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Descriptor English: Pseudoxanthoma Elasticum
Descriptor Spanish: Seudoxantoma Elástico
Descriptor seudoxantoma elástico
Entry term(s) pseudoxantoma elástico
síndrome de Grönblad-Strandberg
Scope note: Trastorno hereditario del tejido conectivo con extensa degeneración y calcificación del TEJIDO ELÁSTICO, principalmente en la piel, los ojos y los vasos. Exiten al menos dos formas, la autosómica recesiva y la autosómica dominante. Este trastorno se debe a mutaciones en alguno de los TRANSPORTADORES DE CASSETTE DE UNIÓN AL ATP. Las personas que padecen esta enfermedad están predispuestas a sufrir INFARTO DE MIOCARDIO y HEMORRAGIA GASTROINTESTINAL.
Descriptor Portuguese: Pseudoxantoma Elástico
Descriptor French: Pseudoxanthome élastique
Entry term(s): Elasticum, Incomplete Pseudoxanthoma
Elasticums, Incomplete Pseudoxanthoma
Groenblad-Strandberg Syndrome
Gronblad Strandberg Syndrome
Gronblad-Strandberg Syndrome
Incomplete Pseudoxanthoma Elasticum
Incomplete Pseudoxanthoma Elasticums
Pseudoxanthoma Elasticum, Autosomal Dominant
Pseudoxanthoma Elasticum, Forme Fruste
Pseudoxanthoma Elasticum, Incomplete
Pseudoxanthoma Elasticums, Incomplete
Syndrome, Gronblad-Strandberg
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
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D011561
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.
Annotation: in titles & translations use diacritic: Grönblad
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
DeCS ID: 11998
Unique ID: D011561
NLM Classification: WD 375
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1966/01/01
Date of Entry: 1999/01/01
Revision Date: 2015/06/18
Pseudoxanthoma Elasticum - Preferred
Concept UI M0017968
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.
Preferred term Pseudoxanthoma Elasticum
Gronblad-Strandberg Syndrome - Narrower
Concept UI M0017969
Preferred term Gronblad-Strandberg Syndrome
Entry term(s) Groenblad-Strandberg Syndrome
Gronblad Strandberg Syndrome
Syndrome, Gronblad-Strandberg
Pseudoxanthoma Elasticum, Incomplete - Narrower
Concept UI M0501068
Preferred term Pseudoxanthoma Elasticum, Incomplete
Entry term(s) Elasticum, Incomplete Pseudoxanthoma
Elasticums, Incomplete Pseudoxanthoma
Incomplete Pseudoxanthoma Elasticum
Incomplete Pseudoxanthoma Elasticums
Pseudoxanthoma Elasticum, Autosomal Dominant
Pseudoxanthoma Elasticum, Forme Fruste
Pseudoxanthoma Elasticums, Incomplete



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