.gov	1	1	1	Drugs and targets

Targets79

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
COXFA4	Mitochondrial complex I (NADH dehydrogenase)	1	Mitochondrial complex I (NADH dehydrogenase) inhibitor	Phase 1/2	https://conductscience.org/library/genes/4697	Drugs and targets
COXFA4L2	Mitochondrial complex I (NADH dehydrogenase)	1	Mitochondrial complex I (NADH dehydrogenase) inhibitor	Phase 1/2	https://conductscience.org/library/genes/56901	Drugs and targets
EGFR	Epidermal growth factor receptor	1	Epidermal growth factor receptor inhibitor	Phase 1/2	https://conductscience.org/library/genes/1956	Drugs and targets
EPHA1	Ephrin receptor	1	Ephrin receptor inhibitor	Phase 1/2	https://conductscience.org/library/genes/2041	Drugs and targets
EPHA10	Ephrin receptor	1	Ephrin receptor inhibitor	Phase 1/2	https://conductscience.org/library/genes/284656	Drugs and targets
EPHA2	Ephrin receptor	1	Ephrin receptor inhibitor	Phase 1/2	https://conductscience.org/library/genes/1969	Drugs and targets
EPHA3	Ephrin receptor	1	Ephrin receptor inhibitor	Phase 1/2	https://conductscience.org/library/genes/2042	Drugs and targets
EPHA4	Ephrin receptor	1	Ephrin receptor inhibitor	Phase 1/2	https://conductscience.org/library/genes/2043	Drugs and targets
EPHA5	Ephrin receptor	1	Ephrin receptor inhibitor	Phase 1/2	https://conductscience.org/library/genes/2044	Drugs and targets
EPHA6	Ephrin receptor	1	Ephrin receptor inhibitor	Phase 1/2	https://conductscience.org/library/genes/285220	Drugs and targets

1 to 10 of 79

See all 79 targets

Trials3

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT02495103	Vandetanib in Combination With Metformin in People With HLRCC or SDH-Associated Kidney Cancer or Sporadic Papillary Renal Cell Carcinoma	Phase 1/2	7	2021-01-26	Renal Cell Carcinoma, Hereditary Leiomyomatosis, Renal Cell Cancer	METFORMIN, VANDETANIB	Its record names the disease	ClinicalTrials.gov
NCT04895748	DFF332 as a Single Agent and in Combination With Everolimus & Immuno-Oncology Agents in Advanced/Relapsed Renal Cancer & Other Malignancies	Phase 1	40		Carcinoma, Renal Cell	EVEROLIMUS, SPARTALIZUMAB	Its record names the disease	ClinicalTrials.gov
NCT04603365	Pamiparib and Temozolomide for the Treatment of Hereditary Leiomyomatosis and Renal Cell Cancer	Phase 2	0		Clear Cell Papillary Renal Neoplasm, Collecting Duct Carcinoma, Hereditary Leiomyomatosis and Renal Cell Carcinoma, Hereditary Papillary Renal Cell Carcinoma, Metastatic Renal Cell Carcinoma, Metastatic Unclassified Renal Cell Carcinoma, Papillary Renal Cell Carcinoma, Stage III Renal Cell Cancer American Joint Committee on Cancer (AJCC) v8, Stage IV Renal Cell Cancer AJCC v8, Tubulocystic Renal Cell Carcinoma, Unresectable Renal Cell Carcinoma	PAMIPARIB, TEMOZOLOMIDE	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials4

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial	Source
Phase I, Dose Level 1 - Metformin 250mg Daily/Vandetanib 300mg Daily vs Phase I, Dose Level 2 - Metformin 250mg Twice Daily/Vandetanib 300mg Daily: Phase 1 Component - Number of Participants With a Dose Limiting Toxicity (DLT)	0 of 3	0 of 4	7	NCT02495103	Trial comparisons
Phase I, Dose Level 1 - Metformin 250mg Daily/Vandetanib 300mg Daily vs Phase I, Dose Level 2 - Metformin 250mg Twice Daily/Vandetanib 300mg Daily: Phase 1 Component - Number of Participants With Serious and Non-serious Adverse Events Assessed by the Common Terminology Criteria for Adverse Events (CTCAE v4.0).	3 of 3	4 of 4	7	NCT02495103	Trial comparisons
Phase I, Dose Level 1 - Metformin 250mg Daily/Vandetanib 300mg Daily vs Phase I, Dose Level 2 - Metformin 250mg Twice Daily/Vandetanib 300mg Daily: deaths from any cause	0 of 3	0 of 4	7	NCT02495103	Trial comparisons
Phase I, Dose Level 1 - Metformin 250mg Daily/Vandetanib 300mg Daily vs Phase I, Dose Level 2 - Metformin 250mg Twice Daily/Vandetanib 300mg Daily: serious adverse events	1 of 3	2 of 4	7	NCT02495103	Trial comparisons

Papers from its trials0

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

None in this release.

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0007888

GET https://conductscience.org/api/diseases/v1/MONDO_0007888/targets?page=2

API reference For AI assistants