Peutz-jeghers Syndrome; Pjs

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Peutz-jeghers Syndrome; Pjs

  • Neoplasm
  • Hypertension
  • Edema
  • Diarrhea
  • Headache
  • Dilatation
  • Hyperhidrosis
  • Abdominal pain
  • Carcinoma
  • Abnormality of the kidney

And another 46 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Peutz-jeghers Syndrome; Pjs Is also known as polyps-and-spots syndrome, polyposis, hamartomatous intestinal.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Peutz-jeghers Syndrome; Pjs Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary High Risk Breast Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

BRCA1, BRCA2, STK11, TP53, CDH1, PALB2, PTEN
Specificity
15 %
Genes
100 %
Hereditary High Risk Breast Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

BRCA1, BRCA2, STK11, TP53, CDH1, PALB2, PTEN
Specificity
15 %
Genes
100 %
Hereditary Pancreatic Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, CDK4, CDKN2A, PALB2, APC, SMAD4, MLH1, MSH2, MSH6, ATM, PMS2, RAD50
Specificity
6 %
Genes
100 %
High Risk Hereditary Colorectal Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

BMPR1A, STK11, EPCAM, TP53, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN
Specificity
9 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Hereditary Colorectal/Gastrointestinal Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, CDK4, CDKN2A, PALB2, ENG, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, ATM, PMS1, PMS2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
LKB1 Gene Characterization.

By Molecular Pathology Laboratory University of Pennsylvania Health System (United States).

STK11
Specificity
100 %
Genes
100 %
Comprehensive breast and ovarian cancer panel testing (18 genes).

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, BRIP1, PALB2, MLH1, MSH2, MSH6, MUTYH, ATM, PMS2, PTEN, RAD51C, RAD51D
Specificity
6 %
Genes
100 %

You can get up to 247 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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