Alstrom syndrome

Pathology: (variable findings) 1) dilated cardiomyopathy 2) hepatic dysfunction 3) hypothyroidism 4) male hypogonadism 5) diabetes mellitus type 2 6) atherosclerosis 7) progressive cone-rod retinal dystrophy 8) neurosensory hearing loss 9) acanthosis nigricans Genetics: 1) autosomal recessive disorder 2) associated with mutations in ALMS1 gene Clinical manifestations: 1) childhood obesity 2) neurosensory deficits 3) sometimes associated with: a) short stature b) mild to moderate developmental delay Laboratory: (variable findings) 1) hyperinsulinemia 2) hyperglycemia 3) hyperlipidemia 4) liver function tests 5) thyroid function tests

General

endocrine disease genetic syndrome (multisystem disorder) metabolic disease

Database Correlations

OMIM correlations Entrez Gene 7840

References

Collin et al. Nature genetics 31:74-78, 2002 Hearn et al. Nature genetics 31:79-83, 2002