MCID: PLY056
MIFTS: 55

Polyposis, Juvenile Intestinal malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases categories

Aliases & Classifications for Polyposis, Juvenile Intestinal

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Aliases & Descriptions for Polyposis, Juvenile Intestinal:

Name: Polyposis, Juvenile Intestinal 49
Juvenile Polyposis Syndrome 10 21 45 22 23 47 12 51 24 65 67
Jps 45 22 23 51 67
Juvenile Intestinal Polyposis 45 23 51 67
Jip 45 23 51 67
Juvenile Polyposis Syndrome, Infantile Form 49 11
 
Juvenile Polyposis Coli 22 24
Polyposis Familial of Entire Gastrointestinal Tract 45
Juvenile Gastrointestinal Polyposis 51
Polyposis Juvenile Intestinal 45
Peutz-Jeghers Syndrome 65
Pji 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
juvenile polyposis syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,All ages,Childhood,Infancy


External Ids:

OMIM49 174900
Disease Ontology10 DOID:0050787
Orphanet51 2929
ICD10 via Orphanet28 D12.6

Summaries for Polyposis, Juvenile Intestinal

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NIH Rare Diseases:45 Juvenile polyposis syndrome (jps) is a disorder characterized by having a susceptibility to developing hamartomatous polyps in the gastrointestinal (gi) tract. a hamartomatous polyp is a benign (noncancerous) tumor-like malformation made up of an abnormal mixture of cells and tissues. in jps, these polyps can occur in the stomach, small intestine, colon, and rectum. the term "juvenile" refers to the type of polyp and not the age at which the polyps develop. most people with jps have some polyps by the age of age 20. the number of polyps in affected people vary. while some people may have only four or five polyps over their lifetime, others (even in the same family) may have more than 100. if the polyps are left untreated, they can result in bleeding and anemia. most juvenile polyps are benign, although over time they can become cancerous. in families with jps, the risk for developing a gi cancer ranges from 9% to 50%. most of this risk is due to colon cancer. the incidence of colorectal cancer in people with jps is 17%-22% by the age of 35 and as high as 68% by the age of 60. cancers of the stomach, upper gi tract, and pancreas have also been observed. to date, mutations in two genes are known to cause jps: bmpr1a and smad4.  management of jps includes routine colonoscopy with removal of any polyps to reduce the risk of bleeding, intestinal obstruction, and colon cancer. when the number of polyps is large, removal of all or part of the colon or stomach may become needed. additional screening can include upper endoscopy, complete blood count, and monitoring for symptoms such as rectal bleeding and/or anemia abdominal pain, constipation, diarrhea, or change in stool size, shape, and/or color. last updated: 5/11/2015

MalaCards based summary: Polyposis, Juvenile Intestinal, also known as juvenile polyposis syndrome, is related to bannayan-riley-ruvalcaba syndrome and generalized juvenile polyposis/juvenile polyposis coli, and has symptoms including malabsorption, gastrointestinal hemorrhage and intestinal polyposis. An important gene associated with Polyposis, Juvenile Intestinal is SMAD4 (SMAD Family Member 4), and among its related pathways are ALK2 signaling events and Signaling by BMP. Affiliated tissues include colon, small intestine and pancreas, and related mouse phenotypes are digestive/alimentary and liver/biliary system.

Disease Ontology:10 An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum.

Genetics Home Reference:23 Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps. People with juvenile polyposis syndrome typically develop polyps before age 20; however, in the name of this condition "juvenile" refers to the characteristics of the tissues that make up the polyp, not the age of the affected individual. These growths occur in the gastrointestinal tract, typically in the large intestine (colon). The number of polyps varies from only a few to hundreds, even among affected members of the same family. Polyps may cause gastrointestinal bleeding, a shortage of red blood cells (anemia), abdominal pain, and diarrhea. Approximately 15 percent of people with juvenile polyposis syndrome have other abnormalities, such as a twisting of the intestines (intestinal malrotation), heart or brain abnormalities, an opening in the roof of the mouth (cleft palate), extra fingers or toes (polydactyly), and abnormalities of the genitalia or urinary tract.

OMIM:49 Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of... (174900) more...

UniProtKB/Swiss-Prot:67 Juvenile polyposis syndrome: Autosomal dominant gastrointestinal hamartomatous polyposis syndrome in which patients are at risk for developing gastrointestinal cancers. The lesions are typified by a smooth histological appearance, predominant stroma, cystic spaces and lack of a smooth muscle core. Multiple juvenile polyps usually occur in a number of Mendelian disorders. Sometimes, these polyps occur without associated features as in JPS; here, polyps tend to occur in the large bowel and are associated with an increased risk of colon and other gastrointestinal cancers.

