Peutz-jeghers Syndrome malady

NIH Rare Diseases: Peutz-Jeghers syndrome(PJS) is an autosomal dominant genetic condition characterized by multiple benign polyps called hamartomas on the mucous lining in the gastrointestinal system. T hese polyps occur most often in the small intestine but also occur in the stomach and large intestine. Affected individuals also have dark skin discoloration, especially around the eyes, nostrils, mucous membranes of the mouth, perianal area and inside the mouth. Affected individuals have an increased risk for intestinal and other cancers. Most cases of PJS can be attributed to mutations in the STK11 gene.³⁰

MalaCards: Peutz-jeghers Syndrome, also known as PJS, is related to carney complex and gynecomastia. An important gene associated with Peutz-jeghers Syndrome is STK11 (serine/threonine kinase 11), and among its related pathways are Signal transduction_PTEN pathway and Translation Regulation activity of EIF4F. The compounds threonine and arginine have been mentioned in the context of this disorder. Affiliated tissues include small intestine, colon and liver, and related mouse phenotypes are endocrine/exocrine gland and respiratory system.

Genetics Home Reference: Peutz-Jeghers syndrome is characterized by the development of growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines), and a greatly increased risk of developing certain types of cancer.¹⁷

Wikipedia: Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal...⁴⁴ more...

OMIM: 175200

GeneReviews summary for pjs

Aliases & Descriptions:

peutz-jeghers syndrome 6 7 44 15 17 8 33 32 43 pjs 44 15 30 16 17 polyposis, hamartomatous intestinal 44 30 16 17 periorificial lentiginosis syndrome 44 30 17 polyps-and-spots syndrome 44 30 17 lentiginosis, perioral 44 30 17 polyposis, intestinal, ii 44 17 peutz jeghers syndrome 30 16 intestinal polyposis-cutaneous pigmentation syndrome 17 peutz-jeghers polyp of small intestine 6 peutz-jeghers small bowel hamartoma 6

colonic hamartomatous polyps 43 gastric peutz-jeghers polyp 6 colonic hamartomatous polyp 6 peutz jeghers colon polyp 6 peutz-jeghers polyposis 30 peutz jeghers polyp 6 multiple polyps 43 gastric polyp 43 hamartoma 43 lentigo 43

Diseases related to peutz-jeghers syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 354)

id	Related Disease	Score	Top Affiliating Genes
1	carney complex	34.0	CNC, STK11, PRKAR1A
2	gynecomastia	33.8	BRCA2, INHA, CYP19A1, STK11
3	sertoli cell tumor	33.1	INHA, CYP19A1, STK11, PRKAR1A
4	cowden disease	32.8	BRCA2, BMPR1A, PTEN, STK11
5	tuberous sclerosis	31.7	TSC1, TSC2
6	intussusception	31.3	APC, STK11, EPB41L5
7	breast cancer	31.2	BRCA2, TP53, PTEN, PTGS2, CYP19A1, CTNNB1
8	colorectal adenoma and carcinoma	30.8	APC, TP53, PTGS2, CTNNB1
9	bannayan-riley-ruvalcaba syndrome	30.6	CDKN3, PTEN
10	multiple endocrine neoplasia	30.4	CNC, BRCA2, VHL, UBC, APC, AKT2
11	von hippel-lindau disease	29.9	CNC, BRCA2, VHL, INHA, AKT2, TP53
12	sporadic breast cancer	29.6	BRCA2, CDKN3, TP53, TP73, PTEN, CYP19A1
13	gardner syndrome	29.5	APC, CTNNB1
14	juvenile polyposis syndrome	28.9	BMPR1A, SMAD4
15	mutyh-associated polyposis	28.2	MUTYH, APC, TP53, SMAD4
16	hepatic adenoma	28.0	APC, CTNNB1, STK11
17	neurofibromatosis	27.9	BRCA2, VHL, BLZF1, TSC1, TSC2
18	merkel cell carcinoma	26.7	TP53, TP73, PTEN, PTGS2, CTNNB1
19	hemangioma	26.4	VHL, CDKN3, TP53, PTEN, CTNNB1, EGFR
20	cutaneous malignant melanoma	26.3	BRCA2, MUTYH, TP53, CTNNB1, EGFR
21	basal cell carcinoma	25.8	APC, TP53, PTEN, PTGS2, ODC1, CTNNB1
22	pancreatic carcinoma	25.7	BRCA2, CDKN3, HSP90AA1, AKT2, TP53, TP73
23	seizures	25.5	MTOR, CDKN3, TP53, PTEN, CYP19A1, ODC1
24	adenoma	24.8	CNC, VHL, BMPR1A, MUC3A, MUTYH, UBC
25	polyposis	24.4	REEP6, BRCA2, VHL, BMPR1A, MUC3A, MUTYH
26	ischemia	24.3	VHL, BLZF1, MUTYH, UBC, CDKN3, TP53
27	gastric cancer	24.1	BRCA2, VHL, BMPR1A, BLZF1, MUTYH, MTOR
28	liver cancer	24.0	UBC, CDC37, CDKN3, APC, TP53, PTEN
29	leiomyoma	23.7	BRCA2, CDKN3, TP53, PTEN, PTGS2, CYP19A1
30	retinitis	23.5	VHL, USP16, BLZF1, UBC, MTOR, CDKN3
31	papilloma	23.4	BRCA2, UBC, CDKN3, TP53, TP73, PTEN
32	carcinoma	23.3	ZNF444, CNC, BRCA2, VHL, BMPR1A, BLZF1
33	colon cancer	22.9	REEP6, BRCA2, VHL, BMPR1A, MUC3A, MUTYH
34	cholangiocarcinoma	22.4	MUC3A, MUTYH, MTOR, CDKN3, APC, TP53
35	cerebritis	22.4	VHL, BLZF1, UBC, CDKN3, MARK3, MARK4
36	melanoma	22.2	CNC, BRCA2, BLZF1, MUTYH, UBC, MTOR
37	hypertension	21.8	VHL, BMPR1A, BLZF1, MTOR, CDKN3, INHA
38	adenocarcinoma	21.8	BRCA2, VHL, BMPR1A, BLZF1, MUC3A, MUTYH
39	pancreatitis	20.7	BRCA2, VHL, BMPR1A, BLZF1, MUC3A, MUTYH
40	hepatitis	19.2	VHL, BLZF1, UBC, MTOR, CDKN3, APC
41	neuronitis	19.0	BRCA2, BRSK1, VHL, BMPR1A, BLZF1, UBC
42	thyroiditis	18.5	CNC, VHL, BMPR1A, BLZF1, MUTYH, UBC
43	primary pigmented nodular adrenocortical disease	13.7	CNC, CYP19A1, CTNNB1, PRKAR1A
44	desmoid disease	13.7	APC, CTNNB1
45	megalencephaly	13.7	TSC1, STRADA, STK11
46	cystic kidney	13.7	VHL, TSC1, TSC2
47	polyhydramnios, megalencephaly, and symptomatic epilepsy	13.7	STRADA, STK11
48	adrenal adenoma	13.6	VHL, INHA, APC, CYP19A1, CTNNB1, PRKAR1A
49	thyroid adenoma	13.6	CNC, APC, PTEN, PRKAR1A
50	pancreatoblastoma	13.5	APC, CTNNB1, SMAD4

Clinical features from OMIM: 175200

Approved drugs:

Drug clinical trials:

Genetic tests related to peutz-jeghers syndrome:

id	Genetic test	Affiliating Genes
1	Peutz-jeghers Syndrome clinical/research	STK11

MalaCards organs/tissues related to peutz-jeghers syndrome:

²²

MGI Mouse Phenotypes related to peutz-jeghers syndrome:

²⁵ (show all 27)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland phenotype	MP:0005379	10.3	PRKAR1A, INHA, BMPR1A, BRCA2
2	respiratory system phenotype	MP:0005388	10.1	PRKAR1A, SMARCA4, BMPR1A
3	craniofacial phenotype	MP:0005382	9.8	PRKAR1A, STK11, TP73, BMPR1A
4	hematopoietic system phenotype	MP:0005397	9.2	PRKAR1A, STK11, TSC2, SMAD4, TP73, APC
5	limbs/digits/tail phenotype	MP:0005371	8.7	EGFR, SMARCA4, CTNNB1, BMPR1A, VHL, BRCA2
6	pigmentation phenotype	MP:0001186	8.4	PRKAR1A, EGFR, CTNNB1, CYP19A1, PTEN, TP53
7	reproductive system phenotype	MP:0005389	8.3	SMAD2, SMAD4, TSC1, STK11, PRKAR1A, PTGS2
8	liver/biliary system phenotype	MP:0005370	8.1	SMARCA4, EGFR, HIF1A, TSC2, SMAD2, CYP19A1
9	embryogenesis phenotype	MP:0005380	8.1	SMARCA4, EGFR, STK11, PRKAR1A, EPB41L5, CTNNB1
10	integument phenotype	MP:0010771	7.9	PRKCG, STK11, EGFR, SMARCA4, SMAD2, CTNNB1
11	normal phenotype	MP:0002873	7.7	SMAD2, SMAD4, HIF1A, TSC2, STK11, PRKCG
12	behavior/neurological phenotype	MP:0005386	7.6	SMAD2, SMAD4, TSC1, TSC2, STK11, PRKCG
13	no phenotypic analysis	MP:0003012	7.4	STK11, EGFR, SMAD2, CTNNB1, PTPRH, PTGS2
14	adipose tissue phenotype	MP:0005375	7.3	PRKAR1A, PRKAA2, EGFR, CYP19A1, PTGS2, PTEN
15	vision/eye phenotype	MP:0005391	6.9	STK11, HIF1A, EGFR, SMAD2, CTNNB1, PTGS2
16	renal/urinary system phenotype	MP:0005367	6.8	EGFR, HIF1A, TSC1, TSC2, STK11, PRKAA2
17	digestive/alimentary phenotype	MP:0005381	6.5	SMAD2, SMAD4, SMARCA4, EGFR, HIF1A, STK11
18	muscle phenotype	MP:0005369	6.3	SMAD4, SMARCA4, EGFR, HIF1A, TSC1, STK11
19	skeleton phenotype	MP:0005390	6.1	PTGS2, CYP19A1, CTNNB1, SMAD2, EGFR, HIF1A
20	cardiovascular system phenotype	MP:0005385	6.0	SMAD4, SMARCA4, EGFR, HIF1A, TSC1, TSC2
21	tumorigenesis	MP:0002006	5.9	BRCA2, SMAD2, SMAD4, SMARCA4, EGFR, HIF1A
22	mortality/aging	MP:0010768	5.9	SMARCA4, SMAD4, SMAD2, ODC1, EGFR, TSC1
23	homeostasis/metabolism phenotype	MP:0005376	5.2	SMARCA4, SMAD4, SMAD2, CTNNB1, EGFR, HIF1A
24	nervous system phenotype	MP:0003631	5.0	SMAD4, SMARCA4, EGFR, HIF1A, TSC1, TSC2
25	immune system phenotype	MP:0005387	4.9	CYP19A1, CTNNB1, SMAD2, SMAD4, SMARCA4, EGFR
26	growth/size phenotype	MP:0005378	4.5	EGFR, SMAD4, SMAD2, CTNNB1, CYP19A1, HIF1A
27	cellular phenotype	MP:0005384	3.9	ODC1, CTNNB1, SMAD2, SMAD4, SMARCA4, EGFR

