Details of Disease

General Information of Disease (ID: DISR6ULG)

Disease Name PTEN hamartoma tumor syndrome
Synonyms PHTS; PTEN hamartoma tumor syndrome
Definition
A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS.
Disease Hierarchy
DIS7GG31: Developmental defect during embryogenesis
DISR6ULG: PTEN hamartoma tumor syndrome
Disease Identifiers
MONDO ID
MONDO_0017623
MESH ID
D006223
UMLS CUI
C1959582
MedGen ID
368366
Orphanet ID
306498
SNOMED CT ID
722859001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FGFR2 TTGJVQM moderate Biomarker [1]
PTEN TTEUQ4M Definitive Autosomal dominant [2]
PTEN TTXJ3W7 Definitive Biomarker [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LYPD1 OT0HSGML Strong Genetic Variation [4]
PTEN OTOWDUNT Definitive Autosomal dominant [2]
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References

1 Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.Hum Mol Genet. 1997 Jan;6(1):137-43. doi: 10.1093/hmg/6.1.137.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3 Soft tissue angiomatosis: another PIK3CA-related disorder.Histopathology. 2020 Mar;76(4):540-549. doi: 10.1111/his.14021. Epub 2020 Jan 24.
4 Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory Tcells.J Allergy Clin Immunol. 2017 Feb;139(2):607-620.e15. doi: 10.1016/j.jaci.2016.03.059. Epub 2016 Jun 18.