 Pseudoxanthoma Elasticum
"Pseudoxanthoma Elasticum" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE.
| Descriptor ID |
D011561
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| MeSH Number(s) |
C14.907.454.530 C15.378.463.515.530 C16.131.831.766 C16.320.850.750 C17.300.766 C17.800.804.766 C17.800.827.750
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| Concept/Terms |
Gronblad-Strandberg Syndrome- Gronblad-Strandberg Syndrome
- Gronblad Strandberg Syndrome
- Syndrome, Gronblad-Strandberg
- Groenblad-Strandberg Syndrome
Pseudoxanthoma Elasticum, Incomplete- Pseudoxanthoma Elasticum, Incomplete
- Elasticum, Incomplete Pseudoxanthoma
- Elasticums, Incomplete Pseudoxanthoma
- Incomplete Pseudoxanthoma Elasticum
- Incomplete Pseudoxanthoma Elasticums
- Pseudoxanthoma Elasticums, Incomplete
- Pseudoxanthoma Elasticum, Autosomal Dominant
- Pseudoxanthoma Elasticum, Forme Fruste
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Below are MeSH descriptors whose meaning is more general than "Pseudoxanthoma Elasticum".
Below are MeSH descriptors whose meaning is more specific than "Pseudoxanthoma Elasticum".
This graph shows the total number of publications written about "Pseudoxanthoma Elasticum" by people in this website by year, and whether "Pseudoxanthoma Elasticum" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2012 | 1 | 0 | 1 |
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Below are the most recent publications written about "Pseudoxanthoma Elasticum" by people in Profiles.
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Martin LJ, Lau E, Singh H, Vergnes L, Tarling EJ, Mehrabian M, Mungrue I, Xiao S, Shih D, Castellani L, Ping P, Reue K, Stefani E, Drake TA, Bostrom K, Lusis AJ. ABCC6 localizes to the mitochondria-associated membrane. Circ Res. 2012 Aug 17; 111(5):516-20.
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Li Q, Schumacher W, Jablonski D, Siegel D, Uitto J. Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene. Br J Dermatol. 2012 May; 166(5):1107-11.
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