Alstrom Syndrome

Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.

Also Known As:

Networked: 6 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl)
2.	Retinal Degeneration
3.	Obesity
4.	Deafness (Deaf Mutism)
5.	Abdominal Obesity

Experts

1.	Körperich, Egbert J: 1 article (04/2010)
2.	Atar, Michael: 1 article (04/2010)
3.	Brunner, Sandra: 1 article (10/2008)
4.	Neidhardt, John: 1 article (10/2008)
5.	Travis, Alexander J: 1 article (10/2008)
6.	Luhmann, Ulrich F O: 1 article (10/2008)
7.	Rülicke, Thomas: 1 article (10/2008)
8.	Colman, Dvora: 1 article (10/2008)
9.	Feil, Silke: 1 article (10/2008)
10.	Grimm, Christian: 1 article (10/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Alstrom Syndrome:

1.	Glucose (Dextrose)FDA LinkGeneric 07/01/2003 - "The investigations demonstrated truncated obesity, sensorineural deafness and impaired glucose tolerance and Alstrom-syndrome was diagnosed. " 05/01/2004 - "Alstrom syndrome (ALMS) is a very rare genetic autosomal recessive disease, characterized by early-onset severe abdominal obesity, impaired glucose tolerance or type 2 diabetes with insulin resistance, acanthosis nigricans, hyperlipidemia, childhood progressive retinal degeneration or retinitis pigmentosa and neurosensory hearing loss or deafness, cardiomyopathy, and other endocrine disorders. "
2.	Meckel syndrome type 1IBA 10/01/2008 - "Ciliopathies include primary ciliary dyskinesia, polycystic kidney disease, Usher syndrome, nephronophthisis, Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome as well as some forms of retinal degenerations. " 01/01/2006 - "Recent evidence indicates that ciliary defects can lead to a broader set of developmental and adult phenotypes, with mutations in ciliary proteins now associated with nephronophthisis, Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome. "
3.	Proteins (Proteins, Gene)IBA 01/01/2006 - "Recent evidence indicates that ciliary defects can lead to a broader set of developmental and adult phenotypes, with mutations in ciliary proteins now associated with nephronophthisis, Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome. "
4.	OxidoreductasesIBA 04/01/2010 - "Such conditions, include cystic fibrosis, HIV/AIDS, leukaemia, Alstrom syndrome, hypophosphatasia, Prader-Willi syndrome, Tricho-dento-osseous syndrome, tuberous sclerosis, familial steroid dehydrogenase deficiency and epidermolysis bullosa. "
5.	Albright's hereditary osteodystrophyIBA 01/01/2008 - "We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome."
6.	Tricho-dento-osseous syndromeIBA 04/01/2010 - "Such conditions, include cystic fibrosis, HIV/AIDS, leukaemia, Alstrom syndrome, hypophosphatasia, Prader-Willi syndrome, Tricho-dento-osseous syndrome, tuberous sclerosis, familial steroid dehydrogenase deficiency and epidermolysis bullosa. "
7.	Cohen syndromeIBA 01/01/2008 - "We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome."
8.	Macrosomia obesity macrocephaly ocular abnormalitiesIBA 01/01/2008 - "We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome."