Hereditary leiomyomatosis and renal cell cancer

Summary

Hereditary leiomyomatosis and renal cell cancer (MONDO:0007888) is a cancer caused by FH (GenCC Definitive), with 3 cohort genes (2 CIViC-evidence somatic drivers; 566 ClinVar predisposition records) and 8 clinical trials. Top therapeutic interventions include botulinum toxin type a, sodium fluoride f 18, and vandetanib.

At a glance

• Classification: Cancer
• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Causal gene: FH (GenCC Definitive)
• Cohort genes: 3
• ClinVar variants: 566
• Phenotypes (HPO): 11
• Clinical trials: 8

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		200	Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

11 HPO clinical features (Orphanet curated; top 11 by frequency):

HPO ID	Term	Frequency
HP:0003011	Abnormality of the musculature	Very frequent (80-99%)
HP:0007437	Multiple cutaneous leiomyomas	Very frequent (80-99%)
HP:0007620	Cutaneous leiomyoma	Very frequent (80-99%)
HP:0000989	Pruritus	Frequent (30-79%)
HP:0000131	Uterine leiomyoma	Occasional (5-29%)
HP:0000518	Cataract	Occasional (5-29%)
HP:0002891	Uterine leiomyosarcoma	Occasional (5-29%)
HP:0006732	Papillary renal cell carcinoma type 2	Occasional (5-29%)
HP:0100580	Barrett esophagus	Occasional (5-29%)
HP:0100650	Vaginal neoplasm	Occasional (5-29%)
HP:0100751	Esophageal neoplasm	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	hereditary leiomyomatosis and renal cell cancer
Mondo ID	MONDO:0007888
MeSH	C535516
OMIM	150800
Orphanet	523
ICD-11	754002573
NCIT	C51302
UMLS	C1708350
MedGen	353771
GARD	0010096
NORD	1231
Is cancer (heuristic)	yes

Also known as: 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 · hereditary leiomyomatosis and renal cell cancer syndrome · Hereditary Leiomyomatosis and Renal Cell Carcinoma · hereditary leiomyomatosis and renal cell carcinoma · hereditary leiomyomatosis with renal carcinoma · hereditary multiple cutaneous leiomyomas · HLRCC · leiomyomatosis and renal cell cancer · leiomyomatosis familial · LRCC · MCUL · multiple cutaneous and uterine leiomyomas · multiple cutaneous and uterine leiomyomata · multiple cutaneous leiomyomata (+2 more)

Data availability: 566 ClinVar variants · 8 GenCC gene-disease records · 6 cell lines.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary neoplastic syndrome › hereditary leiomyomatosis and renal cell cancer

