PXE
MCID: PSD087
MIFTS: 68

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 58 12 77 25 54 26 60 76 38 30 13 56 6 45 15 41 74
Gronblad-Strandberg Syndrome 58 12 25 26 76 74
Pxe 58 25 54 26 60 76
Pseudoxanthoma Elasticum, Modifier of Severity of 58 6
Gronblad-Strandberg-Touraine Syndrome 60 76
Groenblad-Strandberg Syndrome 26
Gronblad Strandberg Syndrome 54
Nevus Elasticus 74

Characteristics:

Orphanet epidemiological data:

60
pseudoxanthoma elasticum
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
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:

33
pseudoxanthoma elasticum:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pseudoxanthoma Elasticum

OMIM : 58 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)

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 Degradation of the extracellular matrix. The drugs Magnesium oxide and Ranibizumab have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and heart, and related phenotypes are retinopathy and thickened nuchal skin fold

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.

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 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 : 77 Pseudoxanthoma elasticum (PXE), is a genetic disease that causes fragmentation and mineralization of... 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 147)
# Related Disease Score Top Affiliating Genes
1 pseudoxanthoma elasticum-like papillary dermal elastolysis 34.3 ELN FBN1
2 arterial calcification of infancy 33.0 ABCC6 ENPP1 MGP
3 angioid streaks 31.8 ABCC6 XYLT1 XYLT2
4 elastosis perforans serpiginosa 31.5 ABCC6 ELN
5 late-onset focal dermal elastosis 30.6 ELN FBN1
6 mid-dermal elastolysis 30.5 ELN FBN1
7 calcinosis 30.2 ANKH ENPP1 FBN1 MGP SPP1
8 arteriosclerosis 30.2 ELN MGP SPP1
9 connective tissue disease 30.1 ABCC6 ELN FBN1 IBSP SPP1
10 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency 12.9
11 acquired pseudoxanthoma elasticum 12.5
12 pseudoxanthoma elasticum, forme fruste 12.5
13 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa 12.4
14 arterial calcification, generalized, of infancy, 2 11.8
15 monckeberg arteriosclerosis 11.4
16 thalassemia 10.6
17 beta-thalassemia 10.5
18 cutis laxa 10.5
19 arteries, anomalies of 10.5
20 coronary artery anomaly 10.5
21 calciphylaxis 10.5
22 peripheral vascular disease 10.4
23 vascular disease 10.4
24 sickle cell disease 10.4
25 eastern equine encephalitis 10.4 XYLT1 XYLT2
26 familial abdominal aortic aneurysm 10.3 ELN FBN1
27 rheumatoid arthritis 10.3
28 aging 10.3
29 orthostatic intolerance 10.3
30 arthritis 10.3
31 ehlers-danlos syndrome 10.3
32 restrictive cardiomyopathy 10.3
33 white fibrous papulosis of the neck 10.3
34 chronic actinic dermatitis 10.3 ELN FBN1
35 hereditary combined deficiency of vitamin k-dependent clotting factors 10.3 GGCX VKORC1
36 autosomal recessive cutis laxa type iii 10.3 ELN FBN1
37 superficial urinary bladder cancer 10.3 NOMO1 NOMO2 NOMO3
38 phacogenic glaucoma 10.2 ELN FBN1
39 dentin dysplasia, type ii 10.2 IBSP SPP1
40 marfan syndrome 10.2
41 familial mediterranean fever 10.2
42 retinitis pigmentosa 10.2
43 leber congenital amaurosis 4 10.2
44 myocardial infarction 10.2
45 testicular microlithiasis 10.2
46 nephrolithiasis 10.2
47 intracranial aneurysm 10.2
48 heart disease 10.2
49 nephrocalcinosis 10.2
50 optic nerve disease 10.2

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:

