PXE
MCID: PSD087
MIFTS: 67

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
Gronblad-Strandberg Syndrome 56 12 24 25 73 71
Pxe 56 24 52 25 58 73
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 gronblad-strandberg syndrome, 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 retina, 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) also known as Groenblad-Strandberg syndrome, is a genetic disease that... 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 282)
# 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 angioid streaks 32.0 XYLT2 XYLT1 MGP GGCX ENPP1 ELN
4 elastosis perforans serpiginosa 32.0 ELN ABCC6
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 connective tissue disease 31.0 SPP1 FBN1 ELN ABCC6
11 arteriosclerosis 30.8 SPP1 MGP FBN1 ELN
12 vitamin k deficiency bleeding 30.8 VKORC1 MGP GGCX
13 brittle bone disorder 30.7 SPP1 FBN1 ELN
14 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency 13.0
15 pseudoxanthoma elasticum, forme fruste 12.8
16 acquired pseudoxanthoma elasticum 12.7
17 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa 12.5
18 arterial calcification, generalized, of infancy, 2 11.9
19 autosomal recessive disease 10.8
20 vascular disease 10.7
21 arterial calcification, generalized, of infancy, 1 10.7
22 thalassemia 10.7
23 peripheral vascular disease 10.6
24 orthostatic intolerance 10.6
25 pattern dystrophy 10.6
26 macular degeneration, age-related, 1 10.6
27 beta-thalassemia 10.6
28 hyperlipoproteinemia, type iii 10.6
29 coronary artery anomaly 10.6
30 skin disease 10.6
31 chronic actinic dermatitis 10.6 FBN1 ELN
32 afferent loop syndrome 10.5 NOMO3 NOMO2 NOMO1
33 superficial urinary bladder cancer 10.5 NOMO3 NOMO2 NOMO1
34 splenic abscess 10.5 NOMO3 NOMO2 NOMO1
35 hereditary combined deficiency of vitamin k-dependent clotting factors 10.5 VKORC1 GGCX
36 familial abdominal aortic aneurysm 10.5 FBN1 ELN
37 ulcerative stomatitis 10.5 NOMO3 NOMO2 NOMO1
38 ureteric orifice cancer 10.5 FBN1 ELN
39 arteries, anomalies of 10.5
40 yemenite deaf-blind hypopigmentation syndrome 10.5
41 ehlers-danlos syndrome 10.5
42 optic disk drusen 10.5
43 intermittent claudication 10.5
44 cerebrovascular disease 10.5
45 marfan syndrome 10.5
46 angina pectoris 10.5
47 peripheral artery disease 10.5
48 hemoglobinopathy 10.5
49 restrictive cardiomyopathy 10.5
50 dubin-johnson syndrome 10.5 ABCC6 ABCC2 ABCC1

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 61)
# 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 abnormality of the cerebral vasculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0100659
5 arterial stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100545
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 hallmark (90%) 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 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
13 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
14 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
15 sudden cardiac death 58 31 occasional (7.5%) Occasional (29-5%) HP:0001645
16 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
17 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
18 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
19 subcutaneous nodule 58 31 occasional (7.5%) Occasional (29-5%) HP:0001482
20 angina pectoris 58 31 occasional (7.5%) Occasional (29-5%) HP:0001681
21 pruritus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000989
22 telangiectasia of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0100585
23 hemiplegia/hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004374
24 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
25 abnormality of the thorax 58 31 occasional (7.5%) Occasional (29-5%) HP:0000765
26 acne 58 31 occasional (7.5%) Occasional (29-5%) HP:0001061
27 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
28 multiple lipomas 58 31 occasional (7.5%) Occasional (29-5%) HP:0001012
29 mitral valve prolapse 58 31 occasional (7.5%) Occasional (29-5%) HP:0001634
30 nephrocalcinosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000121
31 blue sclerae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000592
32 hyperextensible skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000974
33 atherosclerosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002621
34 postural instability 58 31 occasional (7.5%) Occasional (29-5%) HP:0002172
35 restrictive cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001723
36 metamorphopsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012508
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 renal insufficiency 31 HP:0000083
42 hypermelanotic macule 31 HP:0001034
43 malformation of the heart and great vessels 58 Very frequent (99-80%)
44 congestive heart failure 31 HP:0001635
45 lack of skin elasticity 58 Very frequent (99-80%)
46 reduced visual acuity 31 HP:0007663
47 mitral stenosis 31 HP:0001718
48 abnormality of the endocardium 58 Occasional (29-5%)
49 abnormality of the mouth 31 HP:0000153
50 abnormality of thrombocytes 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Vascular:
angina pectoris
accelerated atherosclerosis
coronary artery disease
intermittent claudication (30%)
renovascular hypertension (rare)
more
Abdomen Gastrointestinal:
gastrointestinal hemorrhage

