Search on: GRONBLAD-STRANDBERG SYNDROME 
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Descriptor English:   Pseudoxanthoma Elasticum 
Descriptor Spanish:   Seudoxantoma Elástico 
Descriptor Portuguese:   Pseudoxantoma Elástico 
Synonyms English:   Gronblad-Strandberg Syndrome  
Tree Number:   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
Definition English:   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. 
Indexing Annotation English:   in titles & translations use diacritic: Grönblad
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   11998 
Unique Identifier:   D011561 

Occurrence in VHL: 		 

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