MCID: PSD087
MIFTS: 67

Pseudoxanthoma Elasticum

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

Aliases & Classifications for Pseudoxanthoma Elasticum

MalaCards integrated aliases for Pseudoxanthoma Elasticum:

Name: Pseudoxanthoma Elasticum 57 12 76 24 53 25 59 75 37 29 13 55 6 44 15 40 73
Gronblad-Strandberg Syndrome 57 12 24 25 75 73
Pxe 57 24 53 25 59 75
Pseudoxanthoma Elasticum, Modifier of Severity of 57 6
Gronblad-Strandberg-Touraine Syndrome 59 75
Groenblad-Strandberg Syndrome 25
Gronblad Strandberg Syndrome 53
Nevus Elasticus 73

Characteristics:

Orphanet epidemiological data:

59
pseudoxanthoma elasticum
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
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:

32
pseudoxanthoma elasticum:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pseudoxanthoma Elasticum

OMIM : 57 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 angioid streaks, 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 retina, and related phenotypes are high palate and hypothyroidism

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

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.

Disease Ontology : 12 An autosomal recessive disease 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.

Wikipedia : 76 Pseudoxanthoma elasticum (PXE), also known as Grönblad–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 128)
# Related Disease Score Top Affiliating Genes
1 pseudoxanthoma elasticum-like papillary dermal elastolysis 34.5 ELN FBN1
2 angioid streaks 32.0 ABCC6 XYLT1 XYLT2
3 elastosis perforans serpiginosa 31.7 ABCC6 ELN
4 late-onset focal dermal elastosis 30.8 ELN FBN1
5 mid-dermal elastolysis 30.7 ELN FBN1
6 arterial calcification of infancy 30.4 ABCC6 ENPP1
7 connective tissue disease 29.5 ABCC6 ELN FBN1 IBSP SPP1
8 calcinosis 28.4 ANKH ENPP1 FBN1 MGP SPP1
9 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency 12.7
10 acquired pseudoxanthoma elasticum 12.3
11 pseudoxanthoma elasticum, forme fruste 12.3
12 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa 12.2
13 arterial calcification, generalized, of infancy, 2 11.2
14 monckeberg arteriosclerosis 11.2
15 eastern equine encephalitis 10.7 XYLT1 XYLT2
16 hereditary combined deficiency of vitamin k-dependent clotting factors 10.6 GGCX VKORC1
17 familial abdominal aortic aneurysm 10.6 ELN FBN1
18 chronic actinic dermatitis 10.6 ELN FBN1
19 superficial urinary bladder cancer 10.6 NOMO1 NOMO2 NOMO3
20 choroiditis 10.5
21 phacogenic glaucoma 10.4 ELN FBN1
22 dentin dysplasia, type ii 10.4 IBSP SPP1
23 dental pulp calcification 10.4 FBN1 SPP1
24 cutis laxa 10.3
25 vitamin k deficiency hemorrhagic disease 10.3 GGCX MGP VKORC1
26 autosomal recessive hypophosphatemic rickets 10.3 ENPP1 IBSP
27 optic disk drusen 10.3 ABCC6 ELN
28 retinitis 10.3
29 macular degeneration, age-related, 1 10.3
30 thalassemia 10.2
31 calciphylaxis 10.2
32 aortic valve disease 1 10.2 ELN FBN1 SPP1
33 hypercementosis 10.2 ENPP1 SPP1
34 nephrolithiasis, calcium oxalate 10.2 IBSP MGP SPP1
35 arteries, anomalies of 10.1
36 beta-thalassemia 10.1
37 skin disease 10.1
38 vascular disease 10.1
39 restrictive cardiomyopathy 10.1
40 aneurysm 10.1
41 white fibrous papulosis of the neck 10.1
42 arteriosclerosis 10.1 ELN MGP SPP1
43 marfan syndrome 10.0
44 retinitis pigmentosa 10.0
45 aging 10.0
46 leber congenital amaurosis 4 10.0
47 nephrolithiasis 10.0
48 nephrocalcinosis 10.0
49 lung disease 10.0
50 chorioretinitis 10.0