GeneReviews summary for jps

Related Diseases for Polyposis, Juvenile Intestinal

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Diseases related to Polyposis, Juvenile Intestinal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1bannayan-riley-ruvalcaba syndrome30.1BMPR1A, MINPP1, PTEN, SMAD4
2generalized juvenile polyposis/juvenile polyposis coli10.5
3hereditary hemorrhagic telangiectasia10.4
4esophagitis10.3
5juvenile overlap myositis10.3BMPR1A, SMAD4
6braf-related cardiofaciocutaneous syndrome10.3BMPR1A, SMAD4
7hereditary spherocytosis10.3
8protein r deficiency10.2BMPR1A, SMAD4
9foix-alajouanine syndrome10.2BMPR1A, PTEN
10pancreatic islet cell tumors10.2SMAD4, STK11
11arthritis10.2
12joint disorders10.2
13septic arthritis10.2
14arthropathy10.2
15infiltrating bladder urothelial carcinoma sarcomatoid variant10.2BMPR1A, PTEN
16peutz-jeghers syndrome10.2
17cowden syndrome 610.2BMPR1A, PTEN
18cronkhite-canada syndrome10.2
19cataract - intellectual disability - hypogonadism10.2APC, MUTYH
20atypical mole syndrome10.2APC, MUTYH
21familial congenital fourth cranial nerve palsy10.2APC, MUTYH
22colorectal cancer10.1
23pancreatic cancer10.1
24juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.1
25gastric cancer10.1
26achalasia10.1
27protein-losing enteropathy10.1
28adenocarcinoma10.1
29aortic disease10.1
30prosthetic joint infection10.1
31ruvalcaba syndrome10.1
32juvenile polyposis of infancy10.1
33small intestine carcinoid neuroendocrine tumor10.1APC, SMAD4
34hereditary congenital ptosis10.1APC, MUTYH
35non-gestational choriocarcinoma10.1APC, SMAD4, STK11
36gastric cancer, somatic10.1APC, MUTYH
37nasopharyngeal carcinoma10.1
38nasopharyngitis10.1
39myh9-related disorders10.1APC, MUTYH, SMAD4
40parkinson disease, juvenile, type 210.1
41rem sleep behavior disorder10.1
42biliary dyskinesia10.1
43lynch syndrome10.1
44reactive arthritis10.1
45primary bacterial infectious disease10.1
46restless legs syndrome10.1APC, MUTYH, SMAD4
47gastrointestinal system cancer10.0APC, MUTYH
48adenomyoma of uterine corpus10.0APC, MUTYH, SMAD4
49deep leiomyoma10.0BMPR1A, PTEN, SMAD4, STK11
50colonic disease10.0APC, MUTYH

Graphical network of the top 20 diseases related to Polyposis, Juvenile Intestinal:



Diseases related to polyposis, juvenile intestinal

Symptoms for Polyposis, Juvenile Intestinal

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Symptoms by clinical synopsis from OMIM:

174900

Clinical features from OMIM:

174900

Symptoms:

 51 (show all 28)
  • intestinal/colonic anomaly
  • polyposis of the bowel/colon/intestine
  • anus/rectum anomalies
  • malabsorption/chronic diarrhea/steatorrhea
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • autosomal dominant inheritance
  • anaemia
  • colon neoplasm/tumor/carcinoma/cancer
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • hypertelorism
  • polydactyly of toes
  • telangiectasiae of the skin
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • stomach/gastric anomaly
  • intestinal/bowel fistulae
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • tetralogy of fallot/trilogy of fallot
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • atrial septal defect/interauricular communication
  • patent ductus arteriosus
  • lymphedema
  • renal/kidney anomalies
  • uterine/uterus/fallopian tubes anomalies
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • communicating hydrocephaly
  • anomalies of bones/skeletal anomalies
  • pancreatic/pancreas neoplasm/tumor/carcinoma/cancer
  • failure to thrive/difficulties for feeding in infancy/growth delay

HPO human phenotypes related to Polyposis, Juvenile Intestinal:

(show all 36)
id Description Frequency HPO Source Accession
1 malabsorption hallmark (90%) HP:0002024
2 gastrointestinal hemorrhage hallmark (90%) HP:0002239
3 intestinal polyposis hallmark (90%) HP:0200008
4 anemia common (75%) HP:0001903
5 diarrhea common (75%) HP:0002014
6 abdominal pain common (75%) HP:0002027
7 multiple gastric polyps common (75%) HP:0004394
8 anemia typical (50%) HP:0001903
9 neoplasm of the colon typical (50%) HP:0100273
10 failure to thrive frequent (33%) HP:0001508
11 colon cancer 20% HP:0003003
12 clubbing occasional (7.5%) HP:0001217
13 rectal prolapse occasional (7.5%) HP:0002035
14 hematochezia occasional (7.5%) HP:0002573
15 intussusception occasional (7.5%) HP:0002576
16 duodenal adenocarcinoma occasional (7.5%) HP:0006771
17 abnormality of female internal genitalia occasional (7.5%) HP:0000008
18 cryptorchidism occasional (7.5%) HP:0000028
19 abnormality of the kidney occasional (7.5%) HP:0000077
20 macrocephaly occasional (7.5%) HP:0000256
21 hypertelorism occasional (7.5%) HP:0000316
22 lymphedema occasional (7.5%) HP:0001004
23 communicating hydrocephalus occasional (7.5%) HP:0001334
24 atria septal defect occasional (7.5%) HP:0001631
25 tetralogy of fallot occasional (7.5%) HP:0001636
26 patent ductus arteriosus occasional (7.5%) HP:0001643
27 abnormality of the aorta occasional (7.5%) HP:0001679
28 foot polydactyly occasional (7.5%) HP:0001829
29 abnormality of the stomach occasional (7.5%) HP:0002577
30 neoplasm of the pancreas occasional (7.5%) HP:0002894
31 abnormality of the pulmonary artery occasional (7.5%) HP:0004414
32 teleangiectasia of the skin occasional (7.5%) HP:0100585
33 intestinal fistula occasional (7.5%) HP:0100819
34 autosomal dominant inheritance HP:0000006
35 hypokalemia HP:0002900
36 hypoalbuminemia HP:0003073