Articles related to peutz-jeghers syndrome:

(show top 50)    (show all 96)

id	Title	Authors	Year	Affiliating Genes
1	Novel mutations in the STK11 gene in Thai patients wi th Peutz-Jeghers syndrome. (19908348)	Ausavarat S.... Shotelersuk V.	2009	STK11
2	mTOR and HIF-1alpha-mediated tumor metabolism in an L KB1 mouse model of Peutz-Jeghers syndrome. (19541609)	Shackelford D.B.... Shaw R.J.	2009	HIF1A
3	Expression and significance of interferon-inducible transmembrane protein-1 gene in Peutz-jeghers syndrome. (19304549)	Ma Y.M.... Xia O.D.	2009	IFITM1
4	A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome. (18495044)	Yoo J.H.... Choi J.R.	2008	STK11
5	Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates. (17924967)	de Leng W.W.... Offerhaus G.J.	2007	STK11, MARK1, MARK4
6	Sequence polymorphism of the promoter region of gene STK11 in patients with Peutz-Jeghers syndrome (17344591)	Yi X.... Shi X.L.	2007	STK11
7	Peutz-Jeghers syndrome and management recommendations. (16616343)	Giardiello F.M.... Trimbath J.D.	2006	STK11
8	LKB1: a sweet side to Peutz-Jeghers syndrome? (16530014)	Carling D.	2006	STK11, PRKAA2
9	Prepubertal gynecomastia in Peutz-Jeghers syndrome: incomplete penetrance in a familial case and management with an aromatase inhibitor. (16452534)	Lefevre H.... Carel J.C.	2006	CYP19A1, INHA
10	LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome. (16648371)	Volikos E.... Aaltonen L.A.	2006	STK11
11	A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Indian patients. (17010210)	Thakur N.... Chandak G.R.	2006	STK11
12	A novel STK11 germline mutation in two siblings with Peutz-Jeghers syndrome complicated by primary gastric cancer. (15617552)	Shinmura K.... Sugimura H.	2005	STK11
13	An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites. (15608654)	Hastings M.L.... Krainer A.R.	2005	STK11
14	Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in Peutz-Jeghers syndrome. (15756273)	Alhopuro P.... Launonen V.	2005	STK11, SMARCA4
15	Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome. (15774015)	Hearle N.C.... Houlston R.S.	2005	STK11
16	High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. (16287113)	Aretz S.... Friedl W.	2005	STK11
17	STRAD in Peutz-Jeghers syndrome and sporadic cancers. (16189157)	de Leng W.W.... Weterman M.A.	2005	STK11
18	Lack of STK11 gene expression in homozygous twins with Peutz-Jeghers syndrome. (15228227)	Tseng C.J.... Chu D.C.	2004	STK11
19	A novel germline mutation of the LKB1 gene in a patient with Peutz-Jeghers syndrome with early-onset gastric cancer. (15622488)	Takahashi M.... Ishioka C.	2004	STK11
20	Stability of the Peutz-Jeghers syndrome kinase LKB1 requires its binding to the molecular chaperones Hsp90/Cdc37. (14668798)	Nony P.... Billaud M.	2003	STK11, HSP90AA1, UBC
21	Overexpression of cyclooxygenase 2 in hamartomatous polyps of Peutz-Jeghers syndrome. (12650805)	McGarrity T.J.... Howett M.K.	2003	ODC1, PTGS2
22	Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients. (12552571)	Boudeau J.... Resta N.	2003	STK11
23	Restoration of silenced Peutz-Jeghers syndrome gene, LKB1, induces apoptosis in pancreatic carcinoma cells. (14511408)	Qanungo S.... Basu A.	2003	TP53, STK11, TP73
24	Genetic screening for Peutz-Jeghers syndrome. (12877386)	Ballhausen W.G.... GA1nther K.	2003	STK11
25	Peutz-Jeghers syndrome: genetic screening. (12934663)	Leggett B.A.... Barker M.	2003	STK11