60 33 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 retinopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000488
2 thickened nuchal skin fold 60 33 hallmark (90%) Very frequent (99-80%) HP:0000474
3 abnormality of the cerebral vasculature 60 33 hallmark (90%) Very frequent (99-80%) HP:0100659
4 skin rash 60 33 hallmark (90%) Very frequent (99-80%) HP:0000988
5 arterial stenosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100545
6 retinal hemorrhage 60 33 hallmark (90%) Very frequent (99-80%) HP:0000573
7 excessive wrinkled skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0007392
8 angioid streaks of the fundus 33 hallmark (90%) HP:0001102
9 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
10 striae distensae 60 33 frequent (33%) Frequent (79-30%) HP:0001065
11 bruising susceptibility 60 33 frequent (33%) Frequent (79-30%) HP:0000978
12 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
13 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
14 hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0000822
15 sudden cardiac death 60 33 occasional (7.5%) Occasional (29-5%) HP:0001645
16 cerebral calcification 60 33 occasional (7.5%) Occasional (29-5%) HP:0002514
17 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
18 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
19 subcutaneous nodule 60 33 occasional (7.5%) Occasional (29-5%) HP:0001482
20 angina pectoris 60 33 occasional (7.5%) Occasional (29-5%) HP:0001681
21 pruritus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000989
22 hemiplegia/hemiparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004374
23 joint hyperflexibility 60 33 occasional (7.5%) Occasional (29-5%) HP:0005692
24 abnormality of the thorax 60 33 occasional (7.5%) Occasional (29-5%) HP:0000765
25 acne 60 33 occasional (7.5%) Occasional (29-5%) HP:0001061
26 multiple lipomas 60 33 occasional (7.5%) Occasional (29-5%) HP:0001012
27 mitral valve prolapse 60 33 occasional (7.5%) Occasional (29-5%) HP:0001634
28 telangiectasia of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0100585
29 gastrointestinal hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0002239
30 nephrocalcinosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000121
31 blue sclerae 60 33 occasional (7.5%) Occasional (29-5%) HP:0000592
32 hyperextensible skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0000974
33 atherosclerosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002621
34 postural instability 60 33 occasional (7.5%) Occasional (29-5%) HP:0002172
35 restrictive cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001723
36 metamorphopsia 60 33 occasional (7.5%) Occasional (29-5%) HP:0012508
37 renovascular hypertension 33 occasional (7.5%) HP:0100817
38 dilatation 33 occasional (7.5%) HP:0002617
39 abnormal thrombocyte morphology 33 occasional (7.5%) HP:0001872
40 abnormal endocardium morphology 33 occasional (7.5%) HP:0004306
41 renal insufficiency 33 HP:0000083
42 malformation of the heart and great vessels 60 Very frequent (99-80%)
43 congestive heart failure 33 HP:0001635
44 lack of skin elasticity 60 Very frequent (99-80%)
45 reduced visual acuity 33 HP:0007663
46 abnormality of the endocardium 60 Occasional (29-5%)
47 abnormality of the mouth 33 HP:0000153
48 abnormality of thrombocytes 60 Occasional (29-5%)
49 macular degeneration 33 HP:0000608
50 stroke 33 HP:0001297

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
angina pectoris
coronary artery disease
accelerated atherosclerosis
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 ABCA3 ABCC6 ALPL ANKH ENPP1 FBN1
2 homeostasis/metabolism MP:0005376 10.1 ABCA3 ABCC1 ABCC2 ABCC6 ALPL ANKH
3 hematopoietic system MP:0005397 10.06 ABCC1 ABCC2 ALPL ANKH FBN1 GGCX
4 craniofacial MP:0005382 9.85 ALPL ANKH FBN1 IBSP SPP1 XYLT1
5 limbs/digits/tail MP:0005371 9.7 ALPL ANKH ENPP1 FBN1 IBSP VKORC1
6 renal/urinary system MP:0005367 9.56 ABCA3 ABCC2 ABCC6 ENPP1 FBN1 MGP
7 skeleton MP:0005390 9.32 ALPL ANKH ENPP1 FBN1 GGCX IBSP

