ORPHA:2989
Familial pterygium of the conjunctiva
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial pterygium of the conjunctiva | |
| fr | Ptérygium familial de la conjonctive | |
| de | Pterygium conjunctivae, familiäre Form | |
| es | Pterigión de la conjuntiva familiar | |
| it | Pterigio della congiuntiva, forma familiare | |
| nl | Familiaal pterygium van conjunctiva | Familiaal pterygium van bindvlies |
| pt | Pterígio da conjuntiva familiar | |
| pl | Postać rodzinna skrzydlika spojówki | |
| cs | Pterygium spojivky, familiární forma | |
| uk | Сімейний птеригій конюнктиви |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 178000 | E | validated | |
| ICD-10 | H11.0 | NTBT | attributed | validated |
| ICD-11 | 9A61.1 | NTBT | attributed | validated |
| MONDO | 0008337 | E | validated | |
| UMLS | C4274782 | E | validated | |
| GARD | 4569 | 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:98610Rare disorder with conjunctival involvement as a major feature
rare ophthalmic disorders
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 31 cases | Worldwide | Case(s) | Validated | 13749128[PMID]_14129265[PMID]_3661143[PMID]_2359104[PMID]_11588421[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 13749128[PMID]_14129265[PMID]_3661143[PMID]_2359104[PMID]_11588421[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.
6
HPO phenotypes
3 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 | |
| Frequent (79-30%) | ||
| HP:0007759 | Opacification of the corneal stroma | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2989
- This record as JSON: /data/d/2989.json