26	Ovarian tumors associated with multiple endocrine neoplasias and related syndromes (Carney complex, Peutz-Jeghers syndrome, von Hippel-Lindau disease, Cowden's disease). (12144681)	Papageorgiou T.... Stratakis C.A.	2002	AKT2, PTEN, CNC
27	Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients. (12372054)	Scott R.J.... Spigelman A.D.	2002	STK11
28	Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform (STK11 c.597(insertion mark)598insIVS4). (11668633)	Abed A.A.... Ballhausen W.G.	2001	STK11
29	LIP1, a cytoplasmic protein functionally linked to the Peutz-Jeghers syndrome kinase LKB1. (11741830)	Smith D.P.... Ashworth A.	2001	STK11, SMAD4, BLZF1
30	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. (11435690)	Marneros A.G.... Olsen B.R.	2001	PTPRH
31	Patient with Peutz-Jeghers syndrome and liver metastases from an unknown primary tumor (10774296)	van der Werf G.... van Groeningen C.J.	2000	STK11
32	Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients. (10780518)	Yoon K.A.... Park J.G.	2000	STK11
33	Serum inhibin B concentration in a prepubertal boy with gynecomastia and Peutz-Jeghers syndrome. (10689645)	BergadA! I.... Campo S.	2000	CYP19A1
34	Genetics of Peutz-Jeghers syndrome, Carney complex and other familial lentiginoses. (11595829)	Stratakis C.A.	2000	STK11, CNC
35	No evidence of Peutz-Jeghers syndrome gene LKB1 involvement in left-sided colorectal carcinomas. (10676634)	Launonen V.... Aaltonen L.A.	2000	STK11
36	The molecular basis and clinical aspects of Peutz-Jeghers syndrome. (10379360)	Hemminki A.	1999	STK11
37	Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanoma. (10208439)	Guldberg P.... Zeuthen J.	1999	STK11
38	Peutz-Jeghers syndrome: molecular analysis of a three-generation kindred with a novel defect in the serine threonine kinase gene STK11. (9934767)	Trojan J.... Zeuzem S.	1999	STK11
39	Loss of cytoplasmic retention ability of mutant LKB1 found in Peutz-Jeghers syndrome patients. (10441497)	Nezu J.... Shimane M.	1999	STK11
40	Overexpression of epidermal growth factor receptor in Peutz-Jeghers syndrome. (10389685)	McGarrity T.J.... Billingsley M.L.	1999	EGFR
41	STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients. (10517250)	Jiang C.Y.... Bapat B.	1999	STK11
42	Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. (9837816)	Mehenni H.... Antonarakis S.E.	1998	STK11
43	Mutated serine-threonine kinase gene (STK11) is the cause of Peutz-Jeghers syndrome (9795419)	Trojan J.... Zeuzem S.	1998	STK11
44	Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. (9850045)	Gruber S.B.... Giardiello F.M.	1998	STK11
45	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. (9722953)	Kortschak R.D.... Jenne D.E.	1998	ARID3A
46	Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. (9425897)	Jenne D.E.... Zimmer M.	1998	STK11
47	A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. (9428765)	Hemminki A.... Aaltonen L.A.	1998	STK11
48	Ovarian mucinous tumor of gastric and intestinal type associated with Peutz-Jeghers syndrome: in situ hybridization study of apomucin gene transcripts (10051919)	Wacrenier A.... Gosselin B.	1998	MUC3A
49	Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. (8988175)	Hemminki A.... Aaltonen L.A.	1997	STK11
50	Peutz-Jeghers syndrome. (9429144)	Tomlinson I.P.... Houlston R.S.	1997	STK11

Genes related to peutz-jeghers syndrome according to GeneCards:

(show top 50)    (show all 56)

