Disease Information for Alstrom's syndrome

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Clinical Manifestations
Signs & Symptoms
Cardiomegaly/Heart dilatation
Nystagmus
Photophobia/Light sensitive
Vision Loss
Clinical Presentation & Variations
Presentation/Recurrent respiratory infections
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings - Increased
Insulin level (Lab)
Triglycerides (Lab)
Diagnostic Test Results
Electrodiagnosis
Electroretinal Studies Abnormal/ERG
Associated Diseases & Rule outs
Associated Disease & Complications
Alstrom's syndrome
Blindness
Cardiomyopathy, dilated
Cognitive/learning disability
Congestive heart failure
Deafness
Deafness, congenital
Deafness, sensorineural
Diabetes mellitus
Hyperlipidemia
Hypertriglyceridemia
Insulin resistance
Obesity
Obesity in Children
Retinal Degeneration/Dystrophy
Retinal Dysplasia
Secondary male hypogonadism
Diabetes mellitus/non-insulin dep/type II
Disease Mechanism & Classification
Class
CLASS/Endocrine gland (category)
CLASS/Pituitary gland involvement/disorder (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Hypogonadotrophic hypogonadism
Pathophysiology/Insulin resistant states
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Functional/physiologic (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Extremely rare disease
Definition

Alstrom Syndrome; ALMS

Discussion: Alstrom syndrome is a rare genetic disorder most often characterized by vision and hearing abnormalities, childhood obesity, diabetes mellitus, and slowly progressive kidney (renal) dysfunction (chronic nephropathy); Specific features vary from case to case; Additional features sometimes associated with Alstrom syndrome include disease of the heart muscle (cardiomyopathy), skin abnormalities and abnormalities affecting additional organ systems. Intelligence is not affected; Alstrom syndrome is inherited as an autosomal recessive trait.[NORD 2005}

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External Links Related to Alstrom's syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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