Noonan syndrome with multiple lentigines
Findings
No curated finding names Noonan syndrome with multiple lentigines yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.
Definition from the Mondo Disease Ontology (MONDO:0007893), read 2026-09-29. CC BY 4.0.
Features
50 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.
- Abnormal pulmonary valve morphologyHPOHP:0001641
- Very frequent (80% to 99% of cases)
- Abnormality of the genital systemHPOHP:0000078
- Very frequent (80% to 99% of cases)
- Abnormality of the pulmonary arteryHPOHP:0004414
- Very frequent (80% to 99% of cases)
- ArrhythmiaHPOHP:0011675
- Very frequent (80% to 99% of cases)
- Bundle branch blockHPOHP:0011710
- Very frequent (80% to 99% of cases)
- FrecklingHPOHP:0001480
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- Hyperextensible skinHPOHP:0000974
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Hypertrophic cardiomyopathyHPOHP:0001639
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Melanocytic nevusHPOHP:0000995
- Very frequent (80% to 99% of cases)
Show the remaining 38
- Multiple lentiginesHPOHP:0001003
- Very frequent (80% to 99% of cases)
- Pulmonic stenosisHPOHP:0001642
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- Severe sensorineural hearing impairmentHPOHP:0008625
- Very frequent (80% to 99% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Frequent (30% to 79% of cases)
- Abnormal mitral valve morphologyHPOHP:0001633
Genes
5 genes
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 · ClinGen · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- MAP2K1HGNC:6840
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Limited · ClinGen · Autosomal dominant · 2018
- BRAFHGNC:1097
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · ClinGen · Autosomal dominant · 2018
- RAF1HGNC:9829
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · ClinGen · Autosomal dominant · 2018
Where it sits
Other names
5 names
Resolves to: Noonan syndrome with multiple lentigines
- Also called
- Cardiomyopathic lentiginosisfamilial multiple lentigines syndromegeneralised lentiginosislentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafnessLEOPARD syndrome