ORPHA:792
X-linked retinoschisis
Synonyms: X-linked juvenile retinoschisis · XLRS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare disorder involving multiple structure of the eye characterized by reduced visual acuity in males due to juvenile macular degeneration. Clinical features such as vitreous hemorrhage, retinal detachment, and neovascular glaucoma can be observed in advanced stages.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked retinoschisis | X-linked juvenile retinoschisis · XLRS |
| fr | Rétinoschisis lié à l'X | Rétinoschisis juvénile lié à l'X · XLRS |
| de | Retinoschisis, X-chromosomale | Retinoschisis, juvenile, X-chromosomale · XLRS |
| es | Retinosquisis ligada al cromosoma X | Retinosquisis juvenil ligada al cromosoma X · XLRS |
| it | Retinoschisi legata all'X | Retinoschisi giovanile legata all'X · XLRS |
| nl | X-gebonden retinoschisis | X-gebonden juveniele retinoschisis · XLRS |
| pt | Retinosquisis ligada ao X | Retinosquisis juvenil |
| pl | Wrodzone rozwarstwienie siatkówki sprzężone z chromosomem X | Rozwarstwienie siatkówki sprzężone z choromosomem X · XLRS |
| cs | X‑vázaná retinoschíza | X-vázaná juvenilní retinoschíza · XLRS |
| uk | Х-зчеплений ретиношизис | Х-зчеплений ювенільний ретиношизис · XLRS |
| zh | X连锁视网膜劈裂症 | X连锁青年性视网膜劈裂症 |
| tr | X'e bağlı retinoşiz | XLRS · X'e bağlı jüvenil retinoşiz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 312700 | E | validated | |
| ICD-10 | Q14.1 | NTBT | attributed | validated |
| ICD-11 | 9B73.11 | E | specific | validated |
| MONDO | 0010725 | E | validated | |
| UMLS | C0271091 | E | validated | |
| GARD | 4690 | 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 (7):
- ORPHA:98631Congenital malformation of the eye with glaucoma as a major feature
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:525677Genetic congenital malformation of the eye with glaucoma as a major feature
rare genetic diseases - ORPHA:717336Rare genetic isolated progressive predominantly macular disorder
rare genetic diseases - ORPHA:716367Rare isolated non-progressive generalized retinal disorder
rare genetic diseases; rare ophthalmic disorders - ORPHA:716432Rare isolated progressive predominantly macular disorder
rare ophthalmic disorders - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10457 | ENSG00000102104 | 300839 | Xp22.13 | retinoschisin 1 |
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Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 5 / 100 000 | Denmark | Value and class | Not yet validated | 17172462[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 5 / 100 000 | Netherlands | Value and class | Not yet validated | 17172462[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 5 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | 3.6 / 100 000 | France | Value and class | Validated | 1918822[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.5 / 100 000 | Europe | Value and class | Validated | 17172462[PMID]_1918822[PMID]_ ORPHANET |
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
16 annotations · validated 2024-03-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0000496 | Abnormality of eye movement | |
| HP:0000504 | Abnormality of vision | |
| HP:0000501 | Glaucoma | |
| HP:0000529 | Progressive visual loss | |
| HP:0030502 | Retinoschisis | |
| Frequent (79-30%) | ||
| HP:0000493 | Abnormal foveal morphology | |
| HP:0007984 | Electronegative electroretinogram | |
| HP:0025158 | Hyperautofluorescent retinal lesion | |
| HP:0007722 | Retinal pigment epithelial atrophy | |
| HP:0007902 | Vitreous hemorrhage | |
| Occasional (29-5%) | ||
| HP:0030825 | Absent foveal reflex | |
| HP:0030824 | Mizuo phenomenon | |
| HP:0000662 | Nyctalopia | |
| HP:0000541 | Retinal detachment | |
| HP:0000486 | Strabismus | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 20301401[PMID]_34822951[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/792
- This record as JSON: /data/d/792.json