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Prevalence (%) of clinical parameters based on data from 2 references describing 243 individuals
Add new symptom/sign to this disease
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 impairment |
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
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