ORPHA:1333
Familial pancreatic carcinoma
Synonyms: Familial pancreatic cancer
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Multigenic/multifactorial
- Age of onset
- Adult
- Status
- active
Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial pancreatic carcinoma | Familial pancreatic cancer |
| fr | Carcinome pancréatique familial | Cancer pancréatique familial |
| de | Pankreaskarzinom, familiäres | |
| es | Carcinoma pancreático familiar | |
| it | Carcinoma familiare del pancreas | Carcinoma del pancreas, forma familiare |
| nl | Familiaal carcinoom van pancreas | Familiaal carcinoom van alvleesklier · Familiaal pancreascarcinoom · Familiale pancreaskanker |
| pt | Carcinoma pancreático familiar | |
| pl | Rodzinny rak trzustki | Rodzinny rak trzustki |
| cs | Familiární karcinom pankreatu | Familiární pankreatická rakovina |
| uk | Сімейна карцинома підшлункової залози | Сімейний рак підшлункової залози |
| zh | 家族性胰腺癌 | 家族性胰腺癌 |
| tr | Ailesel pankreas karsinomu | Ailesel pankreas kanseri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 260350 | NTBT | validated | |
| OMIM | 606856 | BTNT | validated | |
| OMIM | 613347 | BTNT | validated | |
| OMIM | 613348 | BTNT | validated | |
| OMIM | 614320 | BTNT | validated | |
| ICD-10 | C25 | NTBT | inclusion | validated |
| ICD-11 | 2C10.Z | NTBT | index | validated |
| MONDO | 0015278 | E | validated | |
| MeSH | C535837 | E | validated | |
| UMLS | C2931038 | E | validated | |
| GARD | 4206 | 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:165661Genetic pancreatic disease
rare genetic diseases - ORPHA:217074Rare carcinoma of pancreas
rare gastroenterological diseases; rare neoplastic diseases
No children.
4
Genes
9 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RABL3 | Disease-causing germline mutation(s) in | Assessed | HGNC:18072 | ENSG00000144840 | 618542 | 3q13.33 | RAB, member of RAS oncogene family like 3 | 31406347[PMID] |
| BRCA1 | Major susceptibility factor in | Assessed | HGNC:1100 | ENSG00000012048 | 113705 | 17q21.31 | BRCA1 DNA repair associated | 18855126[PMID] |
| BRCA2 | Major susceptibility factor in | Assessed | HGNC:1101 | ENSG00000139618 | 600185 | 13q13.1 | BRCA2 DNA repair associated | 12569143[PMID] |
| CDKN2A | Major susceptibility factor in | Assessed | HGNC:1787 | ENSG00000147889 | 600160 | 9p21.3 | cyclin dependent kinase inhibitor 2A | 25240578[PMID] |
| KRAS | Major susceptibility factor in | Assessed | HGNC:6407 | ENSG00000133703 | 190070 | 12p12.1 | KRAS proto-oncogene, GTPase | 25240578[PMID] |
| PALB2 | Major susceptibility factor in | Assessed | HGNC:26144 | ENSG00000083093 | 610355 | 16p12.2 | partner and localizer of BRCA2 | 20412113[PMID]_21365267[PMID] |
| PALLD | Major susceptibility factor in | Assessed | HGNC:17068 | ENSG00000129116 | 608092 | 4q32.3 | palladin, cytoskeletal associated protein | 17194196[PMID] |
| SMAD4 | Major susceptibility factor in | Assessed | HGNC:6770 | ENSG00000141646 | 600993 | 18q21.2 | SMAD family member 4 | 25240578[PMID] |
| TP53 | Major susceptibility factor in | Assessed | HGNC:11998 | ENSG00000141510 | 191170 | 17p13.1 | tumor protein p53 | 25240578[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | 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
24 annotations · validated 2017-10-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0006725 | Pancreatic adenocarcinoma | |
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002039 | Anorexia | |
| HP:0003418 | Back pain | |
| HP:0012432 | Chronic fatigue | |
| HP:0001738 | Exocrine pancreatic insufficiency | |
| HP:0004396 | Poor appetite | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0012334 | Extrahepatic cholestasis | |
| HP:0005249 | Functional intestinal obstruction | |
| HP:0004389 | Intestinal pseudo-obstruction | |
| HP:0000952 | Jaundice | |
| HP:0002716 | Lymphadenopathy | |
| Occasional (29-5%) | ||
| HP:0003002 | Breast carcinoma | |
| HP:0003003 | Colon cancer | |
| HP:0000819 | Diabetes mellitus | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0002254 | Intermittent diarrhea | |
| HP:0002861 | Melanoma | |
| HP:0002017 | Nausea and vomiting | |
| HP:0002896 | Neoplasm of the liver | |
| HP:0025318 | Ovarian carcinoma | |
| HP:0100592 | Peritoneal abscess | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 7545954[PMID]_19264984[PMID]_7597059[PMID]_2296965[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1333
- This record as JSON: /data/d/1333.json