Cowden syndrome 1

Preferred Label : Cowden syndrome 1;

Symbol : CWS1;

CISMeF acronym : BBRS; BZS; CD; CPD6; CWS1; LDD; MHAM; PHTS; RMSS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cs; Multiple hamartoma syndrome; CD; MHAM; Bannayan-zonana syndrome; Macrocephaly, pseudopapilledema, and multiple hemangiomata; PHTS; Ruvalcaba-myhre-smith syndrome; Bannayan-riley-ruvalcaba syndrome; RMSS; BBRS; Macrocephaly, multiple lipomas, and hemangiomata; BZS; Pten hamartoma tumor syndrome with granular cell tumor; Riley-smith syndrome; Pten hamartoma tumor syndrome;

Included titles and symbols : Dysplastic gangliocytoma of the cerebellum; Cerebelloparenchymal disorder VI; Cerebellar granule cell hypertrophy and megalencephaly; Lhermitte-duclos disease; Proteus-like syndrome; CPD6; LDD;

Description : Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome (BRRS; 153480) share clinical characteristics such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms. Furthermore, both conditions and several other distinctive phenotypes are caused by mutations in the PTEN gene. For this reason Marsh et al. (1999) suggested that the spectrum of disorders be referred to as PTEN hamartoma tumor syndrome (PHTS). Approximately 80% of CS patients have PTEN mutations (Blumenthal and Dennis, 2008). Blumenthal and Dennis (2008) provided a detailed review of PTEN hamartoma tumor syndromes. - Genetic Heterogeneity of Cowden Syndrome Mutations in the SDHB gene (185470) on chromosome 1p36.1-p35 cause Cowden syndrome-2 (CWD2; 612359). Mutations in the SDHD gene (602690) on chromosome 11q23 cause Cowden syndrome-3 (CWD3; 615106). Hypermethylation of the promoter of the KLLN gene (612105), which shares the same transcription site as the PTEN gene on 10q23, results in Cowden syndrome-4 (CWD4; 615107). Mutations in PIK3CA (171834) on 3q26.3 cause Cowden syndrome-5 (CWD5; 615108). Mutations in AKT1 (164730) on 14q32.3 cause Cowden syndrome-6 (CWD6; 615109).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the phosphatase and tensin homolog gene (PTEN, 601728.0001);

Neoplasia : Breast cancer; Ovarian carcinoma; Cervical carcinoma; Uterine adenocarcinoma; Thyroid cancer (follicular cell); Transitional cell carcinoma of the bladder; Meningioma; Mucosal neuromas;

Prefixed ID : #158350;

Details

Origin ID

158350;

UMLS CUI

C0018553;

Automatic exact mappings (from CISMeF team)
- C Ag [LOINC component]
- CS Term Type [NCIt concept]
- CTLA4 wt Allele [NCIt concept]
- CYP2D6 wt Allele [NCIt concept]
- Cadmium [MedDRA LLT]
- Cadmium [LOINC component]
- Cadmium [NCIt concept]
- Calorie [NCIt concept]
- Candela [NCIt concept]
- Caudal [FMA entity]
- Centi [NCIt concept]
- Centisecond [NCIt concept]
- Cervical spondylosis without myelopathy or radiculopathy [ICD-11 More detail]
- Clinical diagnosis (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Cluster of Differentiation [NCIt concept]
- Cocaine [LOINC component]
- Coded Simple Value Data Type [NCIt concept]
- Collaborative Staging [NCIt concept]
- Concept Descriptor [NCIt concept]
- Congo, the Democratic Republic of the [NCIt concept]
- Coulomb [NCIt concept]
- Crohn disease [ICD-11 Category]
- Degree Celsius [NCIt concept]
- Dysplastic Cerebellar Gangliocytoma [NCIt concept]
- Dysplastic cerebellar gangliocytoma [ICD-11 More detail]
- Dysplastic gangliocytoma of the cerebellum [HPO term]
- HLA-DQA1 wt Allele [NCIt concept]
- Lhermitte-Duclos disease [ORDO Disease]
- Lhermitte-Duclos disease [PASCAL descriptor]
- Lhermitte-Duclos disease [MeSH concept]
- Lhermitte-Duclos disease (disorder) [SNOMED CT concept]
- Lower case Roman letter c (qualifier value) [SNOMED CT concept]
- Lunch [NCIt concept]
- NOD2 wt Allele [NCIt concept]
- PTEN wt Allele [NCIt concept]
- Proteus-Like syndrome [MeSH concept]
- Roman numeral C (qualifier value) [SNOMED CT concept]
- SPANXC wt Allele [NCIt concept]
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome [ORDO Disease]
- Single delivery by caesarean section [ICD-11 Category]
- Upper case Roman letter C (qualifier value) [SNOMED CT concept]
- With [NCIt concept]
- cadmium [MeSH concept]
- cadmium [MeSH Descriptor]
- cadmium, nos [SNOMED Notion]
- candela (qualifier value) [SNOMED CT concept]
- caudal [SNOMED Notion]
- central dorsal nucleus of thalamus [UBERON concept]
- central sulcus [UBERON concept]
- cerebellar granule cell hypertrophy and megalencephaly [MeSH concept]
- cerebellar granule cell hypertrophy and megalencephaly [MeSH Supplementary Concept]
- cerebelloparenchymal disorder VI [MeSH concept]
- cerebelloparenchymal disorder VI [MeSH Supplementary Concept]
- compact disks [MeSH Descriptor]
- cytotoxic T-lymphocyte associated protein 4 [ORDO Gene]
- dysplastic gangliocytoma of cerebellum [Radlex concept]
- growth and development [MeSH Qualifier]
- nucleotide binding oligomerization domain containing 2 [ORDO Gene]
- proteus syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Bannayan syndrome (disorder) [SNOMED CT concept]
- Bannayan-Riley-Ruvalcaba Syndrome [NCIt concept]
- Bannayan-Riley-Ruvalcaba Syndrome [MeSH concept]
- Bannayan-Riley-Ruvalcaba syndrome [ORDO Disease]
- Bannayan-Riley-Ruvalcaba syndrome [DO Concept]
- Bannayan-Riley-Ruvalcaba syndrome [ICD-11 More detail]
- Bannayan-Riley-Ruvalcaba syndrome [MedDRA Preferred Term]
- Bannayan-Riley-Ruvalcaba syndrome [PASCAL descriptor]
- Riley-Smith syndrome (disorder) [SNOMED CT concept]
- Ruvalcaba Myhre Smith syndrome [Disease (Nov.)]
- Ruvalcaba-Myhre syndrome (disorder) [SNOMED CT concept]
- riley-smith syndrome [SNOMED Notion]
- ruvalcaba-myhre syndrome [SNOMED Notion]
DO Cross reference
- Bannayan-Riley-Ruvalcaba syndrome [DO Concept]
False automatic mappings
- Celiac disease [ORDO Disease]
- Chad [NCIt concept]
- Chosen Chinese [NCIt concept]
- Cisplatin/Cyclophosphamide Regimen [NCIt concept]
- Cortical Cataract [NCIt concept]
- Costa Rica [NCIt concept]
Genes related to phenotype
- Phosphatase and tensin homolog [OMIM gene]
HPO term(s)
- Abnormality of the vasculature [HPO term]
- Acrokeratosis [HPO term]
- Adult onset [HPO term]
- Angioid streaks of the fundus [HPO term]
- Autosomal dominant inheritance [HPO term]
- Breast carcinoma [HPO term]
- Carcinoma [HPO term]
- Cataract [HPO term]
- Colonic diverticula [HPO term]
- Decreased circulating antibody level [HPO term]
- Dysplastic gangliocytoma of the cerebellum [HPO term]
- Fibroadenoma of the breast [HPO term]
- Furrowed tongue [HPO term]
- Global developmental delay [HPO term]
- Goiter [HPO term]
- Gynecomastia [HPO term]
- Hamartomatous polyposis [HPO term]
- Hearing impairment [HPO term]
- Hemimegalencephaly [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hydrocele testis [HPO term]
- Hyperthyroidism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypothyroidism [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Intention tremor [HPO term]
- Kyphosis [HPO term]
- Lymphopenia [HPO term]
- Meningioma [HPO term]
- Micrognathia [HPO term]
- Myopia [HPO term]
- Narrow mouth [HPO term]
- Ovarian carcinoma [HPO term]
- Ovarian cyst [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Pectus excavatum [HPO term]
- Progressive macrocephaly [HPO term]
- Recurrent infections [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Skin tags [HPO term]
- Subcutaneous lipoma [HPO term]
- Thyroid adenoma [HPO term]
- Thyroiditis [HPO term]
- Transitional cell carcinoma of the bladder [HPO term]
- Varicocele [HPO term]
ORDO concept(s)
- Bannayan-Riley-Ruvalcaba syndrome [ORDO Disease]
- Cowden syndrome [ORDO Disease]
- Lhermitte-Duclos disease [ORDO Disease]
- Proteus-like syndrome [ORDO Disease]
See also inter- (CISMeF)
- PTEN Hamartoma Tumor Syndrome [NCIt concept]
- PTEN hamartoma tumor syndrome [ORDO Disease]
- PTEN hamartoma tumor syndrome [DO Concept]
- PTEN hamartoma tumor syndrome [MeSH concept]
- PTEN hamartoma tumor syndrome (disorder) [SNOMED CT concept]
- Proteus-like syndrome [ORDO Disease]
- pten hamartoma tumor syndrome with granular cell tumor [MeSH concept]
- pten hamartoma tumor syndrome with granular cell tumor [MeSH Supplementary Concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Cowden Syndrome [NCIt concept]
- Cowden syndrome [MedDRA LLT]
- Cowden syndrome [ORDO Disease]
- Cowden syndrome (disorder) [SNOMED CT concept]
- Cowden's disease [MedDRA Preferred Term]
- Multiple hamartoma syndrome [MedDRA LLT]
- cowden syndrome [SNOMED Notion]
- hamartoma syndrome, multiple [MeSH Descriptor]
- hamartoma syndrome, multiple [MeSH concept]
- multiple hamartoma syndrome [Disease (Nov.)]
Validated automatic mappings to NTBT
- Cowden Syndrome [NCIt concept]
- Cowden syndrome [PASCAL descriptor]
- Cowden syndrome [DO Concept]
- Cowden syndrome [ICD-11 More detail]
- Cowden syndrome [ORDO Disease]
- Cowden syndrome [MedDRA LLT]
- Cowden syndrome (disorder) [SNOMED CT concept]
- Cowden's disease [MedDRA Preferred Term]
- Multiple hamartoma syndrome [MedDRA LLT]
- cowden syndrome [SNOMED Notion]
- hamartoma syndrome, multiple [MeSH Descriptor]
- hamartoma syndrome, multiple [MeSH concept]
- multiple hamartoma syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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