Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 25/07/2006

Symbol	DIDAN
Location	3p25
Name	insulin dependent diabetes mellitus with acanthosis nigricans
Corresponding gene	PPARG
Main clinical features	severe insulin resistance, and hypertension
Genetic determination	autosomal dominant
Function/system disorder	metabolism/carbohydrates
	cardiovascular
Type	disease

Gene product

Name	peroxisome proliferator-activated receptor

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types		abnormal protein/loss of function	resulting in insulin resistance, diabetes, hypertension

Remark(s)

dominant negative mutations, or mutation of both PPARG and PP1R3A