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



Diseases related to Pseudoxanthoma Elasticum

Symptoms & Phenotypes for Pseudoxanthoma Elasticum

Symptoms via clinical synopsis from OMIM:

57
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
central vision loss
choroidal neovascularization
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

Human phenotypes related to Pseudoxanthoma Elasticum:

59 32 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
2 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
3 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
4 sudden cardiac death 59 32 occasional (7.5%) Occasional (29-5%) HP:0001645
5 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
6 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
7 visual impairment 59 32 frequent (33%) Occasional (29-5%) HP:0000505
8 retinopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000488
9 subcutaneous nodule 59 32 occasional (7.5%) Occasional (29-5%) HP:0001482
10 angina pectoris 59 32 occasional (7.5%) Occasional (29-5%) HP:0001681
11 pruritus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000989
12 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
13 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
14 abnormality of the thorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0000765
15 acne 59 32 occasional (7.5%) Occasional (29-5%) HP:0001061
16 thickened nuchal skin fold 59 32 hallmark (90%) Very frequent (99-80%) HP:0000474
17 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
18 multiple lipomas 59 32 occasional (7.5%) Occasional (29-5%) HP:0001012
19 telangiectasia of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0100585
20 abnormality of the cerebral vasculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0100659
21 striae distensae 59 32 frequent (33%) Frequent (79-30%) HP:0001065
22 mitral valve prolapse 59 32 occasional (7.5%) Occasional (29-5%) HP:0001634
23 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
24 nephrocalcinosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000121
25 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
26 bruising susceptibility 59 32 frequent (33%) Frequent (79-30%) HP:0000978
27 arterial stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100545
28 blue sclerae 59 32 occasional (7.5%) Occasional (29-5%) HP:0000592
29 hyperextensible skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000974
30 retinal hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0000573
31 atherosclerosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002621
32 postural instability 59 32 occasional (7.5%) Occasional (29-5%) HP:0002172
33 excessive wrinkled skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0007392
34 restrictive cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001723
35 metamorphopsia 59 32 occasional (7.5%) Occasional (29-5%) HP:0012508
36 renal insufficiency 32 HP:0000083
37 malformation of the heart and great vessels 59 Very frequent (99-80%)
38 congestive heart failure 32 HP:0001635
39 lack of skin elasticity 59 Very frequent (99-80%)
40 reduced visual acuity 32 HP:0007663
41 abnormality of the endocardium 59 Occasional (29-5%)
42 abnormality of the mouth 32 HP:0000153
43 abnormality of thrombocytes 59 Occasional (29-5%)
44 macular degeneration 32 HP:0000608
45 stroke 32 HP:0001297
46 renovascular hypertension 32 occasional (7.5%) HP:0100817
47 hypermelanotic macule 32 HP:0001034
48 aneurysm 59 Occasional (29-5%)
49 abnormality of the skin 59 Very frequent (99-80%)
50 mitral stenosis 32 HP:0001718

UMLS symptoms related to Pseudoxanthoma Elasticum:


angina pectoris

MGI Mouse Phenotypes related to Pseudoxanthoma Elasticum:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.1 ABCC1 ABCC2 ABCC6 ALPL ANKH CFTR
2 cardiovascular system MP:0005385 10.06 SPP1 VKORC1 FBN1 GGCX MGP ABCC6
3 hematopoietic system MP:0005397 10.06 ABCC2 ALPL ANKH CFTR FBN1 GGCX
4 craniofacial MP:0005382 9.91 ALPL ANKH CFTR FBN1 IBSP SPP1
5 limbs/digits/tail MP:0005371 9.63 ALPL ANKH FBN1 IBSP VKORC1 XYLT1
6 renal/urinary system MP:0005367 9.5 ABCC2 ABCC6 ENPP1 FBN1 MGP SPP1
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 12)
# 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 Angiogenesis Inhibitors Phase 2,Phase 1
7 Angiogenesis Modulating Agents Phase 2,Phase 1
8 Endothelial Growth Factors Phase 2
9 Mitogens Phase 2
10 Magnesium Supplement Nutraceutical Phase 2
11 Calcium, Dietary ,Not Applicable
12 Fluorodeoxyglucose F18 Not Applicable

