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 53 12 72 72 23 49 24 55 71 36 28 13 51 41 14 69
Gronblad-Strandberg Syndrome 53 12 23 24 71 69
Pxe 53 23 49 24 55 71
Gronblad-Strandberg-Touraine Syndrome 55 71
Pseudoxanthoma Elasticum, Modifier of Severity of 53
Groenblad-Strandberg Syndrome 24
Gronblad Strandberg Syndrome 49
Nevus Elasticus 69

Characteristics:

Orphanet epidemiological data:

55
pseudoxanthoma elasticum
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

53
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:



Summaries for Pseudoxanthoma Elasticum

OMIM : 53 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 pruritus, angina pectoris and metamorphopsia. 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 homeostasis/metabolism and cardiovascular system

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.

Genetics Home Reference : 24 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 : 49 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. Last updated: 8/16/2011

UniProtKB/Swiss-Prot : 71 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.

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 123)
# Related Disease Score Top Affiliating Genes
1 pseudoxanthoma elasticum-like papillary dermal elastolysis 34.1 ELN FBN1
2 angioid streaks 31.6 ABCC6 XYLT1 XYLT2
3 elastosis perforans serpiginosa 31.3 ABCC6 ELN
4 late-onset focal dermal elastosis 30.5 ELN FBN1
5 mid-dermal elastolysis 30.4 ELN FBN1
6 connective tissue disease 29.7 ABCC6 ELN FBN1 IBSP SPP1
7 calcinosis 29.4 ANKH ENPP1 MGP SPP1
8 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency 12.6
9 acquired pseudoxanthoma elasticum 12.3
10 pseudoxanthoma elasticum, forme fruste 12.3
11 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa 12.2
12 arterial calcification, generalized, of infancy, 2 11.3
13 choroiditis 10.5
14 eastern equine encephalitis 10.4 XYLT1 XYLT2
15 familial abdominal aortic aneurysm 10.4 ELN FBN1
16 hereditary combined deficiency of vitamin k-dependent clotting factors 10.4 GGCX VKORC1
17 chronic actinic dermatitis 10.4 ELN FBN1
18 cutis laxa 10.4
19 superficial urinary bladder cancer 10.3 NOMO1 NOMO2 NOMO3
20 arterial calcification of infancy 10.3
21 retinitis 10.3
22 phacogenic glaucoma 10.3 ELN FBN1
23 macular degeneration, age-related, 1 10.3
24 dentin dysplasia, type ii 10.3 IBSP SPP1
25 optic disk drusen 10.2 ABCC6 ELN
26 thalassemia 10.2
27 calciphylaxis 10.2
28 dental pulp calcification 10.2 FBN1 SPP1
29 vitamin k deficiency hemorrhagic disease 10.2 GGCX MGP VKORC1
30 autosomal recessive hypophosphatemic rickets 10.2 ENPP1 IBSP
31 beta-thalassemia 10.1
32 vascular disease 10.1
33 restrictive cardiomyopathy 10.1
34 aneurysm 10.1
35 white fibrous papulosis of the neck 10.1
36 hypercementosis 10.1 ENPP1 SPP1
37 aortic valve disease 1 10.1 ELN FBN1 SPP1
38 nephrolithiasis, calcium oxalate 10.1 IBSP MGP SPP1
39 arteries, anomalies of 10.0
40 marfan syndrome 10.0
41 retinitis pigmentosa 10.0
42 aging 10.0
43 leber congenital amaurosis 4 10.0
44 nephrolithiasis 10.0
45 skin disease 10.0
46 nephrocalcinosis 10.0
47 lung disease 10.0
48 chorioretinitis 10.0
49 amyloidosis 10.0
50 eosinophilia-myalgia syndrome 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:

53
Cardiovascular Vascular:
angina pectoris
coronary artery disease
accelerated atherosclerosis
intermittent claudication (30%)
renovascular hypertension (rare)
more
Abdomen Gastroin testinal:
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:

55 31 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000989
2 angina pectoris 55 31 occasional (7.5%) Occasional (29-5%) HP:0001681
3 metamorphopsia 55 31 occasional (7.5%) Occasional (29-5%) HP:0012508
4 high palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000218
5 hypothyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000821
6 hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0000822
7 sudden cardiac death 55 31 occasional (7.5%) Occasional (29-5%) HP:0001645
8 cerebral calcification 55 31 occasional (7.5%) Occasional (29-5%) HP:0002514
9 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
10 visual impairment 55 31 frequent (33%) Occasional (29-5%) HP:0000505
11 retinopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000488
12 subcutaneous nodule 55 31 occasional (7.5%) Occasional (29-5%) HP:0001482
13 hemiplegia/hemiparesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0004374
14 joint hyperflexibility 55 31 occasional (7.5%) Occasional (29-5%) HP:0005692
15 abnormality of the thorax 55 31 occasional (7.5%) Occasional (29-5%) HP:0000765
16 acne 55 31 occasional (7.5%) Occasional (29-5%) HP:0001061
17 thickened nuchal skin fold 55 31 hallmark (90%) Very frequent (99-80%) HP:0000474
18 myopia 55 31 frequent (33%) Frequent (79-30%) HP:0000545
19 multiple lipomas 55 31 occasional (7.5%) Occasional (29-5%) HP:0001012
20 telangiectasia of the skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0100585
21 abnormality of the cerebral vasculature 55 31 hallmark (90%) Very frequent (99-80%) HP:0100659
22 striae distensae 55 31 frequent (33%) Frequent (79-30%) HP:0001065
23 mitral valve prolapse 55 31 occasional (7.5%) Occasional (29-5%) HP:0001634
24 gastrointestinal hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0002239
25 nephrocalcinosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000121
26 skin rash 55 31 hallmark (90%) Very frequent (99-80%) HP:0000988
27 bruising susceptibility 55 31 frequent (33%) Frequent (79-30%) HP:0000978
28 arterial stenosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100545
29 blue sclerae 55 31 occasional (7.5%) Occasional (29-5%) HP:0000592
30 hyperextensible skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0000974
31 retinal hemorrhage 55 31 hallmark (90%) Very frequent (99-80%) HP:0000573
32 atherosclerosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002621
33 postural instability 55 31 occasional (7.5%) Occasional (29-5%) HP:0002172
34 excessive wrinkled skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0007392
35 restrictive cardiomyopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001723
36 renal insufficiency 31 HP:0000083
37 malformation of the heart and great vessels 55 Very frequent (99-80%)
38 congestive heart failure 31 HP:0001635
39 lack of skin elasticity 55 Very frequent (99-80%)
40 reduced visual acuity 31 HP:0007663
41 abnormality of the endocardium 55 Occasional (29-5%)
42 abnormality of the mouth 31 HP:0000153
43 abnormality of thrombocytes 55 Occasional (29-5%)
44 macular degeneration 31 HP:0000608
45 stroke 31 HP:0001297
46 renovascular hypertension 31 occasional (7.5%) HP:0100817
47 hypermelanotic macule 31 HP:0001034
48 aneurysm 55 Occasional (29-5%)
49 abnormality of the skin 55 Very frequent (99-80%)
50 mitral stenosis 31 HP:0001718

UMLS symptoms related to Pseudoxanthoma Elasticum:


angina pectoris

MGI Mouse Phenotypes related to Pseudoxanthoma Elasticum:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.1 ANKH CFTR ENPP1 FBN1 GGCX MGP
2 cardiovascular system MP:0005385 10.06 SPP1 VKORC1 ABCC6 ALPL ANKH ENPP1
3 hematopoietic system MP:0005397 10.06 SPP1 VTN XYLT1 ABCC1 ABCC2 ALPL
4 craniofacial MP:0005382 9.91 ALPL ANKH CFTR FBN1 IBSP SPP1
5 limbs/digits/tail MP:0005371 9.63 FBN1 IBSP VKORC1 XYLT1 ALPL ANKH
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
12 Fluorodeoxyglucose F18

Interventional clinical trials:

(show all 13)

# 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) 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 Genetic Analysis of Patients With Pseudoxanthoma Elasticum Completed NCT00341419
10 Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort Recruiting NCT01446380
11 Characterization of Pseudoxanthoma Elasticum Recruiting NCT02108392
12 What's Happen Under the Calcification Process in Pseudoxanthoma Elasticum Recruiting NCT03070860
13 Biological Collection of Kidney Cells Not yet recruiting NCT03364504

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 28 ABCC6 XYLT1 XYLT2

Anatomical Context for Pseudoxanthoma Elasticum

MalaCards organs/tissues related to Pseudoxanthoma Elasticum:

38
Skin, Eye, Retina, Heart, Endothelial, Kidney, Liver

Publications for Pseudoxanthoma Elasticum

Articles related to Pseudoxanthoma Elasticum:

