Results 21 to 30 of about 2,469,352 (177)

Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis. [PDF]

J Med Genet, 2023
Background Alström syndrome (ALMS; #203800) is an ultrarare monogenic recessive disease. This syndrome is associated with variants in the ALMS1 gene, which encodes a centrosome-associated protein involved in the regulation of several ciliary and ...
Bea-Mascato B, Valverde D.
europepmc   +2 more sources

Musculoskeletal deformities of Alström syndrome-a review of 55 cases. [PDF]

Orphanet J Rare Dis
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.
Wanninayake S, Paisey R, Dabasia H, Cole A, Dawson C, Hiwot T.   +5 more
europepmc   +2 more sources

Neonatal-onset dilated cardiomyopathy as the initial manifestation of Alström syndrome: a case report [PDF]

Frontiers in Pediatrics
BackgroundObesity–retinopathy–diabetes syndrome, also known as Alström syndrome (AS), is an extremely rare autosomal recessive disorder caused by pathogenic variants in the Alström syndrome 1 (ALMS1) gene. Its estimated incidence is 1–9 cases per million,
Hua Wang, Hua Wang, Hua Wang, Wandong Ma, Jingshi Chen, Jingshi Chen, Jingshi Chen, Bo Li, Bo Li, Bo Li   +9 more
doaj   +2 more sources

Defining Puberty and Spectrum of Hypogonadism in Alström Syndrome.

J Clin Endocrinol Metab
Context Alström syndrome (AS) has been extensively studied for its multisystem organ manifestations. Primary gonadal failure is well described in humans, but little is known about the intricacies of puberty and true incidence of hypogonadism within this ...
Ali S, Zhang Q, Anwunah I, Baig S, Xavier GDS, Dawson C, Dassie F, Tang Y, Wang L, Chang G, Gleeson P, Warfield AT, Paisey R, Barrett TG, Maffei P, Wang X, Homer V, Kershaw M, Geberhiwot T.   +18 more
europepmc   +2 more sources

Effectiveness of the Dual GIP/GLP1-Agonist Tirzepatide in 2 Cases of Alström Syndrome, a Rare Obesity Syndrome.

J Clin Endocrinol Metab
Context Tirzepatide, a dual glucose-dependent insulinotropic peptide/glucagon-like peptide 1 (GIP/GLP1) receptor agonist, was recently approved for type 2 diabetes and weight management.
Ferch M, Peitsch I, Kautzky-Willer A, Greber-Platzer S, Stättermayer AF, Krebs M, Scherer T.   +6 more
europepmc   +2 more sources

Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features. [PDF]

Orphanet J Rare Dis
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 dysfunction ...
Huang Y, Wang L, Zhang Q, Gao S, Chang G, Yu T, Yao RE, Ding Y, Wang X.   +8 more
europepmc   +2 more sources

Ocular Characteristics and Genotype-Oriented Disease Spectrum of Alström Syndrome in Taiwan. [PDF]

Transl Vis Sci Technol
Purpose This study aimed to describe the ophthalmological features of Alström syndrome, a rare syndromic ciliopathy, and to delineate the genotype-associated disease spectrum. Methods Eight Taiwanese patients were recruited for this study.
Cheng CC, Lin CY, Ko TC, Huang YS, Huang CH, Yang CH, Ho TC, Chen PL, Chen TC.   +8 more
europepmc   +2 more sources

First live birth after <i>in vitro</i> fertilization in a woman with Alström syndrome: a case report. [PDF]

Front Reprod Health
Purpose Alström syndrome (AS) is an extremely rare, autosomal recessive genetic disorder. Fertility implications are particularly relevant for women affected by AS, and no cases of patients achieving pregnancy and live birth with in vitro fertilization ...
Carosso AR, Carosso M, Revelli A, Canosa S, Marozio L, Gennarelli G, Maffei P, Ditaranto S, Benedetto C.   +8 more
europepmc   +2 more sources

Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness [PDF]

Indian Journal of Clinical Biochemistry, 2015
Alstrom's syndrome (AS) is a rare autosomal recessive ciliopathic condition affecting 1:10,00,000 children. It's a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile blindness, obesity, insulin resistance, type 2 Diabetes mellitus, hypogonadism and sensorineural hearing loss. Till
Nutan Kamath, Nandini M, Charu Yadav
exaly   +3 more sources

Delayed Clinical Diagnosis of Alström Syndrome in a Resource-Limited Setting: A Case Report From Rural Pakistan. [PDF]

Cureus
Alström syndrome is a rare autosomal recessive ciliopathy characterized by progressive multisystem involvement, including retinal degeneration, sensorineural hearing loss, insulin resistance, cardiomyopathy, and chronic kidney disease. Diagnosis is often
Shahab S, Khan JA.
europepmc   +2 more sources