Alstrom Syndrome

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Prevalence (%) of clinical parameters based on data from 2 references describing 243 individuals







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Nystagmus nervous 100 % 15795345 2014-01-29
Visual acuity decrease nervous 100 % 15795345 2014-01-29
Obesity multi 98 % 15795345 2014-01-29
Short stature skeletal 98 % 15795345 2014-01-29
Hyperinsulinemia circulatory 92 % 15795345 2014-01-29
Retinitis pigmentosa nervous 88 % 17594715 2014-01-29
Hearing loss nervous 84 % 17594715 2014-01-29
Hypogonadism reproductive 78 % 15795345 2014-01-29
Diabetes mellitus type 2 endocrine 63 % 17594715 2014-01-29
Hepatopathy digestive 61 % 17594715 2014-01-29
Increased blood transaminase circulatory 61 % 17594715 2014-01-29
Developmental delay nervous 60 % 17594715 2014-01-29
Dilated cardiomyopathy circulatory 59 % 17594715 2014-01-29
Cardiomyopathy circulatory 58 % 17594715 2014-01-29
Hypertension circulatory 58 % 17594715 2014-01-29
Hypercholesterolemia circulatory 54 % 17594715 2014-01-29
Hypertriglyceridemia circulatory 54 % 17594715 2014-01-29
Nephropathy urinary 49 % 15795345 2014-01-29
Otitis media lymphatic 40 % 15795345 2014-01-29
Muscle weakness skeletal 29 % 15795345 2014-01-29
Hypothyroidism endocrine 28 % 17594715 2014-01-29
Obstructive lung disease respiratory 24 % 15795345 2014-01-29
Steatosis digestive 23 % 15795345 2014-01-29
Asthma respiratory 19 % 15795345 2014-01-29
Sleep disturbances nervous 15 % 15795345 2014-01-29
Seizures nervous 12 % 15795345 2014-01-29



List of references:


New Alström syndrome phenotypes based on the evaluation of 182 cases.
Jan D Marshall, Roderick T Bronson, Gayle B Collin, Anne D Nordstrom, Pietro Maffei, Richard B Paisey, Catherine Carey, Seamus Macdermott, Isabelle Russell-Eggitt, Sarah E Shea, Judy Davis, Sebastian Beck, Gocha Shatirishvili, Cristina Maria Mihai, Maria Hoeltzenbein, Giovanni Battista Pozzan, Ian Hopkinson, Nicola Sicolo, Jürgen K Naggert, Patsy M Nishina,



Archives of internal medicine - Mar 2005



Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.
Jan D Marshall, Elizabeth G Hinman, Gayle B Collin, Sebastian Beck, Rita Cerqueira, Pietro Maffei, Gabriella Milan, Weidong Zhang, David I Wilson, Tom Hearn, Purificação Tavares, Roberto Vettor, Caterina Veronese, Mitchell Martin, W Venus So, Patsy M Nishina, Jürgen K Naggert,



Human mutation - Nov 2007