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MODY8
MCID: MTR082
MIFTS: 42
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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:57
Inheritance:
autosomal dominant
Miscellaneous:
onset of diabetes at less than 25 years of age HPO:32
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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UniProtKB/Swiss-Prot
:
75
Maturity-onset diabetes of the young 8 with exocrine dysfunction: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
MalaCards based summary : Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction, also known as mody8, is related to maturity-onset diabetes of the young and maturity-onset diabetes of the young, type 6, 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 Developmental Biology and fMLP Pathway. Affiliated tissues include pancreas and brain, and related phenotypes are abdominal pain and maturity-onset diabetes of the young 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.
Description from OMIM:
609812
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:609812Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction:32
UMLS 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:46
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MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction:41
Pancreas,
Brain
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Articles related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction:
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Genes related to Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction (1 elite genes): - 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:(show all 15)
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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:
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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