Alström syndrome: the journey to diagnosis [PDF]
Orphanet Journal of Rare DiseasesBackground Alström syndrome (AS) is a recessively inherited genetic condition which is ultra-rare and extremely complex. Symptoms include retinal dystrophy, nystagmus, photophobia, hearing loss, obesity, insulin resistance, diabetes and cardiomyopathy ...
Akshat Sinha +4 more
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Alstrom syndrome: A rare genetic disorder and its anaesthetic significance
Indian Journal of Anaesthesia, 2010 Alstrom syndrome is a rare autosomal recessive disorder that was first described in 1959, by Carl Henry Alstrom, characterised by multiorgan system involvement ranging from ocular, aural, endocrinal, hepatorenal, gastrointestinal, respiratory and cardiac
Akhilesh Tiwari +3 more
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MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome [PDF]
Case Reports in Genetics, 2011 There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of ...
Sheetal Sharda +2 more
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The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway. [PDF]
PLoS ONE, 2012 Alström syndrome (ALMS) is a progressive multi-systemic disorder characterized by cone-rod dystrophy, sensorineural hearing loss, childhood obesity, insulin resistance and cardiac, renal, and hepatic dysfunction. The gene responsible for Alström syndrome,
Gayle B Collin +6 more
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Musculoskeletal deformities of Alström syndrome-a review of 55 cases [PDF]
Orphanet Journal of Rare DiseasesIntroduction Alström syndrome (ALMS) is an ultra-rare metabolic disorder caused by biallelic loss-of-function in the Alms1 gene which encodes a ubiquitously expressed centrosomal protein of the primary cilium.
Subadra Wanninayake +5 more
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Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features [PDF]
Orphanet Journal of Rare DiseasesBackground Alström syndrome (ALMS) is a rare autosomal recessive multisystem disorder caused by biallelic pathogenic variants in the ALMS1 gene, characterized by progressive cone-rod dystrophy, early-onset obesity, cardiomyopathy, and multiorgan ...
Yiguo Huang +8 more
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135 Detecting Progression of Diffuse Interstitial Fibrosis in Alstrom Syndrome: Abstract 135 Table 1 [PDF]
Heart View, 2016 Introduction Alstrom Syndrome (ALMS) is a rare inherited disorder caused by a mutation in the ALMS1 gene. The syndrome is a multi-system disorder with exaggerated features of the metabolic syndrome and although rare, provides a monogenic model for end-organ fibrosis and as a paradigm for the effects of severe metabolic syndrome.
Shanat Baig +6 more
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High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease [PDF]
, 2015 Background: Patients with rare and ultra-rare diseases make heavy demands on the resources of both health and social services, but these resources are often used inefficiently due to delays in diagnosis, poor and fragmented care. We analysed the national
Stephanie Van Groenendael +8 more
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Indian Pediatrics Case ReportsBackground: Alstrom syndrome is a rare autosomal recessive multisystem disorder due to a mutation in the ALMS1 gene, characterized by various combinations of dilated cardiomyopathy (DCM), cone-rod dystrophy, hearing loss, childhood obesity, Type 2 ...
Vimalarani Arulselvam +2 more
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