Neurologic Central Nervous System:
stroke

Head And Neck Mouth:
mucosal pxe lesions (inner aspect lower lip, cheeks, and palate)

Genitourinary Bladder:
bladder hemorrhage

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

Head And Neck Eyes:
macular degeneration
retinal hemorrhage
choroidal neovascularization
central vision loss
peau d'orange retinal changes (yellow-mottled retinal hyperpigmentation)
more
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 cardiovascular system MP:0005385 10.07 ABCA4 ABCC6 ABCC9 ANKH ENPP1 FBN1
2 homeostasis/metabolism MP:0005376 10.03 ABCA4 ABCC1 ABCC2 ABCC6 ABCC8 ABCC9
3 hematopoietic system MP:0005397 9.96 ABCA4 ABCC1 ABCC2 ANKH CFTR FBN1
4 craniofacial MP:0005382 9.87 ABCC6 ANKH CFTR ENPP1 FBN1 SPP1
5 renal/urinary system MP:0005367 9.5 ABCC2 ABCC6 ENPP1 FBN1 MGP SPP1
6 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 28)
# 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 Anti-Ulcer Agents Phase 2
7 Gastrointestinal Agents Phase 2
8 Magnesium Supplement Phase 2
9 Antacids Phase 2
10
Phylloquinone Approved, Investigational 84-80-0
11
Calcium Approved, Nutraceutical 7440-70-2 271
12
Menadione Approved, Nutraceutical 58-27-5 4055
13 Menaquinone Investigational 1182-68-9
14 Hormones
15 Calcium, Dietary
16 Fluorodeoxyglucose F18
17 Radiopharmaceuticals
18 Trace Elements
19 Vitamins
20 Micronutrients
21 Nutrients
22 Antifibrinolytic Agents
23 Coagulants
24 Hemostatics
25 naphthoquinone
26 Vitamin K 2
27 Vitamin MK 7
28 Vitamin K

Interventional clinical trials:

(show all 19)
# 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 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
7 Arterial Wall Calcium Load and Preferential Sites in Pseudoxanthoma Elasticum Versus Type 2 Diabetes and Chronic Kidney Disease. Unknown status NCT01731080
8 Biological Collection of Renal Cells for the Functional Study of the ABCC6 Transporter on iPS-derived Hepatocytes and Renal Cells Unknown status NCT03364504
9 Functional and Structural Characterization of the Peripheral Arteriopathy in Pseudoxanthoma Elasticum (PXE) Completed NCT01446393
10 Genetic Analysis of Patients With Pseudoxanthoma Elasticum (PXE) Completed NCT00341419
11 Evolution of Visual Impairment During Pseudoxanthoma Elasticum Completed NCT00555113
12 Glucidic Metabolism, Ossification and Arterial Calcification During PseudoXanthoma Elasticum (PXE) Completed NCT03070860
13 Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort Recruiting NCT01446380
14 Intestinal Microbiota and Vitamin K Levels in PXE Patients (IMPROVE Study) Recruiting NCT03813550
15 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
16 Evaluation of Choroidal Thickness in Patients Suffering From Beta-thalassemia Recruiting NCT04067258
17 A Retrospective, Natural History Study of Patients With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Recruiting NCT03478839
18 Characterization of Patients With Pseudoxanthoma Elasticum Active, not recruiting NCT02108392
19 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, Retina, Heart, Liver, Kidney, Endothelial