Related subtypes (116): mosaic variegated aneuploidy syndrome, tuberous sclerosis, hereditary breast ovarian cancer syndrome, hereditary multiple osteochondromas, nevoid basal cell carcinoma syndrome, leukemia, chronic lymphocytic, susceptibility to, 2, blue rubber bleb nevus, cherubism, Beckwith-Wiedemann syndrome, multiple self-healing squamous epithelioma, erythroleukemia, familial, susceptibility to, goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, hyperparathyroidism 2 with jaw tumors, Kaposi sarcoma, susceptibility to, susceptibility to uveal melanoma, melanoma and neural system tumor syndrome, nasopharyngeal carcinoma, susceptibility to, 2, WAGR syndrome, neuroblastoma, susceptibility to, 1, Rothmund-Thomson syndrome, mismatch repair cancer syndrome 1, Wiskott-Aldrich syndrome, N syndrome, hereditary thrombocytopenia and hematologic cancer predisposition syndrome, prostate cancer/brain cancer susceptibility, Brooke-Spiegler syndrome, pancreatic cancer, susceptibility to, 1, Carney-Stratakis syndrome, nasopharyngeal carcinoma, susceptibility to, 1, ovarian cancer, susceptibility to, 1, colorectal cancer, susceptibility to, 1, lung cancer susceptibility 1, leukemia, chronic lymphocytic, susceptibility to, 1, Kostmann syndrome, colorectal cancer, susceptibility to, 2, colorectal cancer, susceptibility to, 3, colorectal cancer, susceptibility to, 5, colorectal cancer, susceptibility to, 6, colorectal cancer, susceptibility to, 7, leukemia, chronic lymphocytic, susceptibility to, 3, leukemia, chronic lymphocytic, susceptibility to, 4, leukemia, chronic lymphocytic, susceptibility to, 5, lung cancer susceptibility 3, colorectal cancer, susceptibility to, 8, colorectal cancer, susceptibility to, 9, colorectal cancer, susceptibility to, 10, colorectal cancer, susceptibility to, 11, lung cancer susceptibility 4, neuroblastoma, susceptibility to, 3, neuroblastoma, susceptibility to, 4, neuroblastoma, susceptibility to, 5, neuroblastoma, susceptibility to, 6, leukemia, acute lymphocytic, susceptibility to, 1, leukemia, acute lymphocytic, susceptibility to, 2, lung cancer susceptibility 5, BAP1-related tumor predisposition syndrome, familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Maffucci syndrome, basal cell carcinoma, susceptibility to, 7, colorectal cancer, susceptibility to, 12, leukemia, acute lymphoblastic, susceptibility to, 3, cholangiocarcinoma, susceptibility to, progeroid features-hepatocellular carcinoma predisposition syndrome, neuroblastoma, susceptibility to, 7, DDX41-related hematologic malignancy predisposition syndrome, nasopharyngeal carcinoma, susceptibility to, 3, familial isolated hyperparathyroidism, intestinal polyposis syndrome, dyskeratosis congenita, familial rhabdoid tumor, multiple endocrine neoplasia, hereditary pheochromocytoma-paraganglioma, PTEN hamartoma tumor syndrome, familial multiple fibrofolliculoma, hereditary retinoblastoma, familial atypical multiple mole melanoma syndrome, hereditary nonpolyposis colon cancer, Li-Fraumeni syndrome, Cobb syndrome, neurofibromatosis, susceptibility to familial cutaneous melanoma, pancreatic cancer, susceptibility to, 5, leukemia, acute myeloid, susceptibility to, diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, glioma susceptibility, hemangioma, capillary infantile, susceptibility to, CDH1-related diffuse gastric and lobular breast cancer syndrome, NTHL1-deficiency tumor predisposition syndrome, SAMD9-related spectrum and myeloid neoplasm risk, neuroblastoma, susceptibility to, 2, BARD1-related cancer predisposition, BRCA1-related cancer predisposition, BRCA2-related cancer predisposition, ATM-related cancer predisposition, CHEK2-related cancer predisposition, PALB2-related cancer predisposition, RAD51C-related cancer predisposition, RAD51D-related cancer predisposition, Li-fraumeni-like syndrome, breast cancer, familial, susceptibility to, 1, breast cancer, familial, susceptibility to, 2, breast cancer, familial, susceptibility to, 3, colorectal cancer, susceptibility to, 4, colorectal cancer, susceptibility to, on chromosome 15, ovarian cancer, familial, susceptibility to, 1, ovarian cancer, familial, susceptibility to, 2, ovarian cancer, familial, susceptibility to, 3, inherited hematologic cancer-predisposing syndrome, mosaic neurofibromatosis/schwannomatosis, tumor predisposition syndrome 2, prostate cancer, hereditary, X-linked 3, follicular lymphoma, susceptibility to, GPR161-related medulloblastoma predisposition, SAMD9L-related spectrum and myeloid neoplasm risk, HAVCR2-related cancer predisposition, EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

566 retrieved; paginated sample, class counts are floors:

186 benign/likely benign, 108 conflicting classifications of pathogenicity, 65 pathogenic/likely pathogenic, 62 pathogenic, 50 likely benign, 48 uncertain significance, 30 benign, 17 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1066054	NM_000143.4(FH):c.563A>T (p.Asn188Ile)	FH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1384577	NM_000143.4(FH):c.822dup (p.Gly275fs)	FH	Pathogenic	criteria provided, multiple submitters, no conflicts
1387156	NM_000143.4(FH):c.1478del (p.Thr493fs)	FH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
141355	NM_000143.4(FH):c.697C>T (p.Arg233Cys)	FH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
142654	NM_000143.4(FH):c.557G>A (p.Ser186Asn)	FH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1455272	NM_000143.4(FH):c.1247del (p.Val416fs)	FH	Pathogenic	criteria provided, multiple submitters, no conflicts
16232	NM_000143.4(FH):c.301C>T (p.Arg101Ter)	FH	Pathogenic	criteria provided, multiple submitters, no conflicts
16234	NM_000143.4(FH):c.671_672del (p.Glu224fs)	FH	Pathogenic	criteria provided, multiple submitters, no conflicts
16235	NM_000143.4(FH):c.1027C>T (p.Arg343Ter)	FH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
16236	NM_000143.4(FH):c.698G>A (p.Arg233His)	FH	Pathogenic	criteria provided, multiple submitters, no conflicts
16237	NM_000143.4(FH):c.698G>T (p.Arg233Leu)	FH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
167066	NM_000143.4(FH):c.1067T>A (p.Leu356Ter)	FH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1691284	NM_000143.4(FH):c.936T>G (p.Phe312Leu)	FH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1757309	NM_000143.4(FH):c.712G>C (p.Asp238His)	FH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1765675	NM_000143.4(FH):c.907_910del (p.Pro304fs)	FH	Pathogenic	criteria provided, multiple submitters, no conflicts
184555	NM_000143.4(FH):c.700A>G (p.Thr234Ala)	FH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
185496	NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del)	FH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
186284	NM_000143.4(FH):c.404A>G (p.His135Arg)	FH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
198391	NM_000143.4(FH):c.912_918del (p.Phe305fs)	FH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
208374	NM_000143.4(FH):c.905-1G>A	FH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
208375	NM_000143.4(FH):c.1210G>T (p.Glu404Ter)	FH	Pathogenic	criteria provided, multiple submitters, no conflicts
214373	NM_000143.4(FH):c.584T>C (p.Met195Thr)	FH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
214374	NM_000143.4(FH):c.1093A>G (p.Ser365Gly)	FH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
214389	NM_000143.4(FH):c.139C>T (p.Gln47Ter)	FH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
214399	NM_000143.4(FH):c.1083_1086del (p.Glu362fs)	FH	Pathogenic	criteria provided, multiple submitters, no conflicts
214405	NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs)	FH	Pathogenic	criteria provided, multiple submitters, no conflicts
214406	NM_000143.4(FH):c.1400dup (p.Ala468fs)	FH	Pathogenic	criteria provided, multiple submitters, no conflicts
214408	NM_000143.4(FH):c.395_399del (p.Lys131_Leu132insTer)	FH	Pathogenic	criteria provided, multiple submitters, no conflicts
214412	NM_000143.4(FH):c.904+1G>A	FH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
214413	NM_000143.4(FH):c.934T>C (p.Phe312Leu)	FH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 16 · Orphanet: 12 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Somatic driver evidence (intOGen + CIViC, cohort fanout)

Gene	intOGen role	Cancer types	CIViC
FH			CIViC #1892
PTCH1	LoF	ANGS,BCC,CHOL,ESCA,MBL,NPC,OS,PAST,PLMESO,SKIN,WDTC	CIViC #4645

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
FH	Definitive	Autosomal dominant	hereditary leiomyomatosis and renal cell cancer	16

