Proteus syndrome
Findings
No curated finding names Proteus syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.
Definition from the Mondo Disease Ontology (MONDO:0008318), read 2026-09-29. CC BY 4.0.
- Inheritance
- Typified by somatic mosaicism
HPO, annotations 2026-09-02
Features
115 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.
- Cerebriform connective tissue nevusHPOHP:6000009
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Abnormal finger morphologyHPOHP:0001167
- Very frequent (80% to 99% of cases)
- Abnormal skin pigmentationHPOHP:0001000
- Very frequent (80% to 99% of cases)
- Abnormal subcutaneous fat tissue distributionHPOHP:0007552
- Very frequent (80% to 99% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
- Arteriovenous malformationHPOHP:0100026
- Very frequent (80% to 99% of cases)
Show the remaining 103
- Disproportionate tall statureHPOHP:0001519
- Very frequent (80% to 99% of cases)
- Epidermal nevusHPOHP:0010816
- Very frequent (80% to 99% of cases)
- Irregular hyperpigmentationHPOHP:0007400
- Very frequent (80% to 99% of cases)
- KyphosisHPOHP:0002808
- Very frequent (80% to 99% of cases)
- LipomaHPOHP:0012032
- Very frequent (80% to 99% of cases)
- Lower limb asymmetryHPOHP:0100559
- Very frequent (80% to 99% 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.
- AKT1HGNC:391
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: Proteus syndrome
- Also called
- partial gigantism-nevi-hemihypertrophy-macrocephaly syndromeproteus syndrome, somaticWiedemann's syndrome