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
Magnesium oxide Approved Phase 2 1309-48-4 14792
2
Ranibizumab Approved Phase 2,Phase 1 347396-82-1 459903
3 Antacids Phase 2
4 Anti-Ulcer Agents Phase 2
5 Gastrointestinal Agents Phase 2
6 Magnesium Supplement Phase 2
7 Endothelial Growth Factors Phase 2
8 Mitogens Phase 2
9 Angiogenesis Inhibitors Phase 2,Phase 1
10 Angiogenesis Modulating Agents Phase 2,Phase 1
11
Phylloquinone Approved, Investigational Not Applicable 84-80-0
12 Menaquinone Approved, Investigational Not Applicable 1182-68-9
13
Calcium Approved, Nutraceutical ,Not Applicable 7440-70-2 271
14
Menadione Approved, Nutraceutical Not Applicable 58-27-5 4055
15 Hormones
16 Calcium, Dietary ,Not Applicable
17 Fluorodeoxyglucose F18 Not Applicable
18 Micronutrients Not Applicable
19 Vitamins Not Applicable
20 Antifibrinolytic Agents Not Applicable
21 Hemostatics Not Applicable
22 Coagulants Not Applicable
23 Vitamin K 2 Not Applicable
24 Vitamin MK 7 Not Applicable
25 Nutrients Not Applicable
26 naphthoquinone Not Applicable
27 Vitamin K Not Applicable
28 Trace Elements Not Applicable

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Magnesium Supplements In The Treatment Of Pseudoxanthoma Elasticum (PXE) Completed NCT01525875 Phase 2 Magnesium Oxide;Placebo
2 Intravitreal Aflibercept for Therapy of Patients With Pseudoxanthoma Elasticum (PXE) Completed NCT02537054 Phase 2 Aflibercept
3 Ranibizumab to Treat Choroidal Neovascularization (CNV) in Patients With Pseudoxanthoma Elasticum (PXE) Completed NCT00510965 Phase 2 Intravitreal injection ranibizumab
4 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy Completed NCT00470977 Phase 1, Phase 2 ranibizumab injection (0.5 mg)
5 Phase II Study Evaluating the Efficacy of Aflibercept for the Treatment of Choroidal Neovascularization in Angioid Streaks in Young Patients (ASTRID). Withdrawn NCT02573038 Phase 2 Aflibercept
6 Arterial Wall Calcium Load in Pseudoxanthoma Elasticum Unknown status NCT01731080
7 Evolution of Visual Impairment During Pseudoxanthoma Elasticum Completed NCT00555113
8 Functional and Structural Characterization of Arteriopathy in Pseudoxanthoma Elasticum (PXE) Completed NCT01446393
9 What's Happen Under the Calcification Process in Pseudoxanthoma Elasticum Completed NCT03070860 Not Applicable
10 Genetic Analysis of Patients With Pseudoxanthoma Elasticum Completed NCT00341419
11 Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort Recruiting NCT01446380
12 Intestinal Microbiota and Vitamin K Levels in PXE Patients (IMPROVE Study) Recruiting NCT03813550 Not Applicable
13 Natural History of GACI With or Without ARHR2 or PXE Recruiting NCT03758534
14 Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Recruiting NCT03478839
15 Characterization of Pseudoxanthoma Elasticum Active, not recruiting NCT02108392
16 Biological Collection of Kidney Cells Not yet recruiting NCT03364504 Not Applicable
17 Tissue-nonspecific Alkaline Phosphatase in Phosphate and Pyrophosphate Homeostasis. Not yet recruiting NCT03520738 Not Applicable

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 30 ABCC6 XYLT1 XYLT2

Anatomical Context for Pseudoxanthoma Elasticum

MalaCards organs/tissues related to Pseudoxanthoma Elasticum:

42
Skin, Eye, Heart, Retina, Endothelial, Thyroid, Kidney

Publications for Pseudoxanthoma Elasticum

Articles related to Pseudoxanthoma Elasticum:

