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Chanarin-Dorfman Syndrome

A rare hereditary autosomal recessive lipid storage syndrome that is more common in persons of Middle Eastern descent. It is characterized by the appearance of lipid droplets in GRANULOCYTES and a variety of symptoms in multiple organs, including congenital ICTHYOSIS; SENSORUNEURAL HEARING LOSS, ocular abnormalities, FATTY LIVER and HEPATOMEGALY; ATAXIA; MYOPATHY, and INTELLECTUAL DISABILITY. Mutations in the ABHD5 gene have been identied. OMIM: 275630
Also Known As:
Chanarin-Dorfman disease; Dorfman Chanarin syndrome; Dorfman-Chanarin Syndrome; Ichthyosiform erythroderma with leukocyte vacuolation; Ichthyotic neutral lipid storage disease; Neutral Lipid Storage Disease With Ichthyosis; Neutral lipid storage myopathy; Triglyceride Storage Disease with Ichthyosis; Triglyceride storage disease with impaired long-chain fatty acid oxidation
Networked: 95 relevant articles (1 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Refsum Disease (Refsum's Disease)
2. Psoriasis (Pustulosis Palmaris et Plantaris)
3. Ichthyosis (Xeroderma)
4. Neutral Lipid Storage Disease with Myopathy
5. Inborn Genetic Diseases (Disease, Hereditary)

Experts

1. Akiyama, Masashi: 5 articles (02/2016 - 11/2003)
2. Yamaguchi, Tomohiro: 5 articles (01/2010 - 07/2004)
3. Tavian, Daniela: 4 articles (12/2019 - 09/2008)
4. Fischer, Judith: 4 articles (03/2019 - 05/2004)
5. Shimizu, Hiroshi: 4 articles (10/2010 - 11/2003)
6. Osumi, Takashi: 4 articles (06/2009 - 07/2004)
7. Moro, Laura: 3 articles (12/2019 - 12/2010)
8. Angelini, Corrado: 3 articles (01/2016 - 05/2008)
9. Elias, Peter M: 3 articles (03/2015 - 09/2006)
10. Brasaemle, Dawn L: 3 articles (08/2014 - 04/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Chanarin-Dorfman Syndrome:
1. LipidsIBA
2. Antimicrobial PeptidesIBA
3. S100 Calcium Binding Protein A7IBA
4. Triglycerides (Triacylglycerol)IBA
5. Proteins (Proteins, Gene)FDA Link
6. Systemic carnitine deficiencyIBA
02/01/2011 - "Although extensive molecular studies have been performed, there are only four types of genetically diagnosable LSMs: primary carnitine deficiency (PCD), multiple acyl-coenzyme A dehydrogenase deficiency (MADD), neutral lipid storage disease with ichthyosis, and neutral lipid storage disease with myopathy. "
10/01/2010 - "So far, causative genes have been identified in four different LSMs, comprising primary carnitine deficiency, multiple acyl-CoA dehydrogenase deficiency or glutaric aciduria type II, neutral lipid storage disease with ichthyosis, and neutral lipid storage disease with myopathy. "
12/01/2010 - "Genetic studies were performed to detect mutations in the SLC22A5 for primary carnitine deficiency, PNPLA2 for neutral lipid storage disease with myopathy, ABHD5 for neutral lipid storage disease with ichthyosis, ETFDH for multiple acyl-CoA dehydrogenation deficiency (MADD), and CPT2 for carnitine palmitoyltransferase II deficiency. "
03/01/2009 - "Causative genes have been identified only in four types of lipid storage myopathies (LSMs): SLC22A5 for primary carnitine deficiency (PCD); ETFA, ETFB, and ETFDH for multiple acyl-coenzyme A dehydrogenation deficiency (MADD); PNPLA2 for neutral lipid storage disease with myopathy (NLSDM); and ABHD5 for neutral lipid storage disease with ichthyosis. "
01/01/2016 - "We investigated the factors that regulate lipophagy in muscle biopsies from 6 patients with different types of LSM: 2 cases of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD), 1 case of primary carnitine deficiency (CD), 2 cases of neutral lipid storage myopathy (NLSD-M), 1 case of carnitine-palmitoyl-transferase-II (CPT) deficiency. "
7. HydrolasesIBA
8. Acyl Coenzyme A (Acyl CoA)IBA
9. Carnitine palmitoyl transferase 2 deficiencyIBA
10. Lipase (Acid Lipase)FDA Link

Therapies and Procedures

1. Liver Transplantation
2. Therapeutics
3. Anesthesia