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Magnesium Supplements In The Treatment Of Pseudoxanthoma Elasticum (PXE) Completed NCT01525875 Phase 2 Magnesium Oxide;Placebo
2 Ranibizumab to Treat Choroidal Neovascularization (CNV) in Patients With Pseudoxanthoma Elasticum (PXE) Completed NCT00510965 Phase 2 Intravitreal injection ranibizumab
3 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)
4 Intravitreal Aflibercept for Therapy of Patients With Pseudoxanthoma Elasticum (PXE) Active, not recruiting NCT02537054 Phase 2 Aflibercept
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 Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) Recruiting NCT03478839
13 Characterization of Pseudoxanthoma Elasticum Active, not recruiting NCT02108392
14 Biological Collection of Kidney Cells Not yet recruiting NCT03364504 Not Applicable
15 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 29 ABCC6 XYLT1 XYLT2

Anatomical Context for Pseudoxanthoma Elasticum

MalaCards organs/tissues related to Pseudoxanthoma Elasticum:

41
Skin, Eye, Retina, Heart, Endothelial, Kidney, Liver

Publications for Pseudoxanthoma Elasticum

Articles related to Pseudoxanthoma Elasticum:

(show top 50) (show all 383)
# Title Authors Year
1
"Comet-tail" lesions of pseudoxanthoma elasticum. ( 29380784 )
2018
2
Carotid strain measurement in patients with pseudoxanthoma elasticum - Hint for a different pathomechanism? ( 29552442 )
2018
3
Clinical utility gene card: for pseudoxanthoma elasticum. ( 29487417 )
2018
4
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum. ( 29709427 )
2018
5
Ophthalmologic manifestations of pseudoxanthoma elasticum. ( 29563708 )
2018
6
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
7
Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity. ( 29175035 )
2018
8
Pseudoxanthoma elasticum-like papillary dermal elastolysis: a case report and review of literature. ( 29907963 )
2018
9
Calciphylaxis with pseudoxanthoma elasticum-like changes: A case series. ( 29086985 )
2018
10
18F-Flurodeoxyglucose and 18F-Sodium Fluoride Positron Emission Tomography/Computed Tomography Imaging of Arterial and Cutaneous Alterations in Pseudoxanthoma Elasticum. ( 29321214 )
2018
11
Segregation analysis revealed hemizygotic causative mutations in a pseudoxanthoma elasticum patient. ( 29524272 )
2018
12
The prevalence of pseudoxanthoma elasticum: Revised estimations based on genotyping in a high vascular risk cohort. ( 29800625 )
2018
13
VISUAL ACUITY IN PSEUDOXANTHOMA ELASTICUM. ( 29652691 )
2018
14
Pseudoxanthoma elasticum in Italy: epidemiological and clinical aspects. ( 29963809 )
2018
15
Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum. ( 29480367 )
2018
16
Prevalence of shoulder calcification in pseudoxanthoma elasticum patients. ( 29631070 )
2018
17
Vascular Mineralization in Pseudoxanthoma Elasticum: Etidronate to the Rescue? ( 29519354 )
2018
18
MULTIMODAL IMAGING OF FOCAL CHOROIDAL EXCAVATION COMPLICATED BY CHOROIDAL NEOVASCULARIZATION IN A PATIENT WITH ANGIOID STREAKS AND PSEUDOXANTHOMA ELASTICUM. ( 29965887 )
2018
19
Periumbilical perforating pseudoxanthoma elasticum: a rare case report. ( 29785322 )
2018
20