(show top 50) (show all 934)
# Title Authors Year
1
Accelerated peripheral vascular aging in pseudoxanthoma elasticum - proof of concept for arterial calcification-induced cardiovascular disease. ( 30745467 )
2019
2
Choroidal Neovascularization Resulting from Angioid Streaks in Pseudoxanthoma Elasticum. ( 30929814 )
2019
3
Calciphylaxis and nephrogenic fibrosing dermopathy with pseudoxanthoma elasticum-like changes: Successful treatment with sodium thiosulfate. ( 30663093 )
2019
4
D-penicillamine-induced pseudo-pseudoxanthoma elasticum and extensive elastosis perforans serpiginosa with excellent response to acitretin. ( 30712052 )
2019
5
The prevalence of pseudoxanthoma elasticum: Revised estimations based on genotyping in a high vascular risk cohort. ( 29800625 )
2019
6
Pseudoxanthoma elasticum-like papillary dermal elastolysis: a case report and review of literature. ( 29907963 )
2019
7
Pseudoxanthoma elasticum. ( 30001896 )
2019
8
The extent of pseudoxanthoma elasticum skin changes is related to cardiovascular complications and visual loss: a cross-sectional study. ( 30117153 )
2019
9
Retinal imaging including optical coherence tomography angiography for detecting active choroidal neovascularization in pseudoxanthoma elasticum. ( 30168640 )
2019
10
Pseudoxanthoma elasticum: Dermoscopy and mutation analysis. ( 30229859 )
2019
11
Unexpected ABCC6 mRNA splicing in a Chinese family with pseudoxanthoma elasticum. ( 30328268 )
2019
12
Dietary Pyrophosphate Modulates Calcification in a Mouse Model of Pseudoxanthoma Elasticum: Implication for Treatment of Patients. ( 30468740 )
2019
13
Anti-VEGF treatment for choroidal neovascularization complicating pattern dystrophy-like deposit associated with pseudoxanthoma elasticum. ( 30470876 )
2019
14
Classic pseudoxanthoma elasticum in a girl with sickle cell disease. ( 30537162 )
2019
15
Cellular signaling in pseudoxanthoma elasticum: an update. ( 30615970 )
2019
16
Internal Carotid Artery Hypoplasia: A New Clinical Feature in Pseudoxanthoma Elasticum. ( 30732446 )
2019
17
Dermoscopic phenotype of pseudoxanthoma elasticum skin lesions: a study of 16 patients. ( 30803054 )
2019
18
Whole exome sequencing identified three ABCC6 variants in two Pakistani families with pseudoxanthoma elasticum phenotype. ( 30805891 )
2019
19
Magnesium Supplementation in the Treatment of Pseudoxanthoma Elasticum (PXE); a randomized trial. ( 30826287 )
2019
20
A study of optic nerve head drusen in 38 pseudoxanthoma elasticum (PXE) patients (64 eyes). Location of optic nerve head drusen in PXE. ( 30879837 )
2019
21
PXE, a Mysterious Inborn Error Clarified. ( 30446375 )
2019
22
Pseudoxanthoma elasticum-like papillary dermal elastolysis in frontal fibrosing alopecia. ( 30058767 )
2018
23
MULTIMODAL IMAGING OF FOCAL CHOROIDAL EXCAVATION COMPLICATED BY CHOROIDAL NEOVASCULARIZATION IN A PATIENT WITH ANGIOID STREAKS AND PSEUDOXANTHOMA ELASTICUM. ( 29965887 )
2018
24
