PXE
MCID: PSD087
MIFTS: 65

Pseudoxanthoma Elasticum (PXE)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Pseudoxanthoma Elasticum

MalaCards integrated aliases for Pseudoxanthoma Elasticum:

Name: Pseudoxanthoma Elasticum 56 12 74 24 52 25 58 73 36 29 13 54 6 43 15 39 71
Pxe 56 24 52 25 58 73
Gronblad-Strandberg Syndrome 56 12 25 73 71
Pseudoxanthoma Elasticum, Modifier of Severity of 56 6
Gronblad-Strandberg-Touraine Syndrome 58 73
Groenblad-Strandberg Syndrome 25
Gronblad Strandberg Syndrome 52
Nevus Elasticus 71

Characteristics:

Orphanet epidemiological data:

58
pseudoxanthoma elasticum
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
incidence - 1 in 25,000-100,000
sex ratio - 2 females to 1 male
majority of cases diagnosed at age 10-15 years
see for description of heterozygous phenotype


HPO:

31
pseudoxanthoma elasticum:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare renal diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Pseudoxanthoma Elasticum

Genetics Home Reference : 25 Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers. Elastic fibers are a component of connective tissue, which provides strength and flexibility to structures throughout the body. In PXE, mineralization can affect elastic fibers in the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. People with PXE may have yellowish bumps called papules on their necks, underarms, and other areas of skin that touch when a joint bends (flexor areas). They may also have abnormalities in the eyes, such as a change in the pigmented cells of the retina (the light-sensitive layer of cells at the back of the eye) known as peau d'orange. Another eye abnormality known as angioid streaks occurs when tiny breaks form in the layer of tissue under the retina called Bruch's membrane. Bleeding and scarring of the retina may also occur, which can cause vision loss. Mineralization of the blood vessels that carry blood from the heart to the rest of the body (arteries) may cause other signs and symptoms of PXE. For example, people with this condition can develop narrowing of the arteries (arteriosclerosis) or a condition called claudication that is characterized by cramping and pain during exercise due to decreased blood flow to the arms and legs. Rarely, bleeding from blood vessels in the digestive tract may also occur.

MalaCards based summary : Pseudoxanthoma Elasticum, also known as pxe, is related to pseudoxanthoma elasticum-like papillary dermal elastolysis and arterial calcification of infancy, and has symptoms including angina pectoris An important gene associated with Pseudoxanthoma Elasticum is ABCC6 (ATP Binding Cassette Subfamily C Member 6), and among its related pathways/superpathways are ABC transporters and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Ranibizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and heart, and related phenotypes are retinopathy and skin rash

Disease Ontology : 12 A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.

NIH Rare Diseases : 52 Pseudoxanthoma elasticum , PXE, is an inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication ); or bleeding in the gastrointestinal tract , particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders , and by having regular physical examinations with their primary physician.

OMIM : 56 Pseudoxanthoma elasticum is an inherited multisystem disorder that is associated with accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Bruch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye, including peau d'orange, angioid streaks, and choroidal neovascularizations (CNVs); of the skin, including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces; and of the cardiovascular system, with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings (summary by Finger et al., 2009). Generalized arterial calcification of infancy-2 (GACI2; 614473) is an allelic disorder, also caused by homozygous or compound heterozygous mutation in the ABCC6 gene; it has been suggested that GACI and PXE represent 2 ends of a clinical spectrum of ectopic calcification and other organ pathologies rather than 2 distinct disorders (Nitschke et al., 2012). (264800)

KEGG : 36 Pseudoxanthoma elasticum (PXE) is a multisystem genetic disorder characterized by aberrant mineralization of elastic fibers in connective tissue affecting the skin, eyes and the arterial blood vessels. The mutated gene is identified as ABCC6, an ATP-binding cassette transporter. Recently, mutations in the GGCX gene in a family with PXE-like phenotypes has been reported.

UniProtKB/Swiss-Prot : 73 Pseudoxanthoma elasticum: A multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau d'orange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings.

Wikipedia : 74 Pseudoxanthoma elasticum (PXE) is a genetic disease that causes mineralization of elastic fibers in some... more...

GeneReviews: NBK1113

Related Diseases for Pseudoxanthoma Elasticum

Diseases in the Pseudoxanthoma Elasticum family:

