Details of Disease

General Information of Disease (ID: DISF27ZJ)

Disease Name Peutz-Jeghers syndrome
Synonyms
polyposis, hamartomatous intestinal; periorificial lentiginosis syndrome; Peutz Jeghers polyposis; lentiginosis, perioral; polyps-and-Spots syndrome; polyps and spots syndrome; Jeghers-Peutz syndrome; colonic hamartomatous polyp; gastric Peutz-Jeghers polyp; Peutz-Jeghers small bowel hamartoma; Peutz Jeghers Syndrome; Peutz's syndrome; Peutz-Jeghers syndrome; Peutz Jeghers colon polyp; Peutz-Jeghers polyp of small intestine; hamartomatous intestinal polyposis; PJS
Definition
Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies.
Disease Hierarchy
DISFZFI4: Intestinal polyposis syndrome
DISF27ZJ: Peutz-Jeghers syndrome
Disease Identifiers
MONDO ID
MONDO_0008280
MESH ID
D010580
UMLS CUI
C0031269
OMIM ID
175200
MedGen ID
18404
Orphanet ID
2869
SNOMED CT ID
54411001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CDC37 TT5SOEU Strong Biomarker [1]
NEK6 TT8I2M7 Strong Genetic Variation [2]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC25A21 DT2UQYR Strong Altered Expression [3]
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This Disease Is Related to 15 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CENPJ OTZCQZN5 Limited Biomarker [4]
LIAS OTOSW67J Limited Biomarker [4]
MYH11 OTVNVWY3 Limited Genetic Variation [5]
PPFIA1 OTYYFA9C Limited Biomarker [4]
STK11IP OTLQ6P8R Limited Biomarker [4]
STRADA OTG1Z6TY moderate Genetic Variation [6]
ARID3A OTZZ4SFP Strong Genetic Variation [7]
CAB39 OT2CL9ST Strong Biomarker [8]
DEFA5 OT95CBQ9 Strong Biomarker [9]
FNDC3A OTUX3S2I Strong Biomarker [10]
IFITM1 OTECO1G8 Strong Altered Expression [11]
MARK4 OT6Z2TGV Strong Genetic Variation [12]
PTPRH OTDUHQGF Strong Genetic Variation [13]
TESC OTI8C76M Strong Biomarker [14]
STK11 OT1YZSP3 Definitive Autosomal dominant [15]
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⏷ Show the Full List of 15 DOT(s)

References

1 Stability of the Peutz-Jeghers syndrome kinase LKB1 requires its binding to the molecular chaperones Hsp90/Cdc37.Oncogene. 2003 Dec 11;22(57):9165-75. doi: 10.1038/sj.onc.1207179.
2 A novel germline mutation of the LKB1 gene in a patient with Peutz-Jeghers syndrome with early-onset gastric cancer.J Gastroenterol. 2004 Dec;39(12):1210-4. doi: 10.1007/s00535-004-1474-y.
3 Overexpression of cyclooxygenase 2 in hamartomatous polyps of Peutz-Jeghers syndrome.Am J Gastroenterol. 2003 Mar;98(3):671-8. doi: 10.1111/j.1572-0241.2003.07328.x.
4 Search for the second Peutz-Jeghers syndrome locus: exclusion of the STK13, PRKCG, KLK10, and PSCD2 genes on chromosome 19 and the STK11IP gene on chromosome 2.Cytogenet Genome Res. 2002;97(3-4):171-8. doi: 10.1159/000066620.
5 Unregulated smooth-muscle myosin in human intestinal neoplasia.Proc Natl Acad Sci U S A. 2008 Apr 8;105(14):5513-8. doi: 10.1073/pnas.0801213105. Epub 2008 Apr 7.
6 STRAD in Peutz-Jeghers syndrome and sporadic cancers.J Clin Pathol. 2005 Oct;58(10):1091-5. doi: 10.1136/jcp.2005.026013.
7 The human dead ringer/bright homolog, DRIL1: cDNA cloning, gene structure, and mapping to D19S886, a marker on 19p13.3 that is strictly linked to the Peutz-Jeghers syndrome.Genomics. 1998 Jul 15;51(2):288-92. doi: 10.1006/geno.1998.5259.
8 Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in Peutz-Jeghers syndrome.Br J Cancer. 2005 Mar 28;92(6):1126-9. doi: 10.1038/sj.bjc.6602454.
9 An anti-adenoma antibody, Adnab-9, may reflect the risk for neoplastic progression in familial hamartomatous polyposis syndromes.Dig Dis Sci. 2008 Mar;53(3):723-9. doi: 10.1007/s10620-007-9947-5. Epub 2007 Oct 13.
10 Mutations in the human LKB1/STK11 gene.Hum Mutat. 2005 Oct;26(4):291-7. doi: 10.1002/humu.20222.
11 Wnt signaling may be activated in a subset of Peutz-Jeghers syndrome polyps closely correlating to LKB1 expression.Oncol Rep. 2010 Jun;23(6):1569-76. doi: 10.3892/or_00000797.
12 Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates.Clin Genet. 2007 Dec;72(6):568-73. doi: 10.1111/j.1399-0004.2007.00907.x. Epub 2007 Oct 9.
13 Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome.Cytogenet Cell Genet. 2001;92(3-4):213-6. doi: 10.1159/000056905.
14 The tuberous sclerosis complex genes in tumor development.Cancer Invest. 2004;22(4):588-603. doi: 10.1081/cnv-200027144.
15 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.