Providing information for patients and professionals on research and clinical care in genetic types of diabetes.

Diabetes Plus Severe Obesity

Obesity results in insulin resistance. A significant proportion of patients with type 2 diabetes are obese, with the associated insulin resistance contributing to their development of diabetes. There are well defined genetic syndromes associated with severe obesity and diabetes. These patients frequently have acanthosis nigricans, the cutaneous marker of severe insulin resistance. The severe obesity related conditions include:

  Alstrom Syndrome Bardet-Biedl Syndrome Prader-Wili Syndrome
Genetics Autosomal recessive
Unknown gene located on chromosome 2p
Autosomal recessive
4 known genes located on chromosomes 3,11,15,16
Similar phenotypes
Usually de novo
Loss of paternally derived 15q11-13
Key Features Retinitis pigmentosa
Childhood obesity
Acanthosis nigricans
Non insulin dependent diabetes
Sensorineural deafness
Retinitis Pigmentosa
Childhood obesity
Acanthosis nigricans
Non insulin dependent diabetes
Polydactyly
Mental retardation
Neonatal hypotonia
Hyperphagia
Childhood obesity
Mental retardation
Other features Cardiomyopathy
Nephropathy
Hypogonadism
Renal cysts
Renal failure
Non insulin dependent diabetes
Short stature
Small hands and feet
Hypogonadism
Small external genitalia