Alstrom syndrome (OMIM 203800): a case report and literature review [PDF]
Orphanet Journal of Rare Diseases, 2007 Background Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss.
Hegele Robert A +6 more
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Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells. [PDF]
PLoS ONE, 2017 The Alstrom syndrome gene (ALMS1) is one of the largest disease associated genes identified today in the human genome and is implicated in cell cycle control, ciliogenesis, endosome recycling and intracellular transport mechanisms.
Katarina Braune +2 more
doaj +5 more sources
Advanced Chronic Kidney Disease (CKD) in a Patient With Alstrom Syndrome. [PDF]
CureusAlstrom syndrome is an autosomal recessive disease. It affects multiple systems, including cardiovascular, renal, endocrine, and eyes. Our patient is a 25-year-old female who presented with elevated creatinine. Her past medical history was significant for hypothyroidism, polycystic ovarian syndrome, blindness, cataracts, hearing loss, and heart ...
Ahmed M, Ahmed AR, Farman RA.
europepmc +5 more sources
Supportive care in a patient with Alstrom syndrome with hyperphenylalaninemia and sleep problems [PDF]
Clinical Case Reports, 2023 Alstrom syndrome is a rare genetic disorder with an autosomal recessive mutation in the ALMS1 gene. The disease's manifestations include ophthalmic problems, hearing loss, obesity, and cardiovascular disorders.
Shabnam Jalilolghadr +5 more
doaj +4 more sources
A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants [PDF]
BMC Ophthalmology, 2019 Background Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and type 2 diabetes.
Maria F. Shurygina +7 more
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8488 Sex-Specific Differences in an Alstrom Syndrome Mouse Model [PDF]
J Endocr SocAbstract Disclosure: Y. Carcamo-Bahena: None. J. Youn: None. E. Lartigue: None. S. Sisley: None. Background: Alström syndrome is a monogenic autosomal recessive disorder caused by loss of the ALMS1 gene that affects 1 in 1 million. Loss of a functional ALMS1 protein leads to global disorganization of microtubules. Patients
Y Carcamo-Bahena +3 more
europepmc +4 more sources
Alstrom syndrome in four sibs from northern Jordan [PDF]
Annals of Saudi Medicine, 2006 Hamamy Hanan +5 more
doaj +4 more sources
Alström syndrome caused by maternal uniparental disomy [PDF]
American Journal of Ophthalmology Case Reports, 2023 Purpose: To describe a case of Alström syndrome arising from maternal uniparental disomy. Observations: A 13-month-old boy with poor vision and nystagmus was diagnosed with Alström syndrome based on genetic testing that identified a homozygous pathogenic
Madeline Q.R. Lopour +5 more
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Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene [PDF]
Diabetology & Metabolic SyndromeBackground Alström syndrome is a serious monogenic rare disease with lacking systematic analyses of its endocrine and metabolic characteristics. Method Clinical data were obtained from Alström syndrome, and group comparison analyses were conducted. Whole
Huifang Peng +7 more
doaj +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
Afzal Ahmad +8 more
openalex +4 more sources