Acquired Pseudoxanthoma Elasticum

Diseases related to Pseudoxanthoma Elasticum via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 293)
# Related Disease Score Top Affiliating Genes
1 pseudoxanthoma elasticum-like papillary dermal elastolysis 34.8 FBN1 ELN
2 arterial calcification of infancy 33.3 SPP1 MGP GGCX ENPP1 ANKH ABCC6
3 elastosis perforans serpiginosa 32.0 ELN ABCC6
4 angioid streaks 31.8 XYLT2 XYLT1 VKORC1 MGP GGCX ENPP1
5 cutis laxa 31.7 GGCX FBN1 ELN ABCC6
6 calciphylaxis 31.3 SPP1 MGP
7 mid-dermal elastolysis 31.3 FBN1 ELN
8 calcinosis 31.2 SPP1 MGP FBN1 ENPP1 ANKH
9 late-onset focal dermal elastosis 31.0 FBN1 ELN
10 arteriosclerosis 30.8 SPP1 MGP FBN1 ELN
11 vitamin k deficiency bleeding 30.8 VKORC1 MGP GGCX
12 brittle bone disorder 30.7 SPP1 FBN1 ELN
13 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency 13.0
14 pseudoxanthoma elasticum, forme fruste 12.8
15 acquired pseudoxanthoma elasticum 12.7
16 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa 12.5
17 arterial calcification, generalized, of infancy, 2 11.9
18 autosomal recessive disease 10.8
19 vascular disease 10.8
20 thalassemia 10.7
21 arterial calcification, generalized, of infancy, 1 10.6
22 connective tissue disease 10.6
23 pattern dystrophy 10.6
24 orthostatic intolerance 10.6
25 peripheral vascular disease 10.6
26 macular degeneration, age-related, 1 10.6
27 beta-thalassemia 10.6
28 hyperlipoproteinemia, type iii 10.6
29 lipoprotein quantitative trait locus 10.6
30 afferent loop syndrome 10.6 NOMO3 NOMO2
31 skin disease 10.6
32 chronic actinic dermatitis 10.5 FBN1 ELN
33 superficial urinary bladder cancer 10.5 NOMO3 NOMO2 NOMO1
34 splenic abscess 10.5 NOMO3 NOMO2 NOMO1
35 ulcerative stomatitis 10.5 NOMO3 NOMO2 NOMO1
36 familial abdominal aortic aneurysm 10.5 FBN1 ELN
37 bladder squamous cell carcinoma 10.5 NOMO3 NOMO2 NOMO1
38 hereditary combined deficiency of vitamin k-dependent clotting factors 10.5 VKORC1 GGCX
39 yemenite deaf-blind hypopigmentation syndrome 10.5
40 ehlers-danlos syndrome 10.5
41 optic disk drusen 10.5
42 intermittent claudication 10.5
43 ureteric orifice cancer 10.5 FBN1 ELN
44 dubin-johnson syndrome 10.5 ABCC6 ABCC2 ABCC1
45 supraglottis cancer 10.5 NOMO3 NOMO2
46 arteries, anomalies of 10.5
47 marfan syndrome 10.5
48 angina pectoris 10.5
49 peripheral artery disease 10.5
50 hemoglobinopathy 10.5

Graphical network of the top 20 diseases related to Pseudoxanthoma Elasticum:



Diseases related to Pseudoxanthoma Elasticum

Symptoms & Phenotypes for Pseudoxanthoma Elasticum

Human phenotypes related to Pseudoxanthoma Elasticum:

58 31 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 retinopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000488
2 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
3 thickened nuchal skin fold 58 31 hallmark (90%) Very frequent (99-80%) HP:0000474
4 arterial stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100545
5 abnormality of the cerebral vasculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0100659
6 retinal hemorrhage 58 31 hallmark (90%) Very frequent (99-80%) HP:0000573
7 excessive wrinkled skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0007392
8 angioid streaks of the fundus 31 very rare (1%) HP:0001102
9 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
10 striae distensae 58 31 frequent (33%) Frequent (79-30%) HP:0001065
11 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
12 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
13 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
14 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
15 hemiplegia/hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004374
16 pruritus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000989
17 subcutaneous nodule 58 31 occasional (7.5%) Occasional (29-5%) HP:0001482
18 telangiectasia of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0100585
19 acne 58 31 occasional (7.5%) Occasional (29-5%) HP:0001061
20 gastrointestinal hemorrhage 58 31 very rare (1%) Occasional (29-5%) HP:0002239
21 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
22 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
23 sudden cardiac death 58 31 occasional (7.5%) Occasional (29-5%) HP:0001645
24 multiple lipomas 58 31 occasional (7.5%) Occasional (29-5%) HP:0001012
25 mitral valve prolapse 58 31 very rare (1%) Occasional (29-5%) HP:0001634
26 angina pectoris 58 31 occasional (7.5%) Occasional (29-5%) HP:0001681
27 nephrocalcinosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000121
28 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
29 abnormality of the thorax 58 31 occasional (7.5%) Occasional (29-5%) HP:0000765
30 blue sclerae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000592
31 hyperextensible skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000974
32 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
33 atherosclerosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002621
34 restrictive cardiomyopathy 58 31 very rare (1%) Occasional (29-5%) HP:0001723
35 metamorphopsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012508
36 postural instability 58 31 occasional (7.5%) Occasional (29-5%) HP:0002172
37 renovascular hypertension 31 occasional (7.5%) HP:0100817
38 dilatation 31 occasional (7.5%) HP:0002617
39 abnormal thrombocyte morphology 31 occasional (7.5%) HP:0001872
40 abnormal endocardium morphology 31 occasional (7.5%) HP:0004306
41 congestive heart failure 31 very rare (1%) HP:0001635
42 reduced visual acuity 31 very rare (1%) HP:0007663
43 stroke 31 very rare (1%) HP:0001297
44 mitral stenosis 31 very rare (1%) HP:0001718
45 macular degeneration 31 very rare (1%) HP:0000608
46 cutis laxa 31 very rare (1%) HP:0000973
47 coronary artery atherosclerosis 31 very rare (1%) HP:0001677
48 intermittent claudication 31 very rare (1%) HP:0004417
49 choroidal neovascularization 31 very rare (1%) HP:0011506
50 decreased dlco 31 very rare (1%) HP:0045051