Publications for Pseudoxanthoma Elasticum

Articles related to Pseudoxanthoma Elasticum:

(show top 50) (show all 1478)
# Title Authors PMID Year
1
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. 24 6 56 54 61
16086317 2005
2
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. 24 6 56 61
22209248 2012
3
Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth. 6 56 24 61
16541094 2006
4
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. 61 54 56 6
16571645 2006
5
Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum. 61 56 6 54
12714611 2003
6
Mutations in ABCC6 cause pseudoxanthoma elasticum. 56 6 54 61
10835643 2000
7
Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. 61 56 6 54
10811882 2000
8
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum. 6 56 61
28102862 2017
9
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. 61 6 56
20034067 2010
10
Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6. 61 54 24 6
19904211 2009
11
Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. 61 6 24 54
18800149 2009
12
Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity. 24 56 61 54
16410789 2006
13
Does autosomal dominant pseudoxanthoma elasticum exist? 6 56 61
15098239 2004
14
Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa. 24 61 6 54
12384774 2002
15
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. 56 24 54 61
11536079 2001
16
Molecular genetics of pseudoxanthoma elasticum. 61 6 56
11493310 2001
17
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. 61 56 6
10835642 2000
18
Pseudoxanthoma elasticum: high calcium intake in early life correlates with severity. 56 61 24
6507474 1984
19
Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region. 54 61 56
20075945 2010
20
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. 54 61 56
15894595 2005
21
Novel ABCC6 mutations in pseudoxanthoma elasticum. 61 54 6
15086542 2004
22
Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum. 61 54 56
15727254 2004
23
Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). 6 54 61
11880368 2002
24
Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6 gene. 61 54 6
11474653 2001
25
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 6 54
11179012 2001
26
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11. 6 54 61
11439001 2001
27
Visual Impairment in Pseudoxanthoma Elasticum: A Survey of 40 Patients. 56 61
24749718 2015
28
Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings. 56 61
20358627 2010
29
Vascular endothelial growth factor gene polymorphisms as prognostic markers for ocular manifestations in pseudoxanthoma elasticum. 56 61
19483196 2009
30
Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches. 61 56
19298904 2009
31
Pseudoxanthoma elasticum is a metabolic disease. 61 56
18685618 2009
32
Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE. 61 54 24
18347285 2008
33
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
34
Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro. 6 61
16543900 2006
35
Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum. 56 61
15888484 2005
36
Acquired Pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients. 61 56
12930400 2003
37
Mammographic findings in pseudoxanthoma elasticum. 56 61
12637915 2003
38
Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. 61 6
12176944 2002
39
Elastic tissue abnormalities resembling pseudoxanthoma elasticum in beta thalassemia and the sickling syndromes. 61 56
11756149 2002
40
Pseudoxanthoma Elasticum 6 61
20301292 2001
41
A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure. 61 56
10759028 2000
42
Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16. 61 56
10585762 1999
43
Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. 61 56
9302259 1997
44
A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1. 61 56
9267806 1997
45
Classification of pseudoxanthoma elasticum: report of a consensus conference. 61 56
8277008 1994
46
Brief report: occult pseudoxanthoma elasticum in patients with premature cardiovascular disease. 61 56
8413390 1993
47
Pseudoxanthoma elasticum-like skin lesions and angioid streaks in beta-thalassemia. 61 56
1415189 1992
48
Mitral stenosis in pseudoxanthoma elasticum. 61 56
1600795 1992
49
Pseudoxanthoma elasticum: similar autosomal recessive subtype in Belgian and Afrikaner families. 56 61
2012127 1991
50
Pseudoxanthoma elasticum (Grönblad-Strandberg syndrome). 61 56
3172143 1988

Variations for Pseudoxanthoma Elasticum

ClinVar genetic disease variations for Pseudoxanthoma Elasticum:

6 (show top 50) (show all 381) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCC6 NM_001171.5(ABCC6):c.3421C>T (p.Arg1141Ter)SNV Pathogenic 6559 rs72653706 16:16256935-16256935 16:16163078-16163078
2 ABCC6 NM_001171.5(ABCC6):c.2787+1G>TSNV Pathogenic 6560 rs72664209 16:16267140-16267140 16:16173283-16173283
3 ABCC6 NM_001171.5(ABCC6):c.3413G>A (p.Arg1138Gln)SNV Pathogenic 6561 rs60791294 16:16256943-16256943 16:16163086-16163086
4 ABCC6 NM_001171.5(ABCC6):c.3341G>C (p.Arg1114Pro)SNV Pathogenic 6562 rs63750427 16:16257015-16257015 16:16163158-16163158
5 ABCC6 NM_001171.5(ABCC6):c.3775del (p.Trp1259fs)deletion Pathogenic 6563 rs72664233 16:16251627-16251627 16:16157770-16157770
6 ABCC6 NM_001171.5(ABCC6):c.3940C>T (p.Arg1314Trp)SNV Pathogenic 6564 rs63750759 16:16248831-16248831 16:16154974-16154974
7 ABCC6 NM_001171.5(ABCC6):c.4243_4244insAGAA (p.Ala1415fs)insertion Pathogenic 6566 rs387906352 16:16244594-16244595 16:16150737-16150738
8 ABCC6 NC_000016.9:g.(?_15796991)_(16317329_?)deldeletion Pathogenic 6568 16:15796991-16317329 16:15703134-16223472
9 ABCC6 NM_001171.5(ABCC6):c.3892G>T (p.Val1298Phe)SNV Pathogenic 6578 rs63751325 16:16248879-16248879 16:16155022-16155022
10 ABCC6 NM_001171.5(ABCC6):c.3904G>A (p.Gly1302Arg)SNV Pathogenic 6579 rs63749856 16:16248867-16248867 16:16155010-16155010
11 ABCC6 NM_001171.5(ABCC6):c.3961G>A (p.Gly1321Ser)SNV Pathogenic 6580 rs63749823 16:16248810-16248810 16:16154953-16154953
12 ABCC6 NM_001171.5(ABCC6):c.3712G>C (p.Asp1238His)SNV Pathogenic 6581 rs63749796 16:16253362-16253362 16:16159505-16159505
13 ABCC6 NM_001171.5(ABCC6):c.2294G>A (p.Arg765Gln)SNV Pathogenic 30337 rs67561842 16:16272776-16272776 16:16178919-16178919
14 ABCC6 NM_001171.5(ABCC6):c.4216C>A (p.Gln1406Lys)SNV Pathogenic 30338 rs387906859 16:16244622-16244622 16:16150765-16150765
15 ABCC6 NM_001171.5(ABCC6):c.1552C>T (p.Arg518Ter)SNV Pathogenic 30339 rs72650700 16:16284104-16284104 16:16190247-16190247
16 ABCC6 NM_001171.5(ABCC6):c.3412C>T (p.Arg1138Trp)SNV Pathogenic 6571 rs28939701 16:16256944-16256944 16:16163087-16163087
17 ABCC6 NM_001171.5(ABCC6):c.3490C>T (p.Arg1164Ter)SNV Pathogenic 6572 rs72653744 16:16256866-16256866 16:16163009-16163009
18 ABCC6 NG_007558.2:g.(60799_60814)_(77206_77221)deldeletion Pathogenic 6573 16:16245108-16261530 16:16151251-16167673
19 ABCC6 NM_001171.5(ABCC6):c.3736-1G>ASNV Pathogenic 6574 rs63750273 16:16251667-16251667 16:16157810-16157810
20 ABCC6 NM_001171.5(ABCC6):c.4015C>T (p.Arg1339Cys)SNV Pathogenic 6576 rs28939702 16:16248756-16248756 16:16154899-16154899
21 ABCC6 NM_001171.5(ABCC6):c.3306+1deldeletion Pathogenic 208558 rs797045078 16:16259479-16259479 16:16165622-16165622
22 ABCC6 NM_001171.5(ABCC6):c.1553G>A (p.Arg518Gln)SNV Pathogenic 265018 rs72653772 16:16284103-16284103 16:16190246-16190246
23 ABCC6 NM_001171.5(ABCC6):c.1132C>T (p.Gln378Ter)SNV Pathogenic 372294 rs72650699 16:16295902-16295902 16:16202045-16202045
24 ABCC6 NM_001171.5(ABCC6):c.2018T>C (p.Leu673Pro)SNV Pathogenic 379930 rs67470842 16:16276713-16276713 16:16182856-16182856
