Proteus syndrome

Preferred Label : Proteus syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly;

Included titles and symbols : Elattoproteus syndrome;

Description : Proteus syndrome is a highly variable, severe disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. Many features of Proteus syndrome overlap with other overgrowth syndromes (Turner et al., 2004). Some authors (Zhou et al., 2000, 2001; Smith et al., 2002) have reported a 'Proteus-like' syndrome associated with germline and tissue-specific somatic mutations in the PTEN gene (601728), which is mutated in Cowden syndrome (158350) and Bannayan-Riley-Ruvalcaba syndrome (BRRS; 153480). See 158350 for a discussion of these patients.;

Inheritance : Somatic mutation;

Molecular basis : Caused by somatic mutation in the AKT serine/threonine kinase 1 gene (AKT1, 164730.0001);

Neoplasia : Ovarian cystadenoma; Parotid monomorphic adenoma;

Prefixed ID : #176920;

Details

Origin ID

176920;

UMLS CUI

C0085261;

Automatic exact mappings (from CISMeF team)
- macrocephaly mesodermal hamartoma spectrum [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Proteus Syndrome [NCIt concept]
- Proteus syndrome [PASCAL descriptor]
- Proteus syndrome [DO Concept]
- Proteus syndrome [ICD-11 More detail]
- Proteus syndrome [ORDO Disease]
- Proteus syndrome [MedDRA Preferred Term]
- Proteus syndrome (disorder) [SNOMED CT concept]
- proteus syndrome [Disease (Nov.)]
- proteus syndrome [MeSH Descriptor]
- proteus syndrome [MeSH concept]
- proteus syndrome [SNOMED Notion]
DO Cross reference
- Proteus syndrome [DO Concept]
Genes related to phenotype
- Akt serine/threonine kinase 1 [OMIM gene]
HPO term(s)
- Calvarial hyperostosis [HPO term]
- Deep venous thrombosis [HPO term]
- Depigmentation/hyperpigmentation of skin [HPO term]
- Depressed nasal bridge [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epidermal acanthosis [HPO term]
- Epidermal nevus [HPO term]
- Facial hyperostosis [HPO term]
- Hemangioma [HPO term]
- Hemihypertrophy [HPO term]
- Hyperkeratosis [HPO term]
- Hypertrophy of skin of soles [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, moderate [HPO term]
- Isolated cases [HPO term]
- Kyphoscoliosis [HPO term]
- Limbal dermoid [HPO term]
- Lipoma [HPO term]
- Long face [HPO term]
- Lymphangioma [HPO term]
- Macrocephaly [HPO term]
- Mandibular hyperostosis [HPO term]
- Multiple lipomas [HPO term]
- Nevus [HPO term]
- Open mouth [HPO term]
- Progressive [HPO term]
- Ptosis [HPO term]
- Somatic mutation [HPO term]
- Spinal canal stenosis [HPO term]
- Spinal cord compression [HPO term]
- Spinal stenosis [HPO term]
- Splenomegaly [HPO term]
- Sporadic [HPO term]
- Thin bony cortex [HPO term]
- Venous malformation [HPO term]
ORDO concept(s)
- Proteus syndrome [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Proteus Syndrome [NCIt concept]
- Proteus syndrome [ORDO Disease]
- Proteus syndrome [MedDRA Preferred Term]
- Proteus syndrome [DO Concept]
- Proteus syndrome [PASCAL descriptor]
- Proteus syndrome [ICD-11 More detail]
- Proteus syndrome (disorder) [SNOMED CT concept]
- proteus syndrome [SNOMED Notion]
- proteus syndrome [MeSH Descriptor]
- proteus syndrome [MeSH concept]
- proteus syndrome [Disease (Nov.)]

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