Peutz-Jeghers Syndrome malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Skin diseases, Fetal diseases
50OMIM, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Peutz-Jeghers Syndrome:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Uruguay); Age of onset: Adolescent,Adult,Childhood; Age of death: adult
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Gastrointestinal diseases, Skin diseases
ICD10: 29 28
Rare eye diseases
Rare gastroenterological diseases
Rare skin diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:46 Peutz-jeghers syndrome (pjs) is an inherited condition that is associated with an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). pjs is caused by changes (mutations) in the stk11 gene and is inherited in an autosomal dominant manner. management typically includes high-risk screening for associated polyps and cancers. last updated: 3/15/2015
MalaCards based summary: Peutz-Jeghers Syndrome, also known as pjs, is related to mucinous adenocarcinoma and breast cancer, and has symptoms including melanocytic nevus, hypermelanotic macule and abnormal pigmentation of the oral mucosa. An important gene associated with Peutz-Jeghers Syndrome is STK11 (Serine/Threonine Kinase 11), and among its related pathways are PI3K / Akt Signaling and Transcription Androgen Receptor nuclear signaling. Affiliated tissues include colon, small intestine and pancreas, and related mouse phenotypes are hearing/vestibular/ear and adipose tissue.
UniProtKB/Swiss-Prot:68 Peutz-Jeghers syndrome: An autosomal dominant disorder characterized by melanocytic macules of the lips, multiple gastrointestinal hamartomatous polyps and an increased risk for various neoplasms, including gastrointestinal cancer.
Genetics Home Reference:24 Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer.
OMIM:50 Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal... (175200) more...
Wikipedia:69 Peutz–Jeghers syndrome (often abbreviated PJS) is an autosomal dominant genetic disorder characterized... more...
GeneReviews summary for NBK1266
Symptoms by clinical synopsis from OMIM:175200
Clinical features from OMIM:175200
Symptoms:52 (show all 33)
HPO human phenotypes related to Peutz-Jeghers Syndrome:(show all 44)
UMLS symptoms related to Peutz-Jeghers Syndrome:pigmentation lip
Drugs for Peutz-Jeghers Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:(show all 15)
Search NIH Clinical Center for Peutz-Jeghers Syndrome
MalaCards organs/tissues related to Peutz-Jeghers Syndrome:34
Colon, Small intestine, Pancreas, Eye, Breast, Cervix, Ovary
MGI Mouse Phenotypes related to Peutz-Jeghers Syndrome:39 (show all 30)
Articles related to Peutz-Jeghers Syndrome:(show top 50) (show all 575)
UniProtKB/Swiss-Prot genetic disease variations for Peutz-Jeghers Syndrome:68
Clinvar genetic disease variations for Peutz-Jeghers Syndrome:5 (show all 30)
Copy number variations for Peutz-Jeghers Syndrome from CNVD:6
Search GEO for disease gene expression data for Peutz-Jeghers Syndrome.
Pathways related to Peutz-Jeghers Syndrome according to GeneCards Suite gene sharing:(show all 44)
Cellular components related to Peutz-Jeghers Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Peutz-Jeghers Syndrome according to GeneCards Suite gene sharing:(show all 31)
Molecular functions related to Peutz-Jeghers Syndrome according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet