PXEL-MCFD
MCID: PSD059
MIFTS: 29

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 57 73 29 13 6 39
Pxe-Like Disorder with Multiple Coagulation Factor Deficiency 57 73
Body Skin Hyperlaxity Due to Vitamin K-Dependent Coagulation Factor Deficiency 58
Pseudoxanthoma Elasticum-Like Syndrome 58
Pxe-Like Syndrome 58
Pxel-Mcfd 73

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
Onset and clinical course young adult onset


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 610842
ICD10 via Orphanet 33 D68.4
UMLS via Orphanet 72 C1835813
Orphanet 58 ORPHA91135
MedGen 41 C1835813

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

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). Affiliated tissues include skin and neutrophil, and related phenotypes are redundant skin and abnormality of coagulation

More information 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 11.2
2 thalassemia 10.4
3 beta-thalassemia 10.4
4 hemoglobinopathy 10.4
5 acquired pseudoxanthoma elasticum 10.3
6 sickle cell anemia 10.1
7 aortic aneurysm 10.1
8 intermediate coronary syndrome 10.1
9 pseudoxanthoma elasticum 10.0

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:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 redundant skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001582
2 abnormality of coagulation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001928
3 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
4 abnormal bleeding 58 31 frequent (33%) Frequent (79-30%) HP:0001892
5 atherosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0002621
6 angioid streaks of the fundus 58 31 very rare (1%) Frequent (79-30%) HP:0001102
7 dilatation of the cerebral artery 58 31 very rare (1%) Very rare (<4-1%) HP:0004944
8 yellow papule 31 very rare (1%) HP:0025507
9 retinal peau d'orange 31 very rare (1%) HP:0033027
10 cutis laxa 58 31 Very frequent (99-80%) HP:0000973
11 epistaxis 31 HP:0000421
12 prolonged prothrombin time 31 HP:0008151
13 reduced factor ix activity 31 HP:0011858
14 reduced factor vii activity 31 HP:0008169
15 reduced factor x activity 31 HP:0008321

Clinical features from OMIM®:

610842 (Updated 05-Mar-2021)

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:

40
Skin, Neutrophil

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

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

(show all 14)
# Title Authors PMID Year
1
Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. 6 57
18800149 2009
2
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. 57 6
17110937 2007
3
[Generalized pseudoxanthoma elasticum combined with vitamin K dependent clotting factors deficiency]. 57 6
9615107 1996
4
Generalized pseudoxanthoma elasticum with deficiency of vitamin K-dependent clotting factors. 57
2808851 1989
5
Pseudoxanthoma elasticum and a coagulation defect. 57
5548470 1971
6
β-Thalassemia and ocular implications: a systematic review. 61
27390837 2016
7
[Pseudoxanthoma elasticum-like disease with deficiency of vitamin K-dependent clotting factors and cutis laxa features]. 61
26944767 2016
8
The spectrum of ocular alterations in patients with β-thalassemia syndromes suggests a pathology similar to pseudoxanthoma elasticum. 61
24314836 2014
9
A quantitative approach to histopathological dissection of elastin-related disorders using multiphoton microscopy. 61
23662922 2013
10
Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders? 61
21964806 2011
11
Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome. 61
20368697 2010
12
Pseudoxanthoma-elasticum-like syndrome and thalassemia: an update. 61
19903435 2009
13
Unstable angina associated with coronary arterial calcification in a thalassemia intermedia patient with a pseudoxanthoma elasticum-like syndrome. 61
12631261 2003
14
Neutrophil elastase in patients with homozygous beta-thalassemia and pseudoxanthoma elasticum-like syndrome. 61
10629570 2000

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

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

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GGCX GGCX, GLY537TYR Variation Pathogenic 16203
2 GGCX NM_000821.7(GGCX):c.899C>T (p.Ser300Phe) SNV Pathogenic 16196 rs121909684 2:85780611-85780611 2:85553488-85553488
3 GGCX NM_000821.7(GGCX):c.896T>C (p.Phe299Ser) SNV Pathogenic 16199 rs121909677 2:85780614-85780614 2:85553491-85553491
4 GGCX NM_000821.7(GGCX):c.1672G>A (p.Gly558Arg) SNV Pathogenic 16200 rs121909678 2:85778671-85778671 2:85551548-85551548
5 GGCX NM_000821.7(GGCX):c.1478G>C (p.Trp493Ser) SNV Pathogenic 16201 rs121909679 2:85779066-85779066 2:85551943-85551943
6 GGCX NM_000821.7(GGCX):c.1120C>T (p.Gln374Ter) SNV Pathogenic 16202 rs121909680 2:85780390-85780390 2:85553267-85553267
7 GGCX NM_000821.7(GGCX):c.1426C>T (p.Arg476Cys) SNV Pathogenic 16204 rs121909681 2:85779552-85779552 2:85552429-85552429
8 GGCX NM_000821.7(GGCX):c.1427G>A (p.Arg476His) SNV Pathogenic 16205 rs121909682 2:85779551-85779551 2:85552428-85552428
9 GGCX NM_000821.7(GGCX):c.763G>A (p.Val255Met) SNV Pathogenic 16206 rs121909683 2:85781392-85781392 2:85554269-85554269
10 GGCX NM_000821.7(GGCX):c.1538G>A (p.Arg513Lys) SNV Pathogenic 995971 rs575528363 2:85779006-85779006 2:85551883-85551883
11 GGCX NM_000821.7(GGCX):c.1609G>T (p.Gly537Ter) SNV Pathogenic 995973 2:85778935-85778935 2:85551812-85551812

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

73
# 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

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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