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Pseudoxanthoma Elasticum MeSH Descriptor Data 2024


MeSH Heading
Pseudoxanthoma Elasticum
Tree 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
Unique ID
D011561
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D011561
Annotation
in titles & translations use diacritic: Grönblad
Scope Note
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.
Entry Term(s)
Groenblad-Strandberg Syndrome
Gronblad-Strandberg Syndrome
Pseudoxanthoma Elasticum, Autosomal Dominant
Pseudoxanthoma Elasticum, Forme Fruste
Pseudoxanthoma Elasticum, Incomplete
Date Established
1966/01/01
Date of Entry
1999/01/01
Revision Date
2015/06/18
Pseudoxanthoma Elasticum Preferred
Gronblad-Strandberg Syndrome Narrower
Pseudoxanthoma Elasticum, Incomplete Narrower
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