Noonan syndrome 1
MONDO:0008104Mondo
Findings
No curated finding names Noonan syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Noonan syndrome caused by mutations in the PTPN11 gene.
Definition from the Mondo Disease Ontology (MONDO:0008104), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
30 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.
- CryptorchidismHPOHP:0000028
- 5 of 8 reported patients
- 27 of 32 reported patients · Male
- Short statureHPOHP:0004322
- 41 of 56 reported patients · Infantile onset
- 43 of 107 reported patients
- Low-set earsHPOHP:0000369
- 96 of 137 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 19 of 28 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 35 of 56 reported patients · Infantile onset
- Low posterior hairlineHPOHP:0002162
- 86 of 138 reported patients
- Webbed neckHPOHP:0000465
- 13 of 32 reported patients
- 10 of 56 reported patients · Congenital onset
- 65 of 107 reported patients
- Bruising susceptibilityHPOHP:0000978
- 32 of 56 reported patients
- PtosisHPOHP:0000508
- 77 of 136 reported patients
- EpicanthusHPOHP:0000286
- 15 of 28 reported patients
- Short neckHPOHP:0000470
- 15 of 29 reported patients
- Pulmonic stenosisHPOHP:0001642
- 92 of 181 reported patients
Show the remaining 18
- HypertelorismHPOHP:0000316
- 68 of 135 reported patients
- Atrial septal defectHPOHP:0001631
- 70 of 181 reported patients · Congenital onset
- Wide intermamillary distanceHPOHP:0006610
- 37 of 107 reported patients
- Broad foreheadHPOHP:0000337
- 34 of 107 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 17 reported patients
- Abnormal bleedingHPOHP:0001892
- 3 of 18 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.
- PTPN11HGNC:9644
- Definitive · Ambry Genetics · Autosomal dominant · 2017
- Definitive · G2P · Autosomal dominant · 2022
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: Noonan syndrome 1
- Also called
- Noonan syndrome type 1NS1