Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
Synonyms: PXE-like syndrome with retinitis pigmentosa
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare, genetic, dermis elastic tissue disorder characterized by yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs, and retinitis pigmentosa, in the absence of clotting abnormalities. Patients present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa | PXE-like syndrome with retinitis pigmentosa |
| fr | Syndrome pseudoxanthome élastique-like avec rétinite pigmentaire | Syndrome PXE-like avec rétinite pigmentaire |
| de | Pseudoxanthoma elasticum-ähnliche Hautmanifestationen mit Retinis pigmentosa | PXE-ähnliches Syndrom mit Retinis pigmentosa |
| es | Manifestaciones cutáneas similares al pseudoxantoma elástico con retinosis pigmentaria | Manifestaciones cutáneas pseudoxantoma elástico-like con retinosis pigmentaria · Síndrome similar a PEX con retinosis pigmentaria |
| it | Segni cutanei simil-pseudoxantoma elastico con retinite pigmentosa | Sindrome PXE-simile con retinite pigmentosa |
| nl | Pseudoxanthoma elasticum-achtige huidmanifestaties met retinitis pigmentosa | PXE-achtig syndroom met retinitis pigmentosa |
| pt | Manifestações cutâneas pseudoxantoma elástico-like com retinite pigmentosa | Retinite pigmentosa com manifestações cutâneas semelhantes a pseudoxantoma elástico |
| pl | Objawy skórne podobne do kępek żółtych rzekomych ze zwyrodnieniem barwnikowym siatkówki | Zespół podobny do PXE ze zwyrodnieniem barwnikowym siatkówki |
| cs | Kožní forma pseudoxanthoma elasticum like s retinitis pigmentosa | Syndrom podobný PXE s retinitis pigmentosa |
| uk | Псевдоксантомоподібні еластичні шкірні прояви при пігментному ретиніті | PXE-подібний синдром з пігментним ретинітом |
| zh | 假性黄嘌呤弹力样皮肤表现伴色素性视网膜炎 | PEX样综合征合并色素性视网膜炎 |
| tr | Retinitis pigmentosa ile seyreden psödoksantoma elastikum benzeri cilt belirtileri | Retinitis pigmentosa ile seyreden PXE benzeri sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EE41.Y | NTBT | attributed | validated |
| MONDO | 0018577 | E | validated | |
| UMLS | C5680045 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:228215Genetic dermis elastic tissue disorder
rare genetic diseases; rare skin diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GGCX | Disease-causing germline mutation(s) in | Assessed | HGNC:4247 | ENSG00000115486 | 137167 | 2p11.2 | gamma-glutamyl carboxylase | 24739904[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 24739904[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24739904[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.
HPO phenotypes
11 annotations · validated 2016-11-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000973 | Cutis laxa | |
| HP:0000662 | Nyctalopia | |
| HP:0000510 | Rod-cone dystrophy | |
| Very frequent (99-80%) | ||
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0007980 | Absent retinal pigment epithelium | |
| HP:0007843 | Attenuation of retinal blood vessels | |
| HP:0007522 | Increased number of skin folds | |
| HP:0200034 | Papule | |
| HP:0001582 | Redundant skin | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0001098 | Abnormal fundus morphology | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 24739904[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/436274
- This record as JSON: /data/d/436274.json