Dermoscopic features of pseudoxanthoma elasticum. ( 29271496 )
2018
21
The Effects of Parenteral K1 Administration in Pseudoxanthoma Elasticum Patients Versus Controls. A Pilot Study. ( 29713628 )
2018
22
Arterial stiffening and thickening in patients with pseudoxanthoma elasticum. ( 29432933 )
2018
23
Alteration of Extracellular Nucleotide Metabolism in Pseudoxanthoma Elasticum. ( 29501384 )
2018
24
Chorioretinal Punched-Out Lesions in Pseudoxanthoma Elasticum. ( 29370032 )
2018
25
Pseudoxanthoma elasticum-like changes in nonuremic calciphylaxis: Case series and brief review of a helpful diagnostic clue. ( 28869660 )
2017
26
Pseudoxanthoma elasticum. ( 28486967 )
2017
27
Dermoscopy of pseudoxanthoma elasticum. ( 29127123 )
2017
28
Ranibizumab for choroidal neovascularization secondary to pseudoxanthoma elasticum: 4-year results from the PIXEL study in France. ( 28493086 )
2017
29
Pseudoxanthoma Elasticum-Like in I^-Thalassemia Major, a matter of I+-Klotho and Parathyroid Hormone? ( 29226737 )
2017
30
Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis. ( 28282240 )
2017
31
Bidimensional unconstrained optimization approach to EMD: An algorithm revealing skin perfusion alterations in pseudoxanthoma elasticum patients. ( 28254079 )
2017
32
CHORIOCAPILLARIS SIGNAL VOIDS IN MATERNALLY INHERITED DIABETES AND DEAFNESS AND IN PSEUDOXANTHOMA ELASTICUM. ( 28092344 )
2017
33
Increased vascular occlusion in patients with pseudoxanthoma elasticum. ( 27927085 )
2017
34
Early arterial calcification does not correlate with bone loss in pseudoxanthoma elasticum. ( 28658601 )
2017
35
Adaptive Optics Scanning Laser Ophthalmoscopy and Multimodal Imaging of Peau D'Orange in Pseudoxanthoma Elasticum. ( 28499057 )
2017
36
Ultrastructural aspects of pseudoxanthoma elasticum. ( 28954103 )
2017
37
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum. ( 28102862 )
2017
38
Intra-operative radiotherapy management for breast cancer treatment in patients with pseudoxanthoma elasticum: A case report. ( 29105951 )
2017
39
Treatment of Pseudoxanthoma elasticum-like papillary dermal elastolysis with non-ablative fractional resurfacing laser resulting in clinical and histologic improvement in Elastin and Collagen. ( 28759289 )
2017
40
Quantitative Fundus Autofluorescence in Pseudoxanthoma Elasticum. ( 29214314 )
2017
41
A stalactite in the aorta. Abnormal calcification in a patient with pseudoxanthoma elasticum. ( 28597749 )
2017
42
Cutis laxa-like pseudoxanthoma elasticum with osteoma cutis. ( 28540877 )
2017
43
Pseudoxanthoma Elasticum-Like Papular Eruption. ( 28525425 )
2017
44
Familial pseudoxanthoma elasticum associated with multiple comedones. ( 29469717 )
2017
45
Pseudoxanthoma elasticum. ( 29259928 )
2017
46
Anticoagulation in Patients with Pseudoxanthoma Elasticum. ( 28859752 )
2017
47
Tissue-nonspecific alkaline phosphatase: a promising target for pseudoxanthoma elasticum therapy. ( 29299451 )
2017
48
Diagnosis of pseudoxanthoma elasticum in a 4-year-old boy. ( 28328114 )
2017
49
Characterization of dermal myofibroblast differentiation in pseudoxanthoma elasticum. ( 28882457 )
2017
50
Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase. ( 28592560 )
2017

