ORPHA:201
Cowden syndrome
Synonyms: Cowden disease · Multiple hamartoma syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cowden syndrome | Cowden disease · Multiple hamartoma syndrome |
| fr | Syndrome de Cowden | Maladie de Cowden · Syndrome des hamartomes multiples |
| de | Cowden-Syndrom | Cowden-Krankheit · Multiples Hamartom-Syndrom |
| es | Síndrome de Cowden | Enfermedad de Cowden · Síndrome de hamartoma múltiple |
| it | Sindrome di Cowden | Malattia di Cowden · Sindrome da amartomi multipli |
| nl | Syndroom van Cowden | Multipele hamartomen-syndroom · Ziekte van Cowden |
| pt | Síndrome Cowden | Síndrome de hamartoma múltiplo |
| pl | Zespół Cowdena | Choroba Cowdena · Zespół mnogich zmian typu hamartoma |
| cs | Cowdenův syndrom | Cowdenova nemoc · Syndrom mnohočetných hamartomů |
| uk | Синдром Коудена | Хвороба Коудена · Синдром множинної гамартоми |
| zh | Cowden综合征 | 多发性错构瘤综合征 |
| tr | Cowden sendromu | Cowden hastalığı · Çoklu hamartom sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 158350 | BTNT | validated | |
| OMIM | 615107 | BTNT | validated | |
| OMIM | 615108 | BTNT | validated | |
| OMIM | 615109 | BTNT | validated | |
| OMIM | 616858 | BTNT | validated | |
| ICD-10 | Q85.8 | NTBT | attributed | validated |
| ICD-11 | LD2D.Y | NTBT | index | validated |
| MONDO | 0016063 | E | validated | |
| MeSH | D006223 | E | validated | |
| UMLS | C0018553 | E | validated | |
| GARD | 6202 | E | validated | |
| MedDRA | 10051906 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:271835Genetic digestive tract tumor
rare genetic diseases - ORPHA:589746Inherited gynecological cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:104010Intestinal polyposis syndrome
rare gastroenterological diseases; rare genetic diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:306498PTEN hamartoma tumor syndrome
rare developmental anomalies during embryogenesis; rare gastroenterological diseases; rare genetic diseases; rare skin diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:622914Rare genetic nevus
rare genetic diseases - ORPHA:294057Rare nevus
rare skin diseases; rare neoplastic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PTEN | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9588 | ENSG00000171862 | 601728 | 10q23.31 | phosphatase and tensin homolog |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.45 / 100 000 | Netherlands | Value and class | Validated | 10234502[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 10234502[PMID]_35422633[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.
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HPO phenotypes
57 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003002 | Breast carcinoma | |
| HP:0200063 | Colorectal polyposis | |
| HP:0100780 | Conjunctival hamartoma | |
| HP:0005595 | Generalized hyperkeratosis | |
| HP:0000853 | Goiter | |
| HP:0012733 | Macule | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0012740 | Papilloma | |
| HP:0200034 | Papule | |
| Frequent (79-30%) | ||
| HP:0000036 | Abnormality of the penis | |
| HP:0000820 | Abnormality of the thyroid gland | |
| HP:0009720 | Adenoma sebaceum | |
| HP:0001251 | Ataxia | |
| HP:0001048 | Cavernous hemangioma | |
| HP:0100543 | Cognitive impairment | |
| HP:0010614 | Fibroma | |
| HP:0000221 | Furrowed tongue | |
| HP:0001263 | Global developmental delay | |
| HP:0004390 | Hamartomatous polyposis | |
| HP:0001249 | Intellectual disability | |
| HP:0012032 | Lipoma | |
| HP:0000256 | Macrocephaly | |
| HP:0000158 | Macroglossia | |
| HP:0000995 | Melanocytic nevus | |
| HP:0002858 | Meningioma | |
| HP:0100579 | Mucosal telangiectasiae | |
| HP:0002664 | Neoplasm | |
| HP:0001482 | Subcutaneous nodule | |
| Occasional (29-5%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0000130 | Abnormality of the uterus | |
| HP:0000717 | Autism | |
| HP:0012062 | Bone cyst | |
| HP:0001156 | Brachydactyly | |
| HP:0000518 | Cataract | |
| HP:0005374 | Cellular immunodeficiency | |
| HP:0012114 | Endometrial carcinoma | |
| HP:0008675 | Enlarged polycystic ovaries | |
| HP:0001508 | Failure to thrive | |
| HP:0006731 | Follicular thyroid carcinoma | |
| HP:0000771 | Gynecomastia | |
| HP:0000365 | Hearing impairment | |
| HP:0000218 | High palate | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0002808 | Kyphosis | |
| HP:0002861 | Melanoma | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0000545 | Myopia | |
| HP:0100006 | Neoplasm of the central nervous system | |
| HP:0100031 | Neoplasm of the thyroid gland | |
| HP:0000767 | Pectus excavatum | |
| HP:0005584 | Renal cell carcinoma | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/201
- This record as JSON: /data/d/201.json