Alstrom Syndrome

From Anvita Health Wiki

Contents 1 Pathology 2 Genetics 3 Laboratory 4 More General Terms 5 Additional Terms 6 Internet Database 7 References

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 manifestions:
• 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

Internet Database

OMIM: 203800
OMIM: 606844
Entrez gene: 7840

References

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

Alstrom syndrome