Chanarin-Dorfman Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases
Aliases & Descriptions for Chanarin-Dorfman Syndrome:
Orphanet epidemiological data:53
neutral lipid storage disease with ichthyosis:
Inheritance: Autosomal recessive
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases, Skin diseases
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism
NIH Rare Diseases:47 Chanarin-Dorfman syndrome is an inherited condition in which fats are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides. These fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. At birth, affected individuals usually present with dry, scaly skin. Additional features include an enlarged liver,cataracts, difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness, nystagmus, and mild intellectual disability. The signs and symptoms vary greatly among individuals with this condition. Some people may have ichthyosis only, while others may have problems affecting many areas of the body. This condition is caused by mutations in the ABHD5 gene and is inherited in an autosomal recessive pattern. Last updated: 4/22/2011
MalaCards based summary: Chanarin-Dorfman Syndrome, also known as triglyceride storage disease with impaired long-chain fatty acid oxidation, is related to neutral lipid storage disease with myopathy and ichthyosis, congenital, autosomal recessive 1, and has symptoms including sensorineural hearing impairment, dry skin and abnormality of lipid metabolism. An important gene associated with Chanarin-Dorfman Syndrome is ABHD5 (Abhydrolase Domain Containing 5), and among its related pathways are triacylglycerol biosynthesis and Adipogenesis. Affiliated tissues include skin, liver and eye, and related mouse phenotypes are liver/biliary system and integument.
Disease Ontology:11 A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.
Genetics Home Reference:25 Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides, and these fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. People with this condition also have dry, scaly skin (ichthyosis), which is usually present at birth. Additional features of this condition include an enlarged liver (hepatomegaly), clouding of the lens of the eyes (cataracts), difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness (myopathy), involuntary movement of the eyes (nystagmus), and mild intellectual disability.
UniProtKB/Swiss-Prot:69 Chanarin-Dorfman syndrome: An autosomal recessive inborn error of lipid metabolism with multisystemic accumulation of triglycerides although plasma concentrations are normal. Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay. The disorder presents at birth with generalized, fine, white scaling of the skin and a variable degree of erythema resembling non-bullous congenital ichthyosiform erythroderma.
Description from OMIM:51 275630
Human phenotypes related to Chanarin-Dorfman Syndrome:63 (show all 33)
UMLS symptoms related to Chanarin-Dorfman Syndrome:ataxia, hepatomegaly, muscle weakness
Drugs for Chanarin-Dorfman Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 8)
Interventional clinical trials:
Search NIH Clinical Center for Chanarin-Dorfman Syndrome
MalaCards organs/tissues related to Chanarin-Dorfman Syndrome:35
Skin, Liver, Eye, Skeletal muscle
Articles related to Chanarin-Dorfman Syndrome:(show all 35)
UniProtKB/Swiss-Prot genetic disease variations for Chanarin-Dorfman Syndrome:69
Clinvar genetic disease variations for Chanarin-Dorfman Syndrome:5
Search GEO for disease gene expression data for Chanarin-Dorfman Syndrome.
Pathways related to Chanarin-Dorfman Syndrome according to GeneCards Suite gene sharing:
Cellular components related to Chanarin-Dorfman Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Chanarin-Dorfman Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Chanarin-Dorfman Syndrome according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet