PXEL-MCFD
MCID: PSD059
MIFTS: 30

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 74 29 13 6 40
Pxe-Like Disorder with Multiple Coagulation Factor Deficiency 57 74
Body Skin Hyperlaxity Due to Vitamin K-Dependent Coagulation Factor Deficiency 59
Pseudoxanthoma Elasticum-Like Syndrome 59
Pxe-Like Syndrome 59
Pxel-Mcfd 74

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
ICD10 via Orphanet 34 D68.4
UMLS via Orphanet 73 C1835813
Orphanet 59 ORPHA91135
MedGen 42 C1835813

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

UniProtKB/Swiss-Prot : 74 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 drugs Diphosphonates and Bone Density Conservation Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and retina, and related phenotypes are papule and redundant skin

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 11.5
2 thalassemia 10.5
3 beta-thalassemia 10.4
4 hemoglobinopathy 10.4
5 acquired pseudoxanthoma elasticum 10.3
6 sickle cell anemia 10.2
7 aortic aneurysm 10.2
8 intermediate coronary syndrome 10.2
9 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:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
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 abnormal bleeding 59 32 very rare (1%) Frequent (79-30%) HP:0001892
5 atherosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0002621
6 angioid streaks of the fundus 32 very rare (1%) HP:0001102
7 dilatation of the cerebral artery 59 32 very rare (1%) Very rare (<4-1%) HP:0004944
8 cutis laxa 59 32 Very frequent (99-80%) HP:0000973
9 epistaxis 32 HP:0000421
10 prolonged prothrombin time 32 HP:0008151
11 angioid streaks of the retina 59 Frequent (79-30%)
12 reduced factor x activity 32 HP:0008321
13 reduced factor vii activity 32 HP:0008169
14 reduced factor ix activity 32 HP:0011858

Clinical features from OMIM:

610842

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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Diphosphonates Phase 2
2 Bone Density Conservation Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Open-label Therapeutic Trial Evaluating the Efficacy and Safety of Neridronate (Nerixia®) in the Treatment of Osteoporosis in Patients With Thalassemia Major and Severe Thalassemia Intermedia. Completed NCT01140321 Phase 2 Neridronate

Search 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, Bone, Retina, 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. 8 71
18800149 2009
2
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. 8 71
17110937 2007
3
[Generalized pseudoxanthoma elasticum combined with vitamin K dependent clotting factors deficiency]. 8 71
9615107 1996
4
Generalized pseudoxanthoma elasticum with deficiency of vitamin K-dependent clotting factors. 8
2808851 1989
5
Pseudoxanthoma elasticum and a coagulation defect. 8
5548470 1971
6
β-Thalassemia and ocular implications: a systematic review. 38
27390837 2016
7
[Pseudoxanthoma elasticum-like disease with deficiency of vitamin K-dependent clotting factors and cutis laxa features]. 38
26944767 2016
8
The spectrum of ocular alterations in patients with β-thalassemia syndromes suggests a pathology similar to pseudoxanthoma elasticum. 38
24314836 2014
9
A quantitative approach to histopathological dissection of elastin-related disorders using multiphoton microscopy. 38
23662922 2013
10
Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders? 38
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. 38
20368697 2010
12
Pseudoxanthoma-elasticum-like syndrome and thalassemia: an update. 38
19903435 2009
13
Unstable angina associated with coronary arterial calcification in a thalassemia intermedia patient with a pseudoxanthoma elasticum-like syndrome. 38
12631261 2003
14
Neutrophil elastase in patients with homozygous beta-thalassemia and pseudoxanthoma elasticum-like syndrome. 38
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
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GGCX NM_000821.7(GGCX): c.899C> T (p.Ser300Phe) single nucleotide variant Pathogenic rs121909684 2:85780611-85780611 2:85553488-85553488
2 GGCX NM_000821.7(GGCX): c.896T> C (p.Phe299Ser) single nucleotide variant Pathogenic rs121909677 2:85780614-85780614 2:85553491-85553491
3 GGCX NM_000821.7(GGCX): c.1672G> A (p.Gly558Arg) single nucleotide variant Pathogenic rs121909678 2:85778671-85778671 2:85551548-85551548
4 GGCX NM_000821.7(GGCX): c.1478G> C (p.Trp493Ser) single nucleotide variant Pathogenic rs121909679 2:85779066-85779066 2:85551943-85551943
5 GGCX NM_000821.7(GGCX): c.1120C> T (p.Gln374Ter) single nucleotide variant Pathogenic rs121909680 2:85780390-85780390 2:85553267-85553267
6 GGCX GGCX, GLY537TYR undetermined variant Pathogenic
7 GGCX NM_000821.7(GGCX): c.1426C> T (p.Arg476Cys) single nucleotide variant Pathogenic rs121909681 2:85779552-85779552 2:85552429-85552429
8 GGCX NM_000821.7(GGCX): c.1427G> A (p.Arg476His) single nucleotide variant Pathogenic rs121909682 2:85779551-85779551 2:85552428-85552428
9 GGCX NM_000821.7(GGCX): c.763G> A (p.Val255Met) single nucleotide variant Pathogenic rs121909683 2:85781392-85781392 2:85554269-85554269

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

74
# 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....