ORPHA:79076
Juvenile polyposis of infancy
Synonyms: Infantile juvenile polyposis syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Juvenile polyposis syndrome
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Juvenile polyposis of infancy | Infantile juvenile polyposis syndrome |
| fr | Polypose juvénile infantile | |
| de | Polyposis-Syndrom, juveniles, frühkindliche Form | Polypose, juvenile, infantile Form |
| es | Poliposis juvenil del lactante | Síndrome de poliposis juvenil del lactante |
| it | Poliposi infantile e giovanile | |
| nl | Juveniele polyposis beginnend in de zuigelingentijd | Infantiele juveniele polyposis-syndroom · Juveniele polyposis, infantiele vorm |
| pt | Polipose juvenil infantil | Síndrome polipose juvenil forma infantil |
| pl | Młodzieńcza polipowatość niemowląt | Dziecięcy zespół polipowatości |
| cs | Juvenilní polypóza v dětském věku | Syndrom infantilní juvenilní polypózy |
| uk | Ювенільний поліпоз дитячого віку | Синдром інфантильного ювенільного поліпозу |
| zh | 婴儿幼年性息肉病 | 婴幼儿息肉病综合征 |
| tr | Süt çocuğu jüvenil polipozisi | İnfantil jüvenil polipoz sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 175050 | NTBT | validated | |
| OMIM | 612242 | NTBT | validated | |
| ICD-10 | D12.6 | NTBT | attributed | validated |
| ICD-11 | 2B90.Y | NTBT | index | validated |
| MONDO | 0019190 | E | validated | |
| UMLS | C5445164 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:2929Juvenile polyposis syndrome
rare gastroenterological diseases; rare genetic diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:262083Partial deletion of the long arm of chromosome 10 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BMPR1A | 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 | Role in the phenotype of | Assessed | HGNC:9588 | ENSG00000171862 | 601728 | 10q23.31 | phosphatase and tensin homolog | 16685657[PMID]_22993021[PMID]_23331837[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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.
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HPO phenotypes
43 annotations · validated 2019-01-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0005227 | Adenomatous colonic polyposis | |
| Very frequent (99-80%) | ||
| HP:0001903 | Anemia | |
| HP:0002014 | Diarrhea | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001892 | Abnormal bleeding | |
| HP:0001999 | Abnormal facial shape | |
| HP:0004326 | Cachexia | |
| HP:0004390 | Hamartomatous polyposis | |
| HP:0001028 | Hemangioma | |
| HP:0002573 | Hematochezia | |
| HP:0000316 | Hypertelorism | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0001249 | Intellectual disability | |
| HP:0002003 | Large forehead | |
| HP:0000256 | Macrocephaly | |
| HP:0002249 | Melena | |
| HP:0002243 | Protein-losing enteropathy | |
| HP:0005505 | Refractory anemia | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0001631 | Atrial septal defect | |
| HP:0010174 | Broad phalanx of the toes | |
| HP:0011304 | Broad thumb | |
| HP:0100759 | Clubbing of fingers | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0030257 | Freckled genitalia | |
| HP:0002007 | Frontal bossing | |
| HP:0001290 | Generalized hypotonia | |
| HP:0010797 | Hemangioblastoma | |
| HP:0002705 | High, narrow palate | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002584 | Intestinal bleeding | |
| HP:0002576 | Intussusception | |
| HP:0000369 | Low-set ears | |
| HP:0006608 | Midclavicular hypoplasia | |
| HP:0001270 | Motor delay | |
| HP:0000160 | Narrow mouth | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002035 | Rectal prolapse | |
| HP:0000331 | Short chin | |
| HP:0004322 | Short stature | |
| Very rare (<4-1%) | ||
| HP:0001031 | Subcutaneous lipoma | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 25022750[PMID]_23331837[PMID]_16685657[PMID]_20301642[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79076
- This record as JSON: /data/d/79076.json