Drugs & Therapeutics for Polyposis, Juvenile Intestinal

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Drugs for Polyposis, Juvenile Intestinal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Secretinapproved, investigationalPhase 1, Phase 229108153-74-8
Synonyms:
108153-74-8
1393-25-5
67307-60-2 (citrate (salt))
9002-77-1
EINECS 215-733-3
Hormone of the duodenal mucosa that activates pancreatic secretion and lowers the blood sugar level
Human secretin
I06-1828
L-Histidyl-L-seryl-L-alpha-aspartylglycyl-L-threonyl-L-phenylalanyl-L-threonyl-L-seryl-L-alpha-glutamyl-L-leucyl-L-seryl-L-arginyl-L-leucyl-L-arginyl-L-alpha-aspartyl-L-seryl-L-alanyl-L-arginyl-L-leucyl-L-glutaminyl-L-arginyl-L-leucyl-L-leucyl-L-glutaminylglycyl-L-leucyl-L-valinamide
L-Histidyl-L-seryl-L-alpha-aspartylglycyl-L-threonyl-L-phenylalanyl-L-threonyl-L-seryl-L-alpha-glutamyl-L-leucyl-L-seryl-L-arginyl-L-leucyl-L-arginyl-L-alpha-glutamylglycyl-L-alanyl-L-arginyl-L-leucyl-L-glutaminyl-L-arginyl-L-leucyl-L-leucyl-L-glutaminylglycyl-L-leucyl-L-valinamide
LS-144747
RG 1068
SECREFLO
SECRETIN
SECRETIN-FERRING
 
SecreFlow
Secrepan
Secretin (human)
Secretin (porcine)
Secretin [INN:BAN:DCF:JAN]
Secretin-Kabi
Secretina
Secretina [INN-Spanish]
Secretine
Secretine [INN-French]
Secretinum
Secretinum [INN-Latin]
Secretolin
UNII-88C55N56UU
UNII-A0426J905J
Vitrum
2
PancrelipaseapprovedPhase 1, Phase 283953608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
3
Sirolimusapproved, investigationalPhase 2174253123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
4
EverolimusapprovedPhase 21742159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
Afinitor Disperz
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
VOTUBIA
Zortress
everolimus
5
Miconazoleapproved, investigationalPhase 2291222916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
Desenex
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Makesense
Micantin (nitrate)
Micatin
 
Miconasil Nitrate
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
6pancreatinPhase 1, Phase 2839
7
Epinephrineapproved76851-43-45816
Synonyms:
(-)-(R)-Epinephrine
(-)-3,4-Dihydroxy-a-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-Dihydroxy-alpha-((methylamino)methyl)benzyl alcohol
(-)-3,4-Dihydroxy-alpha-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-dihydroxy-a-[(methylamino)methyl]-Benzyl alcohol
(-)-3,4-dihydroxy-alpha-[(methylamino)methyl]-Benzyl alcohol
(-)-Adrenalin
(-)-Adrenaline
(-)-Epinephrine
(-)-R-Epinephrine
(R)-(-)-Adnephrine
(R)-(-)-Adrenaline
(R)-(-)-Epinephrine
(R)-(-)-Epirenamine
(R)-(−)-adrenaline
(R)-4-[1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
(R)-4-[1-hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
(R)-Adrenaline
(R)-Epinephrine
(−)-adrenaline
02252_FLUKA
1-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
1-Adrenalin
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4-(1-Hydroxy-2-(methylamino)ethyl)-1,2-benzenediol
4-(1-hydroxy-2-methylamino-ethyl)benzene-1,2-diol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
4-[(1R)-1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diol
51-43-4
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l-Methylaminoethanolcatechol
levoepinephrine
nchembio747-comp9
8Racepinephrine768
9Epinephryl borate768

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Pilot Study of mTOR Inhibitor Therapy in Peutz-Jeghers SyndromeTerminatedNCT00811590Phase 2
2Secretin (ChiRhoStim) Pancreas Perfusion for Pancreatic AdenocarcinomaTerminatedNCT00587132Phase 1, Phase 2
3Study of Everolimus in the Treatment of Advanced Malignancies in Patients With Peutz-Jeghers SyndromeWithdrawnNCT01178151Phase 2
4Cancer of the Pancreas Screening Study (CAPS 3)CompletedNCT00438906
5Hereditary Colorectal and Associated Tumor Registry StudyRecruitingNCT00633607
6The Cancer of the Pancreas Screening-5 CAPS5)StudyRecruitingNCT02000089
7Pancreatic Cancer Early Detection ProgramRecruitingNCT02206360
8Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney ComplexRecruitingNCT00001452
9French Digestive Polyposis Cohorte Family Adenomatous Polyposis With APC and MYH Gene Mutations , Cowden's Disease With PTEN Gene Mutation, Peutz Jeghers Disease With STK 11 Gene Mutation ,juvénil Polyposis With SMAD 4 Gene Mutation , Serrated and HyperplRecruitingNCT01987518
10Genetics of EGFR (Epidermal Growth Factor Receptor) Mutation StudyRecruitingNCT01838577
11Pancreatic Cancer Screening of High-Risk Individuals in ArkansasRecruitingNCT02309632
12Screening for Early Pancreatic Neoplasia (Cancer of the Pancreas Screening or CAPS4 Study)Active, not recruitingNCT00714701
13Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC)Active, not recruitingNCT00668291

Search NIH Clinical Center for Polyposis, Juvenile Intestinal

Genetic Tests for Polyposis, Juvenile Intestinal

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Genetic tests related to Polyposis, Juvenile Intestinal:

id Genetic test Affiliating Genes
1 Juvenile Polyposis Syndrome22 24 SMAD4
2 Juvenile Polyposis Coli24

Anatomical Context for Polyposis, Juvenile Intestinal

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MalaCards organs/tissues related to Polyposis, Juvenile Intestinal:

33
Colon, Small intestine, Pancreas, Heart, Brain, Smooth muscle, Skin

Animal Models for Polyposis, Juvenile Intestinal or affiliated genes

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MGI Mouse Phenotypes related to Polyposis, Juvenile Intestinal:

