ORPHA:758
Pseudoxanthoma elasticum
Synonyms: Gronblad-Strandberg-Touraine syndrome · PXE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare, genetic, metabolic disease with connective tissue and eye involvement, characterized by progressive ectopic mineralization and fragmented elastic fibers in the skin, retina and vascular walls.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudoxanthoma elasticum | Gronblad-Strandberg-Touraine syndrome · PXE |
| fr | Pseudoxanthome élastique | PXE · Syndrome de Gronblad-Strandberg-Touraine |
| de | Pseudoxanthoma elasticum | |
| es | Pseudoxantoma elástico | |
| it | Pseudoxantoma elastico | |
| nl | Pseudoxanthoma elasticum | PXE · Syndroom van Gronblad-Strandberg-Touraine |
| pt | Pseudoxantoma elástico | |
| pl | Kępki żółte rzekome | PXE · Zespół Gronblada, Strandberga i Touraine'a |
| cs | Pseudoxanthoma elasticum | PXE · Gronbladův-Strandbergův-Touraineův syndrom · Gronblad-Strandberg-Touraineův syndrom |
| uk | Псевдоксантома еластична | Синдром Гронблада-Страндберга-Турена · PXE |
| zh | 弹性假黄色瘤 | Gronblad-Strandberg-Touraine综合症 |
| tr | Psödoksantoma elastikum | PXE · Gronblad-Strandberg-Touraine sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 177850 | BTNT | validated | |
| OMIM | 264800 | E | validated | |
| ICD-10 | Q82.8 | NTBT | index | validated |
| ICD-11 | EC40 | E | specific | validated |
| MONDO | 0009925 | E | validated | |
| MONDO | 9925 | E | validated | |
| MeSH | D011561 | E | validated | |
| UMLS | C0033847 | E | validated | |
| GARD | 9643 | E | validated | |
| MedDRA | 10037150 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (9):
- ORPHA:217635Familial restrictive cardiomyopathy
rare cardiac diseases; rare genetic diseases - ORPHA:183503Genetic central nervous system and retinal vascular disease
rare genetic diseases - ORPHA:228215Genetic dermis elastic tissue disorder
rare genetic diseases; rare skin diseases - ORPHA:71281Rare central nervous system and retinal vascular disease
rare neurological diseases - ORPHA:139030Rare developmental defect with connective tissue involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:716427Rare disorder with progressive predominantly macular disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:156629Rare genetic cause of hypertension
rare genetic diseases; rare renal diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCC6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:57 | ENSG00000091262 | 603234 | 16p13.11 | ATP binding cassette subfamily C member 6 | 20032990[PMID]_20301292[PMID] |
| ENPP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3356 | ENSG00000197594 | 173335 | 6q23.2 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | 25615550[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.5 / 100 000 | Europe | Value and class | Validated | 22209248[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
41 annotations · validated 2024-07-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0100659 | Abnormality of the cerebral vasculature | |
| HP:0000951 | Abnormality of the skin | |
| HP:0001102 | Angioid streaks of the fundus | |
| HP:0100545 | Arterial stenosis | |
| HP:0007392 | Excessive wrinkled skin | |
| HP:0100679 | Lack of skin elasticity | |
| HP:0000573 | Retinal hemorrhage | |
| HP:0000488 | Retinopathy | |
| HP:0000474 | Thickened nuchal skin fold | |
| Frequent (79-30%) | ||
| HP:0000978 | Bruising susceptibility | |
| HP:0025473 | Hyperpigmented papule | |
| HP:0004417 | Intermittent claudication | |
| HP:0001582 | Redundant skin | |
| HP:0033027 | Retinal peau d'orange | |
| HP:0001065 | Striae distensae | |
| Occasional (29-5%) | ||
| HP:0000765 | Abnormal thorax morphology | |
| HP:0004306 | Abnormality of the endocardium | |
| HP:0001872 | Abnormality of thrombocytes | |
| HP:0001681 | Angina pectoris | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0000592 | Blue sclerae | |
| HP:0002514 | Cerebral calcification | |
| HP:0011506 | Choroidal neovascularization | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0000974 | Hyperextensible skin | |
| HP:0000822 | Hypertension | |
| HP:0001382 | Joint hypermobility | |
| HP:0012508 | Metamorphopsia | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0001012 | Multiple lipomas | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0002172 | Postural instability | |
| HP:0100817 | Renovascular hypertension | |
| HP:0001723 | Restrictive cardiomyopathy | |
| HP:0001297 | Stroke | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0001645 | Sudden cardiac death | |
| HP:0100585 | Telangiectasia of the skin | |
| HP:0002326 | Transient ischemic attack | |
| HP:0000505 | Visual impairment | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 20301292[PMID]_28486967[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/758
- This record as JSON: /data/d/758.json