Proteus-like syndrome
Findings
No curated finding names Proteus-like syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease.
Definition from the Mondo Disease Ontology (MONDO:0017571), read 2026-09-29. CC BY 4.0.
Features
31 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 pupil morphologyHPOHP:0000615
- Very frequent (80% to 99% of cases)
- Epidermal nevusHPOHP:0010816
- Very frequent (80% to 99% of cases)
- Genu recurvatumHPOHP:0002816
- Very frequent (80% to 99% of cases)
- HemangiomaHPOHP:0001028
- Very frequent (80% to 99% of cases)
- HyperostosisHPOHP:0100774
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Irregular hyperpigmentationHPOHP:0007400
- Very frequent (80% to 99% of cases)
- Limbal dermoidHPOHP:0001140
- Very frequent (80% to 99% of cases)
- Lower limb asymmetryHPOHP:0100559
- Very frequent (80% to 99% of cases)
- MyopiaHPOHP:0000545
- Very frequent (80% to 99% of cases)
- Open biteHPOHP:0010807
- Very frequent (80% to 99% of cases)
- Subcutaneous lipomaHPOHP:0001031
- Very frequent (80% to 99% of cases)
Show the remaining 19
- Abnormality of the parathyroid glandHPOHP:0000828
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- Communicating hydrocephalusHPOHP:0001334
- Frequent (30% to 79% of cases)
- ExostosesHPOHP:0100777
- Frequent (30% to 79% of cases)
- Heterochromia iridisHPOHP:0001100
- Frequent (30% to 79% of cases)
- HydrocephalusHPOHP:0000238
- Frequent (30% to 79% of cases)
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.
- PTENHGNC:9588
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: Proteus-like syndrome
- Also called
- Cohen-Hayden syndrome