Variations for Pseudoxanthoma Elasticum

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

75 (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 746)
# 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 ABCC6 NM_001171.5(ABCC6): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72653706 GRCh37 Chromosome 16, 16256935: 16256935
4 ABCC6 NM_001171.5(ABCC6): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72653706 GRCh38 Chromosome 16, 16163078: 16163078
5 ABCC6 NM_001171.5(ABCC6): c.2787+1G> T single nucleotide variant Pathogenic rs72664209 GRCh37 Chromosome 16, 16267140: 16267140
6 ABCC6 NM_001171.5(ABCC6): c.2787+1G> T single nucleotide variant Pathogenic rs72664209 GRCh38 Chromosome 16, 16173283: 16173283
7 ABCC6 NM_001171.5(ABCC6): c.3413G> A (p.Arg1138Gln) single nucleotide variant Pathogenic rs60791294 GRCh37 Chromosome 16, 16256943: 16256943
8 ABCC6 NM_001171.5(ABCC6): c.3413G> A (p.Arg1138Gln) single nucleotide variant Pathogenic rs60791294 GRCh38 Chromosome 16, 16163086: 16163086
9 ABCC6 NM_001171.5(ABCC6): c.3341G> C (p.Arg1114Pro) single nucleotide variant Pathogenic rs63750427 GRCh37 Chromosome 16, 16257015: 16257015
10 ABCC6 NM_001171.5(ABCC6): c.3341G> C (p.Arg1114Pro) single nucleotide variant Pathogenic rs63750427 GRCh38 Chromosome 16, 16163158: 16163158
11 ABCC6 NM_001171.5(ABCC6): c.3775delT (p.Trp1259Glyfs) deletion Pathogenic rs72664233 GRCh37 Chromosome 16, 16251627: 16251627
12 ABCC6 NM_001171.5(ABCC6): c.3775delT (p.Trp1259Glyfs) deletion Pathogenic rs72664233 GRCh38 Chromosome 16, 16157770: 16157770
13 ABCC6 NM_001171.5(ABCC6): c.3940C> T (p.Arg1314Trp) single nucleotide variant Pathogenic rs63750759 GRCh37 Chromosome 16, 16248831: 16248831
14 ABCC6 NM_001171.5(ABCC6): c.3940C> T (p.Arg1314Trp) single nucleotide variant Pathogenic rs63750759 GRCh38 Chromosome 16, 16154974: 16154974
15 ABCC6 NM_001171.5(ABCC6): c.4243_4244insAGAA (p.Ala1415Glufs) insertion Pathogenic rs387906352 GRCh37 Chromosome 16, 16244594: 16244595
16 ABCC6 NM_001171.5(ABCC6): c.4243_4244insAGAA (p.Ala1415Glufs) insertion Pathogenic rs387906352 GRCh38 Chromosome 16, 16150737: 16150738
17 ABCC6 ABCC6, 22-BP DEL deletion Pathogenic
18 ABCC6 NC_000016.10: g.(?_15703134)_(16223472_?)del deletion Pathogenic GRCh37 Chromosome 16, 15796991: 16317329
19 ABCC6 NC_000016.10: g.(?_15703134)_(16223472_?)del deletion Pathogenic GRCh38 Chromosome 16, 15703134: 16223472
20 ABCC6 NM_001171.5(ABCC6): c.3389C> T (p.Thr1130Met) single nucleotide variant Pathogenic/Likely pathogenic rs63750459 GRCh37 Chromosome 16, 16256967: 16256967
21 ABCC6 NM_001171.5(ABCC6): c.3389C> T (p.Thr1130Met) single nucleotide variant Pathogenic/Likely pathogenic rs63750459 GRCh38 Chromosome 16, 16163110: 16163110
22 ABCC6 NM_001171.5(ABCC6): c.3803G> A (p.Arg1268Gln) single nucleotide variant Pathogenic rs2238472 GRCh37 Chromosome 16, 16251599: 16251599
23 ABCC6 NM_001171.5(ABCC6): c.3803G> A (p.Arg1268Gln) single nucleotide variant Pathogenic rs2238472 GRCh38 Chromosome 16, 16157742: 16157742
24 ABCC6 NM_001171.5(ABCC6): c.3412C> T (p.Arg1138Trp) single nucleotide variant Pathogenic rs28939701 GRCh37 Chromosome 16, 16256944: 16256944
25 ABCC6 NM_001171.5(ABCC6): c.3412C> T (p.Arg1138Trp) single nucleotide variant Pathogenic rs28939701 GRCh38 Chromosome 16, 16163087: 16163087
26 ABCC6 NM_001171.5(ABCC6): c.3490C> T (p.Arg1164Ter) single nucleotide variant Pathogenic rs72653744 GRCh37 Chromosome 16, 16256866: 16256866
