KEGG   DISEASE: Pseudoxanthoma elasticum
Entry
H00560                      Disease                                
Name
Pseudoxanthoma elasticum
  Subgroup
Pseudoxanthoma elasticum, forme fruste
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
Description
Pseudoxanthoma elasticum (PXE) is a multisystem genetic disorder characterized by aberrant mineralization of elastic fibers in connective tissue affecting the skin, eyes and the arterial blood vessels. The mutated gene is identified as ABCC6, an ATP-binding cassette transporter. Recently, mutations in the GGCX gene in a family with PXE-like phenotypes have been reported.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   Genetic disorders affecting dermal collagen, elastin or other matrix proteins
    EC40  Pseudoxanthoma elasticum
     H00560  Pseudoxanthoma elasticum
Pathway
hsa02010  ABC transporters
Gene
(PXE) ABCC6 [HSA:368] [KO:K05669]
(PXE) XYLT1 [HSA:64131] [KO:K00771]
(PXE) XYLT2 [HSA:64132] [KO:K00771]
(PXE-like) GGCX [HSA:2677] [KO:K10106]
Other DBs
ICD-11: EC40
ICD-10: Q82.8
MeSH: D011561
OMIM: 264800 177850 610842
Reference
  Authors
Li Q, Jiang Q, Pfendner E, Varadi A, Uitto J
  Title
Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.
  Journal
Exp Dermatol 18:1-11 (2009)
DOI:10.1111/j.1600-0625.2008.00795.x
Reference
PMID:16604369 (ABCC6)
  Authors
Bergen AA, Plomp AS, Hu X, de Jong PT, Gorgels TG
  Title
ABCC6 and pseudoxanthoma elasticum.
  Journal
Pflugers Arch 453:685-91 (2007)
DOI:10.1007/s00424-005-0039-0
Reference
PMID:16571645 (XYLT1, XYLT2)
  Authors
Schon S, Schulz V, Prante C, Hendig D, Szliska C, Kuhn J, Kleesiek K, Gotting C
  Title
Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course.
  Journal
J Med Genet 43:745-9 (2006)
DOI:10.1136/jmg.2006.040972
Reference
PMID:19116367 (GGCX)
  Authors
Li Q, Schurgers LJ, Smith AC, Tsokos M, Uitto J, Cowen EW
  Title
Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.
  Journal
Am J Pathol 174:534-40 (2009)
DOI:10.2353/ajpath.2009.080865
Reference
  Authors
Aessopos A, Farmakis D, Loukopoulos D
  Title
Elastic tissue abnormalities resembling pseudoxanthoma elasticum in beta thalassemia and the sickling syndromes.
  Journal
Blood 99:30-5 (2002)
DOI:10.1182/blood.V99.1.30
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