Supportive care in a patient with Alstrom syndrome with hyperphenylalaninemia and sleep problems. [PDF]
Clin Case Rep, 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.
Jalilolghadr S +5 more
europepmc +5 more sources
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.
Black, Graeme +6 more
core +11 more sources
Infant Alstrom syndrome diagnosed by a new gene mutation: a case report. [PDF]
J Int Med Res, 2023 Alstrom syndrome is a rare autosomal recessive disorder resulting from an ALMS1 gene mutation. Here, we present the clinical data of a case of an infant diagnosed with Alstrom syndrome through whole-exome sequencing.
Ye Y, Wang X, Li G, Xiao X, Ji X.
europepmc +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.
Chen, Rui +7 more
core +10 more sources
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 +6 more sources
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
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
Alström syndrome caused by maternal uniparental disomy. [PDF]
Am J Ophthalmol Case Rep, 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
Lopour MQR +5 more
europepmc +2 more sources
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 ...
Inusha Panigrahi +2 more
core +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 +10 more
europepmc +6 more sources