Alstrom syndrome

Pathology

(variable findings)

• dilated cardiomyopathy
• hepatic dysfunction
• hypothyroidism
• male hypogonadism
• diabetes mellitus type 2
• atherosclerosis
• progressive cone-rod retinal dystrophy
• neurosensory hearing loss
• acanthosis nigricans

Genetics

• autosomal recessive disorder
• associated with mutations in ALMS1 gene

Clinical manifestations

• childhood obesity
• neurosensory deficits
• sometimes associated with:
  • short stature
  • mild to moderate developmental delay

Laboratory

(variable findings)

• hyperinsulinemia
• hyperglycemia
• hyperlipidemia
• liver function tests
• thyroid function tests

More general terms

• genetic syndrome (multisystem disorder)
• metabolic disease
• endocrine disease

Additional terms

• ALMS1 gene

Patient information

Alstrom syndrome patient information

Database

• OMIM: https://mirror.omim.org/entry/203800
• OMIM: https://mirror.omim.org/entry/606844
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7840