Proteus-Like Syndrome

Preferred Label : Proteus-Like Syndrome;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the PTEN gene, encoding phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN. It is considered a type of PTEN-hamartoma syndrome. It has many features in common with Proteus syndrome, including hamartomous overgrowth of multiple tissues, cerebriform connective tissue nevi, vascular malformations and linear epidermal nevi, but has not been associated with AKT1 gene mutation(s).;

Details

Origin ID

C179930;

UMLS CUI

C1866398;

Currated CISMeF NLP mapping
- Proteus-Like syndrome [MeSH concept]
- Proteus-like syndrome [ORDO Disease]
See also inter- (CISMeF)
- proteus syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Proteus like syndrome (disorder) [SNOMED CT concept]
- Proteus-Like syndrome [MeSH concept]
disease_has_associated_disease
- Hamartoma [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- PTEN Gene Mutation [NCIt concept]
disease_mapped_to_gene
- PTEN Gene [NCIt concept]
disease_may_have_associated_disease
- Breast Carcinoma [NCIt concept]
- Differentiated Thyroid Gland Carcinoma [NCIt concept]
- Endometrial Carcinoma [NCIt concept]
- Epidermal Nevus [NCIt concept]
- Macrocephaly [NCIt concept]
- Polyposis [NCIt concept]
- Pulmonary Embolism [NCIt concept]
- Vascular Disorder [NCIt concept]

Keyword's position in hierarchy(ies) :

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