Pancreatitis, Hereditary malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Skin diseases, Metabolic diseases, Endocrine diseases, Blood diseases, Bone diseases, Immune diseases
2CDC, 11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Pancreatitis, Hereditary:
Orphanet epidemiological data:53
hereditary chronic pancreatitis:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (France),1-9/1000000 (Denmark),1-9/1000000 (Europe); Age of onset: Adolescent,Childhood; Age of death: elderly
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Eye diseases, Gastrointestinal diseases, Skin diseases, Endocrine diseases, Blood diseases, Bone diseases, Immune diseases
ICD10: 30 29
Rare eye diseases
Rare gastroenterological diseases
Rare skin diseases
Inborn errors of metabolism
Rare endocrine diseases
Rare haematological diseases
NIH Rare Diseases:47 Hereditary pancreatitis is a rare genetic condition that causes multiple episodes of pancreatitis. The first episode of pancreatitis usually occurs in late childhood. Signs and symptoms may include stomach pain, fever, nausea, or vomiting. Episodes often lasts from one to three days, but may be longer. Repeat episodes of pancreatitis leads to chronic pancreatitis (a constantly inflamed pancreas), calcium deposits in the pancreas, and over years, pancreas scarring. At this stage signs and symptoms may include fatty stool, weight loss, and protein and vitamin deficiencies. People with hereditary pancreatitis are also at an increased risk for type 1 diabetes and pancreatic cancer, typically in adulthood. In most cases, hereditary pancreatitis is caused by mutations in the PRSS1 gene and passed through families in an autosomal dominant pattern. While there is not a cure for hereditary pancreatitis, treatments are available (visit the Pancreas Foundation to learn more about treatment). With treatment people with hereditary pancreatitis tend to have a normal life expectancy. Last updated: 1/20/2016
MalaCards based summary: Pancreatitis, Hereditary, also known as hermansky-pudlak syndrome, is related to tropical calcific pancreatitis and chediak-higashi syndrome, and has symptoms including visual impairment, nystagmus and ocular albinism. An important gene associated with Pancreatitis, Hereditary is SPINK1 (Serine Peptidase Inhibitor, Kazal Type 1), and among its related pathways are Cobalamin (Cbl, vitamin B12) transport and metabolism and Protein digestion and absorption. Affiliated tissues include pancreas, skin and testes, and related mouse phenotypes are hearing/vestibular/ear and no phenotypic analysis.
Disease Ontology:11 An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
Genetics Home Reference:25 Hereditary pancreatitis is a genetic condition characterized by recurrent episodes of inflammation of the pancreas (pancreatitis). The pancreas produces enzymes that help digest food, and it also produces insulin, a hormone that controls blood sugar levels in the body. Episodes of pancreatitis can lead to permanent tissue damage and loss of pancreatic function.
CDC:2 Infection with hantavirus can progress to Hantavirus Pulmonary Syndrome (HPS), which can be fatal. People become infected through contact with hantavirus-infected rodents or their urine and droppings. The Sin Nombre hantavirus, first recognized in 1993, is one of several New World hantaviruses circulating in the US. Old World hantaviruses, found in Asia, can cause Hemorrhagic Fever with Renal Syndrome (HFRS). Rodent control in and around the home remains the primary strategy for preventing hantavirus infection. All cases of Hantavirus infection are reported to the CDC.
UniProtKB/Swiss-Prot:69 Pancreatitis, hereditary: A disease characterized by pancreas inflammation, permanent destruction of the pancreatic parenchyma, maldigestion, and severe abdominal pain attacks.
Wikipedia:70 Hereditary pancreatitis (HP) is an inflammation of the pancreas, attributed to genetic causes. It was... more...
Description from OMIM:51 167800
GeneReviews for NBK1287
Human phenotypes related to Pancreatitis, Hereditary:63 53 (show all 59)
UMLS symptoms related to Pancreatitis, Hereditary:achromia of skin, pruritus, abdominal pain
Drugs for Pancreatitis, Hereditary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 210)
Interventional clinical trials:(show top 50) (show all 168)
Search NIH Clinical Center for Pancreatitis, Hereditary
MalaCards organs/tissues related to Pancreatitis, Hereditary:35
Pancreas, Skin, Testes, Bone, Pancreatic islet, Neutrophil, Myeloid
MGI Mouse Phenotypes related to Pancreatitis, Hereditary:40
Articles related to Pancreatitis, Hereditary:
UniProtKB/Swiss-Prot genetic disease variations for Pancreatitis, Hereditary:69 (show all 25)
Clinvar genetic disease variations for Pancreatitis, Hereditary:5 (show all 90)
Copy number variations for Pancreatitis, Hereditary from CNVD:6
Search GEO for disease gene expression data for Pancreatitis, Hereditary.
Pathways related to Pancreatitis, Hereditary according to GeneCards Suite gene sharing:
Cellular components related to Pancreatitis, Hereditary according to GeneCards Suite gene sharing:
Biological processes related to Pancreatitis, Hereditary according to GeneCards Suite gene sharing:(show all 11)
Molecular functions related to Pancreatitis, Hereditary according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet