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Maturity-onset diabetes of the young (MODY) refers to any of several hereditary forms of diabetes mellitus caused by mutations in an autosomal dominant gene disrupting insulin production. [1] Along with neonatal diabetes , MODY is a form of the conditions known as monogenic diabetes.
Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration.
Transient neonatal diabetes mellitus (TNDM) is a form of neonatal diabetes presenting at birth that is not permanent.
Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. [1] In DM, muscles are often unable to relax after contraction. [1] Other manifestations may include cataracts, intellectual disability and heart conduction problems.
CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder.First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart defects, atresia of the nasal choanae, restricted growth or development, genital or urinary abnormalities, and ear abnormalities and deafness. [1]
The Major Diagnostic Categories (MDC) are formed by dividing all possible principal diagnoses (from ICD-9-CM) into 25 mutually exclusive diagnosis areas.MDC codes, like diagnosis-related group (DRG) codes, are primarily a claims and administrative data element unique to the United States medical care reimbursement system.
MODY 3 or HNF1A-MODY is a form of maturity-onset diabetes of the young.It is caused by mutations of the HNF1-alpha gene, a homeobox gene on human chromosome 12.This is the most common type of MODY in populations with European ancestry, [1] accounting for about 70% of all cases in Europe.
Type 2 diabetes makes up about 90% of cases of diabetes, with the other 10% due primarily to type 1 diabetes and gestational diabetes. [1] In type 1 diabetes, there is a lower total level of insulin to control blood glucose, due to an autoimmune -induced loss of insulin-producing beta cells in the pancreas .