ORPHA:700124
Autosomal recessive hereditary chronic pancreatitis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive hereditary chronic pancreatitis | |
| fr | Pancréatite chronique héréditaire autosomique récessive | |
| de | Pankreatitis, chronische hereditäre, autosomal-rezessive | |
| es | Pancreatitis crónica hereditaria autosómica recesiva | |
| it | Pancreatite cronica ereditaria autosomica recessiva | |
| nl | Autosomaal recessieve hereditaire chronische pancreatitis | Autosomaal recessieve erfelijke alvleesklierontsteking |
| pt | Autosomal recessive hereditary chronic pancreatitis | |
| pl | Autosomal recessive hereditary chronic pancreatitis | |
| cs | Autosomal recessive hereditary chronic pancreatitis |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 167800 | NTBT | validated | |
| ICD-10 | K86.1 | NTBT | attributed | not yet validated |
| ICD-11 | DC32.2 | NTBT | attributed | not yet 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 (2):
- ORPHA:165661Genetic pancreatic disease
rare genetic diseases - ORPHA:101937Rare pancreatic disease
rare gastroenterological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CFTR | Candidate gene tested in | Not yet assessed | HGNC:1884 | ENSG00000001626 | 602421 | 7q31.2 | CF transmembrane conductance regulator | 22572128[PMID] |
| SPINK1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11244 | ENSG00000164266 | 167790 | 5q32 | serine peptidase inhibitor Kazal type 1 | 17274009[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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/700124
- This record as JSON: /data/d/700124.json