PTEN hamartoma tumor syndrome
Synonyms: PHTS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A group rare skin tumor or hamartoma diseases characterized by a germline PTEN mutation and clinical manifestations of hamartomas, overgrowth, and increased risk of neoplasia, notably breast carcinomas, epithelial thyroid carcinomas, endometrial carcinomas, renal cell carcinomas, and colorectal carcinoma. Non-malignant manifestations include macrocephaly, benign thyroid pathology (especially Hashimoto thyroiditis), mucocutaneous hamartomas, colonic polyps, and vascular malformations. Diseases in this group include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus-like syndrome, Lhermitte-Duclos disease, and Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PTEN hamartoma tumor syndrome | PHTS |
| fr | Syndrome tumoral hamartomateux associé à PTEN | PHTS · PTHS |
| de | PTEN-Hamartom-Tumorsyndrom | = en |
| es | Síndrome de tumor hamartoma asociado al gen PTEN | = en |
| it | Sindrome tumorale amartomatosa legata a PTEN | = en |
| nl | PTEN-hamartoom-tumorsyndroom | = en |
| pt | Síndrome do hamartoma PTEN | |
| pl | Zespół guzów hamartomatycznych związanych z mutacjami PTEN | = en |
| cs | Syndrom PTEN asociovaných hamartomů | = en |
| uk | Синдром пухлинної гамартоми PTEN | = en |
| zh | PTEN错构瘤肿瘤综合征 | PTEN错构瘤肿瘤综合征 |
| tr | PTEN hamartom tümör sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q85.8 | NTBT | attributed | not yet validated |
| ICD-11 | LD2D.Y | NTBT | index | validated |
| MONDO | 0017623 | E | validated | |
| UMLS | C1959582 | E | validated | |
| GARD | 12800 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:183487Genetic skin tumor or hamartoma
rare genetic diseases - ORPHA:98196Malformation syndrome with hamartosis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:717877Rare miscellaneous disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic diseases
Genes
0 direct · 5 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| PTEN | ORPHA:201Cowden syndrome | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9588 | ENSG00000171862 | 601728 | 10q23.31 | phosphatase and tensin homolog | |
| PTEN | ORPHA:65285Lhermitte-Duclos disease | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9588 | ENSG00000171862 | 601728 | 10q23.31 | phosphatase and tensin homolog | 14566704[PMID] |
| PTEN | ORPHA:109Bannayan-Riley-Ruvalcaba syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:9588 | ENSG00000171862 | 601728 | 10q23.31 | phosphatase and tensin homolog | 20301661[PMID] |
| PTEN | ORPHA:2969Proteus-like syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:9588 | ENSG00000171862 | 601728 | 10q23.31 | phosphatase and tensin homolog | 10749983[PMID]_20301661[PMID] |
| PTEN | ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:9588 | ENSG00000171862 | 601728 | 10q23.31 | phosphatase and tensin homolog | 17392703[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 9 / 100 000 | Worldwide | Value and class | Validated | 40231587[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/306498
- This record as JSON: /data/d/306498.json