38 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.7APC, PTEN, SMAD4, STK11, TGFB1
2MP:00053708.7APC, PTEN, SMAD4, STK11, TGFB1
3MP:00053678.7APC, PTEN, SMAD4, STK11, TGFB1
4MP:00053888.3BMPR1A, PTEN, SMAD9, STK11, TGFB1
5MP:00107718.3APC, BMPR1A, PTEN, SMAD4, STK11, TGFB1
6MP:00028738.2APC, BMPR1A, MINPP1, PTEN, SMAD4, SMAD9
7MP:00053828.2APC, BMPR1A, PTEN, SMAD9, STK11, TGFB1
8MP:00053798.0APC, BMPR1A, PTEN, SMAD4, STK11, TGFB1
9MP:00053807.8APC, BMPR1A, PTEN, SMAD4, SMAD9, STK11
10MP:00053857.8APC, BMPR1A, PTEN, SMAD4, SMAD9, STK11
11MP:00053847.5APC, BMPR1A, MUTYH, PTEN, SMAD4, STK11
12MP:00053977.4APC, BMPR1A, PTEN, SMAD4, STK11, TGFB1
13MP:00053697.3APC, BMPR1A, JPH1, PTEN, SMAD4, SMAD9
14MP:00053787.2APC, BMPR1A, PTEN, SMAD4, SMAD9, STK11
15MP:00053767.2APC, BMPR1A, MUTYH, PTEN, SMAD4, STK11
16MP:00036317.1APC, BMPR1A, MUTYH, PTEN, SMAD4, SMAD9
17MP:00053897.1APC, BMPR1A, PTEN, SMAD4, SMAD9, STK11
18MP:00053867.1APC, BMPR1A, JPH1, PTEN, SMAD4, SMAD9
19MP:00053876.9APC, BMPR1A, PTEN, SMAD4, SMAD9, STK11
20MP:00020066.7APC, BMPR1A, MUTYH, PTEN, SMAD4, SMAD9
21MP:00107686.3APC, BMPR1A, JPH1, MUTYH, PTEN, SMAD4

Publications for Polyposis, Juvenile Intestinal

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Variations for Polyposis, Juvenile Intestinal

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UniProtKB/Swiss-Prot genetic disease variations for Polyposis, Juvenile Intestinal:

67 (show all 11)
id Symbol AA change Variation ID SNP ID
1BMPR1Ap.Cys124ArgVAR_015533
2BMPR1Ap.Ala338AspVAR_015534
3BMPR1Ap.Cys376TyrVAR_015535
4BMPR1Ap.Tyr62AspVAR_022828
5BMPR1Ap.Cys82TyrVAR_022829
6BMPR1Ap.Cys130ArgVAR_022830
7BMPR1Ap.Arg443CysVAR_022831rs35619497
8BMPR1Ap.Met470ThrVAR_022832
9SMAD4p.Gly352ArgVAR_019571rs121912581
10SMAD4p.Arg361CysVAR_019572rs80338963
11SMAD4p.Glu330GlyVAR_022833rs281875324

Clinvar genetic disease variations for Polyposis, Juvenile Intestinal:

5 (show all 120)
id Gene Variation Type Significance SNP ID Assembly Location
1BMPR1ANM_004329.2(BMPR1A): c.115_116insA (p.Ser39Tyrfs)insertionLikely pathogenicrs587783038GRCh38Chr 10, 86890109: 86890110
2SMAD4NM_005359.5(SMAD4): c.1547dupA (p.Ser517Glufs)duplicationPathogenicrs587783060GRCh38Chr 18, 51078355: 51078355
3STK11NM_000455.4(STK11): c.921-2A> Tsingle nucleotide variantPathogenicrs727504172GRCh37Chr 19, 1222982: 1222982
4STK11NM_000455.4(STK11): c.988dupG (p.Asp330Glyfs)duplicationPathogenicrs786200991GRCh37Chr 19, 1223051: 1223051
5SMAD4NM_005359.5(SMAD4)insertionPathogenicrs786204125GRCh38Chr 18, 51076682: 51076683
6BMPR1ANM_004329.2(BMPR1A): c.243_247delTTGCT (p.Phe83Hisfs)deletionPathogenicrs786204187GRCh37Chr 10, 88651896: 88651900
7STK11NM_000455.4(STK11): c.844dupC (p.Leu282Profs)duplicationPathogenicrs786205864GRCh38Chr 19, 1221322: 1221322
8STK11NM_000455.4(STK11): c.842delC (p.Pro281Argfs)deletionPathogenicrs121913321GRCh38Chr 19, 1221320: 1221320
9SMAD4NM_005359.5(SMAD4): c.1244_1247delACAG (p.Asp415Glufs)deletionPathogenicrs80338965GRCh37Chr 18, 48593493: 48593496
10STK11NM_000455.4(STK11): c.719C> A (p.Ser240Ter)single nucleotide variantPathogenicrs730881976GRCh37Chr 19, 1220701: 1220701
11SMAD4NM_005359.5(SMAD4): c.(?_-1)_(*1_?)deldeletionPathogenic
12SMAD4NM_005359.5(SMAD4): c.1142T> A (p.Leu381Ter)single nucleotide variantPathogenicGRCh37Chr 18, 48593391: 48593391
13SMAD4NM_005359.5(SMAD4): c.(?_-17093)_(1659_?)deldeletionPathogenicGRCh38Chr 18, 51013658: 51078467
14SMAD4NM_005359.5(SMAD4): c.302G> A (p.Trp101Ter)single nucleotide variantPathogenicrs377767323GRCh37Chr 18, 48575108: 48575108
15SMAD4NM_005359.5(SMAD4): c.373_374insAT (p.Ser125Asnfs)insertionPathogenicrs377767324GRCh37Chr 18, 48575179: 48575180
16SMAD4NM_005359.5(SMAD4): c.375_381dupTGTCTGT (p.Val128Cysfs)duplicationPathogenicrs377767325GRCh37Chr 18, 48575181: 48575187
17SMAD4NM_005359.5(SMAD4): c.403C> T (p.Arg135Ter)single nucleotide variantPathogenicrs377767326GRCh37Chr 18, 48575209: 48575209
18SMAD4NM_005359.5(SMAD4): c.425-6A> Gsingle nucleotide variantPathogenicrs377767327GRCh37Chr 18, 48575659: 48575659
19SMAD4NM_005359.5(SMAD4): c.430_431delTC (p.Ser144Argfs)deletionPathogenicrs377767328GRCh37Chr 18, 48575670: 48575671
20SMAD4NM_005359.5(SMAD4): c.437T> A (p.Leu146Ter)single nucleotide variantPathogenicrs377767329GRCh37Chr 18, 48575677: 48575677
21SMAD4NM_005359.5(SMAD4): c.516_527delGTCCACTGAAGG (p.Ser173_Gly176del)deletionPathogenicrs377767330GRCh37Chr 18, 48581212: 48581223
22SMAD4NM_005359.5(SMAD4): c.533C> G (p.Ser178Ter)single nucleotide variantPathogenicrs377767331GRCh37Chr 18, 48581229: 48581229
23SMAD4NM_005359.5(SMAD4): c.538C> T (p.Gln180Ter)single nucleotide variantPathogenicrs377767332GRCh37Chr 18, 48581234: 48581234
24SMAD4NM_005359.5(SMAD4): c.608delC (p.Pro203Hisfs)deletionPathogenicrs377767333GRCh37Chr 18, 48581304: 48581304
25SMAD4NM_005359.5(SMAD4): c.668-?_1659+?deldeletionPathogenicGRCh37Chr 18, 48584495: 48604837
26SMAD4NM_005359.5(SMAD4): c.692dupG (p.Ser232Glnfs)duplicationPathogenicrs377767334GRCh37Chr 18, 48584519: 48584519
27SMAD4NM_005359.5(SMAD4): c.729_730insCCGC (p.Gln245Profs)insertionPathogenicrs377767335GRCh37Chr 18, 48584556: 48584557
28SMAD4NM_005359.5(SMAD4): c.788-?_1659+?deldeletionPathogenicGRCh37Chr 18, 48584710: 48604837
29SMAD4NM_005359.5(SMAD4): c.829_830delAC (p.Pro278Terfs)deletionPathogenicrs377767336GRCh37Chr 18, 48584751: 48584752
30SMAD4NM_005359.5(SMAD4): c.831_832delAC (p.Pro278Terfs)deletionPathogenicrs377767337GRCh37Chr 18, 48584753: 48584754
31SMAD4NM_005359.5(SMAD4): c.925_928dupGCAT (p.Phe310Cysfs)duplicationPathogenicrs377767338GRCh37Chr 18, 48586256: 48586259
32SMAD4NM_005359.5(SMAD4): c.970T> C (p.Cys324Arg)single nucleotide variantPathogenicrs377767339GRCh37Chr 18, 48591807: 48591807
33SMAD4NM_005359.5(SMAD4): c.971delG (p.Cys324Phefs)deletionPathogenicrs377767340GRCh37Chr 18, 48591808: 48591808
34SMAD4NM_005359.5(SMAD4): c.982dupT (p.Tyr328Leufs)duplicationPathogenicrs377767341GRCh37Chr 18, 48591819: 48591819
35SMAD4NM_005359.5(SMAD4): c.1081C> A (p.Arg361Ser)single nucleotide variantPathogenicrs80338963GRCh37Chr 18, 48591918: 48591918
36SMAD4NM_005359.5(SMAD4): c.989A> G (p.Glu330Gly)single nucleotide variantLikely pathogenic, Pathogenicrs281875324GRCh37Chr 18, 48591826: 48591826
37SMAD4NM_005359.5(SMAD4): c.1037delC (p.Pro346Leufs)deletionPathogenicrs377767343GRCh37Chr 18, 48591874: 48591874
38SMAD4NM_005359.5(SMAD4): c.1042_1043delGT (p.Val348Tyrfs)deletionPathogenicrs377767344GRCh37Chr 18, 48591879: 48591880
39SMAD4NM_005359.5(SMAD4): c.1055G> A (p.Gly352Glu)single nucleotide variantPathogenicrs377767345GRCh37Chr 18, 48591892: 48591892