(show top 50) (show all 335)
# Title Authors Year
1
Dermoscopic features of pseudoxanthoma elasticum. ( 29271496 )
2018
2
Chorioretinal Punched-Out Lesions in Pseudoxanthoma Elasticum. ( 29370032 )
2018
3
"Comet-tail" lesions of pseudoxanthoma elasticum. ( 29380784 )
2018
4
18F-Flurodeoxyglucose and 18F-Sodium Fluoride Positron Emission Tomography/Computed Tomography Imaging of Arterial and Cutaneous Alterations in Pseudoxanthoma Elasticum. ( 29321214 )
2018
5
Calciphylaxis with pseudoxanthoma elasticum-like changes: A case series. ( 29086985 )
2018
6
Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity. ( 29175035 )
2018
7
Arterial stiffening and thickening in patients with pseudoxanthoma elasticum. ( 29432933 )
2018
8
Adaptive Optics Scanning Laser Ophthalmoscopy and Multimodal Imaging of Peau D'Orange in Pseudoxanthoma Elasticum. ( 28499057 )
2017
9
Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase. ( 28592560 )
2017
10
Dermoscopy of pseudoxanthoma elasticum. ( 29127123 )
2017
11
ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy. ( 28696355 )
2017
12
Ultrastructural aspects of pseudoxanthoma elasticum. ( 28954103 )
2017
13
Quantitative Fundus Autofluorescence in Pseudoxanthoma Elasticum. ( 29214314 )
2017
14
Abcc6 Knockout Rat Model Highlights theA Role of Liver in PPi Homeostasis inA Pseudoxanthoma Elasticum. ( 28111129 )
2017
15
Intra-operative radiotherapy management for breast cancer treatment in patients with pseudoxanthoma elasticum: A case report. ( 29105951 )
2017
16
Pseudoxanthoma Elasticum-Like in I^-Thalassemia Major, a matter of I+-Klotho and Parathyroid Hormone? ( 29226737 )
2017
17
Pseudoxanthoma elasticum-like papillary dermal elastolysis. ( 29364463 )
2017
18
First-genetic analysis of atypical phenotype of pseudoxanthoma elasticum with ocular manifestations in the absence of characteristic skin lesions. ( 29024031 )
2017
19
Acute Angle Closure Glaucoma in a Patient with Pseudoxanthoma Elasticum. ( 28914006 )
2017
20
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
21
Pseudoxanthoma elasticum-like changes in nonuremic calciphylaxis: Case series and brief review of a helpful diagnostic clue. ( 28869660 )
2017
22
Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis. ( 28282240 )
2017
23
Early arterial calcification does not correlate with bone loss in pseudoxanthoma elasticum. ( 28658601 )
2017
24
Tissue-nonspecific alkaline phosphatase: a promising target for pseudoxanthoma elasticum therapy. ( 29299451 )
2017
25
A stalactite in the aorta. Abnormal calcification in a patient with pseudoxanthoma elasticum. ( 28597749 )
2017
26
Ranibizumab for choroidal neovascularization secondary to pseudoxanthoma elasticum: 4-year results from the PIXEL study in France. ( 28493086 )
2017
27
Diagnosis of pseudoxanthoma elasticum in a 4-year-old boy. ( 28328114 )
2017
28
Anticoagulation in Patients with Pseudoxanthoma Elasticum. ( 28859752 )
2017
29
Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum. ( 28186352 )
2017
30
Dermoscopic findings of pseudoxanthoma elasticum-like papillary dermal elastolysis. ( 28218066 )
2017
31
Bidimensional unconstrained optimization approach to EMD: An algorithm revealing skin perfusion alterations in pseudoxanthoma elasticum patients. ( 28254079 )
2017
32
Characterization of dermal myofibroblast differentiation in pseudoxanthoma elasticum. ( 28882457 )
2017
33
Cutis laxa-like pseudoxanthoma elasticum with osteoma cutis. ( 28540877 )
2017
34
Pseudoxanthoma elasticum. ( 29259928 )
2017
35
Pseudoxanthoma elasticum. ( 28486967 )
2017
36
A case of pseudoxanthoma elasticum with proliferative diabetic retinopathy. ( 28978321 )
2017
37
Pseudoxanthoma Elasticum-Like Papular Eruption. ( 28525425 )
2017
38
Increased vascular occlusion in patients with pseudoxanthoma elasticum. ( 27927085 )
2017
39
Cerebral disease in a nationwide Dutch pseudoxanthoma elasticum cohort with a systematic review of the literature. ( 28131180 )
2017
40
Dermoscopy of pseudoxanthoma elasticum. ( 28087037 )
2017
41
A Pseudoxanthoma Elasticum-Like Papular Eruption: Challenge. ( 28525421 )
2017
42
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum. ( 28102862 )
2017
43
CHORIOCAPILLARIS SIGNAL VOIDS IN MATERNALLY INHERITED DIABETES AND DEAFNESS AND IN PSEUDOXANTHOMA ELASTICUM. ( 28092344 )
2017
44
Pseudoxanthoma elasticum and nephrocalcinosis. ( 27181788 )
2016
45
Research Progress in Pseudoxanthoma Elasticum andA Related Ectopic Mineralization Disorders. ( 26902123 )
2016
46
Etidronate prevents, but does not reverse, ectopic mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/-). ( 27447569 )
2016
47
Pseudoxanthoma elasticum of the palate: a case report and a brief review of the literature. ( 26679366 )
2016
48
Image Gallery: Dermatologic and retinal manifestations of pseudoxanthoma elasticum. ( 27115594 )
2016
49
A case report of pseudoxanthoma elasticum and systemic lupus erythematosus: An uncommon association? ( 27365276 )
2016
50
Hydrophilic polymer vasculopathy with coinciding pseudoxanthoma elasticum-like changes in an amputated toe. ( 28035696 )
2016