id	Symbol	Description	Score	GeneCards Section Context
1	STK11	serine/threonine kinase 11	11.1	Publications, Aliases & Descriptions, Orthologs, Summaries
2	CNC	Carney complex, multiple neoplasia and lentiginosis	11.0	Publications
3	INHA	inhibin, alpha	11.0	Publications
4	BLZF1	basic leucine zipper nuclear factor 1	11.0	Publications
5	TSC1	tuberous sclerosis 1	11.0	Publications
6	SMARCA4	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	11.0	Publications
7	PRKAR1A	protein kinase, cAMP-dependent, regulatory, type I, alpha	11.0
8	PRKAA2	protein kinase, AMP-activated, alpha 2 catalytic subunit	11.0	Publications
9	TSC2	tuberous sclerosis 2	11.0	Publications
10	PMS1	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	11.0
11	VHL	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	11.0
12	CYP19A1	cytochrome P450, family 19, subfamily A, polypeptide 1	11.0	Publications
13	APC	adenomatous polyposis coli	11.0	Publications
14	CTNNB1	catenin (cadherin-associated protein), beta 1, 88kDa	11.0	Publications
15	BRCA2	breast cancer 2, early onset	11.0
16	PTEN	phosphatase and tensin homolog	11.0	Publications
17	CDKN3	cyclin-dependent kinase inhibitor 3	11.0
18	C19orf24	chromosome 19 open reading frame 24	11.0
19	STK11IP	serine/threonine kinase 11 interacting protein	11.0	Publications
20	MIDN	midnolin	11.0	Disorders
21	IFITM1	interferon induced transmembrane protein 1	11.0	Publications
22	CYTH2	cytohesin 2	11.0	Publications
23	KLK10	kallikrein-related peptidase 10	11.0	Publications
24	REEP6	receptor accessory protein 6	11.0
25	WDR6	WD repeat domain 6	11.0	Disorders
26	ZNF444	zinc finger protein 444	11.0
27	ATP5D	ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit	11.0
28	PTPRH	protein tyrosine phosphatase, receptor type, H	11.0	Publications
29	CDC37	cell division cycle 37 homolog (S. cerevisiae)	11.0	Publications
30	BRSK1	BR serine/threonine kinase 1	11.0
31	USP16	ubiquitin specific peptidase 16	11.0
32	MARK4	MAP/microtubule affinity-regulating kinase 4	11.0	Publications
33	ARID3A	AT rich interactive domain 3A (BRIGHT-like)	11.0	Publications
34	MUC3A	mucin 3A, cell surface associated	11.0	Publications
35	STRADA	STE20-related kinase adaptor alpha	11.0
36	SBNO2	strawberry notch homolog 2 (Drosophila)	11.0
37	AKT2	v-akt murine thymoma viral oncogene homolog 2	11.0	Publications
38	MARK1	MAP/microtubule affinity-regulating kinase 1	11.0	Publications
39	PRKCG	protein kinase C, gamma	11.0	Publications
40	MARK3	MAP/microtubule affinity-regulating kinase 3	11.0	Publications
41	MUTYH	mutY homolog (E. coli)	11.0
42	CAB39	calcium binding protein 39	11.0	Disorders
43	ODC1	ornithine decarboxylase 1	11.0	Publications
44	CAB39L	calcium binding protein 39-like	11.0
45	EPB41L5	erythrocyte membrane protein band 4.1 like 5	11.0	Disorders
46	TP73	tumor protein p73	11.0	Publications
47	BMPR1A	bone morphogenetic protein receptor, type IA	11.0
48	SMAD2	SMAD family member 2	11.0	Publications
49	SMAD4	SMAD family member 4	11.0	Publications
50	HIF1A	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	11.0	Publications

Pathways related to peutz-jeghers syndrome according to GeneDecks:

(show top 50)    (show all 52)

