ORPHA:2929
Juvenile polyposis syndrome
Synonyms: JIP · JPS · Juvenile gastrointestinal polyposis · Juvenile intestinal polyposis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare inherited cancer-predisposing syndrome characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Juvenile polyposis syndrome | JIP · JPS · Juvenile gastrointestinal polyposis · Juvenile intestinal polyposis |
| fr | Syndrome de polypose juvénile | JIP · JPS · PIJ · Polypose gastro-intestinale juvénile · Polypose intestinale juvénile |
| de | Juveniles Polyposis-Syndrom | JPS · Juvenile gastrointestinale Polyposis · Juvenile intestinale Polypose |
| es | Síndrome de poliposis juvenil | JIP · JIPS · Síndrome de poliposis gastrointestinal juvenil |
| it | Poliposi gastrointestinale giovanile | JPS · Poliposi intestinale giovanile · Sindrome della poliposi giovanile |
| nl | Juveniele polyposis-syndroom | JIP · JPS · Juveniele gastro-intestinale polyposis · Juveniele intestinale polyposis |
| pt | Síndrome de polipose juvenil | JIP · JPS · Polipose gastro-intestinal juvenil · Polipose intestinal juvenil |
| pl | Polipowatość młodzieńcza | JIP · JPS · Młodzieńcza polipowatość jelit · Młodzieńcza polipowatość żołądkowo-jelitowa |
| cs | Juvenilní polypóza | JIP · JPS · Syndrom juvenilní polypózy · Juvenilní intestinální polypóza |
| uk | Синдром ювенільного поліпозу | JIP · JPS · Ювенільний поліпоз шлунково-кишкового тракту · Ювенільний поліпоз кишечника |
| zh | 幼年性息肉病综合征 | 幼年性胃肠道息肉病 |
| tr | Jüvenil polipozis sendromu | JIP · JPS · jüvenil intestinal polipoz · jüvenil gastrointestinal polipoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 174900 | BTNT | validated | |
| OMIM | 175050 | NTBT | validated | |
| OMIM | 612242 | NTBT | validated | |
| ICD-10 | D12.6 | NTBT | attributed | validated |
| ICD-11 | 2B90.Y | NTBT | index | validated |
| MONDO | 0017380 | E | validated | |
| MeSH | C537702 | E | validated | |
| UMLS | C0345893 | E | validated | |
| GARD | 3065 | E | validated | |
| MedDRA | 10089326 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:363314Genetic intestinal polyposis
rare genetic diseases - ORPHA:104010Intestinal polyposis syndrome
rare gastroenterological diseases; rare genetic diseases; rare neoplastic diseases; rare transplant-related disorders
4
Genes
0 direct · 5 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| ENG | ORPHA:329971Generalized juvenile polyposis/juvenile polyposis coli | Candidate gene tested in | Not yet assessed | HGNC:3349 | ENSG00000106991 | 131195 | 9q34.11 | endoglin | 17204053[PMID]_18178612[PMID] |
| BMPR1A | ORPHA:329971Generalized juvenile polyposis/juvenile polyposis coli | Disease-causing germline mutation(s) in | Assessed | HGNC:1076 | ENSG00000107779 | 601299 | 10q23.2 | bone morphogenetic protein receptor type 1A | 18823382[PMID] |
| SMAD4 | ORPHA:329971Generalized juvenile polyposis/juvenile polyposis coli | Disease-causing germline mutation(s) in | Assessed | HGNC:6770 | ENSG00000141646 | 600993 | 18q21.2 | SMAD family member 4 | 18823382[PMID] |
| BMPR1A | ORPHA:79076Juvenile polyposis of infancy | Role in the phenotype of | Assessed | HGNC:1076 | ENSG00000107779 | 601299 | 10q23.2 | bone morphogenetic protein receptor type 1A | 16685657[PMID]_22993021[PMID]_23331837[PMID] |
| PTEN | ORPHA:79076Juvenile polyposis of infancy | Role in the phenotype of | Assessed | HGNC:9588 | ENSG00000171862 | 601728 | 10q23.31 | phosphatase and tensin homolog | 16685657[PMID]_22993021[PMID]_23331837[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 3.85 / 100 000 | Europe | Value and class | Validated | 20301642[PMID]_[EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
52 annotations · validated 2019-01-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0012198 | Juvenile colonic polyposis | Diagnostic criterion |
| HP:0004784 | Juvenile gastrointestinal polyposis | Diagnostic criterion |
| HP:0100896 | Rectal polyposis | |
| Very frequent (99-80%) | ||
| HP:0005266 | Intestinal polyp | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001903 | Anemia | |
| HP:0004390 | Hamartomatous polyposis | |
| HP:0030256 | Small intestinal polyposis | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0012432 | Chronic fatigue | |
| HP:0100759 | Clubbing of fingers | |
| HP:0003003 | Colon cancer | |
| HP:0002014 | Diarrhea | |
| HP:0000969 | Edema | |
| HP:0001508 | Failure to thrive | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0001510 | Growth delay | |
| HP:0004795 | Hamartomatous stomach polyps | |
| HP:0002573 | Hematochezia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002576 | Intussusception | |
| HP:0002003 | Large forehead | |
| HP:0000256 | Macrocephaly | |
| HP:0007378 | Neoplasm of the gastrointestinal tract | |
| HP:0100833 | Neoplasm of the small intestine | |
| HP:0100822 | Rectocele | |
| HP:0000331 | Short chin | |
| HP:0004406 | Spontaneous, recurrent epistaxis | |
| HP:0012126 | Stomach cancer | |
| Very rare (<4-1%) | ||
| HP:0040231 | Abnormal onset of bleeding | |
| HP:0012050 | Anasarca | |
| HP:0100026 | Arteriovenous malformation | |
| HP:0030049 | Brain abscess | |
| HP:0002408 | Cerebral arteriovenous malformation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000421 | Epistaxis | |
| HP:0004941 | Extrahepatic portal hypertension | |
| HP:0010797 | Hemangioblastoma | |
| HP:0006574 | Hepatic arteriovenous malformation | |
| HP:0000316 | Hypertelorism | |
| HP:0003075 | Hypoproteinemia | |
| HP:0000369 | Low-set ears | |
| HP:0100579 | Mucosal telangiectasiae | |
| HP:0001012 | Multiple lipomas | |
| HP:0000160 | Narrow mouth | |
| HP:0002894 | Neoplasm of the pancreas | |
| HP:0002243 | Protein-losing enteropathy | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0006548 | Pulmonary arteriovenous malformation | |
| HP:0002326 | Transient ischemic attack | |
| HP:0100761 | Visceral angiomatosis | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 20301642[PMID]_29169633[PMID]_25022750[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2929
- This record as JSON: /data/d/2929.json