Hereditary diffuse gastric cancer
Synonyms: FDGC · Familial diffuse cancer of stomach · Familial diffuse gastric cancer · HDGC · Hereditary diffuse cancer of stomach · Hereditary diffuse gastric adenocarcinoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of <i>CDH1</i>, <i>MAP3K6</i> and <i>CTNNA1</i> genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary diffuse gastric cancer | FDGC · Familial diffuse cancer of stomach · Familial diffuse gastric cancer · HDGC · Hereditary diffuse cancer of stomach · Hereditary diffuse gastric adenocarcinoma |
| fr | Cancer gastrique diffus héréditaire | Adénocarcinome gastrique diffus héréditaire · Cancer de l'estomac diffus familial · Cancer de l'estomac diffus héréditaire · Cancer gastrique diffus familial · HDGC |
| de | Magenkarzinom, diffuses hereditäres | Diffuser Magenkrebs, familiäre Form · FDGC · Familiärer diffuser Krebs des Magens · HDGC · Hereditäres diffuses gastrisches Adenokarzinom |
| es | Cáncer gástrico difuso hereditario | Adenocarcinoma gástrico difuso hereditario · Cáncer de estómago difuso familiar · Cáncer de estómago difuso hereditario · Cáncer gástrico difuso familiar · FDGC · HDGC |
| it | Tumore gastrico diffuso ereditario | Adenocarcinoma gastrico diffuso ereditario · FDGC · HDGC · Tumore diffuso ereditario dello stomaco · Tumore diffuso familiare dello stomaco · Tumore gastrico diffuso familiare |
| nl | Hereditaire diffuse maagkanker | Erfelijke diffuse kanker van maag · FDGC · Familiale diffuse kanker van maag · Familiale diffuse maagkanker · HDGC · Hereditair diffuus adenocarcinoom van maag |
| pt | Cancro gástrico difuso hereditário | Cancro do estômago difuso familiar · Cancro do estômago difuso hereditário · Cancro gástrico difuso familiar · FDGC · HDGC · Adenocarcinoma gástrico difuso hereditário |
| pl | Dziedziczny rozlany rak żołądka | Dziedziczny rozlany gruczolakorak żołądka · FDGC · HDGC · Rodzinny rozlany rak żołądka |
| cs | Hereditární difuzní žaludeční nádor | FDGC · Familiární difuzní nádor žaludku · HDGC · Hereditární difuzní nádor žaludku · Familiární difuzní žaludeční nádor · Hereditární difuzní žaludeční adenokarcinom |
| uk | Спадковий дифузний рак шлунка | Сімейний дифузний рак шлунка · Сімейний дифузний рак шлунка · FDGC · HDGC · Спадковий дифузний рак шлунка · Спадкова дифузна аденокарцинома шлунка |
| zh | 遗传性弥漫性胃癌 | 遗传性弥漫性胃腺癌 |
| tr | Kalıtsal yaygın mide kanseri | FDGC · HDGC · Ailesel yaygın mide kanseri · Ailesel yaygın mide kanseri · Kalıtsal yaygın mide kanseri · Kalıtsal yaygın mide adenokarsinomu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 137215 | E | validated | |
| ICD-10 | C16.9 | NTBT | attributed | validated |
| ICD-11 | 2B72.Y | NTBT | attributed | validated |
| MONDO | 0007648 | E | validated | |
| UMLS | C4721859 | E | validated | |
| GARD | 10900 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:271835Genetic digestive tract tumor
rare genetic diseases - ORPHA:165658Genetic gastro-esophageal disease
rare genetic diseases - ORPHA:423776Hereditary gastric cancer
rare gastroenterological diseases; rare neoplastic diseases - ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTNNA1 | Candidate gene tested in | Not yet assessed | HGNC:2509 | ENSG00000044115 | 116805 | 5q31.2 | catenin alpha 1 | 26049741[PMID]_26182300[PMID]_23208944[PMID] |
| MAP3K6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6858 | ENSG00000142733 | 604468 | 1p36.11 | mitogen-activated protein kinase kinase kinase 6 | 25340522[PMID] |
| CDH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1748 | ENSG00000039068 | 192090 | 16q22.1 | cadherin 1 | 19168852[PMID]_20301318[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1.5 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/26106
- This record as JSON: /data/d/26106.json