id	Pathway	Score	Top Affiliating Genes
1	Signal transduction_PTEN pathway41	10.8	TSC2
2	Translation Regulation activity of EIF4F10	10.7	AKT2
3	Pancreatic cancer20	10.6	AKT2, BRCA2
4	Colorectal cancer20	10.6	SMAD2
5	Development Leptin signaling via PI3K-dependent pathway10	10.6	PRKAR1A, PRKAA2, STK11
6	Regulation of lipid metabolism Insulin signaling-generic cascades10	10.5	AKT2
7	Translation Insulin regulation of translation10	10.5	AKT2
8	Development_Leptin signaling via PI3K-dependent pathway41	10.4	PRKAR1A, PRKAA2, STK11, AKT2
9	AMPK Enzyme Complex Pathway36	10.3	PRKAR1A, PRKAA2, STK11, TSC2, TSC1, SMARCA4
10	Transcription Receptor-mediated HIF regulation10	10.2	TSC2, HIF1A, AKT2
11	PI3K / Akt Signaling3	10.2	TSC2, TSC1, PTEN, AKT2
12	PKB-mediated events38	10.1	STK11, STRADA, TSC1, CAB39, CAB39L
13	Glucose / Energy Metabolism3	10.0	PRKAA2, STK11, TSC2, PTEN, CAB39, MARK1
14	Adipocytokines & Insulin Signaling37	10.0	PRKAA2, PRKCG, MTOR
15	mTOR Pathway36	9.9	PRKAA2, PRKCG, STK11, TSC2, TSC1, HIF1A
16	Akt Signaling36	9.8	TSC2, TSC1, HSP90AA1, CDC37, BMPR1A
17	Development IGF-RI signaling10	9.8	TSC2, TSC1, PTEN, AKT2, MTOR
18	Development_VEGF signaling via VEGFR2 - generic cascades41	9.8	AKT2, PTGS2, CTNNB1, PRKCG
19	Development_IGF-1 receptor signaling41	9.8	TSC2, TSC1, PTEN, AKT2, MTOR
20	Regulation of lipid metabolism_Insulin signaling-generic cascades41	9.8	PRKAR1A, TSC2, AKT2, MTOR
21	Translation_Insulin regulation of translation41	9.8	TSC2, TSC1, AKT2, MTOR
22	Insulin signaling pathway20	9.7	PRKAR1A, PRKAA2, TSC2, TSC1, AKT2, MTOR
23	Translation Non-genomic (rapid) action of Androgen Receptor10	9.7	EGFR, CTNNB1, PTEN, AKT2
24	DNA Damage3	9.7	SMARCA4, TP73, TP53, MUTYH, BRCA2
25	Translational Control3	9.5	MTOR, SMARCA4, TSC1, TSC2
26	Adipocytokine signaling pathway20	9.5	MTOR, AKT2, STK11, PRKAA2
27	Transcription_Receptor-mediated HIF regulation41	9.5	TSC2, HIF1A, PTEN, AKT2, MTOR
28	BRCA1 Pathway36	9.4	BRCA2, UBC, TP53, SMARCA4
29	Cell Cycle / Checkpoint Control3	9.4	TP73, TP53, CDC37, MUTYH, BRSK1, BRCA2
30	p53 Signaling36	9.4	HIF1A, PTEN, TP53, UBC
31	DNA damage_Role of SUMO in p53 regulation41	9.3	TP53, AKT2, UBC
32	Wnt signaling pathway20	9.3	PRKCG, SMAD4, SMAD2, CTNNB1, TP53, APC
33	p53 signaling pathway20	9.2	TSC2, PTEN, TP73, TP53
34	Endometrial cancer20	9.1	EGFR, CTNNB1, PTEN, TP53, AKT2, APC
35	Translation _Regulation of EIF4F activity41	9.1	TSC2, TSC1, EGFR, AKT2, MTOR
36	Glioblastoma Multiforme36	9.1	TSC2, TSC1, EGFR, PTEN, TP53, AKT2
37	HIF1Alpha Pathway36	9.0	HIF1A, TP53, HSP90AA1, UBC, VHL
38	Non-small cell lung cancer20	9.0	PRKCG, EGFR, TP53, AKT2
39	Translation_Non-genomic (rapid) action of Androgen Receptor41	9.0	TSC2, EGFR, CTNNB1, PTEN, AKT2, MTOR
40	Development_Endothelin-1/EDNRA transactivation of EGFR41	8.9	TSC2, EGFR, AKT2, MTOR
41	Signal transduction_AKT signaling41	8.9	TSC2, TSC1, PTEN, TP53, AKT2, HSP90AA1
42	Development Endothelin-1/EDNRA transactivation of EGFR10	8.9	TSC2, EGFR, AKT2, MTOR
43	WNT Signaling36	8.9	PRKCG, SMARCA4, CTNNB1, PTGS2, TP53, APC
44	mTOR signaling pathway20	8.8	MTOR, PRKAA2, STK11, STRADA, TSC2, TSC1
45	Colorectal Cancer Metastasis36	8.7	PRKAR1A, EGFR, CTNNB1, PTGS2, TP53, APC
46	Signal transduction PTEN pathway10	8.5	TSC2, EGFR, CTNNB1, PTEN, TP53, AKT2
47	Glioma20	8.5	PRKCG, EGFR, PTEN, TP53, AKT2, MTOR
48	Molecular Mechanisms of Cancer36	8.2	PRKCG, STK11, TSC2, TSC1, HIF1A, EGFR
49	Prostate cancer20	8.2	EGFR, CTNNB1, PTEN, TP53, AKT2, HSP90AA1
50	Pathways in cancer20	7.3	PRKCG, HIF1A, EGFR, SMAD4, SMAD2, CTNNB1

Compounds related to peutz-jeghers syndrome according to GeneDecks:

(show top 50)    (show all 103)

