Alstrom Syndrome

Common Name(s)

Alstrom Syndrome

Alstršm syndrome is a rare condition that affects many body systems. The disorder is generally characterized by vision and hearing abnormalities, childhood obesity, diabetes mellitus, heart disease and slowly progressive kidney dysfunction which can lead to kidney failure.  Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life. Alstršm syndrome is caused by mutations in the ALMS1 gene. It is inherited in an autosomal recessive pattern. While there is no specific therapy for this condition, early diagnosis and intervention can moderate the progression and improve the longevity and quality of life for patients with the disease.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Alstrom Syndrome" for support, advocacy or research.

Alstrom Syndrome International

Alstrom Syndrome International's mission is to provide support, information, and coordination world-wide to families and professionals in order to treat and cure Alstrom Syndrome.

Last Updated: 21 Jun 2014

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Alstrom Syndrome" for support, advocacy or research.

Alstrom Syndrome International

Alstrom Syndrome International's mission is to provide support, information, and coordination world-wide to families and professionals in order to treat and cure Alstrom Syndrome.

http://www.alstrom.org

Last Updated: 21 Jun 2014

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Alstrom Syndrome" returned 35 free, full-text research articles on human participants. First 3 results:

Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome.
 

Author(s): Satoshi Katagiri, Kazutoshi Yoshitake, Masakazu Akahori, Takaaki Hayashi, Masaaki Furuno, Jo Nishino, Kazuho Ikeo, Hiroshi Tsuneoka, Takeshi Iwata

Journal:

 

No mutations associated with Alström syndrome (AS), a rare autosomal recessive disease, have been reported in the Japanese population. The purpose of this study was to investigate the genetic and clinical features of two brothers with AS in a consanguineous Japanese family.

Last Updated: 9 Dec 2013

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Novel ALMS1 mutations in Chinese patients with Alström syndrome.
 

Author(s): Xiaofang Liang, Hui Li, Huajin Li, Fei Xu, Fangtian Dong, Ruifang Sui

Journal:

 

Alström syndrome (AS) is a rare monogenic autosomal recessively inherited disorder characterized by cone rod dystrophy and multiple organ dysfunction. Mutations in the Alström syndrome 1 (ALMS1) gene have been found to be causative for AS. The purpose of this study was to identify ...

Last Updated: 19 Sep 2013

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Brain involvement in Alström syndrome.
 

Author(s): Valentina Citton, Angela Favaro, Vera Bettini, Joseph Gabrieli, Gabriella Milan, Nella Augusta Greggio, Jan D Marshall, Jürgen K Naggert, Renzo Manara, Pietro Maffei

Journal:

 

Alström Syndrome (AS) is a rare ciliopathy characterized by cone-rod retinal dystrophy, sensorineural hearing loss, obesity, type 2 diabetes mellitus and cardiomyopathy. Most patients do not present with neurological issues and demonstrate normal intelligence, although delayed psychomotor ...

Last Updated: 28 Feb 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Alstrom Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Alstrom syndrome (OMIM 203800): a case report and literature review.
 

Author(s): Tisha Joy, Henian Cao, Graeme Black, Rayaz Malik, Valentine Charlton-Menys, Robert A Hegele, Paul N Durrington

Journal:

 

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, ...

Last Updated: 11 Mar 2008

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical and Molecular Investigations Into Ciliopathies
 

Status: Recruiting

Condition Summary: Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

 

Last Updated: 14 Mar 2014

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