40SMAD4NM_005359.5(SMAD4): c.1058A> C (p.Tyr353Ser)single nucleotide variantPathogenicrs377767346GRCh37Chr 18, 48591895: 48591895
41SMAD4NM_005359.5(SMAD4): c.1082G> T (p.Arg361Leu)single nucleotide variantPathogenicrs377767347GRCh37Chr 18, 48591919: 48591919
42SMAD4NM_005359.5(SMAD4): c.1087T> C (p.Cys363Arg)single nucleotide variantPathogenicrs377767348GRCh37Chr 18, 48591924: 48591924
43SMAD4NM_005359.5(SMAD4): c.1088_1090delGTT (p.Cys363del)deletionPathogenicrs377767349GRCh37Chr 18, 48591925: 48591927
44SMAD4NM_005359.5(SMAD4): c.1102_1103delTC (p.Ser368Glnfs)deletionPathogenicrs377767351GRCh37Chr 18, 48591939: 48591940
45SMAD4NM_005359.5(SMAD4): c.1113delC (p.His371Glnfs)deletionPathogenicrs377767352GRCh37Chr 18, 48591950: 48591950
46SMAD4NM_005359.5(SMAD4): c.1139+1G> Asingle nucleotide variantPathogenicrs377767354GRCh37Chr 18, 48591977: 48591977
47SMAD4NM_005359.5(SMAD4): c.1148T> A (p.Ile383Lys)single nucleotide variantPathogenicrs377767355GRCh37Chr 18, 48593397: 48593397
48SMAD4NM_005359.5(SMAD4): c.1162C> T (p.Gln388Ter)single nucleotide variantPathogenicrs80338964GRCh37Chr 18, 48593411: 48593411
49SMAD4NM_005359.5(SMAD4): c.1168G> A (p.Glu390Lys)single nucleotide variantPathogenicrs377767356GRCh37Chr 18, 48593417: 48593417
50SMAD4NM_005359.5(SMAD4): c.1193G> A (p.Trp398Ter)single nucleotide variantPathogenicrs377767357GRCh37Chr 18, 48593442: 48593442
51SMAD4NM_005359.5(SMAD4): c.1236C> G (p.Tyr412Ter)single nucleotide variantPathogenicrs121912577GRCh37Chr 18, 48593485: 48593485
52SMAD4NM_005359.5(SMAD4): c.1242delA (p.Asp415Thrfs)deletionPathogenicrs377767358GRCh37Chr 18, 48593491: 48593491
53SMAD4NM_005359.5(SMAD4): c.1268delG (p.Gly423Glufs)deletionPathogenicrs377767359GRCh37Chr 18, 48593517: 48593517
54SMAD4NM_005359.5(SMAD4): c.1333C> T (p.Arg445Ter)single nucleotide variantPathogenicrs377767360GRCh37Chr 18, 48603032: 48603032
55SMAD4NM_005359.5(SMAD4): c.1342C> T (p.Gln448Ter)single nucleotide variantPathogenicrs377767361GRCh37Chr 18, 48603041: 48603041
56SMAD4NM_005359.5(SMAD4): c.1343_1365del23 (p.Gln448Argfs)deletionPathogenicrs377767362GRCh37Chr 18, 48603042: 48603064
57SMAD4NM_005359.5(SMAD4): c.1361_1364delCACA (p.Ala454Glufs)deletionPathogenicrs377767363GRCh37Chr 18, 48603060: 48603063
58SMAD4NM_005359.5(SMAD4): c.1409_1410insCCCT (p.Gly471Profs)insertionPathogenicrs377767364GRCh37Chr 18, 48603108: 48603109
59SMAD4NM_005359.5(SMAD4): c.1411_1435del25 (p.Gly471Leufs)deletionPathogenicrs377767365GRCh37Chr 18, 48603110: 48603134
60SMAD4NM_005359.5(SMAD4): c.1421delC (p.Ser474Terfs)deletionPathogenicrs377767366GRCh37Chr 18, 48603120: 48603120
61SMAD4NM_005359.5(SMAD4): c.1472G> T (p.Gly491Val)single nucleotide variantPathogenicrs377767367GRCh37Chr 18, 48604650: 48604650
62SMAD4NM_005359.5(SMAD4): c.1478A> C (p.Asp493Ala)single nucleotide variantPathogenicrs377767368GRCh37Chr 18, 48604656: 48604656
63SMAD4NM_005359.5(SMAD4): c.1525T> A (p.Trp509Arg)single nucleotide variantPathogenicrs377767369GRCh37Chr 18, 48604703: 48604703
64SMAD4NM_005359.5(SMAD4): c.1527G> A (p.Trp509Ter)single nucleotide variantPathogenicrs377767370GRCh37Chr 18, 48604705: 48604705
65SMAD4NM_005359.5(SMAD4): c.1529G> T (p.Gly510Val)single nucleotide variantPathogenicrs377767371GRCh37Chr 18, 48604707: 48604707
66SMAD4NM_005359.5(SMAD4): c.1544delG (p.Arg515Asnfs)deletionPathogenicrs377767372GRCh37Chr 18, 48604722: 48604722
67SMAD4NM_005359.5(SMAD4): c.1547_1550dupAGAG (p.Ser517Argfs)duplicationPathogenicrs377767373GRCh37Chr 18, 48604725: 48604728
68SMAD4NM_005359.5(SMAD4): c.1564_1565delCC (p.Pro522Leufs)deletionPathogenicrs377767374GRCh37Chr 18, 48604742: 48604743
69SMAD4NM_005359.5(SMAD4): c.1571G> T (p.Trp524Leu)single nucleotide variantPathogenicrs377767375GRCh37Chr 18, 48604749: 48604749
70SMAD4NM_005359.5(SMAD4): c.1587dupA (p.His530Thrfs)duplicationPathogenicrs377767376GRCh37Chr 18, 48604765: 48604765
71SMAD4NM_005359.5(SMAD4): c.1588delC (p.His530Thrfs)deletionPathogenicrs377767377GRCh37Chr 18, 48604766: 48604766
72SMAD4NM_005359.5(SMAD4): c.1586_1587dupTA (p.His530Tyrfs)duplicationPathogenicrs377767376GRCh37Chr 18, 48604764: 48604765
73SMAD4NM_005359.5(SMAD4): c.1594delG (p.Ala532Profs)deletionPathogenicrs377767378GRCh37Chr 18, 48604772: 48604772
74SMAD4NM_005359.5(SMAD4): c.1596_1597delCCinsT (p.Leu533Serfs)indelPathogenicrs377767379GRCh37Chr 18, 48604774: 48604775
75SMAD4NM_005359.5(SMAD4): c.1596delC (p.Leu533Serfs)deletionPathogenicrs377767380GRCh37Chr 18, 48604774: 48604774
76SMAD4NM_005359.5(SMAD4): c.1597C> G (p.Leu533Val)single nucleotide variantPathogenicrs377767381GRCh37Chr 18, 48604775: 48604775
77SMAD4NM_005359.5(SMAD4): c.1598T> G (p.Leu533Arg)single nucleotide variantPathogenicrs377767382GRCh37Chr 18, 48604776: 48604776