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
congestive heart failure
calcifications (atrial and ventricular endocardium)
mitral valve prolapse (uncommon)
mitral valve stenosis (uncommon)
restrictive cardiomyopathy (very rare)

Cardiovascular Vascular:
angina pectoris
accelerated atherosclerosis
coronary artery disease
intermittent claudication (30%)
renovascular hypertension (rare)
more
Head And Neck Eyes:
retinal hemorrhage
macular degeneration
choroidal neovascularization
central vision loss
peau d'orange retinal changes (yellow-mottled retinal hyperpigmentation)
more
Head And Neck Mouth:
mucosal pxe lesions (inner aspect lower lip, cheeks, and palate)

Genitourinary Bladder:
bladder hemorrhage

Abdomen Gastrointestinal:
gastrointestinal hemorrhage

Neurologic Central Nervous System:
stroke

Genitourinary Kidneys:
renal failure

Genitourinary Internal Genitalia Female:
uterine hemorrhage

Skin Nails Hair Skin:
progression of skin lesions -
1. yellowish, flat papules (neck, antecubital and popliteal fossae, axillae, inguinal, and periumbilical areas)
2. yellowish, flat plaques
3. lax, wrinkled skin
extrusion of calcium deposits ('perforating pxe')
more

Clinical features from OMIM:

264800

UMLS symptoms related to Pseudoxanthoma Elasticum:


angina pectoris

MGI Mouse Phenotypes related to Pseudoxanthoma Elasticum:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 ABCA4 ABCC1 ABCC2 ABCC6 ABCC8 ABCC9
2 cardiovascular system MP:0005385 10.02 ABCA4 ABCC6 ABCC9 ANKH ENPP1 FBN1
3 craniofacial MP:0005382 9.8 ABCC6 ANKH CFTR ENPP1 FBN1 SPP1
4 renal/urinary system MP:0005367 9.5 ABCC2 ABCC6 ENPP1 FBN1 MGP SPP1
5 skeleton MP:0005390 9.28 ABCA4 ANKH ENPP1 FBN1 GGCX MGP

