LEOPARD syndrome 1
MONDO:0100082Mondo
Findings
No curated finding names LEOPARD syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
14 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.
- Cafe-au-lait spotHPOHP:0000957
- 9 of 9 reported patients
- HypertelorismHPOHP:0000316
- 9 of 9 reported patients
- Multiple lentiginesHPOHP:0001003
- 9 of 9 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 9 of 9 reported patients
- PtosisHPOHP:0000508
- 8 of 9 reported patients
- MacrocephalyHPOHP:0000256
- 7 of 9 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 3 of 9 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 2 of 9 reported patients
- Short statureHPOHP:0004322
- 2 of 9 reported patients
- Complete atrioventricular canal defectHPOHP:0001674
- 1 of 9 reported patients
- Mitral valve prolapseHPOHP:0001634
- 1 of 9 reported patients
- Subvalvular aortic stenosisHPOHP:0001682
- 1 of 9 reported patients
Show the remaining 2
- Pectus carinatumHPOHP:0000768
- Pectus excavatumHPOHP:0000767
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.
- PTPN11HGNC:9644
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: LEOPARD syndrome 1
- Also called
- lentiginosis, cardiomyopathicLEOPARD syndrome type 1LPRD1multiple lentigines syndrome