Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Coagulation defects, purpura and other haemorrhagic conditions

Other coagulation defects

Acquired coagulation factor deficiency

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

SNOMED-CT via HPO ⁶⁹ 258211005 12441001 249366005 more

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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

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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
1	pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	11.1
2	pseudoxanthoma elasticum	10.0
3	acquired pseudoxanthoma elasticum	10.0

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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

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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

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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

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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

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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 )	Hamlin N....Le Saux O.	2003

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

Genes related to Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GGCX	Gamma-Glutamyl Carboxylase	Protein Coding	1680.36	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	18800149 17110937 9615107

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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

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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.

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

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

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