MCID: PSD059
MIFTS: 24

Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency

Categories: Genetic diseases, Skin diseases, Rare 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 57 75 29 13 6 40
Pxe-Like Disorder with Multiple Coagulation Factor Deficiency 57 75
Body Skin Hyperlaxity Due to Vitamin K-Dependent Coagulation Factor Deficiency 59
Pseudoxanthoma Elasticum-Like Syndrome 59
Pxe-Like Syndrome 59
Pxel-Mcfd 75

Characteristics:

Orphanet epidemiological data:

59
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:

32
pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 610842
Orphanet 59 ORPHA91135
ICD10 via Orphanet 34 D68.4
UMLS via Orphanet 74 C1835813
MedGen 42 C1835813

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

UniProtKB/Swiss-Prot : 75 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 and retina, and related phenotypes are cutis laxa and redundant skin

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 11.1
2 pseudoxanthoma elasticum 10.0
3 acquired pseudoxanthoma elasticum 10.0

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

Clinical features from OMIM:

610842

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

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cutis laxa 59 32 Very frequent (99-80%) HP:0000973
2 redundant skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001582
3 abnormality of coagulation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001928
4 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
5 abnormal bleeding 59 32 very rare (1%) Frequent (79-30%) HP:0001892
6 atherosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0002621
7 angioid streaks of the retina 59 Frequent (79-30%)
8 cerebral aneurysm 59 Very rare (<4-1%)
9 epistaxis 32 HP:0000421
10 angioid streaks of the fundus 32 very rare (1%) HP:0001102
11 reduced factor vii activity 32 HP:0008169
12 reduced factor x activity 32 HP:0008321
13 reduced factor ix activity 32 HP:0011858
14 reduced prothrombin activity 32 HP:0012201
15 dilatation of the cerebral artery 32 very rare (1%) HP:0004944

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 29 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:

41
Skin, Retina

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
Acquired Pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients. ( 12930400 )
2003

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:

75
# 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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74 UMLS via Orphanet
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