PSEUDOXANTHOMA ELASTICUM: SUCCESSFUL LONG-TERM MANAGEMENT OF CHOROIDAL NEOVASCULARIZATION SECONDARY TO ANGIOID STREAKS WITH PRO RE NATA INTRAVITREAL BEVACIZUMAB INJECTIONS. ( 30048402 )
2018
25
PNEUMATIC COMPACTION TREATMENT OF ACUTE SUBFOVEAL HEMORRHAGE AFTER BLUNT TRAUMA IN A PATIENT WITH ANGIOID STREAKS ASSOCIATED WITH PSEUDOXANTHOMA ELASTICUM. ( 30300312 )
2018
26
Angioid streaks in pseudoxanthoma elasticum. ( 30580324 )
2018
27
Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity. ( 29175035 )
2018
28
Calciphylaxis with pseudoxanthoma elasticum-like changes: A case series. ( 29086985 )
2018
29
Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum. ( 29480367 )
2018
30
Intra-operative radiotherapy management for breast cancer treatment in patients with pseudoxanthoma elasticum: A case report. ( 29105951 )
2018
31
Dermoscopic features of pseudoxanthoma elasticum. ( 29271496 )
2018
32
18F-Flurodeoxyglucose and 18F-Sodium Fluoride Positron Emission Tomography/Computed Tomography Imaging of Arterial and Cutaneous Alterations in Pseudoxanthoma Elasticum. ( 29321214 )
2018
33
Chorioretinal Punched-Out Lesions in Pseudoxanthoma Elasticum. ( 29370032 )
2018
34
"Comet-tail" lesions of pseudoxanthoma elasticum. ( 29380784 )
2018
35
Arterial stiffening and thickening in patients with pseudoxanthoma elasticum. ( 29432933 )
2018
36
Clinical utility gene card: for pseudoxanthoma elasticum. ( 29487417 )
2018
37
Alteration of Extracellular Nucleotide Metabolism in Pseudoxanthoma Elasticum. ( 29501384 )
2018
38
Etidronate for Prevention of Ectopic Mineralization in Patients With Pseudoxanthoma Elasticum. ( 29519353 )
2018
39
Vascular Mineralization in Pseudoxanthoma Elasticum: Etidronate to the Rescue? ( 29519354 )
2018
40
Segregation analysis revealed hemizygotic causative mutations in a pseudoxanthoma elasticum patient. ( 29524272 )
2018
41
Carotid strain measurement in patients with pseudoxanthoma elasticum - Hint for a different pathomechanism? ( 29552442 )
2018
42
Ophthalmologic manifestations of pseudoxanthoma elasticum. ( 29563708 )
2018
43
Prevalence of shoulder calcification in pseudoxanthoma elasticum patients. ( 29631070 )
2018
44
VISUAL ACUITY IN PSEUDOXANTHOMA ELASTICUM. ( 29652691 )
2018
45
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum. ( 29709427 )
2018
46
The Effects of Parenteral K1 Administration in Pseudoxanthoma Elasticum Patients Versus Controls. A Pilot Study. ( 29713628 )
2018
47
Periumbilical perforating pseudoxanthoma elasticum: a rare case report. ( 29785322 )
2018
48
The amount of calcifications in pseudoxanthoma elasticum patients is underestimated in computed tomographic imaging; a post-mortem correlation of histological and computed tomographic findings in two cases. ( 29858817 )
2018
49
Pseudoxanthoma elasticum in Italy: epidemiological and clinical aspects. ( 29963809 )
2018
50
Etidronate prevents, but does not reverse, ectopic mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/- ). ( 30112102 )
2018

