Alstrom Syndrome

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We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)







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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,

Alström syndrome is a recessively inherited genetic disorder characterized by congenital retinal dystrophy that leads to blindness, hearing impairment, childhood obesity, insulin resistance, and type 2 diabetes mellitus. We provide new details on cardiologic, hepatic, gastrointestinal, urologic, pulmonary, and neurobehavioral phenotypes in Alström syndrome and describe the histopathologic findings in 5 individuals.

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,

Alström syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, with systemic fibrosis and multiple organ involvement, including retinal degeneration, hearing loss, childhood obesity, diabetes mellitus, dilated cardiomyopathy (DCM), urological dysfunction, and pulmonary, hepatic, and renal failure. We evaluated a large cohort of patients with Alström syndrome for mutations in the ALMS1 gene. In total, 79 disease-causing variants were identified, of which 55 are novel mutations. The variants are primarily clustered in exons 8, 10, and 16, although we also identified novel mutations in exons 12 and 18. Most alleles were identified only once (45/79), but several were found recurrently. Founder effects are likely in families of English and Turkish descent. We also identified 66 SNPs and assessed the functional significance of these variants based on the conserved identity of the protein and the severity of the resulting amino acid substitution. A genotype-phenotype association study examining 18 phenotypic parameters in a subset of 58 patients found suggestive associations between disease-causing variants in exon 16 and the onset of retinal degeneration before the age of 1 year (P = 0.02), the occurrence of urological dysfunction (P = 0.02), of DCM (P = 0.03), and of diabetes (P = 0.03). A significant association was found between alterations in exon 8 and absent, mild, or delayed renal disease (P = 0.0007). This data may have implications for the understanding of the molecular mechanisms of ALMS1 and provides the basis for further investigation of how alternative splicing of ALMS1 contributes to the severity of the disease.

Human mutation - Nov 2007