Results 31 to 40 of about 2,469,352 (177)

New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome [PDF]

BMC Ophthalmology, 2022
Purpose Alström Syndrome (AS) is an autosomal recessive hereditary disease with the characteristics of multiorgan dysfunction. Due to the heterogeneity of clinical manifestations of AS, genetic testing is crucial for the diagnosis of AS.
Wan-Yu Cheng, Mei-Jiao Ma, Shi-Qin Yuan, Xiao-long Qi, Wei-Ning Rong, Xun-Lun Sheng   +5 more
doaj   +2 more sources

Phenoage and longitudinal changes on transthoracic echocardiography in Alström syndrome: a disease of accelerated ageing? [PDF]

Geroscience, 2023
Alström syndrome (AS) is an ultra-rare disorder characterised by early-onset multi-organ dysfunction, such as insulin resistance, obesity, dyslipidaemia, and renal and cardiovascular disease.
Patel L, Roy A, Alvior AMB, Yuan M, Baig S, Bunting KV, Hodson J, Gehmlich K, Lord JM, Geberhiwot T, Steeds RP.   +10 more
europepmc   +2 more sources

Infantile Dilated Cardiomyopathy in Alström Syndrome. [PDF]

Cureus
We report two cases of end-stage dilated cardiomyopathy as the initial manifestation of Alström syndrome (ALMS), in infants aged two and five months. This rare monogenic, autosomal, and recessive genetic condition is a multisystem disorder characterized ...
Van Huffel J, Derycke E, Detaille T, Moniotte S, Hubrechts J.   +4 more
europepmc   +2 more sources

Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy. [PDF]

Yonago Acta Med
Alström syndrome is a form of inherited obesity caused by a single gene abnormality and is inherited as an autosomal recessive trait. It is characterised by a variety of clinical manifestations, including progressive visual and hearing impairment, type 2
Hanaki K, Kinoshita T, Fujimoto M, Sonoyama-Kawashima Y, Kanzaki S, Namba N.   +5 more
europepmc   +2 more sources

Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy [PDF]

Orphanet Journal of Rare Diseases, 2022
Objective Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder that is caused by homozygous or compound heterozygous mutation in the ALMS1 gene. Dilated cardiomyopathy (DCM) is one of the well-recognized features of the syndrome ranging
Savas Dedeoglu, Elif Dede, Funda Oztunc, Asuman Gedikbasi, Gozde Yesil, Reyhan Dedeoglu   +5 more
doaj   +2 more sources

New variants of ALMS1 gene and familial Alström syndrome case series [PDF]

Brazilian Journal of Otorhinolaryngology
Objectives: To report two new variants of ALMS1 gene and to discuss the audiological evolution and clinical phenotype in two pairs of siblings with Alström syndrome.
Isabela Carvalho de Queiroz, Natália Carasek, Luiza Costa Villela Ferreira, Lucas Alves Teixeira Oliveira, Fernando Massa Correia, Thaís Gomes Abrahão Elias, Fayez Bahmad, Jr   +6 more
doaj   +2 more sources

Alström syndrome-wide clinical variability within the same variant: a case report and literature review. [PDF]

Front Pediatr
Background Alström disease is a rare disorder caused by various variants in the ALMS1 gene. It is characterised by multiorgan involvement, namely neurosensory deficits, endocrine and metabolic disturbances, cardiomyopathy, and hepatic and renal ...
Jecan-Toader D, Trifa A, Lucian B, Pop TL, Cainap SS.   +4 more
europepmc   +2 more sources

Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy. [PDF]

Dis Model Mech
Alström syndrome (AS), a multisystem disorder caused by biallelic ALMS1 mutations, features major early morbidity and mortality due to cardiac complications.
McKay EJ, Luijten I, Broadway-Stringer S, Thomson A, Weng X, Gehmlich K, Gray GA, Semple RK.   +7 more
europepmc   +2 more sources

Knowledge mapping of alström syndrome research: a bibliometric and visualization analysis based on WoS data from 2000 to 2025 [PDF]

Frontiers in Genetics
Alström syndrome (ALMS) is an ultra-rare autosomal recessive disorder caused by mutations in the ALMS1 gene, leading to a complex spectrum of multi-organ failure, including early-onset sensory loss, obesity, and cardiomyopathy.
Heng Zhang, Heng Zhang, Hang Fu, Xiaohui Sui, Shangan Si, Yuan Zhang, Kaifeng Li, Mengran Wang, Zhe Song, Yuxin Yang, Ziqi Liu, Guiju Zhang   +11 more
doaj   +2 more sources

A Case of Siblings with End-Stage Kidney Disease and Retinal Degeneration Suggestive of Partial Alström Syndrome.

Nephron
Introduction: Renal ciliopathy is a genetic disorder caused by abnormalities in primary cilia. Alström syndrome (AS) is a rare renal ciliopathy caused by mutations in the ALMS1 gene.
Shinkawa K, Ishii A, Kimura T, Toriu N, Nakagawa N, Wada T, Sakai K, Endo S, Yokoi H, Matsubara T, Kosaki K, Kosugi S, Yanagita M.   +12 more
europepmc   +2 more sources