ORPHA:98971
Posterior amorphous corneal dystrophy
Synonyms: PACD · Posterior amorphous stromal dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Posterior amorphous corneal dystrophy | PACD · Posterior amorphous stromal dystrophy |
| fr | Dystrophie cornéenne amorphe postérieure | Dystrophie stromale amorphe postérieure · PACD |
| de | Hornhautdystrophie, amorphe posteriore | PACD · Posteriore amorphe Stromadystrophie |
| es | Distrofia corneal posterior amorfa | |
| it | Distrofia corneale amorfa posteriore | Distrofia stromale amorfa posteriore · PACD |
| nl | Posterieure amorfe corneadystrofie | PACD · Posterieure amorfe hoornvliesdystrofie · Posterieure amorfe stromale dystrofie |
| pt | Distrofia corneana, posterior amorfa | |
| pl | Amorficzna tylna dystrofia rogówki | Amorficzna tylna dystrofia istoty właściwej · PACD |
| cs | Zadní amorfní dystrofie rohovky | PACD · Zadní amorfní stromální dystrofie rohovky |
| uk | Задня аморфна дистрофія рогівки | PACD · Задня аморфна стромальна дистрофія |
| zh | 后部多形性角膜营养不良 | 后部多形性角膜基质营养不良 |
| tr | Posterior amorf korneal distrofi | PACD · Posterior amorf stromal distrofi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612868 | E | validated | |
| ICD-10 | H18.5 | NTBT | attributed | validated |
| ICD-11 | 9A70.Y | NTBT | index | validated |
| MONDO | 0013027 | E | validated | |
| MeSH | C567546 | E | validated | |
| UMLS | C2748502 | 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 (1):
- ORPHA:98626Stromal corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 families | Worldwide | Family(ies) | Validated | 301356[PMID]_2314832[PMID]_1582220[PMID]_7573302[PMID]_8600425[PMID]_17273695[PMID]_17300585[PMID]_11862100[PMID] | |
| 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98971
- This record as JSON: /data/d/98971.json