hereditary leiomyomatosis and renal cell cancer
Findings
No curated finding names hereditary leiomyomatosis and renal cell cancer yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.
Definition from the Mondo Disease Ontology (MONDO:0007888), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Uterine leiomyomaHPOHP:0000131
- 22 of 22 reported patients
- Occasional (5% to 29% of cases)
- Abnormality of the musculatureHPOHP:0003011
- Very frequent (80% to 99% of cases)
- Cutaneous leiomyomaHPOHP:0007620
- Very frequent (80% to 99% of cases)
- Multiple cutaneous leiomyomasHPOHP:0007437
- 16 of 21 reported patients
- Very frequent (80% to 99% of cases)
- PruritusHPOHP:0000989
- Frequent (30% to 79% of cases)
- Renal cell carcinomaHPOHP:0005584
- 20 of 46 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FHHGNC:3700
- Definitive · Ambry Genetics · Autosomal dominant · 2019
- Definitive · Ambry Genetics · Autosomal dominant · 2025
- Definitive · ClinGen · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2017
- Definitive · Natera · Autosomal dominant · 2023
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
15 names
Resolves to: hereditary leiomyomatosis and renal cell cancer
- Also called
- familial leiomyomatosisfamilial leiomyomatosis and renal cell cancerfamilial leiomyomatosis cutis et uterifamilial leiomyomatosis with renal carcinomafamilial multiple cutaneous leiomyomashereditary leiomyomatosishereditary leiomyomatosis and renal cell cancer syndromeHereditary Leiomyomatosis and Renal Cell Carcinomahereditary leiomyomatosis with renal carcinomahereditary multiple cutaneous leiomyomasHLRCCleiomyomatosis and renal cell cancerMCULmultiple cutaneous and uterine leiomyomasReed syndrome