Variations for Pseudoxanthoma Elasticum

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

71 (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 358)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCC6 NM_001171.5(ABCC6): c.2294G> A (p.Arg765Gln) single nucleotide variant Pathogenic rs67561842 GRCh37 Chromosome 16, 16272776: 16272776
2 ABCC6 NM_001171.5(ABCC6): c.4216C> A (p.Gln1406Lys) single nucleotide variant Pathogenic rs387906859 GRCh37 Chromosome 16, 16244622: 16244622
3 ABCC6 NM_001171.5(ABCC6): c.1552C> T (p.Arg518Ter) single nucleotide variant Pathogenic rs72650700 GRCh37 Chromosome 16, 16284104: 16284104
4 ABCC6 NM_001171.5(ABCC6): c.3421C> T (p.Arg1141Ter) single nucleotide variant Pathogenic rs72653706 GRCh37 Chromosome 16, 16256935: 16256935
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.3413G> A (p.Arg1138Gln) single nucleotide variant Pathogenic rs60791294 GRCh37 Chromosome 16, 16256943: 16256943
7 ABCC6 NM_001171.5(ABCC6): c.3341G> C (p.Arg1114Pro) single nucleotide variant Pathogenic rs63750427 GRCh37 Chromosome 16, 16257015: 16257015
8 ABCC6 NM_001171.5(ABCC6): c.3775delT (p.Trp1259Glyfs) deletion Pathogenic rs72664233 GRCh37 Chromosome 16, 16251627: 16251627
9 ABCC6 NM_001171.5(ABCC6): c.3940C> T (p.Arg1314Trp) single nucleotide variant Pathogenic rs63750759 GRCh37 Chromosome 16, 16248831: 16248831
10 ABCC6 NM_001171.5(ABCC6): c.4243_4244insAGAA (p.Ala1415Glufs) insertion Pathogenic rs387906352 GRCh37 Chromosome 16, 16244594: 16244595
11 ABCC6 ABCC6, 22-BP DEL deletion Pathogenic
12 ABCC6 NC_000016.10: g.(?_15703134)_(16223472_?)del deletion Pathogenic GRCh37 Chromosome 16, 15796991: 16317329
13 ABCC6 NM_001171.5(ABCC6): c.3389C> T (p.Thr1130Met) single nucleotide variant Pathogenic/Likely pathogenic rs63750459 GRCh37 Chromosome 16, 16256967: 16256967
14 ABCC6 NM_001171.5(ABCC6): c.3412C> T (p.Arg1138Trp) single nucleotide variant Pathogenic rs28939701 GRCh37 Chromosome 16, 16256944: 16256944
15 ABCC6 NM_001171.5(ABCC6): c.3490C> T (p.Arg1164Ter) single nucleotide variant Pathogenic rs72653744 GRCh37 Chromosome 16, 16256866: 16256866
16 ABCC6 NG_007558.2: g.(60799_60814)_(77206_77221)del deletion Pathogenic GRCh38 Chromosome 16, 16151251: 16167673
17 ABCC6 NM_001171.5(ABCC6): c.3736-1G> A single nucleotide variant Pathogenic rs63750273 GRCh37 Chromosome 16, 16251667: 16251667
18 ABCC6 NM_001171.5(ABCC6): c.4015C> T (p.Arg1339Cys) single nucleotide variant Pathogenic rs28939702 GRCh37 Chromosome 16, 16248756: 16248756
19 ABCC6 NM_001171.5(ABCC6): c.3892G> T (p.Val1298Phe) single nucleotide variant Pathogenic rs63751325 GRCh37 Chromosome 16, 16248879: 16248879
20 ABCC6 NM_001171.5(ABCC6): c.3904G> A (p.Gly1302Arg) single nucleotide variant Pathogenic rs63749856 GRCh37 Chromosome 16, 16248867: 16248867
21 ABCC6 NM_001171.5(ABCC6): c.3961G> A (p.Gly1321Ser) single nucleotide variant Pathogenic rs63749823 GRCh37 Chromosome 16, 16248810: 16248810
22 ABCC6 NM_001171.5(ABCC6): c.3712G> C (p.Asp1238His) single nucleotide variant Pathogenic rs63749796 GRCh37 Chromosome 16, 16253362: 16253362
23 ABCC6 NM_001171.5(ABCC6): c.3306+1delG deletion Pathogenic rs797045078 GRCh38 Chromosome 16, 16165622: 16165622
24 ABCC6 NM_001171.5(ABCC6): c.4016G> A (p.Arg1339His) single nucleotide variant Pathogenic/Likely pathogenic rs63750622 GRCh37 Chromosome 16, 16248755: 16248755
