ORPHA:329971
Generalized juvenile polyposis/juvenile polyposis coli
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
This disease is described under Juvenile polyposis syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Generalized juvenile polyposis/juvenile polyposis coli | |
| fr | Polypose juvénile généralisée/Polypose juvénile colorectale | |
| de | Generalisierte juvenile Polyposis/juvenile Polyposis coli | |
| es | Poliposis juvenil generalizada/poliposis juvenil coli | |
| it | Poliposi giovanile generalizzata/poliposi giovanile del colon | |
| nl | Gegeneraliseerde juveniele polyposis/juveniele polyposis coli | |
| pt | Polipose generalizada juvenil/polipose do colón juvenil | |
| pl | Uogólniona młodzieńcza polipowatość jelita cienkiego | |
| cs | Generalizovaná juvenilní polypóza/juvenilní polyposis coli | |
| uk | Генералізований ювенільний поліпоз / ювенільний поліпозний коліт | |
| zh | 青少年息肉/遗传性出血性毛细血管扩张综合征 | |
| tr | Jeneralize jüvenil polipoz/jüvenil polipoz koli |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 174900 | E | validated | |
| OMIM | 175050 | NTBT | validated | |
| ICD-10 | D12.6 | NTBT | attributed | validated |
| ICD-11 | 2B90.Y | NTBT | attributed | validated |
| MONDO | 0008276 | E | validated | |
| UMLS | C5680947 | 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 (1):
- ORPHA:2929Juvenile polyposis syndrome
rare gastroenterological diseases; rare genetic diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ENG | Candidate gene tested in | Not yet assessed | HGNC:3349 | ENSG00000106991 | 131195 | 9q34.11 | endoglin | 17204053[PMID]_18178612[PMID] |
| BMPR1A | Disease-causing germline mutation(s) in | Assessed | HGNC:1076 | ENSG00000107779 | 601299 | 10q23.2 | bone morphogenetic protein receptor type 1A | 18823382[PMID] |
| SMAD4 | Disease-causing germline mutation(s) in | Assessed | HGNC:6770 | ENSG00000141646 | 600993 | 18q21.2 | SMAD family member 4 | 18823382[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
11 annotations · validated 2019-01-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001892 | Abnormal bleeding | |
| Frequent (79-30%) | ||
| HP:0005227 | Adenomatous colonic polyposis | |
| HP:0001903 | Anemia | |
| HP:0001017 | Anemic pallor | |
| HP:0002573 | Hematochezia | |
| HP:0100896 | Rectal polyposis | |
| Occasional (29-5%) | ||
| HP:0000969 | Edema | |
| HP:0001510 | Growth delay | |
| HP:0004394 | Multiple gastric polyps | |
| Very rare (<4-1%) | ||
| HP:0004783 | Duodenal polyposis | |
| HP:0030256 | Small intestinal polyposis | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 27072264[PMID]_20301642[PMID]_29169633[PMID]_26672891[PMID]_20301642[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329971
- This record as JSON: /data/d/329971.json