eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | ichthyosis |
| Comorbidity | C0268238|neutral lipid storage disease |
| Sentences | 6 |
| PubMedID- 20022472 | Background: dorfman-chanarin syndrome (dcs), also referred to as neutral lipid storage disease with ichthyosis, is a rare autosomal recessive form of nonbullous congenital ichthyosiform erythroderma, characterized by the presence of intracellular lipid droplets in multiorgans. |
| PubMedID- 21314018 | 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. |
| PubMedID- 25300978 | We discuss known inborn errors of ctgm, including deficiencies of: agpat2 (a form of generalized lipodystrophy), lpin1 (childhood rhabdomyolysis), lpin2 (an inflammatory condition, majeed syndrome, described elsewhere in this issue), dgat1 (protein loosing enteropathy), perilipin 1 (partial lipodystrophy), cgi-58 (gene abhd5, neutral lipid storage disease (nlsd) with ichthyosis and "jordan's anomaly" of vacuolated polymorphonuclear leukocytes), adipose triglyceride lipase (atgl, gene pnpla2, nlsd with myopathy, cardiomyopathy and jordan's anomaly), hormone-sensitive lipase (hsl, gene lipe, hypertriglyceridemia, and insulin resistance). |
| PubMedID- 26520282 | Chanarin-dorfman syndrome, a "neutral lipid storage disease with ichthyosis," is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in various types of cells. |
| PubMedID- 20023287 | This mechanism may also underlie the pathogenesis of ichthyosis in neutral lipid storage disease patients lacking functional cgi-58. |
| PubMedID- 21046290 | 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. |
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