Autosomal dominant hereditary chronic pancreatitis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare gastroenterologic disease characterized by recurrent acute pancreatitis and/or chronic pancreatitis in at least 2 first-degree relatives, or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. This rare inherited form of pancreatitis leads to irreversible damage to both exocrine and endocrine components of the pancreas.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant hereditary chronic pancreatitis | |
| fr | Pancréatite chronique héréditaire autosomique dominante | |
| de | Pankreatitis, chronische hereditäre, autosomal-dominante | |
| es | Pancreatitis crónica hereditaria autosómica dominante | |
| it | Pancreatite cronica ereditaria | |
| nl | Autosomaal dominante hereditaire chronische pancreatitis | |
| pt | Pancreatite crónica hereditária autossómica dominante | |
| pl | Dziedziczne przewlekłe zapalenie trzustki | |
| cs | Hereditární chronická pankreatitida | |
| uk | Спадковий хронічний панкреатит | |
| zh | 遗传性慢性胰腺炎 | |
| tr | Kalıtsal kronik pankreatit |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 167800 | NTBT | validated | |
| ICD-10 | K86.1 | NTBT | attributed | validated |
| ICD-11 | DC32.2 | NTBT | attributed | validated |
| MONDO | 0008185 | E | validated | |
| UMLS | C0238339 | E | validated | |
| GARD | 6632 | 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:165661Genetic pancreatic disease
rare genetic diseases - ORPHA:181381Other rare diabetes mellitus
rare endocrine diseases - ORPHA:183625Rare genetic diabetes mellitus
rare genetic diseases - ORPHA:101937Rare pancreatic disease
rare gastroenterological diseases
No children.
Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CASR | Candidate gene tested in | Not yet assessed | HGNC:1514 | ENSG00000036828 | 601199 | 3q13.33-q21.1 | calcium sensing receptor | 26166472[PMID] |
| CTRC | Candidate gene tested in | Not yet assessed | HGNC:2523 | ENSG00000162438 | 601405 | 1p36.21 | chymotrypsin C | 18059268[PMID]_23601753[PMID]_22539344[PMID] |
| PRSS2 | Candidate gene tested in | Not yet assessed | HGNC:9483 | ENSG00000275896 | 601564 | 7q34 | serine protease 2 | 18461367[PMID] |
| PRSS1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:9475 | ENSG00000204983 | 276000 | 7q34 | serine protease 1 | 23864476[PMID]_22379635[PMID] |
| CPA1 | Major susceptibility factor in | Assessed | HGNC:2296 | ENSG00000091704 | 114850 | 7q32.2 | carboxypeptidase A1 | 23955596[PMID]_24522117[PMID] |
| TRPV6 | Major susceptibility factor in | Assessed | HGNC:14006 | ENSG00000165125 | 606680 | 7q34 | transient receptor potential cation channel subfamily V member 6 | 31930989[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.3 / 100 000 | France | Value and class | Validated | 18755888[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.57 / 100 000 | Denmark | Value and class | Validated | 20502448[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.43 / 100 000 | Europe | Value and class | Validated | 18755888[PMID]_20502448[PMID] |
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
9 annotations · validated 2017-03-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0100027 | Recurrent pancreatitis | |
| Frequent (79-30%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| Occasional (29-5%) | ||
| HP:0000819 | Diabetes mellitus | |
| HP:0000952 | Jaundice | |
| HP:0005213 | Pancreatic calcification | |
| HP:0030247 | Splanchnic vein thrombosis | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 9091646[PMID]_27603351[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/676
- This record as JSON: /data/d/676.json