REGENERATING ISLET-DERIVED 1-ALPHA
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PANCREATIC STONE PROTEIN, SECRETORY LITHOSTATHINE REGENERATING ISLET-DERIVED, RAT, HOMOLOG OF REG1A PSPS REG |
| Number of Symptoms | 3 |
| OrphanetNr: | |
| OMIM Id: |
167770
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0005236) | Chronic calcifying pancreatitis | 2 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) | REG1A belongs to a family of secreted proteins containing a C-type lectin domain. It plays a role in proliferation, differentiation, and inflammation (Acquatella-Tran Van Ba et al., 2012). |