Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency

Preferred Label : Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pxe-like disorder with multiple coagulation factor deficiency;

Prefixed ID : #610842;

Details

Origin ID

610842;

UMLS CUI

C1835813;

Currated CISMeF NLP mapping
- Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency [ORDO Disease]
- pseudoxanthoma Elasticum-Like disorder with multiple coagulation factor deficiency [MeSH Supplementary Concept]
- pseudoxanthoma Elasticum-Like disorder with multiple coagulation factor deficiency [MeSH concept]
Genes related to phenotype
- Gamma-glutamyl carboxylase [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Angioid streaks of the fundus [HPO term]
- Atherosclerosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cutis laxa [HPO term]
- Epistaxis [HPO term]
- Prolonged prothrombin time [HPO term]
- Reduced factor IX activity [HPO term]
- Reduced factor VII activity [HPO term]
- Reduced factor X activity [HPO term]
- Retinal peau d'orange [HPO term]
- Yellow papule [HPO term]
- Young adult onset [HPO term]
- obsolete Reduced prothrombin activity [HPO term]
ORDO concept(s)
- Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency [ORDO Disease]
- pseudoxanthoma Elasticum-Like disorder with multiple coagulation factor deficiency [MeSH Supplementary Concept]
- pseudoxanthoma Elasticum-Like disorder with multiple coagulation factor deficiency [MeSH concept]

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