27 ABCC6 NM_001171.5(ABCC6): c.3490C> T (p.Arg1164Ter) single nucleotide variant Pathogenic rs72653744 GRCh38 Chromosome 16, 16163009: 16163009
28 ABCC6 NG_007558.2: g.(60799_60814)_(77206_77221)del deletion Pathogenic GRCh38 Chromosome 16, 16151251: 16167673
29 ABCC6 NG_007558.2: g.(60799_60814)_(77206_77221)del deletion Pathogenic GRCh37 Chromosome 16, 16245108: 16261530
30 ABCC6 NM_001171.5(ABCC6): c.3736-1G> A single nucleotide variant Pathogenic rs63750273 GRCh37 Chromosome 16, 16251667: 16251667
31 ABCC6 NM_001171.5(ABCC6): c.3736-1G> A single nucleotide variant Pathogenic rs63750273 GRCh38 Chromosome 16, 16157810: 16157810
32 ABCC6 NM_001171.5(ABCC6): c.4015C> T (p.Arg1339Cys) single nucleotide variant Pathogenic rs28939702 GRCh37 Chromosome 16, 16248756: 16248756
33 ABCC6 NM_001171.5(ABCC6): c.4015C> T (p.Arg1339Cys) single nucleotide variant Pathogenic rs28939702 GRCh38 Chromosome 16, 16154899: 16154899
34 ABCC6 NM_001171.5(ABCC6): c.3892G> T (p.Val1298Phe) single nucleotide variant Pathogenic rs63751325 GRCh37 Chromosome 16, 16248879: 16248879
35 ABCC6 NM_001171.5(ABCC6): c.3892G> T (p.Val1298Phe) single nucleotide variant Pathogenic rs63751325 GRCh38 Chromosome 16, 16155022: 16155022
36 ABCC6 NM_001171.5(ABCC6): c.3904G> A (p.Gly1302Arg) single nucleotide variant Pathogenic rs63749856 GRCh37 Chromosome 16, 16248867: 16248867
37 ABCC6 NM_001171.5(ABCC6): c.3904G> A (p.Gly1302Arg) single nucleotide variant Pathogenic rs63749856 GRCh38 Chromosome 16, 16155010: 16155010
38 ABCC6 NM_001171.5(ABCC6): c.3961G> A (p.Gly1321Ser) single nucleotide variant Pathogenic rs63749823 GRCh37 Chromosome 16, 16248810: 16248810
39 ABCC6 NM_001171.5(ABCC6): c.3961G> A (p.Gly1321Ser) single nucleotide variant Pathogenic rs63749823 GRCh38 Chromosome 16, 16154953: 16154953
40 ABCC6 NM_001171.5(ABCC6): c.3712G> C (p.Asp1238His) single nucleotide variant Pathogenic rs63749796 GRCh37 Chromosome 16, 16253362: 16253362
41 ABCC6 NM_001171.5(ABCC6): c.3712G> C (p.Asp1238His) single nucleotide variant Pathogenic rs63749796 GRCh38 Chromosome 16, 16159505: 16159505
42 ABCC6 NM_001171.5(ABCC6): c.2294G> A (p.Arg765Gln) single nucleotide variant Pathogenic rs67561842 GRCh37 Chromosome 16, 16272776: 16272776
43 ABCC6 NM_001171.5(ABCC6): c.2294G> A (p.Arg765Gln) single nucleotide variant Pathogenic rs67561842 GRCh38 Chromosome 16, 16178919: 16178919
44 ABCC6 NM_001171.5(ABCC6): c.4216C> A (p.Gln1406Lys) single nucleotide variant Pathogenic rs387906859 GRCh37 Chromosome 16, 16244622: 16244622
45 ABCC6 NM_001171.5(ABCC6): c.4216C> A (p.Gln1406Lys) single nucleotide variant Pathogenic rs387906859 GRCh38 Chromosome 16, 16150765: 16150765
46 ABCC6 NM_001171.5(ABCC6): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs72650700 GRCh37 Chromosome 16, 16284104: 16284104
47 ABCC6 NM_001171.5(ABCC6): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs72650700 GRCh38 Chromosome 16, 16190247: 16190247
48 ABCC6 NM_001171.5(ABCC6): c.3306+1delG deletion Pathogenic rs797045078 GRCh37 Chromosome 16, 16259479: 16259479
49 ABCC6 NM_001171.5(ABCC6): c.3306+1delG deletion Pathogenic rs797045078 GRCh38 Chromosome 16, 16165622: 16165622
50 ABCC6 NM_001171.5(ABCC6): c.4016G> A (p.Arg1339His) single nucleotide variant Pathogenic/Likely pathogenic rs63750622 GRCh37 Chromosome 16, 16248755: 16248755