Variations for Pseudoxanthoma Elasticum

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

76 (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

ClinVar genetic disease variations for Pseudoxanthoma Elasticum:

6 (show top 50) (show all 753)
# Gene Variation Type Significance SNP ID Assembly Location
1 XYLT2 NM_022167.3(XYLT2): c.2402C> G (p.Thr801Arg) single nucleotide variant risk factor rs6504649 GRCh37 Chromosome 17, 48437456: 48437456
2 XYLT2 NM_022167.3(XYLT2): c.2402C> G (p.Thr801Arg) single nucleotide variant risk factor rs6504649 GRCh38 Chromosome 17, 50360095: 50360095
3 XYLT1 NM_022166.3(XYLT1): c.343G> T (p.Ala115Ser) single nucleotide variant Benign rs61758388 GRCh37 Chromosome 16, 17564311: 17564311
4 XYLT1 NM_022166.3(XYLT1): c.343G> T (p.Ala115Ser) single nucleotide variant Benign rs61758388 GRCh38 Chromosome 16, 17470454: 17470454
5 ABCC6 NM_001171.5(ABCC6): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72653706 GRCh37 Chromosome 16, 16256935: 16256935
6 ABCC6 NM_001171.5(ABCC6): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72653706 GRCh38 Chromosome 16, 16163078: 16163078
7 ABCC6 NM_001171.5(ABCC6): c.2787+1G> T single nucleotide variant Pathogenic rs72664209 GRCh37 Chromosome 16, 16267140: 16267140
8 ABCC6 NM_001171.5(ABCC6): c.2787+1G> T single nucleotide variant Pathogenic rs72664209 GRCh38 Chromosome 16, 16173283: 16173283
9 ABCC6 NM_001171.5(ABCC6): c.3413G> A (p.Arg1138Gln) single nucleotide variant Pathogenic rs60791294 GRCh37 Chromosome 16, 16256943: 16256943
10 ABCC6 NM_001171.5(ABCC6): c.3413G> A (p.Arg1138Gln) single nucleotide variant Pathogenic rs60791294 GRCh38 Chromosome 16, 16163086: 16163086
11 ABCC6 NM_001171.5(ABCC6): c.3341G> C (p.Arg1114Pro) single nucleotide variant Pathogenic rs63750427 GRCh37 Chromosome 16, 16257015: 16257015
12 ABCC6 NM_001171.5(ABCC6): c.3341G> C (p.Arg1114Pro) single nucleotide variant Pathogenic rs63750427 GRCh38 Chromosome 16, 16163158: 16163158
13 ABCC6 NM_001171.5(ABCC6): c.3775delT (p.Trp1259Glyfs) deletion Pathogenic rs72664233 GRCh37 Chromosome 16, 16251627: 16251627
14 ABCC6 NM_001171.5(ABCC6): c.3775delT (p.Trp1259Glyfs) deletion Pathogenic rs72664233 GRCh38 Chromosome 16, 16157770: 16157770
15 ABCC6 NM_001171.5(ABCC6): c.3940C> T (p.Arg1314Trp) single nucleotide variant Pathogenic rs63750759 GRCh37 Chromosome 16, 16248831: 16248831
16 ABCC6 NM_001171.5(ABCC6): c.3940C> T (p.Arg1314Trp) single nucleotide variant Pathogenic rs63750759 GRCh38 Chromosome 16, 16154974: 16154974
17 ABCC6 NM_001171.5(ABCC6): c.4243_4244insAGAA (p.Ala1415Glufs) insertion Pathogenic rs387906352 GRCh37 Chromosome 16, 16244594: 16244595
18 ABCC6 NM_001171.5(ABCC6): c.4243_4244insAGAA (p.Ala1415Glufs) insertion Pathogenic rs387906352 GRCh38 Chromosome 16, 16150737: 16150738
19 ABCC6 NC_000016.10: g.(?_15703134)_(16223472_?)del deletion Pathogenic GRCh37 Chromosome 16, 15796991: 16317329
20 ABCC6 NC_000016.10: g.(?_15703134)_(16223472_?)del deletion Pathogenic GRCh38 Chromosome 16, 15703134: 16223472
21 ABCC6 NM_001171.5(ABCC6): c.3389C> T (p.Thr1130Met) single nucleotide variant Pathogenic/Likely pathogenic rs63750459 GRCh37 Chromosome 16, 16256967: 16256967
22 ABCC6 NM_001171.5(ABCC6): c.3389C> T (p.Thr1130Met) single nucleotide variant Pathogenic/Likely pathogenic rs63750459 GRCh38 Chromosome 16, 16163110: 16163110
23 ABCC6 NM_001171.5(ABCC6): c.3803G> A (p.Arg1268Gln) single nucleotide variant Benign rs2238472 GRCh37 Chromosome 16, 16251599: 16251599
24 ABCC6 NM_001171.5(ABCC6): c.3803G> A (p.Arg1268Gln) single nucleotide variant Benign rs2238472 GRCh38 Chromosome 16, 16157742: 16157742
