Peutz-jeghers syndrome

Preferred Label : Peutz-jeghers syndrome;

Symbol : PJS;

CISMeF acronym : PJS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Polyps-and-spots syndrome; Polyposis, hamartomatous intestinal;

Description : Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the serine/threonine protein kinase 11 gene (STK11, 602216.0001);

Neoplasia : Gastrointestinal carcinoma; Breast cancer (ductal); Thyroid cancer; Lung; Pancreatic cancer; Uterine cancer; Sertoli cell testicular tumors; Ovarian sex cord tumors;

Prefixed ID : #175200;

Details

Origin ID

175200;

UMLS CUI

C0031269;

Automatic exact mappings (from CISMeF team)
- Other phakomatoses, not elsewhere classified [ICD-10 Sub-category]
- Other phakomatoses, not elsewhere classified [ICD-10 Sub-category (who)]
- Peutz-Jeghers syndrome [ACR pathology]
- STK11 wt Allele [NCIt concept]
- serine/threonine kinase 11 [ORDO Gene]
- serine/threonine kinase 11 [HGNC gene]
Currated CISMeF NLP mapping
- Peutz Jeghers syndrome [Disease (Nov.)]
- Peutz-Jeghers Syndrome [NCIt concept]
- Peutz-Jeghers syndrome [PASCAL descriptor]
- Peutz-Jeghers syndrome [DO Concept]
- Peutz-Jeghers syndrome [ICD-11 Subcategory]
- Peutz-Jeghers syndrome [MedDRA Preferred Term]
- Peutz-Jeghers syndrome [MeSH concept]
- Peutz-Jeghers syndrome [ORDO Disease]
- Peutz-Jeghers syndrome (disorder) [SNOMED CT concept]
- peutz-jeghers syndrome [MeSH Descriptor]
- peutz-jeghers syndrome [SNOMED Notion]
DO Cross reference
- Peutz-Jeghers syndrome [DO Concept]
Genes related to phenotype
- Serine/threonine protein kinase 11 [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Abnormality of the ureter [HPO term]
- Autosomal dominant inheritance [HPO term]
- Biliary tract abnormality [HPO term]
- Bladder polyp [HPO term]
- Breast carcinoma [HPO term]
- Clubbing [HPO term]
- Clubbing of fingers [HPO term]
- Gastrointestinal carcinoma [HPO term]
- Gynecomastia [HPO term]
- Hamartomatous polyposis [HPO term]
- Hypermelanotic macule [HPO term]
- Hyperpigmented spots on hands , legs, and lips [HPO term]
- Intestinal bleeding [HPO term]
- Intussusception [HPO term]
- Iron deficiency anemia [HPO term]
- Labial melanotic macule [HPO term]
- Nasal polyposis [HPO term]
- Nasal polyps [HPO term]
- Neoplasm of the pancreas [HPO term]
- Oral melanotic macule [HPO term]
- Ovarian cyst [HPO term]
- Precocious puberty with Sertoli cell tumor [HPO term]
- Rectal prolapse [HPO term]
- Uterine neoplasm [HPO term]
ORDO concept(s)
- Peutz-Jeghers syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Peutz Jeghers syndrome [Disease (Nov.)]
- Peutz-Jeghers Syndrome [NCIt concept]
- Peutz-Jeghers syndrome [MedDRA Preferred Term]
- Peutz-Jeghers syndrome [ORDO Disease]
- Peutz-Jeghers syndrome [MeSH concept]
- Peutz-Jeghers syndrome [DO Concept]
- Peutz-Jeghers syndrome [PASCAL descriptor]
- Peutz-Jeghers syndrome (disorder) [SNOMED CT concept]
- peutz-jeghers syndrome [SNOMED Notion]
- peutz-jeghers syndrome [MeSH Descriptor]

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