25 ABCC6 NM_001171.5(ABCC6): c.3398G> C (p.Gly1133Ala) single nucleotide variant Pathogenic/Likely pathogenic rs63750473 GRCh37 Chromosome 16, 16256958: 16256958
26 ABCC6 NM_001171.5(ABCC6): c.2861_2866delTCCTCT (p.Phe954_Leu955del) deletion Pathogenic/Likely pathogenic rs767359198 GRCh37 Chromosome 16, 16263632: 16263637
27 ABCC6 NM_001171.5(ABCC6): c.1553G> A (p.Arg518Gln) single nucleotide variant Pathogenic rs72653772 GRCh37 Chromosome 16, 16284103: 16284103
28 ABCC6 NM_001171.5(ABCC6): c.2814C> A (p.Tyr938Ter) single nucleotide variant Pathogenic rs72653704 GRCh37 Chromosome 16, 16263684: 16263684
29 ABCC6 NM_001171.5(ABCC6): c.3491G> A (p.Arg1164Gln) single nucleotide variant Pathogenic/Likely pathogenic rs63750457 GRCh37 Chromosome 16, 16256865: 16256865
30 ABCC6 NM_001171.5(ABCC6): c.496C> T (p.Arg166Cys) single nucleotide variant Pathogenic/Likely pathogenic rs201766106 GRCh37 Chromosome 16, 16308285: 16308285
31 ABCC6 NM_001171.5(ABCC6): c.1132C> T (p.Gln378Ter) single nucleotide variant Pathogenic rs72650699 GRCh37 Chromosome 16, 16295902: 16295902
32 ABCC6 NM_001171.5(ABCC6): c.3415G> A (p.Ala1139Thr) single nucleotide variant Likely pathogenic rs63750146 GRCh37 Chromosome 16, 16256941: 16256941
33 ABCC6 NM_001171.5(ABCC6): c.2420G> A (p.Arg807Gln) single nucleotide variant Pathogenic/Likely pathogenic rs72653794 GRCh37 Chromosome 16, 16271479: 16271479
34 ABCC6 NM_001171.5(ABCC6): c.2018T> C (p.Leu673Pro) single nucleotide variant Pathogenic rs67470842 GRCh37 Chromosome 16, 16276713: 16276713
35 ABCC6 NM_001171.5(ABCC6): c.4081G> A (p.Asp1361Asn) single nucleotide variant Pathogenic rs58695352 GRCh37 Chromosome 16, 16248612: 16248612
36 ABCC6 NM_001171.5(ABCC6): c.3143_3145delTCT (p.Phe1048del) deletion Pathogenic/Likely pathogenic rs769437554 GRCh38 Chromosome 16, 16165784: 16165786
37 ABCC6 NM_001171.5(ABCC6): c.1868-5T> G single nucleotide variant Pathogenic/Likely pathogenic rs72664207 GRCh37 Chromosome 16, 16278896: 16278896
38 ABCC6 NM_001171.5(ABCC6): c.1256G> A (p.Arg419Gln) single nucleotide variant Pathogenic/Likely pathogenic rs772434460 GRCh38 Chromosome 16, 16198103: 16198103
39 ABCC6 NM_001171.5(ABCC6): c.2996-?_4208+?del deletion Pathogenic
40 ABCC6 NM_001171.5(ABCC6): c.3307-?_3882+?del deletion Pathogenic
41 ABCC6 NM_001171.5(ABCC6): c.3307-?_3735+?del deletion Pathogenic
42 ABCC6 NM_001171.5(ABCC6): c.1868-?_1943+?del deletion Pathogenic
43 ABCC6 NM_001171.5(ABCC6): c.*38G> A single nucleotide variant Pathogenic rs59461468 GRCh37 Chromosome 16, 16243952: 16243952
44 ABCC6 NM_001171.5(ABCC6): c.*17G> A single nucleotide variant Pathogenic rs3902401 GRCh38 Chromosome 16, 16150116: 16150116
45 ABCC6 NM_001171.5(ABCC6): c.4501G> A (p.Gly1501Ser) single nucleotide variant Pathogenic rs63750874 GRCh37 Chromosome 16, 16244001: 16244001
46 ABCC6 NM_001171.5(ABCC6): c.4448C> T (p.Pro1483Leu) single nucleotide variant Pathogenic rs63750135 GRCh37 Chromosome 16, 16244054: 16244054
47 ABCC6 NM_001171.5(ABCC6): c.4441G> A (p.Gly1481Ser) single nucleotide variant Pathogenic rs63751279 GRCh37 Chromosome 16, 16244061: 16244061
48 ABCC6 NM_001171.5(ABCC6): c.4434delA (p.Glu1479Argfs) deletion Pathogenic rs72664280 GRCh37 Chromosome 16, 16244068: 16244068
49 ABCC6 NM_001171.5(ABCC6): c.4420A> T (p.Lys1474Ter) single nucleotide variant Pathogenic rs72653751 GRCh37 Chromosome 16, 16244082: 16244082
50 ABCC6 NM_001171.5(ABCC6): c.4403+11C> G single nucleotide variant Pathogenic rs72664215 GRCh37 Chromosome 16, 16244424: 16244424

