cardiofaciocutaneous syndrome 3
Findings
No curated finding names cardiofaciocutaneous syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014113), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
22 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.
- Curly hairHPOHP:0002212
- 3 of 3 reported patients
- Heat intoleranceHPOHP:0002046
- 3 of 3 reported patients
- HyperhidrosisHPOHP:0000975
- 3 of 3 reported patients
- HyperkeratosisHPOHP:0000962
- 3 of 3 reported patients
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
- Pectus excavatumHPOHP:0000767
- 3 of 3 reported patients
- ScoliosisHPOHP:0002650
Show the remaining 10
- Hypertrophic cardiomyopathyHPOHP:0001639
- Intellectual disabilityHPOHP:0001249
- Keratosis pilarisHPOHP:0032152
- NystagmusHPOHP:0000639
- Pulmonic stenosisHPOHP:0001642
- Short neckHPOHP:0000470
- Short statureHPOHP:0004322
- Ventricular septal defectHPOHP:0001629
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.
- MAP2K1HGNC:6840
- 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
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: cardiofaciocutaneous syndrome 3
- Also called
- cardiofaciocutaneous syndrome caused by mutation in MAP2K1cardiofaciocutaneous syndrome type 3MAP2K1 cardiofaciocutaneous syndrome