ORPHA:898
Wagner disease
Synonyms: Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy · Vitreoretinal degeneration, Wagner type · Wagner syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Wagner disease | Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy · Vitreoretinal degeneration, Wagner type · Wagner syndrome |
| fr | Maladie de Wagner | Dystrophie hyaloïdéo-rétinienne dominante de Wagner · Dégénérescence vitréo-rétinienne de Wagner · Syndrome de Wagner · Vitréo-rétinopathie liée à VCAN |
| de | Wagner-Krankheit | Degeneration, vitreoretinale, Typ Wagner · Vitreoretinopathie, VCAN-abhängige · Wagner-Syndrom |
| es | Enfermedad de Wagner | Degeneración vitreorretiniana de Wagner · Distrofia dominante hialoideo-retiniana de Wagner · Síndrome de Wagner · Vitreorretinopatía asociada a VCAN |
| it | Malattia di Wagner | Degenerazione vitreoretinica di Wagner · Distrofia ialoidoretinica di Wagner · Sindrome di Wagner · Vitreoretinopatia legata a VCAN |
| nl | Ziekte van Wagner | Dominante hyaloïdeoretinale dystrofie van Wagner · Syndroom van Wagner · VCAN-gerelateerde vitreoretinopathie · Vitreoretinale degeneratie, Wagner-type |
| pt | Doença de Wagner | Degenerescência vitreo-retiniana |
| pl | Choroba Wagnera | Witreoretinopatia związana z VCAN · Zespół Wagnera · Zwyrodnienie ciała szklistego i siatkówki, typ Wagnera |
| cs | Wagnerova choroba | Wagnerova dominantní hyaloideoretinální dystrofie · VCAN-vázaná vitreoretinopatie · Vitreoretinální degenerace, Wagnerův typ · Wagnerův syndrom |
| uk | Хвороба Вагнера | Домінантна гіалоідеоретинальна дистрофія Вагнера · Вітреоретинопатія, повязана з VCAN · Вітреоретинальна дегенерація, тип Вагнера · Синдром Вагнера |
| zh | Wagner病 | Wagner显性遗传玻璃体视网膜营养不良 |
| tr | Wagner hastalığı | Wagner sendromu · VCAN-ilişkili vitreoretinopati · Vitreoretinal dejenerasyon, Wagner tipi · Wagner dominant hyaloideoretinal distrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 143200 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B80 | NTBT | index | validated |
| MONDO | 0007740 | E | validated | |
| MeSH | C536075 | E | validated | |
| UMLS | C1840452 | E | validated | |
| GARD | 7871 | E | validated | |
| MedDRA | 10063383 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:716441Rare isolated progressive vitreoretinopathy
rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| VCAN | Disease-causing germline mutation(s) in | Assessed | HGNC:2464 | ENSG00000038427 | 118661 | 5q14.2-q14.3 | versican | 20301747[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | 32818279[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 39336769[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.
6
HPO phenotypes
13 annotations · validated 2025-07-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0030466 | Abnormal full-field electroretinogram | |
| HP:0000533 | Chorioretinal atrophy | |
| HP:0000545 | Myopia | |
| HP:0000662 | Nyctalopia | |
| HP:0030663 | Optically empty vitreous | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0007819 | Presenile cataracts | |
| HP:0007663 | Reduced visual acuity | |
| HP:0000541 | Retinal detachment | |
| Occasional (29-5%) | ||
| HP:0025007 | Ectopic fovea | |
| HP:0000501 | Glaucoma | |
| HP:0000572 | Visual loss | |
| Very rare (<4-1%) | ||
| HP:0012122 | Anterior uveitis | |
Annotation source: 32854301[PMID]_29071374[PMID]_29071374[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/898
- This record as JSON: /data/d/898.json