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:

36
# 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 9.97 ALPL ELN ENPP1 FBN1 IBSP MGP
2 endoplasmic reticulum GO:0005783 9.91 ABCC6 CFTR NOMO2 VKORC1 VTN XYLT1
3 extracellular matrix GO:0031012 9.55 ELN FBN1 IBSP MGP VTN
4 proteinaceous extracellular matrix GO:0005578 9.35 ALPL ELN FBN1 MGP VTN
5 endoplasmic reticulum membrane GO:0005789 9.17 ABCC6 CFTR GGCX NOMO2 VKORC1 XYLT1
6 membrane GO:0016020 10.28 ABCC1 ABCC2 ABCC6 ALPL ANKH CFTR
7 integral component of membrane GO:0016021 10.1 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 9.91 ABCC1 ABCC2 ABCC6 ANKH CFTR
2 osteoblast differentiation GO:0001649 9.61 ALPL IBSP SPP1
3 extracellular matrix organization GO:0030198 9.55 ELN FBN1 IBSP SPP1 VTN
4 chondroitin sulfate biosynthetic process GO:0030206 9.54 XYLT1 XYLT2
5 extracellular matrix disassembly GO:0022617 9.54 ELN FBN1 SPP1
6 drug transmembrane transport GO:0006855 9.52 ABCC1 ABCC2
7 response to vitamin D GO:0033280 9.49 ALPL SPP1
8 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.48 XYLT1 XYLT2
9 cell adhesion mediated by integrin GO:0033627 9.46 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 9.63 FBN1 IBSP VTN
3 transporter activity GO:0005215 9.61 ABCC1 ABCC2 ABCC6
4 extracellular matrix structural constituent GO:0005201 9.5 ELN FBN1 MGP
5 acetylglucosaminyltransferase activity GO:0008375 9.48 XYLT1 XYLT2
6 polysaccharide binding GO:0030247 9.4 ENPP1 VTN
7 extracellular matrix binding GO:0050840 9.33 ELN SPP1 VTN
8 protein xylosyltransferase activity GO:0030158 9.26 XYLT1 XYLT2
9 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.26 ABCC1 ABCC2 ABCC6 CFTR
10 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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