Pseudoxanthoma elasticum

General Information (adopted from Orphanet):

Synonyms, Signs: PXE
Gronblad-Strandberg-Touraine syndrome
Number of Symptoms 53
OrphanetNr: 758
OMIM Id: 177850
264800
ICD-10: Q82.8
UMLs: C0033847
MeSH: D011561
MedDRA: 10037150
Snomed: 252246005

Prevalence, inheritance and age of onset:

Prevalence: 2 of 100 000 - PMID: 21671388 [IBIS]
Inheritance: Autosomal recessive
- PMID: 26930168 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Connective tissue disease with eye involvement
 -Rare eye disease
 -Rare genetic disease
Familial restrictive cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Genetic dermis elastic tissue disorder
 -Rare genetic disease
 -Rare skin disease
Genetic hypertension
 -Rare circulatory system disease
 -Rare genetic disease
 -Rare renal disease
Malformation syndrome with connective tissue involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Malformation syndrome with skin/mucosae involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Comment:

Most of the vascular complications in PXE occur later during the life (>40 years) than the skin and eyes lesions, with an unexplained female preponderance (PMID:23408347). The serum fetuin-A levels are reduced by about 20-30% from the normal, and less of the activated (γ-glutamylcarboxylated form) form of MGP (matrix Gla-protein ) is found in association with the mineral deposits (PMID:21671388). An increase and fragmentation of elastin, in combination with the typical clumping and calcification, on light microscopy is characteristic for PXE, but their absence does not exclude PXE (PMID:20358627).