Drugs & Therapeutics for Pseudoxanthoma Elasticum

Drugs for Pseudoxanthoma Elasticum (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4 347396-82-1 459903
2 Angiogenesis Inhibitors Phase 4
3
Magnesium oxide Approved Phase 2 1309-48-4 14792
4 Mitogens Phase 2
5 Endothelial Growth Factors Phase 2
6 Antacids Phase 2
7 Anti-Ulcer Agents Phase 2
8 Gastrointestinal Agents Phase 2
9 Magnesium Supplement Phase 2
10
Phylloquinone Approved, Investigational 84-80-0
11
Menadione Approved, Nutraceutical 58-27-5 4055
12 Menaquinone Investigational 1182-68-9
13 Calcium, Dietary
14 Fluorodeoxyglucose F18
15 Radiopharmaceuticals
16 Vitamins
17 naphthoquinone
18 Vitamin K
19 Vitamin K 2
20
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 A Study to Investigate the Safety and Efficacy of Lucentis (Ranibizumab) in Patients With CNV Due to Causes Other Than AMD and in Patients Where Pigment Epithelial Detachments Are the Primary Manifestation of Their AMD. Completed NCT01628354 Phase 4 Ranibizumab
2 Ranibizumab in Choroidal Neovascularization (CNV) Due to Pseudoxanthoma Elasticum (PXE, Groenblad-Strandberg-Syndrome) Completed NCT00510965 Phase 2 Intravitreal injection ranibizumab
3 Intravitreal Aflibercept (Eylea) for Therapy of Choroidal Neovascularization (CNV) and Fibrovascular Proliferation (FVP) in Patients With Pseudoxanthoma Elasticum (PXE) Completed NCT02537054 Phase 2 Aflibercept
4 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy With Intravitreal Injection of Lucentis (Ranibizumab Injection) Completed NCT00470977 Phase 1, Phase 2 ranibizumab injection (0.5 mg)
5 Magnesium Supplements In The Treatment Of Pseudoxanthoma Elasticum (PXE) Completed NCT01525875 Phase 2 Magnesium Oxide;Placebo
6 Oral Disodiumpyrophosphate (Na2H2PPi) Absorption in Pseudoxanthoma Elasticum (PXE) Not yet recruiting NCT04441671 Phase 2 Disodium Pyrophosphate
7 Phase II Study Evaluating the Efficacy of Aflibercept for the Treatment of Choroidal Neovascularization in Angioid Streaks in Young Patients. Withdrawn NCT02573038 Phase 2 Aflibercept
8 Characterization of Patients With Pseudoxanthoma Elasticum Unknown status NCT02108392
9 Arterial Wall Calcium Load and Preferential Sites in Pseudoxanthoma Elasticum Versus Type 2 Diabetes and Chronic Kidney Disease. Unknown status NCT01731080
10 Biological Collection of Renal Cells for the Functional Study of the ABCC6 Transporter on iPS-derived Hepatocytes and Renal Cells Unknown status NCT03364504
11 Functional and Structural Characterization of the Peripheral Arteriopathy in Pseudoxanthoma Elasticum (PXE) Completed NCT01446393
12 Genetic Analysis of Patients With Pseudoxanthoma Elasticum (PXE) Completed NCT00341419
13 Evolution of Visual Impairment During Pseudoxanthoma Elasticum Completed NCT00555113
14 Glucidic Metabolism, Ossification and Arterial Calcification During PseudoXanthoma Elasticum (PXE) Completed NCT03070860
15 Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort Recruiting NCT01446380
16 Intestinal Microbiota and Vitamin K Levels in PXE Patients (IMPROVE Study) Recruiting NCT03813550
17 The Natural History of Generalized Arterial Calcification of Infancy (GACI) With or Without Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) or Pseudoxanthoma Elasticum (PXE) Recruiting NCT03758534
18 Evaluation of Choroidal Thickness in Patients Suffering From Beta-thalassemia Recruiting NCT04067258
19 A Natural History Study of Patients With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Recruiting NCT03478839
20 Arterial Calcifications: Role of Tissue-nonspecific Alkaline Phosphatase in Phosphate and Pyrophosphate Homeostasis. PIPAL Study. Not yet recruiting NCT03520738

Search NIH Clinical Center for Pseudoxanthoma Elasticum

Cochrane evidence based reviews: pseudoxanthoma elasticum

Genetic Tests for Pseudoxanthoma Elasticum

Genetic tests related to Pseudoxanthoma Elasticum:

# Genetic test Affiliating Genes
1 Pseudoxanthoma Elasticum 29 ABCC6 XYLT1 XYLT2

Anatomical Context for Pseudoxanthoma Elasticum

MalaCards organs/tissues related to Pseudoxanthoma Elasticum:

40
Skin, Eye, Heart, Retina, Liver, Kidney, Endothelial

Publications for Pseudoxanthoma Elasticum

Articles related to Pseudoxanthoma Elasticum:

(show top 50) (show all 1513)
# Title Authors PMID Year
1
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. 56 6 24 54 61
16086317 2005
2
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum. 61 6 24 56
28102862 2017
3
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. 6 24 56 61
22209248 2012
4
Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth. 61 24 6 56
16541094 2006
5
Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course. 56 6 54 61
16571645 2006
6
Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum. 61 54 56 6
12714611 2003
7
Mutations in ABCC6 cause pseudoxanthoma elasticum. 56 6 54 61
10835643 2000
8
Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. 6 54 56 61
10811882 2000
9
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. 6 56 61
20034067 2010
10
Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity. 56 54 24 61
16410789 2006
11
Does autosomal dominant pseudoxanthoma elasticum exist? 6 61 56
15098239 2004
12
Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa. 24 54 61 6
12384774 2002
13
Molecular genetics of pseudoxanthoma elasticum. 61 6 56
11493310 2001
14
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. 56 6 61
10835642 2000
15
Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region. 56 61 54
20075945 2010
16
Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6. 54 6 61
19904211 2009
17
Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. 61 54 6
18800149 2009
18
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. 56 61 54
15894595 2005
19
Novel ABCC6 mutations in pseudoxanthoma elasticum. 6 54 61
15086542 2004
20
Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum. 56 54 61
15727254 2004
21
Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). 6 61 54
11880368 2002
22
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. 54 61 56
11536079 2001
23
Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6 gene. 61 54 6
11474653 2001
24
Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum. 61 54 6
11179012 2001
25
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11. 6 61 54
11439001 2001
26
Visual Impairment in Pseudoxanthoma Elasticum: A Survey of 40 Patients. 61 56
24749718 2015
27
Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings. 56 61
20358627 2010
28
Vascular endothelial growth factor gene polymorphisms as prognostic markers for ocular manifestations in pseudoxanthoma elasticum. 56 61
19483196 2009
29
Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches. 56 61
19298904 2009
30
Pseudoxanthoma elasticum is a metabolic disease. 61 56
18685618 2009
31
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. 61 54 24
17617515 2007
32
Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients. 24 54 61
17823974 2007
33
Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro. 6 61
16543900 2006
34
Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum. 61 56
15888484 2005
35
Acquired Pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients. 56 61
12930400 2003
36
Mammographic findings in pseudoxanthoma elasticum. 56 61
12637915 2003
37
Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. 6 61
12176944 2002
38
Elastic tissue abnormalities resembling pseudoxanthoma elasticum in beta thalassemia and the sickling syndromes. 61 56
11756149 2002
39
Pseudoxanthoma Elasticum 61 6
20301292 2001
40
A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure. 56 61
10759028 2000
41
Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16. 56 61
10585762 1999
42
Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. 56 61
9302259 1997
43
A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1. 56 61
9267806 1997
44
Classification of pseudoxanthoma elasticum: report of a consensus conference. 61 56
8277008 1994
45
Brief report: occult pseudoxanthoma elasticum in patients with premature cardiovascular disease. 56 61
8413390 1993
46
Pseudoxanthoma elasticum-like skin lesions and angioid streaks in beta-thalassemia. 56 61
1415189 1992
47
Mitral stenosis in pseudoxanthoma elasticum. 61 56
1600795 1992
48
Pseudoxanthoma elasticum: similar autosomal recessive subtype in Belgian and Afrikaner families. 61 56
2012127 1991
49
Pseudoxanthoma elasticum (Grönblad-Strandberg syndrome). 56 61
3172143 1988
50
The surgical treatment of restrictive cardiomyopathy in pseudoxanthoma elasticum. 56 61
3342167 1988

