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PXEL-MCFD
MCID: PSD059
MIFTS: 29
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Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency (PXEL-MCFD)
Categories:
Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation...
MalaCards integrated aliases for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency:
Name: Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency
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73
29
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Characteristics:Orphanet epidemiological data:58
body skin hyperlaxity due to vitamin k-dependent coagulation factor deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy; HPO:31
pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency:
Inheritance autosomal recessive inheritance Classifications:
ICD10:
33
Orphanet: 58
Rare skin diseases |
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UniProtKB/Swiss-Prot :
73
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency: Characterized by hyperlaxity of the skin involving the entire body. Important phenotypic differences with classical PXE include much more severe skin laxity with spreading toward the trunk and limbs with thick, leathery skin folds rather than confinement to flexural areas, and no decrease in visual acuity. Moreover, detailed electron microscopic analyzes revealed that alterations of elastic fibers as well as their mineralization are slightly different from those in classic PXE.
MalaCards based summary : Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency, also known as pxe-like disorder with multiple coagulation factor deficiency, is related to pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa and thalassemia. An important gene associated with Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency is GGCX (Gamma-Glutamyl Carboxylase). The drug Diphosphonates has been mentioned in the context of this disorder. Affiliated tissues include skin, retina and neutrophil, and related phenotypes are papule and redundant skin
More information from OMIM:
610842
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Diseases related to Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency:
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Symptoms & Phenotypes for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation...
Human phenotypes related to Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency:58 31 (show all 14)
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Drugs & Therapeutics for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation...
Drugs for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency:40
Skin,
Retina,
Neutrophil
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Articles related to Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency:(show all 14)
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Genes related to Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency:6
UniProtKB/Swiss-Prot genetic disease variations for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency:73
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Search
GEO
for disease gene expression data for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency.
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