ORPHA:2253
Foveal hypoplasia-presenile cataract syndrome
Synonyms: O'Donnell-Pappas syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Foveal hypoplasia-presenile cataract syndrome | O'Donnell-Pappas syndrome |
| fr | Syndrome d'hypoplasie fovéale-cataracte présénile | Syndrome d'O'Donnell-Pappas |
| de | Foveahypoplasie - präsenile Katarakt | O-Donnell-Pappas-Syndrom |
| es | Síndrome de hipoplasia foveal-catarata presenil | Síndrome de O'Donnell-Pappas |
| it | Ipoplasia della fovea - cataratta presenile | Sindrome di O'Donnell-Pappas |
| nl | Foveale hypoplasie - preseniel cataract-syndroom | Syndroom van O'Donnell-Pappas |
| pt | Síndrome de hipoplasia da fóvea-catarata pré-senil | Síndrome O'Donnell-Pappas |
| pl | Hipoplazja dołka - zaćma przedstarcza | Zespół O'Donnella i Pappasa |
| cs | Foveální hypoplázie asociovanáa s presenilní kataraktou | O´Donnellův-Pappasův syndrom · O´Donnell-Pappasův syndrom |
| uk | Синдром гіпоплазії макули - пресенільної катаракти | Синдром ОДоннела-Паппаса |
| zh | 中央凹发育不全-早老性白内障综合征 | O'Donnell-Pappas综合征 |
| tr | Foveal hipoplazi-presenil katarakt sendromu | O'Donnell-Pappas sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 136520 | NTBT | validated | |
| ICD-10 | H26.0 | NTBT | attributed | validated |
| ICD-11 | 9C2Y | NTBT | index | validated |
| MONDO | 0016395 | E | validated | |
| MeSH | C537858 | E | validated | |
| UMLS | C2931644 | E | validated | |
| GARD | 406 | 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 (2):
- 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 |
|---|---|---|---|---|---|---|---|---|
| PAX6 | Disease-causing germline mutation(s) in | Assessed | HGNC:8620 | ENSG00000007372 | 607108 | 11p13 | paired box 6 | 9931324[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0000518 | Cataract | |
| HP:0007440 | Generalized hyperpigmentation | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| Frequent (79-30%) | ||
| HP:0000486 | Strabismus | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2253
- This record as JSON: /data/d/2253.json