Diseases of the digestive system
Disorders of gallbladder, biliary tract and pancreas
Autosomal dominant
1p36.21
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. [From Orphanet]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 167800.1 | United Arab Emirates | Female | Yes | Acute pancreatitis; Recurrent pancreatit... Acute pancreatitis; Recurrent pancreatitis; Obesity; Acanthosis nigricans; Type II diabetes mellitus  | NM_001379610.1:c.101A>G, NM_001379610.1:c.56-37T>C | Compound heterozygous | Autosomal, Recessive | Abass et al. 2022 |