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GTR Home > Conditions/Phenotypes > Maturity-onset diabetes of the young type 8

Maturity-onset diabetes of the young type 8

Synonyms
Diabetes and pancreatic exocrine dysfunction; Diabetes mellitus MODY type 8; Diabetes-pancreatic exocrine dysfunction syndrome; Maturity-Onset Diabetes of the Young Type 8, with Exocrine Dysfunction

Summary

Maturity-onset diabetes of the young type 8 (MODY8) is characterized by onset of diabetes before age 25 years, with slowly progressive pancreatic exocrine dysfunction, fatty replacement of pancreatic parenchyma (lipomatosis), and development of pancreatic cysts. Patients do not present clinical signs of chronic pancreatitis (summary by Johansson et al., 2018). For a phenotypic description and discussion of genetic heterogeneity of MODY, see 606391. [from OMIM]

Available tests

30 tests are in the database for this condition.

Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BAL, BSDL, BSSL, CELL, CEase, FAP, FAPP, LIPA, MODY8, CEL
    Summary: carboxyl ester lipase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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