Clinical Signs and Symptoms
ORPHA:2869 Peutz-Jeghers syndrome
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Gastrointestinal hemorrhage HP:0002239
- Abdominal pain HP:0002027
- Abnormality of the gallbladder HP:0005264
- Abnormality of the nose HP:0000366
- Abnormality of the respiratory system HP:0002086
- Abnormality of the ureter HP:0000069
- Anemia HP:0001903
- Biliary tract neoplasm HP:0100574
- Breast carcinoma HP:0003002
- Cervix cancer HP:0030079
- Enlarged polycystic ovaries HP:0008675
- Esophageal neoplasm HP:0100751
- Gastrointestinal infarctions HP:0005244
- Intestinal obstruction HP:0005214
- Melanonychia HP:0100644
- Multiple renal cysts HP:0005562
- Nasal polyposis HP:0100582
- Neoplasm HP:0002664
- Neoplasm of the colon HP:0100273
- Neoplasm of the lung HP:0100526
- Neoplasm of the nose HP:0012720
- Neoplasm of the rectum HP:0100743
- Neoplasm of the small intestine HP:0100833
- Pancreatic adenocarcinoma HP:0006725
- Rectal prolapse HP:0002035
- Renal cell carcinoma HP:0005584
- Stomach cancer HP:0012126
- Vomiting HP:0002013
Specialised Social Services
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.