25 ABCC6 NM_001171.5(ABCC6):c.1256G>A (p.Arg419Gln)SNV Pathogenic 430158 rs772434460 16:16291960-16291960 16:16198103-16198103
26 ABCC6 NM_001171.5(ABCC6):c.2996-?_4208+?deldeletion Pathogenic 433404
27 ABCC6 NM_001171.5(ABCC6):c.3307-?_3882+?deldeletion Pathogenic 433440
28 ABCC6 NM_001171.5(ABCC6):c.3307-?_3735+?deldeletion Pathogenic 433451
29 ABCC6 NM_001171.5(ABCC6):c.1868-?_1943+?deldeletion Pathogenic 433388
30 ABCC6 NM_001171.5(ABCC6):c.*38G>ASNV Pathogenic 433370 rs59461468 16:16243952-16243952 16:16150095-16150095
31 ABCC6 NM_001171.5(ABCC6):c.4501G>A (p.Gly1501Ser)SNV Pathogenic 433368 rs63750874 16:16244001-16244001 16:16150144-16150144
32 ABCC6 NM_001171.5(ABCC6):c.4448C>T (p.Pro1483Leu)SNV Pathogenic 433367 rs63750135 16:16244054-16244054 16:16150197-16150197
33 ABCC6 NM_001171.5(ABCC6):c.4441G>A (p.Gly1481Ser)SNV Pathogenic 433295 rs63751279 16:16244061-16244061 16:16150204-16150204
34 ABCC6 NM_001171.5(ABCC6):c.4434del (p.Glu1479fs)deletion Pathogenic 433365 rs72664280 16:16244068-16244068 16:16150211-16150211
35 ABCC6 NM_001171.5(ABCC6):c.4420A>T (p.Lys1474Ter)SNV Pathogenic 433364 rs72653751 16:16244082-16244082 16:16150225-16150225
36 ABCC6 NM_001171.5(ABCC6):c.4403+11C>GSNV Pathogenic 433397 rs72664215 16:16244424-16244424 16:16150567-16150567
37 ABCC6 NM_001171.5(ABCC6):c.4403+1G>TSNV Pathogenic 433516 rs1006994885 16:16244434-16244434 16:16150577-16150577
38 ABCC6 NM_001171.5(ABCC6):c.4381C>T (p.Arg1461Cys)SNV Pathogenic 433475 rs1030872147 16:16244457-16244457 16:16150600-16150600
39 ABCC6 NM_001171.5(ABCC6):c.4377C>T (p.Arg1459=)SNV Pathogenic 433363 rs63750763 16:16244461-16244461 16:16150604-16150604
40 ABCC6 NM_001171.5(ABCC6):c.4341G>A (p.Trp1447Ter)SNV Pathogenic 433452 rs1333662666 16:16244497-16244497 16:16150640-16150640
41 ABCC6 NM_001171.5(ABCC6):c.4335del (p.Ser1446fs)deletion Pathogenic 433362 rs72664239 16:16244503-16244503 16:16150646-16150646
42 ABCC6 NM_001171.5(ABCC6):c.4324G>A (p.Ala1442Thr)SNV Pathogenic 433514 rs1462269230 16:16244514-16244514 16:16150657-16150657
43 ABCC6 NM_001171.5(ABCC6):c.4318del (p.Met1440fs)deletion Pathogenic 433361 rs72664238 16:16244520-16244520 16:16150663-16150663
44 ABCC6 NM_001171.5(ABCC6):c.4306_4312del (p.Thr1436fs)deletion Pathogenic 433360 rs74315109 16:16244526-16244532 16:16150669-16150675
45 ABCC6 NM_001171.5(ABCC6):c.4305C>T (p.Gly1435=)SNV Pathogenic 433359 rs72664289 16:16244533-16244533 16:16150676-16150676
46 ABCC6 NM_001171.5(ABCC6):c.4271T>C (p.Ile1424Thr)SNV Pathogenic 433358 rs63750295 16:16244567-16244567 16:16150710-16150710
47 ABCC6 NM_001171.5(ABCC6):c.4254G>A (p.Arg1418=)SNV Pathogenic 433357 rs58668703 16:16244584-16244584 16:16150727-16150727
48 ABCC6 NM_001171.5(ABCC6):c.4254del (p.Lys1419fs)deletion Pathogenic 433526 rs1448934731 16:16244584-16244584 16:16150727-16150727
49 ABCC6 NM_001171.5(ABCC6):c.4198G>A (p.Glu1400Lys)SNV Pathogenic 433353 rs63751241 16:16248495-16248495 16:16154638-16154638
50 ABCC6 NM_001171.5(ABCC6):c.4192C>T (p.Arg1398Ter)SNV Pathogenic 433352 rs66913554 16:16248501-16248501 16:16154644-16154644

