Juvenile Polyposis Syndrome; Jps
Description
Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.
Clinical Features
Top most frequent phenotypes and symptoms related to Juvenile Polyposis Syndrome; Jps
- Seizures
- Neoplasm
- Failure to thrive
- Pain
- Cryptorchidism
- Anemia
- Hypertension
- Macrocephaly
- Fatigue
- Respiratory distress
And another 39 symptoms. If you need more information about this disease we can help you.
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
Juvenile Polyposis Syndrome; Jps Is also known as polyposis, juvenile intestinal, pji, jip, juvenile intestinal polyposis, polyposis, familial, of entire gastrointestinal tract.
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.
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Juvenile Polyposis Syndrome; Jps Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 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
12 %
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
17 %
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
4 %
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
10 %
Genes
100 % |
|
Comprehensive Pulmonary Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)
View the complete list with 73 more genes
Specificity
2 %
Genes
50 % |
|
Arterial Hypertension Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
BMPR1B, BMPR2, CAV1, ACVRL1, ABCA3, ENG, GDF2, KCNA5, KCNK3, SMAD4, SMAD9
Specificity
10 %
Genes
50 % |
|
NGS Vascular Disorders Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14 , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
50 % |
|
SMAD4 Gene Characterization.
By Molecular Pathology Laboratory University of Pennsylvania Health System (United States).
SMAD4
Specificity
100 %
Genes
50 % |
Sources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SIFRIM-HITZ-WEISS SYNDROME; SIHIWES HYPERLIPOPROTEINEMIA, TYPE V STIFF SKIN SYNDROME; SSKS MENTAL RETARDATION, AUTOSOMAL DOMINANT 44; MRD44 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS
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