Symptom Information: Sort by abundance 

1
 (HPO:0010766) Ectopic calcification 21671388 IBIS 5 / 7739
2
 (HPO:0012457) Medial calcification of medium-sized arteries 23408347 IBIS 1 / 7739
3
 (HPO:0012458) Medial calcification of small arteries 23408347 IBIS 1 / 7739
4
 (HPO:0004966) Medial calcification of large arteries 23408347 IBIS 1 / 7739
5
 (HPO:0003549) Abnormality of connective tissue 21671388 IBIS 22 / 7739
6
 (MedDRA:10071003) Serum fetuin-A decreased 21671388 IBIS 1 / 7739
7
 (HPO:0000951) Abnormality of the skin Very frequent [Orphanet] Very frequent [IBIS] 20358627 IBIS 147 / 7739
8
 (HPO:0100679) Lack of skin elasticity Very frequent [Orphanet] Very frequent [IBIS] 21671388 IBIS 29 / 7739
9
 (HPO:0011355) Localized skin lesion Very frequent [IBIS] 90% (n=42) 18157818 IBIS 3 / 7739
10
 (HPO:0000988) Skin rash Very frequent [Orphanet] 20358627 IBIS 98 / 7739
11
 (HPO:0045059) Hyperkeratotic papule 20358627 IBIS 4 / 7739
12
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 20358627 IBIS 123 / 7739
13
 (HPO:0001582) Redundant skin Occasional [IBIS] 9% (n=42) 18157818 IBIS 51 / 7739
14
 (HPO:0000973) Cutis laxa Occasional [IBIS] 9% (n=42) 18157818 IBIS 43 / 7739
15
 (HPO:0005989) Redundant neck skin Very frequent [Orphanet] Very frequent [IBIS] 20358627 IBIS 40 / 7739
16
 (HPO:0001061) Acne Occasional [Orphanet] 9649690 IBIS 33 / 7739
17
 (HPO:0000479) Abnormality of the retina Very frequent [Orphanet] Very frequent [IBIS] 20358627 IBIS 74 / 7739
18
 (HPO:0000488) Retinopathy Very frequent [Orphanet] 20358627 IBIS 75 / 7739
19
 (OMIM) Peau d'orange retinal changes Frequent [IBIS] 64% (n=42) 18157818 IBIS 3 / 7739
20
 (HPO:0000573) Retinal hemorrhage Occasional [IBIS] 12% (n=42) 18157818 IBIS 13 / 7739
21
 (HPO:0001102) Angioid streaks of the retina Frequent [IBIS] 20358627 IBIS 11 / 7739
22
 (HPO:0007950) Peripapillary chorioretinal atrophy 20358627 IBIS 3 / 7739
23
 (HPO:0000572) Visual loss Occasional [Orphanet] 20358627 IBIS 272 / 7739
24
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 20358627 IBIS 297 / 7739
25
 (HPO:0000608) Macular degeneration Occasional [Orphanet] 26% (n=42) 18157818 IBIS 36 / 7739
26
 (HPO:0007663) Reduced visual acuity 20358627 IBIS 100 / 7739
27
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 8252829 IBIS 141 / 7739
28
 (HPO:0000592) Blue sclerae Occasional [Orphanet] 6075793 IBIS 85 / 7739
29
 (HPO:0000545) Myopia Frequent [Orphanet] 23510649 IBIS 286 / 7739
30
 (HPO:0002621) Atherosclerosis Occasional [Orphanet] 20358627 IBIS 33 / 7739
31
 (HPO:0001677) Coronary artery disease Occasional [Orphanet] 23408347 IBIS 58 / 7739
32
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 20358627 IBIS 192 / 7739
33
 (HPO:0004306) Abnormality of the endocardium Occasional [Orphanet] 20358627 IBIS 24 / 7739
34
 (HPO:0001681) Angina pectoris Occasional [IBIS] 12% (n=42) 18157818 IBIS 22 / 7739
35
 (HPO:0001658) Myocardial infarction Rare [IBIS] 5% (n=42) 18157818 IBIS 30 / 7739
36
 (HPO:0004950) Peripheral arterial disease Frequent [IBIS] 53% (n=42) 18157818 IBIS 3 / 7739
37
 (HPO:0002140) Ischemic stroke Occasional [IBIS] 15% (n=42) 18157818 IBIS 70 / 7739
38
 (HPO:0004417) Intermittent claudication Occasional [IBIS] 22% (n=42) 18157818 IBIS 10 / 7739
39
 (HPO:0000822) Hypertension Frequent [IBIS] 41% (n=42) 18157818 IBIS 224 / 7739
40
 (HPO:0100659) Abnormality of the cerebral vasculature Very frequent [Orphanet] 15825558 IBIS 25 / 7739
41
 (HPO:0006705) Abnormality of the atrioventricular valves 20358627 IBIS 2 / 7739
42
 (HPO:0001633) Abnormality of the mitral valve Occasional [Orphanet] 20358627 IBIS 69 / 7739
43
 (HPO:0001634) Mitral valve prolapse Rare [IBIS] 2.5% (n=42) 18157818 IBIS 69 / 7739
44
 (HPO:0001653) Mitral regurgitation 18157818 IBIS 64 / 7739
45
 (HPO:0005180) Tricuspid regurgitation Frequent [IBIS] 38% (n=42) 18157818 IBIS 20 / 7739
46
 (HPO:0010444) Pulmonary insufficiency Occasional [IBIS] 12% (n=42) 18157818 IBIS 11 / 7739
47
 (HPO:0002239) Gastrointestinal hemorrhage Occasional [Orphanet] Occasional [IBIS] 20358627 IBIS 97 / 7739
48
 (HPO:0002617) Aneurysm Occasional [Orphanet] 23408347 IBIS 34 / 7739
49
 (HPO:0002170) Intracranial hemorrhage Occasional [Orphanet] 26564082 IBIS 40 / 7739
50
 (HPO:0005297) Premature occlusive vascular disease 23408347 IBIS 2 / 7739
51
 (HPO:0100545) Arterial stenosis Very frequent [Orphanet] 23408347 IBIS 22 / 7739
52
 (HPO:0001872) Abnormality of thrombocytes Occasional [Orphanet] 26930168 IBIS 20 / 7739
53
 (HPO:0000121) Nephrocalcinosis Occasional [Orphanet] 27181788 IBIS 57 / 7739

Associated genes:

ABCC6;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
ABCC6 rs2238472 pathogenic RCV000006948.3
ABCC6 rs28939701 pathogenic RCV000006949.4
ABCC6 rs28939702 pathogenic RCV000006954.3
ABCC6 rs387906352 pathogenic RCV000006944.2
ABCC6 rs387906353 pathogenic RCV000006960.4
ABCC6 rs387906859 pathogenic RCV000023277.3
ABCC6 rs60791294 pathogenic RCV000006939.3
ABCC6 rs63749796 pathogenic RCV000006959.3
ABCC6 rs63749823 pathogenic RCV000006958.3
ABCC6 rs63749856 pathogenic RCV000006957.3
ABCC6 rs63750273 pathogenic RCV000006952.4
ABCC6 rs63750427 pathogenic RCV000006940.3
ABCC6 rs63750459 pathogenic RCV000006947.4
ABCC6 rs63750759 pathogenic RCV000006942.4
ABCC6 rs63751325 pathogenic RCV000006956.3
ABCC6 rs67561842 pathogenic RCV000023275.3
ABCC6 rs72547524 pathogenic RCV000006955.2
ABCC6 rs72650700 pathogenic RCV000023280.3
ABCC6 rs72653706 pathogenic RCV000006937.3
ABCC6 rs72653744 pathogenic RCV000006950.4
ABCC6 rs72664209 pathogenic RCV000006938.4
ABCC6 rs72664233 pathogenic RCV000006941.3
ABCC6 rs797045078 pathogenic RCV000190562.1

Additional Information: