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juvenile-polyposis-syndrome
Juvenile Polyposis Syndrome
Juvenile polyposis syndrome (JPS) is caused by germline SMAD4 (~20%) or BMPR1A (~25%) mutations; hamartomatous GI polyps with CRC risk ~40-50% by age 60; SMAD4-JPS patients also have hereditary hemorrhagic telangiectasia features; colonoscopy from age 15.
Entry Metadata
| Field | Value |
|---|---|
| ID | juvenile-polyposis-syndrome |
| Name | Juvenile Polyposis Syndrome |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 07-system |
Cross-Atlas Connections
connects-toSmad4
connects-toTgf Beta
connects-toColorectal Cancer
connects-toApc
connects-toPten
connects-toPeutz Jeghers Syndrome
connects-toLarge Intestine
connects-toLynch Syndrome
connects-toFap
connects-toStomach
connects-toGastric Cancer
connects-toMutyh Associated Polyposis
connects-toIntestinal Epithelium
connects-toPulmonary Arterial Hypertension
connects-toCowden Syndrome
connects-toPancreatic Cancer
connects-toWnt Beta Catenin
connects-toSmall Intestine
connects-toIron Deficiency Anemia
connects-toDigestive System
connects-toCardiovascular System
connects-toHereditary Diffuse Gastric Cancer
connects-toFibroblast
connects-toStk11
connects-toCollagen
connects-toEndothelial Cell
connects-toVegf
connects-toMacrophage
connects-toIron
connects-toLung
connects-toDendritic Cell
connects-toOxygen
connects-toBrain
connects-toFibrosis
connects-toPhoton
connects-toLiver
connects-toBone Marrow
connects-toElectron
connects-toSkin
connects-toEye
connects-toErythrocyte
connects-toAntibody
connects-toPancreas
connects-toStroke
connects-toActivin A
connects-toHeart
connects-toMtor
connects-toMast Cell
connects-toEsophageal Cancer
connects-toP53
connects-toVenous Thromboembolism
connects-toSepsis
connects-toStat3
connects-toNf Kb
connects-toAnemia Of Chronic Disease
connects-toHeart Failure
connects-toOsteoporosis
connects-toMajor Depressive Disorder
connects-toWound Healing
connects-toNeuropathic Pain
connects-toGeneralized Anxiety Disorder
connects-toIntegumentary System
connects-toRespiratory System
connects-toNervous System
connects-toLymphatic System
connects-toRenal System
connects-toImmune System
connects-toReproductive System
connects-toEndocrine System
connects-toDietary Fiber
connects-toCancer Chemotherapy
connects-toCheckpoint Inhibitors
connects-toStaphylococcus Aureus
connects-toMarfan Syndrome
connects-toArterial Wall
connects-toEndocardium
connects-toAlveolus
connects-toHepatic Lobule
connects-toLi Fraumeni Syndrome
connects-toTuberous Sclerosis Complex
connects-toAngiopoietin
connects-toMyocardium
connects-toProstaglandins
connects-toIl 6
connects-toSmooth Muscle Cell
connects-toAkt
connects-toMyc
connects-toHif 1Alpha
connects-toKras
connects-toTert
connects-toCcl2
connects-toNitric Oxide
connects-toEgfr
connects-toCaspase 3
connects-toEndothelin 1
connects-toMlh1
connects-toMutyh
connects-toErk1 2
connects-toPik3Ca
connects-toCdh1
connects-toJak1 2
connects-toMyd88
connects-toRb1
connects-toGalectin 3
connects-toCdkn2A
connects-toCgas Sting
connects-toStat1
connects-toCdk4 6
connects-toFoxo
connects-toGsk 3B
connects-toMdm2
connects-toS100A8 A9
connects-toSrc Kinase
connects-toDnmt3A
connects-toPerforin
connects-toAmpk
connects-toAutophagy
connects-toCcr5
connects-toArid1A
connects-toCxcl12
connects-toIl 1B
connects-toIl 33
connects-toIl 17A
connects-toComplement C3
connects-toHemoglobin
connects-toMhc Class Ii
connects-toIl 2
connects-toT Cytotoxic Cell
connects-toXanthine Oxidase
connects-toIl 10
connects-toIl 4
connects-toCholesterol
connects-toLeptin
connects-toIl 13
connects-toHepcidin
connects-toAdiponectin
connects-toResistin
connects-toZinc
connects-toCalcium
connects-toIl 5
connects-toType I Interferon
connects-toIfn Gamma
connects-toIl 12
connects-toIl 23
connects-toIge
connects-toT Helper Cell
connects-toPlasma Cell
connects-toNatural Killer Cell
connects-toB Cell
connects-toC5Ar1
connects-toTransferrin
connects-toTslp
connects-toPeriostin
connects-toVitamin D
connects-toBradykinin
connects-toC1 Esterase Inhibitor
connects-toErythropoietin
connects-toHistamine
connects-toMelatonin
connects-toTestosterone
connects-toProlactin
connects-toOxytocin
connects-toVasopressin
connects-toSerotonin
connects-toSelenium
connects-toIodine
connects-toSodium
connects-toMagnesium
connects-toCopper
connects-toCarbon
connects-toChloride
connects-toNitrogen
connects-toHydrogen
connects-toPhosphorus
connects-toPotassium
connects-toPd 1
connects-toGlp 1
connects-toAngiotensin Ii
connects-toRankl
connects-toFibronectin
connects-toNotch
connects-toIgf 1
connects-toCgrp
connects-toCalcitonin
connects-toSubstance P
connects-toInsulin Receptor
connects-toAldosterone
connects-toAndrogen Receptor
connects-toNorepinephrine
connects-toAdrenomedullin
connects-toBdnf
connects-toOsteopontin
connects-toFgfr
Sources
- Howe JR, Roth S, Ringold JC, et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science. 1998;280(5366):1086-1088. · PubMed 9582123
- Aretz S, Stienen D, Uhlhaas S, et al. High proportion of large genomic deletions and a genotype-phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet. 2007;44(11):702-709. · PubMed 17601924