PTEN Hamartoma Tumor Syndrome

Preferred Label : PTEN Hamartoma Tumor Syndrome;

NCIt synonyms : PHTS;

NCIt definition : A rare, autosomal dominant hereditary syndrome caused by germline mutation in the PTEN gene. It manifests with macrocephaly, neurocognitive deficits, hamartomas in multiple locations, polyposis, vascular abnormalities, and an increased risk of developing malignant tumors, particularly breast, thyroid, and endometrial carcinoma.;

Details

Origin ID

C179915;

UMLS CUI

C1959582;

Currated CISMeF NLP mapping
- PTEN hamartoma tumor syndrome [DO Concept]
- PTEN hamartoma tumor syndrome [MeSH concept]
- PTEN hamartoma tumor syndrome [ORDO Disease]
- PTEN hamartoma tumor syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Cowden syndrome 1 [DO Concept]
- PTEN hamartoma tumor syndrome [DO Concept]
See also inter- (CISMeF)
- Cowden syndrome 1 [OMIM Phenotype]
- Ly6/plaur domain-containing protein 1 [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- PTEN hamartoma tumor syndrome [MeSH concept]
- PTEN hamartoma tumor syndrome [ORDO Disease]
- PTEN hamartoma tumor syndrome (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- hamartoma syndrome, multiple [MeSH Descriptor]
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]
- Macrocephaly [NCIt concept]
- Polyposis [NCIt concept]
- Vascular Disorder [NCIt concept]
pathogenesis_of_disease_involves_gene
- PTEN Gene [NCIt concept]
- PTEN wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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