Hereditary Pancreatitis(Hereditary chronic pancreatitis) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Gastrointestinal disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Gastrointestinal disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | PRSS1/5644 | serine protease 1 | 7q34 | Chr7, NC_000007.14 (142749472..142753072) |
3601 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | SPINK1/6690 | serine peptidase inhibitor Kazal type 1 | 5q32 | Chr5, NC_000005.10 (147824582..147839196, complement) |
14615 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | CFTR/1080 | CF transmembrane conductance regulator | 7q31.2 | Chr7, NC_000007.14 (117480025..117668665) |
188641 nt | 27 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | CTRC/11330 | chymotrypsin C | 1p36.21 | Chr1, NC_000001.11 (15438443..15449242) |
10800 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | CPA1/1357 | carboxypeptidase A1 | 7q32.2 | Chr7, NC_000007.14 (130380494..130388108) |
7615 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |