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MODY8
MCID: MTR082
MIFTS: 38
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Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction (MODY8)
Categories:
Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 8, with Exocrine...
MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction:
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
onset of diabetes at less than 25 years of age HPO:31
maturity-onset diabetes of the young, type 8, with exocrine dysfunction:
Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Endocrine diseases |
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OMIM :
56
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. (609812)
MalaCards based summary : Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction, also known as mody8, is related to exocrine pancreatic insufficiency and maturity-onset diabetes of the young, and has symptoms including abdominal pain and diarrhea. An important gene associated with Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction is CEL (Carboxyl Ester Lipase), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Hepatic ABC Transporters. Affiliated tissues include pancreas, and related phenotypes are abdominal pain and abnormality of exocrine pancreas physiology Disease Ontology : 12 A maturity-onset diabetes of the young that has material basis in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13. UniProtKB/Swiss-Prot : 73 Maturity-onset diabetes of the young 8 with exocrine dysfunction: An autosomal dominant form of diabetes characterized by a primary defect in insulin secretion, exocrine pancreatic dysfunction, altered pancreatic morphology, recurrent abdominal pain, and fecal elastase deficiency. Disease onset is at less than 25 years of age. |
Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction:31
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:609812UMLS symptoms related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction:abdominal pain, diarrhea MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction:45
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MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction:40
Pancreas
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Articles related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction:(show all 15)
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Genes related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction (1 elite genes):(show all 12) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction:6
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Search
GEO
for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction.
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Pathways related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction according to GeneCards Suite gene sharing:
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Cellular components related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction according to GeneCards Suite gene sharing:
Biological processes related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction according to GeneCards Suite gene sharing:(show all 20)
Molecular functions related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction according to GeneCards Suite gene sharing:
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