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Disease Pseudoxanthoma Elasticum

Name Pseudoxanthoma Elasticum
Synonyms Elasticum, Incomplete Pseudoxanthoma | Elasticums, Incomplete Pseudoxanthoma | Groenblad-Strandberg Syndrome | Gronblad Strandberg Syndrome | Gronblad-Strandberg Syndrome | GRONBLAD-STRANDBERG SYNDROME PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF, INCLUDED | Incomplete Pseudoxanthoma Elasticum | Incomplete Pseudoxanthoma Elasticums | Pseudoxanthoma Elasticum, Autosomal Dominant | Pseudoxanthoma Elasticum, Forme Fruste | PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED | Pseudoxanthoma Elasticum, Incomplete | Pseudoxanthoma Elasticums, Incomplete | PXE | PXE, MODIFIER OF SEVERITY OF, INCLUDED | Syndrome, Gronblad-Strandberg
Definition 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.
Categories Blood disease | Cardiovascular disease | Congenital abnormality | Connective tissue disease | Genetic disease (inborn) | Skin disease
MeSH® ID D011561
OMIM® IDs 177850 | 264800
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Top ↑ Ancestors

1. DiseasesCardiovascular Diseases Has associated chemicals Has associated genes Has associated exposure references Vascular Diseases Has associated chemicals Has associated genes Has associated exposure references Hemostatic Disorders Has associated chemicals Has associated genes Has associated exposure references Pseudoxanthoma Elasticum Has associated chemicals Has associated genes
2. DiseasesHemic and Lymphatic Diseases Has associated chemicals Has associated genes Has associated exposure references Hematologic Diseases Has associated chemicals Has associated genes Has associated exposure references Hemorrhagic Disorders Has associated chemicals Has associated genes Has associated exposure references Hemostatic Disorders Has associated chemicals Has associated genes Has associated exposure references Pseudoxanthoma Elasticum Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Skin Abnormalities Has associated chemicals Has associated genes Has associated exposure references Pseudoxanthoma Elasticum Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Pseudoxanthoma Elasticum Has associated chemicals Has associated genes
5. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Pseudoxanthoma Elasticum Has associated chemicals Has associated genes
6. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Abnormalities Has associated chemicals Has associated genes Has associated exposure references Pseudoxanthoma Elasticum Has associated chemicals Has associated genes
7. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Pseudoxanthoma Elasticum Has associated chemicals Has associated genes

Top ↑ Descendants

Pseudoxanthoma Elasticum Has associated chemicals Has associated genes
  Pseudoxanthoma Elasticum, Heterozygous
  Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency Has associated chemicals Has associated genes