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Alstrom Syndrome

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.
Also Known As:
Alstrom-Hallgren Syndrome; Alström Syndrome; Alstrom Hallgren Syndrome; Alstroms Syndrome; Syndrome, Alstrom; Syndrome, Alstrom's; Syndrome, Alstrom-Hallgren; Syndrome, Alström; Alstrom's Syndrome
Networked: 92 relevant articles (1 outcomes, 8 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Insulin Resistance
2. Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl)
3. Obesity
4. Hyperphagia (Overeating)
5. Type 2 Diabetes Mellitus (MODY)

Experts

1. Marshall, Jan D: 16 articles (01/2018 - 05/2002)
2. Naggert, Jürgen K: 12 articles (01/2018 - 05/2002)
3. Maffei, Pietro: 10 articles (01/2021 - 05/2002)
4. Collin, Gayle B: 8 articles (01/2015 - 05/2002)
5. Geberhiwot, Tarekegn: 5 articles (01/2022 - 06/2015)
6. Milan, Gabriella: 5 articles (01/2021 - 05/2010)
7. Favaretto, Francesca: 3 articles (01/2021 - 02/2012)
8. Valverde, Diana: 3 articles (01/2021 - 08/2015)
9. Vettor, Roberto: 3 articles (01/2021 - 02/2012)
10. Paisey, Richard: 3 articles (07/2017 - 01/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Alstrom Syndrome:
1. Growth Hormone (Somatotropin)IBA
2. Glucose (Dextrose)FDA LinkGeneric
3. setmelanotideIBA
4. Type 4 Melanocortin Receptor (Melanocortin-4 Receptor)IBA
5. Proteins (Proteins, Gene)FDA Link
6. Retinaldehyde (Retinal)IBA
7. Myosin Heavy Chains (Myosin Heavy Chain)IBA
8. Myosins (Myosin)IBA
9. Carrier Proteins (Binding Protein)IBA
10. setogepramIBA

Therapies and Procedures

1. Therapeutics
2. Heart-Lung Transplantation
3. Caloric Restriction
4. Cochlear Implantation
5. Renal Replacement Therapy (Therapies, Renal Replacement)