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 10.16 XYLT2 XYLT1 VKORC1 NOMO3 NOMO2 NOMO1
2 endoplasmic reticulum membrane GO:0005789 9.7 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 8.96 ABCC9 ABCC8

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.8 ABCC8 ABCC6 ABCC2 ABCC1
2 proteoglycan biosynthetic process GO:0030166 9.52 XYLT2 XYLT1
3 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.51 XYLT2 XYLT1
4 glycosaminoglycan metabolic process GO:0030203 9.48 XYLT2 XYLT1
5 xenobiotic transport GO:0042908 9.46 ABCC2 ABCC1
6 drug transmembrane transport GO:0006855 9.43 ABCC2 ABCC1
7 chondroitin sulfate proteoglycan biosynthetic process GO:0050650 9.4 XYLT2 XYLT1
8 transepithelial transport GO:0070633 9.37 ABCC2 ABCC1
9 export across plasma membrane GO:0140115 9.32 ABCC9 ABCC1
10 peptidyl-glutamic acid carboxylation GO:0017187 9.26 VKORC1 GGCX
11 transmembrane transport GO:0055085 9.23 CFTR ANKH ABCC9 ABCC8 ABCC6 ABCC2
12 inorganic diphosphate transport GO:0030505 9.16 ENPP1 ANKH
13 regulation of bone mineralization GO:0030500 9.13 MGP ENPP1 ANKH

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.97 ENPP1 CFTR ABCC9 ABCC8 ABCC6 ABCC2
2 extracellular matrix structural constituent GO:0005201 9.65 MGP FBN1 ELN
3 ATPase activity GO:0016887 9.5 CFTR ABCC9 ABCC8 ABCC6 ABCC2 ABCC1
4 xenobiotic transmembrane transporter activity GO:0042910 9.46 ABCC2 ABCC1
5 efflux transmembrane transporter activity GO:0015562 9.43 ABCC9 ABCC1
6 extracellular matrix constituent conferring elasticity GO:0030023 9.4 FBN1 ELN
7 protein xylosyltransferase activity GO:0030158 9.32 XYLT2 XYLT1
8 xenobiotic transmembrane transporting ATPase activity GO:0008559 9.26 ABCC2 ABCC1
9 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.17 CFTR ABCC9 ABCC8 ABCC6 ABCC2 ABCC1
10 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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