"Alstrom Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.
| Descriptor ID |
D056769
|
| MeSH Number(s) |
C10.500.300.099 C10.574.500.495.099 C10.668.829.800.300.099 C11.270.684.249 C16.131.077.245.063 C16.131.666.300.099 C16.320.184.063 C16.320.290.684.249 C16.320.400.375.099
|
| Concept/Terms |
Alstrom Syndrome- Alstrom Syndrome
- Syndrome, Alstrom
- Alström Syndrome
- Syndrome, Alström
- Alstrom-Hallgren Syndrome
- Alstrom Hallgren Syndrome
- Syndrome, Alstrom-Hallgren
- Alstrom's Syndrome
- Alstroms Syndrome
- Syndrome, Alstrom's
|
Below are MeSH descriptors whose meaning is more general than "Alstrom Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Alstrom Syndrome".
This graph shows the total number of publications written about "Alstrom Syndrome" by people in this website by year, and whether "Alstrom Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2017 | 3 | 0 | 3 |
| 2018 | 1 | 0 | 1 |
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Below are the most recent publications written about "Alstrom Syndrome" by people in Profiles.
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Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center. Mol Genet Metab. 2018 09; 125(1-2):181-191.
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A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome. Eur J Med Genet. 2018 Feb; 61(2):79-83.
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Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome. BMC Med Genet. 2017 07 19; 18(1):75.
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Kidney Transplantation in Alström Syndrome: Case Report. Transplant Proc. 2017 May; 49(4):733-735.