25 ABCC6 NM_001171.5(ABCC6): c.3412C> T (p.Arg1138Trp) single nucleotide variant Pathogenic rs28939701 GRCh37 Chromosome 16, 16256944: 16256944
26 ABCC6 NM_001171.5(ABCC6): c.3412C> T (p.Arg1138Trp) single nucleotide variant Pathogenic rs28939701 GRCh38 Chromosome 16, 16163087: 16163087
27 ABCC6 NM_001171.5(ABCC6): c.3490C> T (p.Arg1164Ter) single nucleotide variant Pathogenic rs72653744 GRCh37 Chromosome 16, 16256866: 16256866
28 ABCC6 NM_001171.5(ABCC6): c.3490C> T (p.Arg1164Ter) single nucleotide variant Pathogenic rs72653744 GRCh38 Chromosome 16, 16163009: 16163009
29 ABCC6 NG_007558.2: g.(60799_60814)_(77206_77221)del deletion Pathogenic GRCh38 Chromosome 16, 16151251: 16167673
30 ABCC6 NG_007558.2: g.(60799_60814)_(77206_77221)del deletion Pathogenic GRCh37 Chromosome 16, 16245108: 16261530
31 ABCC6 NM_001171.5(ABCC6): c.3736-1G> A single nucleotide variant Pathogenic rs63750273 GRCh37 Chromosome 16, 16251667: 16251667
32 ABCC6 NM_001171.5(ABCC6): c.3736-1G> A single nucleotide variant Pathogenic rs63750273 GRCh38 Chromosome 16, 16157810: 16157810
33 ABCC6 NM_001171.5(ABCC6): c.4015C> T (p.Arg1339Cys) single nucleotide variant Pathogenic rs28939702 GRCh37 Chromosome 16, 16248756: 16248756
34 ABCC6 NM_001171.5(ABCC6): c.4015C> T (p.Arg1339Cys) single nucleotide variant Pathogenic rs28939702 GRCh38 Chromosome 16, 16154899: 16154899
35 ABCC6 NM_001171.5(ABCC6): c.4375C> T (p.Arg1459Cys) single nucleotide variant Uncertain significance rs72547524 GRCh37 Chromosome 16, 16244463: 16244463
36 ABCC6 NM_001171.5(ABCC6): c.4375C> T (p.Arg1459Cys) single nucleotide variant Uncertain significance rs72547524 GRCh38 Chromosome 16, 16150606: 16150606
37 ABCC6 NM_001171.5(ABCC6): c.3892G> T (p.Val1298Phe) single nucleotide variant Pathogenic rs63751325 GRCh37 Chromosome 16, 16248879: 16248879
38 ABCC6 NM_001171.5(ABCC6): c.3892G> T (p.Val1298Phe) single nucleotide variant Pathogenic rs63751325 GRCh38 Chromosome 16, 16155022: 16155022
39 ABCC6 NM_001171.5(ABCC6): c.3904G> A (p.Gly1302Arg) single nucleotide variant Pathogenic rs63749856 GRCh37 Chromosome 16, 16248867: 16248867
40 ABCC6 NM_001171.5(ABCC6): c.3904G> A (p.Gly1302Arg) single nucleotide variant Pathogenic rs63749856 GRCh38 Chromosome 16, 16155010: 16155010
41 ABCC6 NM_001171.5(ABCC6): c.3961G> A (p.Gly1321Ser) single nucleotide variant Pathogenic rs63749823 GRCh37 Chromosome 16, 16248810: 16248810
42 ABCC6 NM_001171.5(ABCC6): c.3961G> A (p.Gly1321Ser) single nucleotide variant Pathogenic rs63749823 GRCh38 Chromosome 16, 16154953: 16154953
43 ABCC6 NM_001171.5(ABCC6): c.3712G> C (p.Asp1238His) single nucleotide variant Pathogenic rs63749796 GRCh37 Chromosome 16, 16253362: 16253362
44 ABCC6 NM_001171.5(ABCC6): c.3712G> C (p.Asp1238His) single nucleotide variant Pathogenic rs63749796 GRCh38 Chromosome 16, 16159505: 16159505
45 ABCC6 NM_001171.5(ABCC6): c.2294G> A (p.Arg765Gln) single nucleotide variant Pathogenic rs67561842 GRCh37 Chromosome 16, 16272776: 16272776
46 ABCC6 NM_001171.5(ABCC6): c.2294G> A (p.Arg765Gln) single nucleotide variant Pathogenic rs67561842 GRCh38 Chromosome 16, 16178919: 16178919
47 ABCC6 NM_001171.5(ABCC6): c.4216C> A (p.Gln1406Lys) single nucleotide variant Pathogenic rs387906859 GRCh37 Chromosome 16, 16244622: 16244622
48 ABCC6 NM_001171.5(ABCC6): c.4216C> A (p.Gln1406Lys) single nucleotide variant Pathogenic rs387906859 GRCh38 Chromosome 16, 16150765: 16150765
49 ABCC6 NM_001171.5(ABCC6): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs72650700 GRCh37 Chromosome 16, 16284104: 16284104
50 ABCC6 NM_001171.5(ABCC6): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs72650700 GRCh38 Chromosome 16, 16190247: 16190247

Copy number variations for Pseudoxanthoma Elasticum from CNVD:

7
# CNVD ID Chromosom 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:

38
# Name Kegg Source Accession
1 ABC transporters hsa02010

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 endoplasmic reticulum membrane GO:0005789 9.88 ABCC6 GGCX NOMO1 NOMO2 NOMO3 VKORC1
2 extracellular space GO:0005615 9.81 ABCA3 ALPL ENPP1 FBN1 IBSP SPP1
3 extracellular region GO:0005576 9.65 ALPL ELN ENPP1 FBN1 IBSP MGP
4 collagen-containing extracellular matrix GO:0062023 9.62 ELN FBN1 MGP VTN
5 extracellular matrix GO:0031012 9.02 ALPL ELN FBN1 MGP VTN
6 membrane GO:0016020 10.24 ABCA3 ABCC1 ABCC2 ABCC6 ALPL ANKH
7 integral component of membrane GO:0016021 10.07 ABCA3 ABCC1 ABCC2 ABCC6 ANKH ENPP1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.85 ABCA3 ABCC1 ABCC2 ABCC6 ANKH
2 response to drug GO:0042493 9.81 ABCA3 ABCC1 ABCC2 ABCC6
3 skeletal system development GO:0001501 9.74 ALPL ANKH FBN1
4 osteoblast differentiation GO:0001649 9.65 ALPL IBSP SPP1
5 chondroitin sulfate biosynthetic process GO:0030206 9.56 XYLT1 XYLT2
6 drug transmembrane transport GO:0006855 9.55 ABCC1 ABCC2
7 cell adhesion mediated by integrin GO:0033627 9.54 FBN1 VTN
8 response to vitamin D GO:0033280 9.52 ALPL SPP1
9 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.49 XYLT1 XYLT2
10 proteoglycan biosynthetic process GO:0030166 9.43 XYLT1 XYLT2
11 glycosaminoglycan metabolic process GO:0030203 9.4 XYLT1 XYLT2
12 chondroitin sulfate proteoglycan biosynthetic process GO:0050650 9.37 XYLT1 XYLT2
13 extracellular matrix organization GO:0030198 9.35 ELN FBN1 IBSP SPP1 VTN
14 regulation of bone mineralization GO:0030500 9.33 ANKH ENPP1 MGP
15 inorganic diphosphate transport GO:0030505 9.32 ANKH ENPP1
16 peptidyl-glutamic acid carboxylation GO:0017187 9.26 GGCX VKORC1
17 biomineral tissue development GO:0031214 8.92 ALPL ENPP1 IBSP SPP1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.67 ABCA3 ABCC1 ABCC2 ABCC6
2 transmembrane transporter activity GO:0022857 9.65 ABCC1 ABCC2 ABCC6
3 integrin binding GO:0005178 9.63 FBN1 IBSP VTN
4 transporter activity GO:0005215 9.58 ABCA3 ABCC1 ABCC6
5 acetylglucosaminyltransferase activity GO:0008375 9.49 XYLT1 XYLT2
6 extracellular matrix structural constituent GO:0005201 9.46 ELN FBN1 MGP VTN
7 polysaccharide binding GO:0030247 9.43 ENPP1 VTN
8 extracellular matrix constituent conferring elasticity GO:0030023 9.32 ELN FBN1
9 protein xylosyltransferase activity GO:0030158 9.26 XYLT1 XYLT2
10 extracellular matrix binding GO:0050840 9.13 ELN SPP1 VTN
11 ATPase activity, coupled to transmembrane movement of substances GO:0042626 8.92 ABCA3 ABCC1 ABCC2 ABCC6

Sources for Pseudoxanthoma Elasticum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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