Maturity Onset Diabetes of the Young (MODY)

PathwayType: signaling

Organ: pancreas

Organ_System: endocrine system

CellType: insulin-secreting cell

Notes: Headnote: Maturity onset diabetes of young (MODY) is a monogenic autosomal dominant form of diabetes mellitus with the onset of the disease usualy before 25 years of age. The disease is due to a dysfunction of the pancreatic beta-cells characterized by non-ketotic diabetes and the absence of pancreatic auto-antibodies. It is frequently mistaken for type 1 or type 2 diabetes mellitus. The disease is rare and accounts for only 1-2% of all diabetes. Signaling description: There are 11 types of monogenic MODY. Specifically, MODY 1 is associated with a HNF4A mutation, whereas MODY 2 is associated with a GCK mutation and accounts for 30-50% of MODY cases. Further, MODY 3 is associated by a HNF1A mutation and also accounts for 30-50% of MODY cases. MODY 4 is associated with a PDX1 mutation, and MODY 5 is associated with a HNF1B mutation; while, MODY 6 is associated with a NEUROD1 mutation. Then, MODY 7 is associated with a KLF11 mutation and MODY 8 is associated with a bile salt dependent lipase (CEL) mutation (not shown). MODY 9 is associated with PAX4 mutation and MODY 10 is associated with INS mutation. Lastly, MODY 11 is associated with a mutation in the B-lymphocyte specific tyrosine kinase (BLK) (not shown). Outcome effects: Most of the described genes with mutations related to MODY encode transcription factors responsible for the development of pancreatic endocrine cells. GCK is an enzyme that phosphorylates glucose to glucose-6-phosphate as the rate-limiting step in glucose metabolism. Highlighted proteins: Entities with increased expression or activity are highlighted in red. Mutated genes: Mutated gene is shown in white-out style. References: 1). Attiya K., Sahar F (2012) Maturity-onset Diabetes of the Young (MODY) Genes: Literature Review.Clinical Practice 1(1): 4-11.

Description: Maturity onset diabetes of young (MODY) is a monogenic and autosomal dominant form of diabetes mellitus with the onset of the disease often before 25 years of age. Pathway is built manually using published studies.

NodeType: Pathway

Link: https://mammal-profservices.pathwaystudio.com/app/sd?urn=urn:agi-pathway:uuid-b9734d79-b7e8-4daa-a2e8-ba073376a369

PMID: 22654519

Source: Diseases

urn:agi-pathway:uuid-b9734d79-b7e8-4daa-a2e8-ba073376a369

PS:PathwayType

PS:Description

PS:Link

PS:CellType

PS:Organ_System

PS:PMID

PS:NodeType

PS:Notes

PS:Organ

PS:Source

PathwayType: signaling

Organ: pancreas

Organ_System: endocrine system

CellType: insulin-secreting cell

Notes: Headnote: Maturity onset diabetes of young (MODY) is a monogenic autosomal dominant form of diabetes mellitus with the onset of the disease usualy before 25 years of age. The disease is due to a dysfunction of the pancreatic beta-cells characterized by non-ketotic diabetes and the absence of pancreatic auto-antibodies. It is frequently mistaken for type 1 or type 2 diabetes mellitus. The disease is rare and accounts for only 1-2% of all diabetes. Signaling description: There are 11 types of monogenic MODY. Specifically, MODY 1 is associated with a HNF4A mutation, whereas MODY 2 is associated with a GCK mutation and accounts for 30-50% of MODY cases. Further, MODY 3 is associated by a HNF1A mutation and also accounts for 30-50% of MODY cases. MODY 4 is associated with a PDX1 mutation, and MODY 5 is associated with a HNF1B mutation; while, MODY 6 is associated with a NEUROD1 mutation. Then, MODY 7 is associated with a KLF11 mutation and MODY 8 is associated with a bile salt dependent lipase (CEL) mutation (not shown). MODY 9 is associated with PAX4 mutation and MODY 10 is associated with INS mutation. Lastly, MODY 11 is associated with a mutation in the B-lymphocyte specific tyrosine kinase (BLK) (not shown). Outcome effects: Most of the described genes with mutations related to MODY encode transcription factors responsible for the development of pancreatic endocrine cells. GCK is an enzyme that phosphorylates glucose to glucose-6-phosphate as the rate-limiting step in glucose metabolism. Highlighted proteins: Entities with increased expression or activity are highlighted in red. Mutated genes: Mutated gene is shown in white-out style. References: 1). Attiya K., Sahar F (2012) Maturity-onset Diabetes of the Young (MODY) Genes: Literature Review.Clinical Practice 1(1): 4-11.

Description: Maturity onset diabetes of young (MODY) is a monogenic and autosomal dominant form of diabetes mellitus with the onset of the disease often before 25 years of age. Pathway is built manually using published studies.

NodeType: Pathway

Link: https://mammal-profservices.pathwaystudio.com/app/sd?urn=urn:agi-pathway:uuid-b9734d79-b7e8-4daa-a2e8-ba073376a369

PMID: 22654519

Source: Diseases

urn:agi-pathway:uuid-b9734d79-b7e8-4daa-a2e8-ba073376a369

Maturity Onset Diabetes of the Young (MODY)

uuid-b9734d79-b7e8-4daa-a2e8-ba073376a369

Maturity Onset Diabetes of the Young (MODY)

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urn:agi-folder:endocrine_system

urn:agi-folder:diabetic_mellitus_syndromes

urn:agi-folder:maturity_onset_diabetes_of_the_young

urn:agi-folder:m

urn:agi-folder:endocrine_system

urn:agi-folder:diabetic_mellitus_syndromes

urn:agi-folder:maturity_onset_diabetes_of_the_young