loading...| Preferred Name |
Cowden syndrome |
|
| Synonyms |
Cowden disease |
|
| Definitions |
A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline <i>PTEN</i> mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_201 |
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| alternative_term |
Cowden disease Multiple hamartoma syndrome |
|
| definition |
A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 |
|
| has_age_of_onset |
All ages |
|
| has_inheritance |
Autosomal dominant |
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| hasDbXref |
OMIM:616858 OMIM:158350 UMLS:C0018553 ICD-10:Q85.8 ICD-11:LD2D.Y OMIM:615107 OMIM:615109 OMIM:615108 MedDRA:10051906 MeSH:D006223 |
|
| label |
Cowden syndrome |
|
| notation |
ORPHA:201 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_271835 http://www.orpha.net/ORDO/Orphanet_294057 http://www.orpha.net/ORDO/Orphanet_589746 http://www.orpha.net/ORDO/Orphanet_104010 |
|
| prefixIRI |
ORDO:Orphanet_201 |
|
| prefLabel |
Cowden syndrome |
|
| present_in |
Netherlands AND has_point_prevalence_average_value : 0.45 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_271835 http://www.orpha.net/ORDO/Orphanet_294057 http://www.orpha.net/ORDO/Orphanet_589746 http://www.orpha.net/ORDO/Orphanet_104010 |
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| subClassOf |