Preferred Label : Pseudoxanthoma elasticum;
Symbol : PXE;
CISMeF acronym : PXE;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Gronblad-strandberg syndrome;
Included titles and symbols : Pseudoxanthoma elasticum, modifier of severity of; Pxe, modifier of severity of;
Description : Pseudoxanthoma elasticum is an inherited multisystem disorder that is associated with
accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls,
and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions
of the posterior segment of the eye including peau d'orange, angioid streaks, and
choroidal neovascularizations, of the skin including soft, ivory colored papules in
a reticular pattern that predominantly affect the neck and large flexor surfaces,
and of the cardiovascular system with peripheral and coronary arterial occlusive disease
as well as gastrointestinal bleedings (summary by Finger et al., 2009). Generalized
arterial calcification of infancy-2 (GACI2; 614473) is an allelic disorder, also caused
by homozygous or compound heterozygous mutation in the ABCC6 gene; it has been suggested
that GACI and PXE represent 2 ends of a clinical spectrum of ectopic calcification
and other organ pathologies rather than 2 distinct disorders (Nitschke et al., 2012).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutations in the ATP-binding cassette, subfamily C, member 6 gene (ABCC6,
603234.0001);
Prefixed ID : #264800;
Origin ID : 264800;
UMLS CUI : C0033847;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
