ORPHA:447877
Polymerase proofreading-related polyposis
Synonyms: PPAP · Polymerase proofreading-related adenomatous polyposis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Polymerase proofreading-related polyposis | PPAP · Polymerase proofreading-related adenomatous polyposis |
| fr | Polypose associée aux ADN polymérases | PPAP · Polypose adénomateuse associée aux ADN polymérases |
| de | Polymerase-Proofreading-assoziierte Polyposis | PPAP · Polymerase-Proofreading-abhängige adenomatöse Polyposis |
| es | Poliposis asociada a la lectura de prueba de la polimerasa | PPAP · Poliposis adenomatosa asociada a la lectura de prueba de la polimerasa |
| it | Poliposi adenomatosa associata all'attivit di ''correzione delle bozze'' della polimerasi | PPAP |
| nl | Polymerase-proofreading-gerelateerde polyposis | PPAP · Polymerase-proofreading-gerelateerde adenomateuze polyposis |
| pt | Polipose relacionada com a polimerase de revisão | PPAP · Polipose adenomatosa relacionada com a polimerase de revisão |
| pl | Polipowatość gruczolakowata związana z polimerazą "proofreading | PPAP |
| cs | Syndrom PAPP | PPAP · Adenomatózní polypóza spojená s poruchou "proofreading" polymeráz |
| uk | Аденоматозний поліпоз, повязаний з коригуванням полімерази | PPAP |
| zh | 聚合酶校对相关腺瘤性息肉病 | PPAP |
| tr | Polimeraz hata okuması-ilişkili adenomatöz polipoz | PPAP |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612591 | BTNT | validated | |
| OMIM | 615083 | BTNT | validated | |
| ICD-10 | D12.6 | NTBT | attributed | validated |
| MONDO | 0018653 | E | validated | |
| UMLS | C5202613 | 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:104010Intestinal polyposis syndrome
rare gastroenterological diseases; rare genetic diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POLD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9175 | ENSG00000062822 | 174761 | 19q13.33 | DNA polymerase delta 1, catalytic subunit | 23263490[PMID] |
| POLE | Disease-causing germline mutation(s) in | Assessed | HGNC:9177 | ENSG00000177084 | 174762 | 12q24.33 | DNA polymerase epsilon, catalytic subunit | 23263490[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
7 annotations · validated 2018-12-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0005227 | Adenomatous colonic polyposis | |
| HP:0200063 | Colorectal polyposis | |
| HP:0012114 | Endometrial carcinoma | |
| Occasional (29-5%) | ||
| HP:0040276 | Adenocarcinoma of the colon | |
| HP:0030692 | Brain neoplasm | |
| HP:0003002 | Breast carcinoma | |
| HP:0100743 | Neoplasm of the rectum | |
Annotation source: 26133394[PMID]_25370038[PMID]_24501277[PMID]_23263490[PMID]_23447401[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/447877
- This record as JSON: /data/d/447877.json