Variations for Pseudoxanthoma Elasticum

ClinVar genetic disease variations for Pseudoxanthoma Elasticum:

6 (show top 50) (show all 387) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCC6 NM_001171.5(ABCC6):c.1256G>A (p.Arg419Gln)SNV Pathogenic 430158 rs772434460 16:16291960-16291960 16:16198103-16198103
2 ABCC6 NM_001171.5(ABCC6):c.4403+11C>GSNV Pathogenic 433397 rs72664215 16:16244424-16244424 16:16150567-16150567
3 ABCC6 NM_001171.5(ABCC6):c.2996-?_4208+?deldeletion Pathogenic 433404
4 ABCC6 NM_001171.5(ABCC6):c.3307-?_3882+?deldeletion Pathogenic 433440
5 ABCC6 NM_001171.5(ABCC6):c.3307-?_3735+?deldeletion Pathogenic 433451
6 ABCC6 NM_001171.5(ABCC6):c.1868-?_1943+?deldeletion Pathogenic 433388
7 ABCC6 NM_001171.5(ABCC6):c.4501G>A (p.Gly1501Ser)SNV Pathogenic 433368 rs63750874 16:16244001-16244001 16:16150144-16150144
8 ABCC6 NM_001171.5(ABCC6):c.4448C>T (p.Pro1483Leu)SNV Pathogenic 433367 rs63750135 16:16244054-16244054 16:16150197-16150197
9 ABCC6 NM_001171.5(ABCC6):c.4198G>A (p.Glu1400Lys)SNV Pathogenic 433353 rs63751241 16:16248495-16248495 16:16154638-16154638
10 ABCC6 NM_001171.5(ABCC6):c.4192C>T (p.Arg1398Ter)SNV Pathogenic 433352 rs66913554 16:16248501-16248501 16:16154644-16154644
11 ABCC6 NM_001171.5(ABCC6):c.4189G>A (p.Asp1397Asn)SNV Pathogenic 433437 rs749035807 16:16248504-16248504 16:16154647-16154647
12 ABCC6 NM_001171.5(ABCC6):c.4182G>A (p.Lys1394=)SNV Pathogenic 433406 rs63750798 16:16248511-16248511 16:16154654-16154654
13 ABCC6 NM_001171.5(ABCC6):c.4182del (p.Lys1394fs)deletion Pathogenic 433351 rs67791546 16:16248511-16248511 16:16154654-16154654
14 ABCC6 NM_001171.5(ABCC6):c.4104del (p.Asp1368fs)deletion Pathogenic 433350 rs72664237 16:16248589-16248589 16:16154732-16154732
15 ABCC6 NM_001171.5(ABCC6):c.4060G>C (p.Gly1354Arg)SNV Pathogenic 433349 rs63750018 16:16248633-16248633 16:16154776-16154776
16 ABCC6 NM_001171.5(ABCC6):c.4048A>C (p.Ile1350Leu)SNV Pathogenic 433348 rs72664288 16:16248645-16248645 16:16154788-16154788
17 ABCC6 NM_001171.5(ABCC6):c.4041G>C (p.Gln1347His)SNV Pathogenic 433347 rs63751111 16:16248730-16248730 16:16154873-16154873
18 ABCC6 NM_001171.5(ABCC6):c.4036C>T (p.Pro1346Ser)SNV Pathogenic 433346 rs63751112 16:16248735-16248735 16:16154878-16154878
19 ABCC6 NM_001171.5(ABCC6):c.4025T>C (p.Ile1342Thr)SNV Pathogenic 433345 rs63750608 16:16248746-16248746 16:16154889-16154889
20 ABCC6 NM_001171.5(ABCC6):c.4016G>T (p.Arg1339Leu)SNV Pathogenic 433344 rs63750622 16:16248755-16248755 16:16154898-16154898
21 ABCC6 NM_001171.5(ABCC6):c.4004T>C (p.Leu1335Pro)SNV Pathogenic 433342 rs63750414 16:16248767-16248767 16:16154910-16154910
22 ABCC6 NM_001171.5(ABCC6):c.4004T>A (p.Leu1335Gln)SNV Pathogenic 433343 rs63750414 16:16248767-16248767 16:16154910-16154910
23 ABCC6 NM_001171.5(ABCC6):c.3999G>A (p.Val1333=)SNV Pathogenic 433341 rs63750235 16:16248772-16248772 16:16154915-16154915
24 ABCC6 NM_001171.5(ABCC6):c.3307-1006_3882+1582deldeletion Pathogenic 433423 16:16249938-16258055 16:16156081-16164198
25 ABCC6 NM_001171.5(ABCC6):c.3876_3882+1deldeletion Pathogenic 433515 rs1297171898 16:16251519-16251526 16:16157662-16157669
26 ABCC6 NM_001171.5(ABCC6):c.3880_3882del (p.Lys1294del)deletion Pathogenic 433231 rs72664235 16:16251520-16251522 16:16157663-16157665
27 ABCC6 NM_001171.5(ABCC6):c.3877G>A (p.Glu1293Lys)SNV Pathogenic 433332 rs63750625 16:16251525-16251525 16:16157668-16157668
28 ABCC6 NM_001171.5(ABCC6):c.3866_3869dup (p.Ala1291fs)duplication Pathogenic 433464 rs1555507893 16:16251532-16251533 16:16157675-16157676
29 ABCC6 NM_001171.5(ABCC6):c.3823_3870del (p.Arg1275_His1290del)deletion Pathogenic 433413 rs74315128 16:16251532-16251579 16:16157675-16157722
30 ABCC6 NM_001171.5(ABCC6):c.3816_3828dup (p.Glu1277delinsLysIleProThrTer)duplication Pathogenic 433493 rs1555507903 16:16251573-16251574 16:16157716-16157717
31 ABCC6 NM_001171.5(ABCC6):c.3823C>T (p.Arg1275Ter)SNV Pathogenic 433294 rs72653749 16:16251579-16251579 16:16157722-16157722
32 ABCC6 NM_001171.5(ABCC6):c.3818G>A (p.Arg1273Lys)SNV Pathogenic 433331 rs63750209 16:16251584-16251584 16:16157727-16157727
33 ABCC6 NM_001171.5(ABCC6):c.3798del (p.Glu1266fs)deletion Pathogenic 433379 rs72664234 16:16251604-16251604 16:16157747-16157747
34 ABCC6 NM_001171.5(ABCC6):c.3790C>T (p.Gln1264Ter)SNV Pathogenic 433461 rs1311228469 16:16251612-16251612 16:16157755-16157755
35 ABCC6 NM_001171.5(ABCC6):c.3787G>A (p.Gly1263Arg)SNV Pathogenic 433435 rs760376992 16:16251615-16251615 16:16157758-16157758
36 ABCC6 NM_001171.5(ABCC6):c.3777G>A (p.Trp1259Ter)SNV Pathogenic 433490 rs1555507925 16:16251625-16251625 16:16157768-16157768
37 ABCC6 NM_001171.5(ABCC6):c.3775_3776insC (p.Trp1259fs)insertion Pathogenic 433485 rs1555507927 16:16251626-16251627 16:16157769-16157770
38 ABCC6 NM_001171.5(ABCC6):c.3774dup (p.Trp1259fs)duplication Pathogenic 433330 rs72664220 16:16251627-16251628 16:16157770-16157771
39 ABCC6 NM_001171.5(ABCC6):c.3735G>T (p.Glu1245Asp)SNV Pathogenic 433327 rs281865557 16:16253339-16253339 16:16159482-16159482
40 ABCC6 NM_001171.5(ABCC6):c.3735G>A (p.Glu1245=)SNV Pathogenic 433328 rs281865557 16:16253339-16253339 16:16159482-16159482
41 ABCC6 NM_001171.5(ABCC6):c.3723G>C (p.Trp1241Cys)SNV Pathogenic 433287 rs72657701 16:16253351-16253351 16:16159494-16159494
42 ABCC6 NM_001171.5(ABCC6):c.3722G>A (p.Trp1241Ter)SNV Pathogenic 433211 rs72653748 16:16253352-16253352 16:16159495-16159495
43 ABCC6 NM_001171.5(ABCC6):c.3717T>G (p.Tyr1239Ter)SNV Pathogenic 433326 rs72653747 16:16253357-16253357 16:16159500-16159500
44 ABCC6 NM_001171.5(ABCC6):c.3715T>C (p.Tyr1239His)SNV Pathogenic 433325 rs63749992 16:16253359-16253359 16:16159502-16159502
45 ABCC6 NM_001171.5(ABCC6):c.3709C>T (p.Gln1237Ter)SNV Pathogenic 433324 rs72653746 16:16253365-16253365 16:16159508-16159508
46 ABCC6 NM_001171.5(ABCC6):c.3703C>T (p.Arg1235Trp)SNV Pathogenic 433323 rs63750402 16:16253371-16253371 16:16159514-16159514
47 ABCC6 NM_001171.5(ABCC6):c.3692_3693insTT (p.Ser1232fs)insertion Pathogenic 433513 rs779018991 16:16253381-16253382 16:16159524-16159525
48 ABCC6 NM_001171.5(ABCC6):c.3676C>A (p.Leu1226Ile)SNV Pathogenic 433322 rs63750125 16:16253398-16253398 16:16159541-16159541
49 ABCC6 NM_001171.5(ABCC6):c.3668G>A (p.Trp1223Ter)SNV Pathogenic 433321 rs72653745 16:16253406-16253406 16:16159549-16159549
50 ABCC6 NM_001171.5(ABCC6):c.3662G>A (p.Arg1221His)SNV Pathogenic 433320 rs63751001 16:16253412-16253412 16:16159555-16159555

UniProtKB/Swiss-Prot genetic disease variations for Pseudoxanthoma Elasticum:

73 (show top 50) (show all 83)
# Symbol AA change Variation ID SNP ID
1 ABCC6 p.Arg1114Pro VAR_011491 rs63750427
2 ABCC6 p.Arg1138Gln VAR_011492 rs60791294
3 ABCC6 p.Arg1138Trp VAR_011493 rs28939701
4 ABCC6 p.Arg1314Trp VAR_011495 rs63750759
5 ABCC6 p.Thr364Arg VAR_013370 rs72653759
6 ABCC6 p.Asn411Lys VAR_013371 rs9930886
7 ABCC6 p.Ala455Pro VAR_013372 rs67996819
8 ABCC6 p.Arg518Gln VAR_013374 rs72653772
9 ABCC6 p.Phe568Ser VAR_013375 rs66864704
10 ABCC6 p.Leu673Pro VAR_013377 rs67470842
11 ABCC6 p.Arg765Gln VAR_013378 rs67561842
12 ABCC6 p.Ser1121Trp VAR_013380 rs63750987
13 ABCC6 p.Arg1138Pro VAR_013381 rs60791294
14 ABCC6 p.Gly1203Asp VAR_013382 rs63750607
15 ABCC6 p.Val1298Phe VAR_013384 rs63751325
16 ABCC6 p.Thr1301Ile VAR_013385 rs63750494
17 ABCC6 p.Gly1302Arg VAR_013386 rs63749856
18 ABCC6 p.Ala1303Pro VAR_013387 rs63750410
19 ABCC6 p.Arg1314Gln VAR_013388 rs63751086
20 ABCC6 p.Gly1321Ser VAR_013389 rs63749823
21 ABCC6 p.Arg1339Cys VAR_013390 rs28939702
22 ABCC6 p.Gln1347His VAR_013391 rs63751111
23 ABCC6 p.Gly1354Arg VAR_013392 rs63750018
24 ABCC6 p.Asp1361Asn VAR_013393 rs58695352
25 ABCC6 p.Ile1424Thr VAR_013394 rs63750295
26 ABCC6 p.Ala78Thr VAR_067841 rs2856597
27 ABCC6 p.Glu125Lys VAR_067842 rs3853814
28 ABCC6 p.Gly129Glu VAR_067843 rs72653753
29 ABCC6 p.Ser317Arg VAR_067845 rs78678589
30 ABCC6 p.Leu355Arg VAR_067846 rs72653758
31 ABCC6 p.Asn370Asp VAR_067848 rs72653760
32 ABCC6 p.Arg382Trp VAR_067849 rs72653761
33 ABCC6 p.Arg391Gly VAR_067850 rs72653762
34 ABCC6 p.Lys392Asn VAR_067851 rs72653763
35 ABCC6 p.Ser398Gly VAR_067852 rs72653764
36 ABCC6 p.Cys440Gly VAR_067854 rs72653766
37 ABCC6 p.Leu463His VAR_067855 rs72653767
38 ABCC6 p.Leu495His VAR_067856 rs72653769
39 ABCC6 p.Ser535Pro VAR_067858 rs72653773
40 ABCC6 p.Phe551Ser VAR_067859 rs72653774
41 ABCC6 p.Ala594Val VAR_067861 rs72653776
42 ABCC6 p.Arg600Cys VAR_067862 rs72653777
43 ABCC6 p.Gly663Cys VAR_067863 rs72653780
44 ABCC6 p.Leu677Pro VAR_067864 rs72653782
45 ABCC6 p.Gln698Pro VAR_067865 rs72653783
46 ABCC6 p.Glu699Asp VAR_067866 rs72653784
47 ABCC6 p.Leu726Pro VAR_067869 rs72653785
48 ABCC6 p.Met751Lys VAR_067871 rs72653786
49 ABCC6 p.Gly755Arg VAR_067872 rs72653787
50 ABCC6 p.Arg760Trp VAR_067873 rs72653788

