loading...| Preferred Name |
PTEN hamartoma tumor syndrome |
|
| Synonyms |
PHTS |
|
| Definitions |
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. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_306498 |
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| alternative_term |
PHTS |
|
| definition |
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. |
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| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306498 |
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| has_age_of_onset |
All ages |
|
| has_inheritance |
Autosomal dominant |
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| hasDbXref |
UMLS:C1959582 |
|
| label |
PTEN hamartoma tumor syndrome |
|
| notation |
ORPHA:306498 Clinical group |
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| prefixIRI |
ORDO:Orphanet_306498 |
|
| prefLabel |
PTEN hamartoma tumor syndrome |
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| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
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| subClassOf |
http://www.orpha.net/ORDO/Orphanet_98196 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_79386 |