id	Compound	Score	Top Affiliating Genes
1	threonine32	10.2	PRKCG, KLK10, CDC37, BMPR1A
2	arginine32	10.1	BLZF1, TP73, CYP19A1, SMAD4, SMARCA4
3	glucose32	10.0	PRKAR1A, STK11, TSC1, TSC2, VHL, APC
4	indole-3-carbinol32	9.7	ODC1, BRCA2, TP53, PTEN, CYP19A1, CTNNB1
5	h2o232	9.7	BLZF1, BRCA2, MUTYH, CDKN3, ODC1
6	ly29400232	9.6	TSC2, PTGS2, AKT2, CDKN3, VHL, SMAD2
7	sb 20358032 42	10.5	HSP90AA1, CTNNB1, SMAD2, HIF1A
8	bicalutamide32 42 9 9	12.5	EGFR, CTNNB1, CYP19A1, CDKN3, PTEN
9	5-aza-2deoxycytidine32	9.5	PMS1, APC, TP53, TP73, CTNNB1, STK11
10	crcs32	9.4	HIF1A, APC, SMAD4, CTNNB1, PTEN, TP53
11	glycogen32 18	10.4	APC, CDKN3, MTOR, VHL, AKT2, CTNNB1
12	mg 13232 42	10.1	BLZF1, HSP90AA1, PTEN, SMAD4, EGFR
13	sulindac32 9 9	11.0	CTNNB1, TP53, PTGS2, ODC1, APC
14	trastuzumab32 34 9 9	11.9	HSP90AA1, CYP19A1, HIF1A, PTEN, EGFR, CDKN3
15	dihydrotestosterone32 9 18 9	11.9	HIF1A, KLK10, CTNNB1, ODC1, CYP19A1, HSP90AA1
16	geldanamycin32 9 9	10.8	EGFR, CDC37, TP53, CTNNB1, HIF1A
17	wortmannin32 42	9.8	CTNNB1, TSC2, SMAD2, PRKAA2, PTEN, AKT2
18	leptomycin b32	8.7	HSP90AA1, TP53, CTNNB1, SMAD2, SMAD4, HIF1A
19	celecoxib32 42 34 9 18 9	13.6	CTNNB1, APC, PTGS2, CYP19A1, HIF1A, EGFR
20	taxane32	8.6	PTEN, MTOR, EGFR, CYP19A1, TP53
21	rapamycin32 42	9.5	HSP90AA1, EGFR, TSC2, STK11, PRKAA2, ODC1
22	steroid32	8.5	CYP19A1, PTEN, HSP90AA1, INHA, MTOR, BRCA2
23	gefitinib32 34 9 9	11.5	EGFR, CTNNB1, CYP19A1, PTGS2, PTEN, CDKN3
24	alanine32	8.4	PRKAA2, SMAD2, CTNNB1, PTEN, HSP90AA1, INHA
25	phosphoinositide32	8.3	CDKN3, CTNNB1, MTOR, APC, PTEN, TSC2
26	erlotinib32 34 9 9	11.3	PTEN, HSP90AA1, MTOR, PTGS2, EGFR, CDKN3
27	retinoic acid32 42 18	10.3	HIF1A, ODC1, CYP19A1, TP73, HSP90AA1, APC
28	resveratrol32 9 18 9	11.2	HIF1A, BRCA2, CTNNB1, MTOR, ODC1, PTGS2
29	oligonucleotide32	8.1	APC, PTEN, MUC3A, VHL, BRCA2, AKT2
30	n acetylcysteine32	8.1	TP53, ODC1, HIF1A, EGFR, SMAD2, CTNNB1
31	gemcitabine32 34 9 9	11.1	TP53, TP73, PTEN, PTGS2, CYP19A1, HIF1A
32	progesterone32 42 9 18 9	12.0	MUC3A, APC, HSP90AA1, TP53, TP73, CTNNB1
33	estrogen32	8.0	SMARCA4, HSP90AA1, PRKAA2, TSC2, HIF1A, EGFR
34	paclitaxel32 34 9 9	10.9	CTNNB1, PTEN, BRCA2, HSP90AA1, AKT2, EGFR
35	docetaxel32 34 9 9	10.9	HSP90AA1, EGFR, TP53, HIF1A, MTOR, BRCA2
36	adp32 18	8.7	AKT2, PTEN, EGFR, STK11, PRKCG, PRKAA2
37	paraffin32	7.7	STK11, PTEN, EGFR, SMAD4, CTNNB1, HIF1A
38	phosphatidylinositol32	7.7	PRKCG, PRKAA2, VHL, BRCA2, MTOR, CYTH2
39	tamoxifen32 34 9 9	10.6	HSP90AA1, AKT2, MTOR, HIF1A, CTNNB1, TP53
40	5fluorouracil32	7.5	MTOR, HIF1A, EGFR, CYP19A1, TP73, TP53
41	curcumin32	7.5	HSP90AA1, APC, CTNNB1, PTGS2, ODC1, EGFR
42	pd 98,05932	7.5	EGFR, TSC1, PRKAA2, CTNNB1, SMAD4, SMAD2
43	cycloheximide32	7.4	ODC1, CTNNB1, EGFR, HIF1A, PTEN, BLZF1
44	genistein32 9 18 9	10.4	HIF1A, EGFR, CTNNB1, CDKN3, HSP90AA1, PTEN
45	testosterone32 9 18 9	10.3	CYP19A1, INHA, TSC2, HIF1A, BRCA2, BLZF1
46	doxorubicin32 34 9 9	10.3	CTNNB1, ODC1, CYP19A1, HIF1A, PTEN, TP53
47	cisplatin32 34 9 9	9.7	CTNNB1, PTGS2, PTEN, TP73, TP53, AKT2
48	tyrosine32	6.2	AKT2, CDKN3, CDC37, SMAD4, MTOR, BLZF1
49	vegf32	6.1	CTNNB1, TP53, PTEN, PTGS2, SMAD2, SMAD4
50	serine32	5.4	STK11, TSC2, PRKAA2, HIF1A, EGFR, SMAD4

Cellular components related to peutz-jeghers syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	APC-Axin-1-beta-catenin complex	GO:034742	10.3	CTNNB1, APC
2	TSC1-TSC2 complex	GO:033596	10.2	TSC2, TSC1
3	activin responsive factor complex	GO:032444	9.5	SMAD4, SMAD2
4	protein complex	GO:043234	8.9	PRKAR1A, STK11, STRADA, TSC1, PTGS2, TP53
5	membrane	GO:016020	8.5	TSC2, TSC1, EGFR, CTNNB1, CYP19A1, CYTH2
6	cytosol	GO:005829	5.4	VHL, SMAD2, SMAD4, HIF1A, TSC1, TSC2
7	nucleus	GO:005634	5.3	PTPRH, CTNNB1, SMAD2, SMAD4, SMARCA4, EGFR
8	cytoplasm	GO:005737	4.7	EGFR, C19orf24, WDR6, SMAD4, SMAD2, HIF1A