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
FH	Orphanet:24	Fumaric aciduria
FH	Orphanet:29072	Hereditary pheochromocytoma-paraganglioma
FH	Orphanet:523	Hereditary leiomyomatosis and renal cell cancer
PTCH1	Orphanet:220386	Semilobar holoprosencephaly
PTCH1	Orphanet:2353	Schilbach-Rott syndrome
PTCH1	Orphanet:280195	Septopreoptic holoprosencephaly
PTCH1	Orphanet:280200	Microform holoprosencephaly
PTCH1	Orphanet:377	Gorlin syndrome
PTCH1	Orphanet:77301	Monosomy 9q22.3 syndrome
PTCH1	Orphanet:93924	Lobar holoprosencephaly
PTCH1	Orphanet:93925	Alobar holoprosencephaly
PTCH1	Orphanet:93926	Midline interhemispheric variant of holoprosencephaly

Cohort genes → proteins

3 cohort genes, 3 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	3

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
FH	HGNC:3700	ENSG00000091483	P07954	Fumarate hydratase, mitochondrial	gencc,clinvar
PLD5	HGNC:26879	ENSG00000180287	Q8N7P1	Inactive phospholipase D5	clinvar
PTCH1	HGNC:9585	ENSG00000185920	Q13635	Protein patched homolog 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
FH	Fumarate hydratase, mitochondrial	Catalyzes the reversible stereospecific interconversion of fumarate to L-malate.
PTCH1	Protein patched homolog 1	Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH).

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 2 · Druggable fraction: 0.33

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Enzyme (other)	1	4.0×	0.460
Other/Unknown	2	1.2×	0.587

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
FH	Enzyme (other)	yes	4.2.1.2	Fumarate_lyase_fam, Fum_hydII, L-Aspartase-like
PLD5	Other/Unknown	no		PLipase_D/transphosphatidylase, PLDc_3, Diverse_PLD-related
PTCH1	Other/Unknown	no		SSD, TM_rcpt_patched, HMGCR/SNAP/NPC1-like_SSD

Expression context

Cohort genes with no expression data: 0.

3 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	3
unknown	0

Top tissues across cohort

Tissue	Cohort genes
body of tongue	1
cardiac ventricle	1
heart right ventricle	1
descending thoracic aorta	1
pigmented layer of retina	1
thoracic aorta	1
dorsal root ganglion	1
tibia	1
trigeminal ganglion	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
FH	292	ubiquitous	marker	heart right ventricle, body of tongue, cardiac ventricle
PLD5	167	broad	marker	pigmented layer of retina, descending thoracic aorta, thoracic aorta
PTCH1	275	ubiquitous	marker	tibia, dorsal root ganglion, trigeminal ganglion

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
FH	3,709
PTCH1	3,368
PLD5	640

Structural data

PDB: 2 · AlphaFold-only: 1 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PTCH1	Q13635	16
FH	P07954	7

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
PLD5	Q8N7P1	83.26

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 8. Enrichment computed across 3 evidence-associated genes (2 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
GLI proteins bind promoters of Hh responsive genes to promote transcription	1	815.7×	0.006	PTCH1
Ligand-receptor interactions	1	713.8×	0.006	PTCH1
Activation of SMO	1	317.2×	0.008	PTCH1
Citric acid cycle (TCA cycle)	1	211.5×	0.009	FH
Class B/2 (Secretin family receptors)	1	95.2×	0.014	PTCH1
Hedgehog ‘off’ state	1	89.2×	0.014	PTCH1
Hedgehog ‘on’ state	1	79.3×	0.014	PTCH1
Mitochondrial protein degradation	1	57.1×	0.017	FH

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
fumarate metabolic process	1	8426.0×	0.003	FH
obsolete regulation of arginine metabolic process	1	4213.0×	0.003	FH
response to chlorate	1	4213.0×	0.003	PTCH1
neural plate axis specification	1	4213.0×	0.003	PTCH1
cell proliferation involved in metanephros development	1	4213.0×	0.003	PTCH1
cell differentiation involved in kidney development	1	2808.7×	0.004	PTCH1
epidermal cell fate specification	1	1685.2×	0.005	PTCH1
neural tube patterning	1	1404.3×	0.005	PTCH1
hindlimb morphogenesis	1	1404.3×	0.005	PTCH1
arginine metabolic process	1	1203.7×	0.005	FH
negative regulation of cell division	1	1203.7×	0.005	PTCH1
mammary gland duct morphogenesis	1	1203.7×	0.005	PTCH1
positive regulation of epidermal cell differentiation	1	1053.2×	0.005	PTCH1
malate metabolic process	1	936.2×	0.005	FH
metanephric collecting duct development	1	842.6×	0.005	PTCH1
response to alkaloid	1	766.0×	0.005	PTCH1
prostate gland development	1	702.2×	0.005	PTCH1
urea cycle	1	648.1×	0.005	FH
mammary gland epithelial cell differentiation	1	601.9×	0.005	PTCH1
negative regulation of multicellular organism growth	1	561.7×	0.005	PTCH1
somite development	1	561.7×	0.005	PTCH1
limb morphogenesis	1	526.6×	0.005	PTCH1
smooth muscle tissue development	1	526.6×	0.005	PTCH1
commissural neuron axon guidance	1	495.6×	0.005	PTCH1
positive regulation of double-strand break repair via nonhomologous end joining	1	495.6×	0.005	FH
cell fate determination	1	468.1×	0.005	PTCH1
spinal cord motor neuron differentiation	1	468.1×	0.005	PTCH1
cellular response to cholesterol	1	421.3×	0.005	PTCH1
negative regulation of stem cell proliferation	1	421.3×	0.005	PTCH1
dorsal/ventral neural tube patterning	1	401.2×	0.005	PTCH1

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 3

Druggability breadth: 2 of 3 evidence-associated genes (67%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
FH	0	0
PLD5	0	0
PTCH1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
PTCH1	4	Binding:4
FH	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
FH	4.2.1.2	fumarate hydratase

Pharmacogenomics

Cohort genes with a PharmGKB record: 3; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Drug repurposing candidates

0 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	FH
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	2	PLD5, PTCH1

Undrugged target profiles

3 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
FH	1	—
PLD5	0	—
PTCH1	4	—

Clinical trials & evidence

Clinical trials

Clinical trials: 8.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	4
Not specified	3
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04981509	PHASE2	RECRUITING	Testing of Bevacizumab, Erlotinib, and Atezolizumab in Combination for Advanced-Stage Kidney Cancer
NCT00971620	PHASE2	COMPLETED	Randomized Pilot Study for the Treatment of Cutaneous Leiomyomas With Botulinum Toxin
NCT01130519	PHASE2	COMPLETED	A Phase II Study of Bevacizumab and Erlotinib in Subjects With Advanced Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) or Sporadic Papillary Renal Cell Cancer
NCT02495103	PHASE1/PHASE2	TERMINATED	Vandetanib in Combination With Metformin in People With HLRCC or SDH-Associated Kidney Cancer or Sporadic Papillary Renal Cell Carcinoma
NCT04603365	PHASE2	WITHDRAWN	Pamiparib and Temozolomide for the Treatment of Hereditary Leiomyomatosis and Renal Cell Cancer
NCT03749980	Not specified	RECRUITING	MyVHL: Patient Natural History Study
NCT04623502	Not specified	RECRUITING	An Investigation of Kidney and Urothelial Tumor Metabolism in Patients Undergoing Surgical Resection and/or Biopsy
NCT05534854	Not specified	UNKNOWN	Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BOTULINUM TOXIN TYPE A	4	1
SODIUM FLUORIDE F 18	4	1
VANDETANIB	4	1
PAMIPARIB	3	1
CHEMBL3919533	0	1