78SMAD4NM_005359.5(SMAD4): c.1600C> T (p.Gln534Ter)single nucleotide variantPathogenicrs377767383GRCh37Chr 18, 48604778: 48604778
79SMAD4NM_005359.5(SMAD4): c.1598T> C (p.Leu533Pro)single nucleotide variantPathogenicrs377767382GRCh37Chr 18, 48604776: 48604776
80SMAD4NM_005359.5(SMAD4): c.1607dupT (p.Asp537Argfs)duplicationPathogenicrs377767384GRCh37Chr 18, 48604785: 48604785
81SMAD4NM_005359.5(SMAD4): c.1612_1625delGAAGTACTTCATAC (p.Glu538Hisfs)deletionPathogenicrs377767385GRCh37Chr 18, 48604790: 48604803
82SMAD4p.Gln410frameshiftdeletionPathogenicGRCh37Chr 18, 48592248: 48592248
83SMAD4NM_005359.5(SMAD4): c.1139G> A (p.Arg380Lys)single nucleotide variantPathogenicrs377767353GRCh37Chr 18, 48591976: 48591976
84SMAD4NM_005359.5(SMAD4): c.424+1G> Asingle nucleotide variantPathogenicrs377767386GRCh37Chr 18, 48575231: 48575231
85SMAD4NM_005359.5(SMAD4): c.189_197delAAATGGAGCins44 (p.?)indelPathogenicrs672601247GRCh37Chr 18, 48573605: 48573613
86SMAD4NM_005359.5(SMAD4): c.1447+1G> Asingle nucleotide variantPathogenicrs377767387GRCh37Chr 18, 48603147: 48603147
87STK11STK11, EX4-5DEL/EX6-7INVdeletionPathogenic
88STK11NM_000455.4(STK11): c.759C> A (p.Tyr253Ter)single nucleotide variantPathogenicrs137853075GRCh37Chr 19, 1221236: 1221236
89STK11NM_000455.4(STK11): c.843delG (p.Leu282Serfs)deletionPathogenicrs587776656GRCh38Chr 19, 1221321: 1221321
90STK11NM_000455.4(STK11): c.718_721delTCGG (p.Ser240Leufs)deletionPathogenicrs587776657GRCh38Chr 19, 1220701: 1220704
91STK11NM_000455.4(STK11): c.465-1G> Asingle nucleotide variantPathogenicrs587776658GRCh38Chr 19, 1220372: 1220372
92STK11NM_000455.4(STK11): c.250A> T (p.Lys84Ter)single nucleotide variantPathogenicrs137853076GRCh37Chr 19, 1207162: 1207162
93STK11NM_000455.4(STK11): c.834_835delTG (p.Cys278Trpfs)deletionPathogenicrs587776659GRCh38Chr 19, 1221312: 1221313
94STK11NM_000455.4(STK11): c.200T> C (p.Leu67Pro)single nucleotide variantPathogenicrs137853077GRCh37Chr 19, 1207112: 1207112
95STK11NM_000455.4(STK11): c.908_916delTCCGGCAGC (p.Ile303_His306delinsAsn)deletionPathogenicrs587776660GRCh38Chr 19, 1221994: 1222002
96STK11NM_000455.4(STK11): c.169G> T (p.Glu57Ter)single nucleotide variantPathogenicrs137854584GRCh37Chr 19, 1207081: 1207081
97STK11NM_000455.4(STK11): c.418delC (p.Leu140Trpfs)deletionPathogenicrs397518440GRCh37Chr 19, 1219366: 1219366
98STK11NM_000455.4(STK11): c.197dupT (p.Leu67Alafs)duplicationPathogenicrs397518441GRCh37Chr 19, 1207109: 1207109
99STK11NM_000455.4(STK11): c.717G> C (p.Trp239Cys)single nucleotide variantPathogenicrs137853082GRCh37Chr 19, 1220699: 1220699
100STK11NM_000455.4(STK11): c.891delG (p.Arg297Serfs)deletionPathogenicrs587776661GRCh37Chr 19, 1221976: 1221976
101STK11NM_000455.4(STK11): c.738C> G (p.Tyr246Ter)single nucleotide variantPathogenicrs137853083GRCh37Chr 19, 1221215: 1221215
102BMPR1ABMPR1A, 4-BP DEL, 44TGTTdeletionPathogenic
103BMPR1ANM_004329.2(BMPR1A): c.715C> T (p.Gln239Ter)single nucleotide variantPathogenicrs199476084GRCh37Chr 10, 88676930: 88676930
104BMPR1ANM_004329.2(BMPR1A): c.812G> A (p.Trp271Ter)single nucleotide variantPathogenicrs199476085GRCh37Chr 10, 88677027: 88677027
105BMPR1ABMPR1A, 1-BP DEL, 961CdeletionPathogenic
106BMPR1ANM_004329.2(BMPR1A): c.1013C> A (p.Ala338Asp)single nucleotide variantPathogenicrs199476086GRCh37Chr 10, 88679073: 88679073
107BMPR1ANM_004329.2(BMPR1A): c.370T> C (p.Cys124Arg)single nucleotide variantLikely pathogenic, Pathogenicrs199476087GRCh37Chr 10, 88659587: 88659587
108BMPR1ANM_004329.2(BMPR1A): c.1127G> A (p.Cys376Tyr)single nucleotide variantPathogenicrs199476088GRCh37Chr 10, 88679187: 88679187
109BMPR1ANM_004329.2(BMPR1A): c.1409T> C (p.Met470Thr)single nucleotide variantPathogenicrs199476089GRCh37Chr 10, 88683199: 88683199
110SMAD4SMAD4, 4-BP DEL, NT1372deletionPathogenic
111SMAD4SMAD4, 2-BP DELdeletionPathogenic
112SMAD4SMAD4, 1-BP INSinsertionPathogenic
113SMAD4NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys)single nucleotide variantPathogenicrs80338963GRCh37Chr 18, 48591918: 48591918
114SMAD4SMAD4, 2-BP DEL, 959ACdeletionPathogenic
115SMAD4NM_005359.5(SMAD4): c.1157G> A (p.Gly386Asp)single nucleotide variantPathogenicrs121912580GRCh37Chr 18, 48593406: 48593406
116SMAD4SMAD4, 14-BP DEL, NT1612deletionPathogenic
117SMAD4SMAD4, 2-BP DEL/1-BP INS, 1596CC/TindelPathogenic
118STK11NM_000455.4(STK11): c.169dupG (p.Glu57Glyfs)duplicationPathogenicrs398123404GRCh37Chr 19, 1207081: 1207081
119STK11NM_000455.4(STK11): c.877G> T (p.Glu293Ter)single nucleotide variantPathogenicrs398123405GRCh37Chr 19, 1221962: 1221962
120STK11NM_000455.4(STK11): c.921-1G> Tsingle nucleotide variantPathogenicrs398123406GRCh37Chr 19, 1222983: 1222983

