Overview
Gene (OMIM no.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) | |
Inheritance |
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Ocular features |
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Visual function |
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Systemic features |
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | |
Therapies under research |
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Further information |
Supporting Organisation
References
- Hearn, T. (2019) ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits. Journal of Molecular Medicine, 97 (1), pp.1–17
- Dotan, G., Khetan, V., Marshall, J.D., Affel, E., Armiger-George, D., Naggert, J.K., Collin, G.B. & Levin, A.V. (2017) Spectral-domain optical coherence tomography findings in Alström syndrome. Ophthalmic Genetics, 38 (5), pp.440–445
- Nasser, F., Weisschuh, N., Maffei, P., Milan, G., Heller, C., Zrenner, E., Kohl, S. & Kuehlewein, L. (2018) Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene. Acta Ophthalmologica, 96 (4), pp.e445–e454
- Xu Y, Guan L, Xiao X, et al. ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy. Clin Genet. 2016;89(4):442-447
- Girard D, Petrovsky N. Alström syndrome: insights into the pathogenesis of metabolic disorders. Nat Rev Endocrinol. 2011;7(2):77-88
- Michaud JL, Héon E, Guilbert F, et al. Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy. J Pediatr. 1996;128(2):225-229
- Marshall JD, Bronson RT, Collin GB, et al. New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med. 2005;165(6):675-683
- Marshall JD, Beck S, Maffei P, Naggert JK. Alström syndrome. Eur J Hum Genet. 2007;15(12):1193-1202
- Marshall JD, Maffei P, Collin GB, Naggert JK. Alström syndrome: genetics and clinical overview. Curr Genomics. 2011;12(3):225-235
- Romano S, Maffei P, Bettini V, et al. Alström syndrome is associated with short stature and reduced GH reserve. Clin Endocrinol (Oxf). 2013;79(4):529-536
- Hoffman JD, Jacobson Z, Young TL, Marshall JD, Kaplan P. Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs. Am J Med Genet A. 2005;135(1):96-98