PXEL-MCFD
MCID: PSD059
MIFTS: 27

Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency (PXEL-MCFD)

Categories: Genetic diseases, Rare diseases, Skin diseases

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 58 76 30 13 6 41
Pxe-Like Disorder with Multiple Coagulation Factor Deficiency 58 76
Body Skin Hyperlaxity Due to Vitamin K-Dependent Coagulation Factor Deficiency 60
Pseudoxanthoma Elasticum-Like Syndrome 60
Pxe-Like Syndrome 60
Pxel-Mcfd 76

Characteristics:

Orphanet epidemiological data:

60
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:

33
pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 610842
ICD10 via Orphanet 35 D68.4
UMLS via Orphanet 75 C1835813
Orphanet 60 ORPHA91135
MedGen 43 C1835813

Summaries for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation...

UniProtKB/Swiss-Prot : 76 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 pseudoxanthoma elasticum. An important gene associated with Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency is GGCX (Gamma-Glutamyl Carboxylase). Affiliated tissues include skin, retina and neutrophil, and related phenotypes are redundant skin and papule

Description from OMIM: 610842

Related Diseases for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation...

Diseases related to Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa 11.3
2 pseudoxanthoma elasticum 10.6
3 thalassemia 10.5
4 beta-thalassemia 10.3
5 acquired pseudoxanthoma elasticum 10.2

Graphical network of the top 20 diseases related to Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency:



Diseases related to Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency

Symptoms & Phenotypes for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation...

Human phenotypes related to Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 redundant skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0001582
2 papule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200034
3 abnormality of coagulation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001928
4 abnormal bleeding 60 33 very rare (1%) Frequent (79-30%) HP:0001892
5 atherosclerosis 60 33 frequent (33%) Frequent (79-30%) HP:0002621
6 angioid streaks of the fundus 33 very rare (1%) HP:0001102
7 dilatation of the cerebral artery 60 33 very rare (1%) Very rare (<4-1%) HP:0004944
8 cutis laxa 60 33 Very frequent (99-80%) HP:0000973
9 epistaxis 33 HP:0000421
10 prolonged prothrombin time 33 HP:0008151
11 angioid streaks of the retina 60 Frequent (79-30%)
12 reduced factor ix activity 33 HP:0011858
13 reduced factor vii activity 33 HP:0008169
14 reduced factor x activity 33 HP:0008321

Clinical features from OMIM:

610842

Drugs & Therapeutics for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation...

Search Clinical Trials , NIH Clinical Center for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency

Genetic Tests for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation...

Genetic tests related to Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency:

# Genetic test Affiliating Genes
1 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 30 GGCX

Anatomical Context for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation...

MalaCards organs/tissues related to Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency:

42
Skin, Retina, Neutrophil

Publications for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation...

Articles related to Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency:

# Title Authors Year
1
Pseudoxanthoma elasticum-like syndrome in a patient with sickle cell anaemia. ( 19538525 )
2010
2
Pseudoxanthoma-elasticum-like syndrome and thalassemia: an update. ( 19903435 )
2009
3
Aneurysmatic dilatation of ascending aorta in a patient with beta-thalassemia and a pseudoxanthoma elasticum-like syndrome. ( 15014899 )
2004
4
Acquired Pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients. ( 12930400 )
2003
5
Unstable angina associated with coronary arterial calcification in a thalassemia intermedia patient with a pseudoxanthoma elasticum-like syndrome. ( 12631261 )
2003
6
Neutrophil elastase in patients with homozygous beta-thalassemia and pseudoxanthoma elasticum-like syndrome. ( 10629570 )
2000

Variations for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation...

UniProtKB/Swiss-Prot genetic disease variations for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency:

76
# Symbol AA change Variation ID SNP ID
1 GGCX p.Phe299Ser VAR_032979 rs121909677
2 GGCX p.Arg476Cys VAR_032980 rs121909681
3 GGCX p.Arg476His VAR_032981 rs121909682
4 GGCX p.Trp493Ser VAR_032982 rs121909679
5 GGCX p.Gly558Arg VAR_032983 rs121909678

ClinVar genetic disease variations for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 GGCX NM_000821.6(GGCX): c.899C> T (p.Ser300Phe) single nucleotide variant Pathogenic rs121909684 GRCh37 Chromosome 2, 85780611: 85780611
2 GGCX NM_000821.6(GGCX): c.899C> T (p.Ser300Phe) single nucleotide variant Pathogenic rs121909684 GRCh38 Chromosome 2, 85553488: 85553488
3 GGCX NM_000821.6(GGCX): c.896T> C (p.Phe299Ser) single nucleotide variant Pathogenic rs121909677 GRCh37 Chromosome 2, 85780614: 85780614
4 GGCX NM_000821.6(GGCX): c.896T> C (p.Phe299Ser) single nucleotide variant Pathogenic rs121909677 GRCh38 Chromosome 2, 85553491: 85553491
5 GGCX NM_000821.6(GGCX): c.1672G> A (p.Gly558Arg) single nucleotide variant Pathogenic rs121909678 GRCh37 Chromosome 2, 85778671: 85778671
6 GGCX NM_000821.6(GGCX): c.1672G> A (p.Gly558Arg) single nucleotide variant Pathogenic rs121909678 GRCh38 Chromosome 2, 85551548: 85551548
7 GGCX NM_000821.6(GGCX): c.1478G> C (p.Trp493Ser) single nucleotide variant Pathogenic rs121909679 GRCh37 Chromosome 2, 85779066: 85779066
8 GGCX NM_000821.6(GGCX): c.1478G> C (p.Trp493Ser) single nucleotide variant Pathogenic rs121909679 GRCh38 Chromosome 2, 85551943: 85551943
9 GGCX NM_000821.6(GGCX): c.1120C> T (p.Gln374Ter) single nucleotide variant Pathogenic rs121909680 GRCh37 Chromosome 2, 85780390: 85780390
10 GGCX NM_000821.6(GGCX): c.1120C> T (p.Gln374Ter) single nucleotide variant Pathogenic rs121909680 GRCh38 Chromosome 2, 85553267: 85553267
11 GGCX GGCX, GLY537TYR undetermined variant Pathogenic
12 GGCX NM_000821.6(GGCX): c.1426C> T (p.Arg476Cys) single nucleotide variant Pathogenic rs121909681 GRCh37 Chromosome 2, 85779552: 85779552
13 GGCX NM_000821.6(GGCX): c.1426C> T (p.Arg476Cys) single nucleotide variant Pathogenic rs121909681 GRCh38 Chromosome 2, 85552429: 85552429
14 GGCX NM_000821.6(GGCX): c.1427G> A (p.Arg476His) single nucleotide variant Pathogenic rs121909682 GRCh37 Chromosome 2, 85779551: 85779551
15 GGCX NM_000821.6(GGCX): c.1427G> A (p.Arg476His) single nucleotide variant Pathogenic rs121909682 GRCh38 Chromosome 2, 85552428: 85552428
16 GGCX NM_000821.6(GGCX): c.763G> A (p.Val255Met) single nucleotide variant Pathogenic rs121909683 GRCh37 Chromosome 2, 85781392: 85781392
17 GGCX NM_000821.6(GGCX): c.763G> A (p.Val255Met) single nucleotide variant Pathogenic rs121909683 GRCh38 Chromosome 2, 85554269: 85554269

Expression for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation...

Search GEO for disease gene expression data for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency.

Pathways for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation...

GO Terms for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation...

Sources for Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation...

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75 UMLS via Orphanet
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