Cosmic variations for Polyposis, Juvenile Intestinal:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
144603TP53large intestine,colon,other,hamartoma3

Expression for genes affiliated with Polyposis, Juvenile Intestinal

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Search GEO for disease gene expression data for Polyposis, Juvenile Intestinal.

Pathways for genes affiliated with Polyposis, Juvenile Intestinal

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Pathways related to Polyposis, Juvenile Intestinal according to GeneCards Suite gene sharing:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6SMAD4, SMAD9
2
Show member pathways
9.3BMPR1A, SMAD4, SMAD9
39.3BMPR1A, SMAD4, SMAD9
49.2BMPR1A, PTEN, SMAD4, STK11
5
TGF-beta Signaling Pathway (sino)
Show member pathways
9.1BMPR1A, PTEN, SMAD4, STK11
69.0SMAD4, STK11, TGFB1
79.0PTEN, SMAD4, TGFB1
89.0APC, SMAD4, TGFB1
98.9APC, BMPR1A, SMAD4, SMAD9
10
Show member pathways
8.7SMAD4, SMAD9, TGFB1
118.7SMAD4, SMAD9, TGFB1
128.7SMAD4, SMAD9, TGFB1
13
Show member pathways
8.7SMAD4, SMAD9, TGFB1
14
Show member pathways
8.7PTEN, SMAD4, STK11, TGFB1
158.7APC, BMPR1A, SMAD4, TGFB1
168.7APC, PTEN, SMAD4, TGFB1
17
Show member pathways
8.7APC, PTEN, SMAD4, TGFB1
18
Wnt Signaling Pathway (WikiPathways)
Show member pathways
8.7APC, PTEN, SMAD4, TGFB1
19
TGF-beta signaling pathway (KEGG)
Show member pathways
8.4APC, PTEN, SMAD4, TGFB1
208.3APC, PTEN, SMAD4, STK11, TGFB1
21
Show member pathways
8.1APC, BMPR1A, SMAD4, SMAD9, TGFB1
227.9APC, SMAD4, SMAD9, TGFB1, TGFBI

GO Terms for genes affiliated with Polyposis, Juvenile Intestinal

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Cellular components related to Polyposis, Juvenile Intestinal according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1SMAD protein complexGO:00711419.6SMAD4, SMAD9

Biological processes related to Polyposis, Juvenile Intestinal according to GeneCards Suite gene sharing:

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of epithelial cell proliferation involved in prostate gland developmentGO:006077010.4APC, STK11
2developmental growthGO:004858910.3BMPR1A, SMAD4
3positive regulation of transforming growth factor beta receptor signaling pathwayGO:003051110.3SMAD4, STK11
4positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulusGO:190152210.1SMAD4, SMAD9
5regulation of bindingGO:005109810.1SMAD4, TGFB1
6SMAD protein complex assemblyGO:000718310.1SMAD4, TGFB1
7regulation of transforming growth factor beta receptor signaling pathwayGO:001701510.0SMAD4, TGFB1
8negative regulation of phagocytosisGO:005076510.0PTEN, TGFB1
9anterior/posterior pattern specificationGO:000995210.0APC, BMPR1A, SMAD4
10canonical Wnt signaling pathwayGO:00600709.9APC, PTEN, STK11
11positive regulation of epithelial to mesenchymal transitionGO:00107189.9SMAD4, TGFB1
12positive regulation of bone mineralizationGO:00305019.9BMPR1A, TGFB1
13protein kinase B signalingGO:00434919.8PTEN, TGFB1
14positive regulation of protein localization to nucleusGO:19001829.8STK11, TGFB1
15endoderm developmentGO:00074929.7BMPR1A, SMAD4, TGFB1
16positive regulation of SMAD protein import into nucleusGO:00603919.7BMPR1A, SMAD4, TGFB1
17positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.6BMPR1A, SMAD4, TGFB1
18negative regulation of epithelial cell proliferationGO:00506809.4APC, PTEN, TGFB1
19BMP signaling pathwayGO:00305099.4BMPR1A, SMAD4, SMAD9
20cell cycle arrestGO:00070509.3APC, STK11, TGFB1
21negative regulation of cell growthGO:00303089.3SMAD4, STK11, TGFB1
22SMAD protein signal transductionGO:00603959.2SMAD4, SMAD9, TGFB1
23cellular response to BMP stimulusGO:00717739.0BMPR1A, SMAD4, SMAD9
24chondrocyte differentiationGO:00020628.7BMPR1A, TGFB1, TGFBI
25cell proliferationGO:00082838.6PTEN, SMAD4, TGFB1, TGFBI
26negative regulation of cell proliferationGO:00082858.6APC, PTEN, SMAD4, STK11, TGFB1
27transforming growth factor beta receptor signaling pathwayGO:00071798.4BMPR1A, SMAD4, SMAD9, TGFB1
28protein phosphorylationGO:00064688.4BMPR1A, SMAD9, STK11, TGFB1

Sources for Polyposis, Juvenile Intestinal

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet