ORPHA:2805
Partial pancreatic agenesis
Synonyms: Congenital pancreatic agenesis · Partial agenesis of the pancreas
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Partial pancreatic agenesis | Congenital pancreatic agenesis · Partial agenesis of the pancreas |
| fr | Agénésie partielle du pancréas | Agénésie congénitale du pancréas |
| de | Pankreasagenesie, partielle | Pankreasagenesie, kongenitale |
| es | Agenesia pancreática parcial | Agenesia pancreática congénita · Agenesia parcial del páncreas |
| it | Agenesia pancreatica parziale | Agenesia congenita del pancreas · Agenesia parziale del pancreas |
| nl | Partiële pancreatische agenesie | Congenitaie pancreatische agenesie · Partiële agenesie van alvleesklier · Partiële agenesie van pancreas |
| pt | Agenesia pancreática parcial | Agenesia do pâncreas parcial · Agenesia pancreática congénita |
| pl | Częściowa agnezja trzustki | Częściowa agnezja trzustki · Wrodzona agnezja trzustki |
| cs | Parciální pankreatická ageneze | Vrozená ageneze pankreatu · Parciální ageneze pankreatu |
| uk | Часткова агенезія підшлункової залози | Вроджена патологія підшлункової залози · Часткова агенезія підшлункової залози |
| zh | 胰腺部分发育不全 | 胰腺部分发育不全 |
| tr | Kısmi pankreas agenezi | Doğumsal pankreas agenezi · Pankreasın kısmi agenezi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 167755 | BTNT | validated | |
| OMIM | 260370 | E | validated | |
| OMIM | 615935 | BTNT | validated | |
| ICD-10 | Q45.0 | NTBT | attributed | validated |
| ICD-11 | LB21.4 | E | specific | validated |
| UMLS | C4305001 | E | validated | |
| GARD | 4203 | 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 (1):
- ORPHA:108971Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PDX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6107 | ENSG00000139515 | 600733 | 13q12.2 | pancreatic and duodenal homeobox 1 | 8988180[PMID] |
| PTF1A | Disease-causing germline mutation(s) in | Assessed | HGNC:23734 | ENSG00000168267 | 607194 | 10p12.2 | pancreas associated transcription factor 1a | 24212882[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 8988180[PMID] | |
| 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2805
- This record as JSON: /data/d/2805.json