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:

37
# 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 extracellular region GO:0005576 9.91 ALPL ELN ENPP1 FBN1 IBSP MGP
2 endoplasmic reticulum GO:0005783 9.87 ABCC6 CFTR NOMO2 VKORC1 VTN XYLT1
3 extracellular matrix GO:0031012 9.35 ELN FBN1 IBSP MGP VTN
4 endoplasmic reticulum membrane GO:0005789 9.28 ABCC6 CFTR GGCX NOMO1 NOMO2 NOMO3
5 membrane GO:0016020 10.24 ABCC1 ABCC2 ABCC6 ALPL ANKH CFTR
6 integral component of membrane GO:0016021 10 ABCC1 ABCC2 ABCC6 ALPL ANKH CFTR

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.89 ABCC1 ABCC2 ABCC6 ANKH CFTR
2 osteoblast differentiation GO:0001649 9.63 ALPL IBSP SPP1
3 extracellular matrix organization GO:0030198 9.55 ELN FBN1 IBSP SPP1 VTN
4 drug transmembrane transport GO:0006855 9.54 ABCC1 ABCC2
5 extracellular matrix disassembly GO:0022617 9.54 ELN FBN1 SPP1
6 chondroitin sulfate biosynthetic process GO:0030206 9.52 XYLT1 XYLT2
7 response to vitamin D GO:0033280 9.51 ALPL SPP1
8 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.48 XYLT1 XYLT2
9 cell adhesion mediated by integrin GO:0033627 9.43 FBN1 VTN
10 regulation of bone mineralization GO:0030500 9.43 ANKH ENPP1 MGP
11 peptidyl-glutamic acid carboxylation GO:0017187 9.4 GGCX VKORC1
12 inorganic diphosphate transport GO:0030505 9.32 ANKH ENPP1
13 biomineral tissue development GO:0031214 9.26 ALPL ENPP1 IBSP SPP1
14 ATP hydrolysis coupled anion transmembrane transport GO:0099133 8.92 ABCC1 ABCC2 ABCC6 CFTR

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

# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.67 ABCC1 ABCC2 ABCC6 CFTR
2 integrin binding GO:0005178 9.61 FBN1 IBSP VTN
3 extracellular matrix structural constituent GO:0005201 9.5 ELN FBN1 MGP
4 polysaccharide binding GO:0030247 9.4 ENPP1 VTN
5 extracellular matrix binding GO:0050840 9.33 ELN SPP1 VTN
6 protein xylosyltransferase activity GO:0030158 9.26 XYLT1 XYLT2
7 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.26 ABCC1 ABCC2 ABCC6 CFTR
8 ATPase-coupled anion transmembrane transporter activity GO:0043225 8.92 ABCC1 ABCC2 ABCC6 CFTR

Sources for Pseudoxanthoma Elasticum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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