Biological processes related to peutz-jeghers syndrome according to GeneDecks:

(show all 25)

id	Name	GO ID	Score	Top Affiliating Genes
1	canonical Wnt receptor signaling pathway	GO:060070	10.3	APC, PTEN, CTNNB1, STK11
2	negative regulation of TOR signaling cascade	GO:032007	10.2	HIF1A, TSC1, PRKAA2
3	protein heterooligomerization	GO:051291	10.2	PRKAA2, STK11, STRADA, TSC1, CAB39
4	regulation of fatty acid oxidation	GO:046320	10.0	PRKAA2, STK11, STRADA, CAB39, CAB39L
5	negative regulation of cell size	GO:045792	10.0	TSC1, PTEN, MTOR
6	kidney development	GO:001822	9.8	APC, TP73, ODC1, TSC1
7	endoderm development	GO:007492	9.7	EPB41L5, SMAD4, SMAD2
8	positive regulation of epithelial to mesenchymal transition	GO:010718	9.5	EPB41L5, SMAD4, SMAD2
9	response to DNA damage stimulus	GO:006974	9.5	STK11, TP73, TP53, APC, USP16, BRSK1
10	mesoderm formation	GO:001707	9.5	PRKAR1A, SMAD2, BMPR1A
11	DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis	GO:042771	9.5	TP73, TP53, BRCA2
12	fibroblast growth factor receptor signaling pathway	GO:008543	9.3	PRKAR1A, PRKCG, TSC2, PTEN, MTOR, UBC
13	digestive tract morphogenesis	GO:048546	9.2	TP73, EGFR, HIF1A
14	negative regulation of protein catabolic process	GO:042177	9.2	PRKCG, EGFR, SMAD4
15	nerve growth factor receptor signaling pathway	GO:048011	9.1	PRKAR1A, PRKCG, TSC2, PTEN, MTOR, UBC
16	insulin receptor signaling pathway	GO:008286	9.1	PRKAA2, STK11, STRADA, TSC2, TSC1, AKT2
17	in utero embryonic development	GO:001701	8.9	EPB41L5, SMAD4, SMAD2, CTNNB1, TP53, BMPR1A
18	protein phosphorylation	GO:006468	8.9	PRKAA2, PRKCG, STK11, STRADA, MARK4, MARK1
19	transforming growth factor beta receptor signaling pathway	GO:007179	8.8	SMAD4, SMAD2, TP53, UBC, BMPR1A
20	cell cycle arrest	GO:007050	8.7	CDKN3, PRKAA2, STK11, STRADA, TSC2, TSC1
21	epidermal growth factor receptor signaling pathway	GO:007173	8.5	PRKAR1A, PRKCG, TSC2, EGFR, PTEN, MTOR
22	negative regulation of cell proliferation	GO:008285	8.3	SMAD2, SMAD4, WDR6, TSC1, TSC2, STK11
23	cellular response to hypoxia	GO:071456	8.2	HIF1A, PTGS2, TP53, MTOR, UBC, VHL
24	positive regulation of transcription, DNA-dependent	GO:045893	8.2	HIF1A, SMARCA4, SMAD4, SMAD2, CTNNB1, TP73
25	positive regulation of transcription from RNA polymerase II promoter	GO:045944	8.1	HIF1A, SMARCA4, SMAD4, SMAD2, CTNNB1, TP73

Molecular functions related to peutz-jeghers syndrome according to GeneDecks:

(show all 13)

id	Name	GO ID	Score	Top Affiliating Genes
1	gamma-tubulin binding	GO:043015	10.2	MARK4, BRSK1, BRCA2
2	tau-protein kinase activity	GO:050321	10.1	MARK4, MARK1, BRSK1
3	protein kinase activator activity	GO:030295	10.0	STK11, STRADA, CAB39
4	I-SMAD binding	GO:070411	9.9	SMAD4, SMAD2, CTNNB1
5	R-SMAD binding	GO:070412	9.4	SMAD4, SMAD2, CTNNB1
6	ubiquitin protein ligase binding	GO:031625	9.1	BLZF1, TP53, SMAD2, HIF1A, PRKAR1A
7	chromatin binding	GO:003682	9.1	PRKAA2, SMARCA4, SMAD4, SMAD2, CTNNB1, TP53
8	protein kinase binding	GO:019901	8.9	STK11IP, HIF1A, PTEN, TP73, TP53, APC
9	transcription factor binding	GO:008134	8.7	HIF1A, SMAD2, CTNNB1, TP73, TP53, VHL
10	protein serine/threonine kinase activity	GO:004674	8.4	PRKAA2, STK11, STRADA, AKT2, CAB39, MARK4
11	enzyme binding	GO:019899	8.1	HIF1A, EGFR, CTNNB1, PTGS2, PTEN, TP53
12	ATP binding	GO:005524	6.4	SMARCA4, EGFR, STRADA, STK11, PRKCG, PRKAA2
13	protein binding	GO:005515	3.5	PRKAR1A, PTEN, PTPRH, CYTH2, CTNNB1, SMAD2