ORPHA:98970
Fleck corneal dystrophy
Synonyms: FCD · François-Neetens speckled corneal dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fleck corneal dystrophy | FCD · François-Neetens speckled corneal dystrophy |
| fr | Dystrophie cornéenne mouchetée | Dystrophie cornéenne mouchetée de François-Neetens · FCD |
| de | Fleckchen-Hornhautdystrophie | FCD · François-Neetens fleckige Hornhautdystrophie |
| es | Distrofia corneal moteada | Distrofia corneal moteada de François-Neetens · Distrofia moteada de la córnea · FCD |
| it | Distrofia corneale a macchie | Distrofia corneale a macchie di François-Neetens · FCD |
| nl | Corneadystrofie van Fleck | FCD · Gespikkelde corneadystrofie van François-Neetens · Hoornvliesdystrofie van Fleck |
| pt | Distrofia corneana mosqueada, tipo Francois-Neetens | |
| pl | plamkowa dystrofia rogówki | FCD · plamista dystrofia rogówki François i Neetensa |
| cs | Fleck dystrofie rohovky | FCD · Françoisova-Neetensova skvrnitá dystrofie rohovky |
| uk | Флективна дистрофія рогівки | FCD · Крапчаста дистрофія рогівки Франсуа-Нітенса |
| zh | FLECK角膜营养不良 | François-Neetens斑点状角膜营养不良 |
| tr | Fleck korneal distrofisi | FCD · François-Neetens benekli korneal distrofi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 121850 | E | validated | |
| ICD-10 | H18.5 | NTBT | attributed | validated |
| ICD-11 | 9A70.Y | NTBT | index | validated |
| MONDO | 0007376 | E | validated | |
| MeSH | C563256 | E | validated | |
| UMLS | C1562113 | 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:98626Stromal corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIKFYVE | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:23785 | ENSG00000115020 | 609414 | 2q34 | phosphoinositide kinase, FYVE-type zinc finger containing | 22065932[PMID]_26396486[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 139144[PMID]_7950337[PMID]_141212[PMID]_14078376[PMID]_10660318[PMID]_19948560[PMID]_22065932[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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98970
- This record as JSON: /data/d/98970.json