ORPHA:891
Familial exudative vitreoretinopathy
Synonyms: Criswick-Schepens syndrome · FEVR
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial exudative vitreoretinopathy | Criswick-Schepens syndrome · FEVR |
| fr | Vitréorétinopathie exsudative familiale | FEVR · Syndrome de Criswick-Schepens |
| de | Retinopathie, exsudative familiäre | Criswick-Schepens-Syndrom · FEVR |
| es | Vitreorretinopatía exudativa familiar | FEVR · Síndrome de Criswick-Schepens |
| it | Vitreoretinopatia essudativa familiare | FEVR · Sindrome di Criswick-Schepens |
| nl | Familiale exsudatieve vitreoretinopathie | FEVR · Syndroom van Criswick-Schepens |
| pt | Vitreorretinopatia exsudativa familiar | FEVR · Síndrome Criswick-Schepens |
| pl | Rodzinna wysiękowa witreoretinopatia | FEVR · Zespół Criswicka i Schepensa |
| cs | Familiární exsudativní vitreoretinopatie | FEVR · Criswickův-Schepensův syndrom · Criswick-Schepensův syndrom |
| uk | Сімейна ексудативна вітреоретинопатія | Синдром Крисвіка-Шепенса · FEVR |
| zh | 家族性渗出性玻璃体视网膜病变 | Criswick-Schepens综合症 |
| tr | ailesel eksudatif vitreoretinopati | FEVR · Criswick-Schepens sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 133780 | BTNT | validated | |
| OMIM | 305390 | BTNT | validated | |
| OMIM | 601813 | BTNT | validated | |
| OMIM | 605750 | BTNT | validated | |
| OMIM | 613310 | BTNT | validated | |
| OMIM | 616468 | BTNT | validated | |
| OMIM | 617572 | BTNT | validated | |
| ICD-10 | H35.0 | NTBT | inclusion | validated |
| ICD-11 | LA13.3 | NTBT | index | validated |
| MONDO | 19516 | E | validated | |
| MeSH | D000080345 | E | validated | |
| UMLS | C0339539 | E | validated | |
| GARD | 1613 | 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 (5):
- ORPHA:183503Genetic central nervous system and retinal vascular disease
rare genetic diseases - ORPHA:71281Rare central nervous system and retinal vascular disease
rare neurological diseases - ORPHA:717345Rare genetic isolated progressive retinal vasculopathy
rare genetic diseases - ORPHA:716466Rare isolated progressive retinal vasculopathy
rare ophthalmic disorders - ORPHA:716441Rare isolated progressive vitreoretinopathy
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTNNB1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2514 | ENSG00000168036 | 116806 | 3p22.1 | catenin beta 1 | 28575650[PMID] |
| FZD4 | Disease-causing germline mutation(s) in | Assessed | HGNC:4042 | ENSG00000174804 | 604579 | 11q14.2 | frizzled class receptor 4 | 20301326[PMID] |
| LRP5 | Disease-causing germline mutation(s) in | Assessed | HGNC:6697 | ENSG00000162337 | 603506 | 11q13.2 | LDL receptor related protein 5 | 20301326[PMID] |
| NDP | Disease-causing germline mutation(s) in | Assessed | HGNC:7678 | ENSG00000124479 | 300658 | Xp11.3 | norrin cystine knot growth factor NDP | 20301506[PMID] |
| TSPAN12 | Disease-causing germline mutation(s) in | Assessed | HGNC:21641 | ENSG00000106025 | 613138 | 7q31.31 | tetraspanin 12 | 20301326[PMID] |
| ZNF408 | Disease-causing germline mutation(s) in | Assessed | HGNC:20041 | ENSG00000175213 | 616454 | 11p11.2 | zinc finger protein 408 | 23716659[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 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
27 annotations · validated 2021-08-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0007773 | Vitreoretinopathy | |
| Very frequent (99-80%) | ||
| HP:0007685 | Peripheral retinal avascularization | |
| Frequent (79-30%) | ||
| HP:0012795 | Abnormality of the optic disc | |
| HP:0001493 | Falciform retinal fold | |
| HP:0007663 | Reduced visual acuity | |
| HP:0030666 | Retinal neovascularization | |
| HP:0031526 | Subretinal fluid | |
| HP:0007917 | Tractional retinal detachment | |
| Occasional (29-5%) | ||
| HP:0000618 | Blindness | |
| HP:0000518 | Cataract | |
| HP:0000533 | Chorioretinal atrophy | |
| HP:0100014 | Epiretinal membrane | |
| HP:0000365 | Hearing impairment | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001004 | Lymphedema | |
| HP:0040049 | Macular edema | |
| HP:0030496 | Macular exudate | |
| HP:0030503 | Macular telangiectasia | |
| HP:0000252 | Microcephaly | |
| HP:0000568 | Microphthalmia | |
| HP:0011342 | Mild global developmental delay | |
| HP:0001270 | Motor delay | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0012230 | Rhegmatogenous retinal detachment | |
| HP:0001141 | Severely reduced visual acuity | |
| HP:0100832 | Vitreous floaters | |
| HP:0007902 | Vitreous hemorrhage | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 32039639[PMID]_29633588[PMID]_32730767[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/891
- This record as JSON: /data/d/891.json