Results 1 to 10 of about 1,719 (151)

Alstrom syndrome (OMIM 203800): a case report and literature review [PDF]

Orphanet Journal of Rare Diseases, 2007
Abstract 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. Associated endocrinologic features include hyperinsulinemia, early-onset type 2
Joy, Tisha, Cao, Henian, Black, Graeme, Malik, Rayaz, Charlton-Menys, Valentine, Hegele, Robert A., Durrington, Paul N.   +6 more
openaire   +5 more sources

Advanced Chronic Kidney Disease (CKD) in a Patient With Alstrom Syndrome. [PDF]

Cureus
Alstrom 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   +3 more sources

8488 Sex-Specific Differences in an Alstrom Syndrome Mouse Model [PDF]

J Endocr Soc
Abstract 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
Carcamo-Bahena, Y, Youn, J, Lartigue, E, Sisley, S   +3 more
europepmc   +2 more sources

Alstrom syndrome: A case report.

Journal of Oral Science, 2001
Alstrom syndrome is a rare disorder characterized by early obesity, loss of central vision, diabetes mellitus, hearing loss and short stature. Previous studies, have reported no information regarding oral findings. This article describes oral findings in two cases of Alstrom syndrome.
F, Koray, C, Dorter, Y, Benderli, I, Satman, T, Yilmaz, N, Dinccag, K, Karsidag   +6 more
openaire   +3 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, Benedicta, D'Souza, Charu, Yadav, Ashish, Agarwal, Anand, Kumar, M, Nandini, Vivian, D'Souza, A M, Poornima, Nutan, Kamath   +8 more
openaire   +2 more sources

A Review of Alstrom Syndrome

Future Journal of Pharmaceuticals and Health Sciences, 2023
Alström disease is a condition of autosomal recessive trait disorders that are characterized. At the same time, cone-rod spinal muscular atrophy, hearing impairment, adolescent upper abdominal overweight, insulin sensitivity but also insulin production, insulin-dependent, hypercholesterolemia, present approximately through sexual maturity, myocardial ...
openaire   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Setmelanotide in Bardet‐Biedl Syndrome: A 52‐Week Comparison of Phase 3 Trial Participants With a Matched Registry Cohort

Obesity, Volume 34, Issue 3, Page 579-587, March 2026.
ABSTRACT Objective This analysis aimed to assess the efficacy of setmelanotide over 52 weeks in patients with Bardet‐Biedl syndrome (BBS) compared with an external natural history cohort from the international Clinical Registry Investigating BBS (CRIBBS).
Jesús Argente, Andrea M. Haqq, Jan Luca Schorfheide, Nicolas Touchot, Caroline Huber, Urs Wiedemann, Jeremy Pomeroy, on behalf of the Phase 3 BBS Trial Investigators, Wendy Chung, Karine Clément, Hélène Dollfus, Elizabeth Forsythe, Robert M. Haws, Gabriel Á. Martos‐Moreno, Christine Poitou, Jack A. Yanovski   +15 more
wiley   +1 more source

Alms1 KO Rat: A New Model of Cardiometabolic Syndrome With Spontaneous Hypertension

Acta Physiologica, Volume 242, Issue 3, March 2026.
ABSTRACT Alström syndrome 1 (ALMS1) is a protein linked to Alström syndrome, a rare genetic disorder characterized by obesity, insulin resistance, hyperinsulinemia, and hypertension. Genetic studies have further associated Alms1 with hypertension in human populations. However, the precise mechanisms by which ALMS1 regulates metabolic and cardiovascular
Ankita B. Jaykumar, Sumit R. Monu, Jiang Xu, Mariela Mendez, Xiao‐Ping Yang, Nour‐Eddine Rhaleb, Pablo A. Ortiz   +6 more
wiley   +1 more source

Targeted Next‐Generation Sequencing of the Leptin‐Melanocortin Pathway in Severe Obesity

Obesity, Volume 34, Issue 2, Page 499-511, February 2026.
ABSTRACT Objective Pathogenic variants in five established leptin‐melanocortin pathway genes (LEP, LEPR, MC4R, PCSK1, POMC) are associated with severe early‐onset obesity and are targets for emerging treatments. However, these variants are rare in these patients, suggesting the involvement of additional genes interacting with this pathway. Methods Next‐
Nathan Faccioli, Chrisitne Poitou, Mathieu Georget, Françoise Bertin, Ahlam Azar‐Kolakez, Claire Carette, Pauline Faucher, Blandine Gatta‐Cherifi, Julie Gonneau‐Lejeune, Agnès Linglart, Karine Clément, Johanne Le Beyec‐Le Bihan, Béatrice Dubern   +12 more
wiley   +1 more source