Copy number variations for Pseudoxanthoma Elasticum from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 98213 16 16150922 16224829 Copy number ABCC6 Pseudoxanthoma Elasticum

Expression for Pseudoxanthoma Elasticum

Search GEO for disease gene expression data for Pseudoxanthoma Elasticum.

Pathways for Pseudoxanthoma Elasticum

Pathways related to Pseudoxanthoma Elasticum according to KEGG:

36
# Name Kegg Source Accession
1 ABC transporters hsa02010

Pathways related to Pseudoxanthoma Elasticum according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 CFTR ANKH ABCC9 ABCC8 ABCC6 ABCC2
2 12.16 ENPP1 ABCC6 ABCC2 ABCC1
3 11.14 SPP1 MGP ENPP1
4
Show member pathways
10.86 VKORC1 GGCX
5 10.84 ABCC6 ABCC2
6 10.82 ABCC2 ABCC1
7
Show member pathways
10.73 ABCC2 ABCC1
8 10.66 ABCC2 ABCC1
9 10.5 ABCC2 ABCC1
10 10.26 ABCC2 ABCC1
11 9.98 VKORC1 MGP GGCX

GO Terms for Pseudoxanthoma Elasticum

Cellular components related to Pseudoxanthoma Elasticum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.22 XYLT2 XYLT1 VKORC1 NOMO3 NOMO2 NOMO1
2 endoplasmic reticulum membrane GO:0005789 9.8 VKORC1 NOMO3 NOMO2 NOMO1 GGCX CFTR
3 integral component of membrane GO:0016021 9.53 XYLT2 XYLT1 VKORC1 NOMO3 NOMO2 NOMO1
4 inward rectifying potassium channel GO:0008282 9.16 ABCC9 ABCC8
5 potassium ion-transporting ATPase complex GO:0031004 8.96 ABCC9 ABCC8

Biological processes related to Pseudoxanthoma Elasticum according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.78 ABCC8 ABCC6 ABCC2 ABCC1
2 proteoglycan biosynthetic process GO:0030166 9.51 XYLT2 XYLT1
3 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.49 XYLT2 XYLT1
4 glycosaminoglycan metabolic process GO:0030203 9.46 XYLT2 XYLT1
5 transepithelial transport GO:0070633 9.43 ABCC2 ABCC1
6 chondroitin sulfate proteoglycan biosynthetic process GO:0050650 9.4 XYLT2 XYLT1
7 inorganic cation transmembrane transport GO:0098662 9.37 ABCC9 ABCC8
8 peptidyl-glutamic acid carboxylation GO:0017187 9.32 VKORC1 GGCX
9 inorganic diphosphate transport GO:0030505 9.26 ENPP1 ANKH
10 transmembrane transport GO:0055085 9.23 CFTR ANKH ABCC9 ABCC8 ABCC6 ABCC2
11 leukotriene transport GO:0071716 9.16 ABCC2 ABCC1
12 regulation of bone mineralization GO:0030500 9.13 MGP ENPP1 ANKH

Molecular functions related to Pseudoxanthoma Elasticum according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.97 ENPP1 CFTR ABCC9 ABCC8 ABCC6 ABCC2
2 transmembrane transporter activity GO:0022857 9.73 ABCC9 ABCC6 ABCC2 ABCC1
3 cation-transporting ATPase activity GO:0019829 9.51 ABCC9 ABCC8
4 ATPase activity GO:0016887 9.5 CFTR ABCC9 ABCC8 ABCC6 ABCC2 ABCC1
5 xenobiotic transmembrane transporter activity GO:0042910 9.49 ABCC2 ABCC1
6 organic anion transmembrane transporter activity GO:0008514 9.48 ABCC2 ABCC1
7 extracellular matrix constituent conferring elasticity GO:0030023 9.46 FBN1 ELN
8 ATP-activated inward rectifier potassium channel activity GO:0015272 9.4 ABCC9 ABCC8
9 xenobiotic transmembrane transporting ATPase activity GO:0008559 9.32 ABCC2 ABCC1
10 protein xylosyltransferase activity GO:0030158 9.26 XYLT2 XYLT1
11 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.17 CFTR ABCC9 ABCC8 ABCC6 ABCC2 ABCC1
12 sulfonylurea receptor activity GO:0008281 9.16 ABCC9 ABCC8

Sources for Pseudoxanthoma Elasticum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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