ORPHA:647815
Keratitis fugax hereditaria
Synonyms: KFH · Keratoendotheliitis fugax hereditaria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare ophthalmic disorder characterized by periodic inflammatory attacks of the cornea manifesting as unilateral ocular pain, conjunctival hyperemia, photophobia and epiphora lasting for 1 to 3 days, followed by blurred vision for several weeks.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Keratitis fugax hereditaria | KFH · Keratoendotheliitis fugax hereditaria |
| fr | Kératite fugace héréditaire | Kérato-endothélite héréditaire fugace · Kératoendothélite héréditaire fugace |
| de | Keratoendotheliitis fugax hereditaria | KFH |
| es | Queratoendotelitis fugaz hereditaria | |
| it | Cheratoendotelite fugace ereditaria | KFH |
| nl | Keratitis fugax hereditaria | = en |
| pt | Queratoendotelite fugax hereditária | KFH |
| pl | Dziedziczne napadowe zapalenie śródbłonka rogówki | = en |
| cs | Keratitis fugax hereditaria | = en |
| uk | Спадковий fugax кератит | Спадковий кератоендотеліїт фугасний · KFH |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 148200 | E | validated | |
| ICD-10 | H16.8 | NTBT | attributed | validated |
| ICD-11 | 9C61.25 | E | specific | validated |
| MONDO | 0007849 | E | validated | |
| MONDO | 7849 | E | validated | |
| UMLS | C1835697 | 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:208650NLRP3-associated autoinflammatory disease
rare genetic diseases; rare skin diseases; rare immunological diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood - ORPHA:519329Rare disorder involving multiple structures of the eye
rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NLRP3 | Disease-causing germline mutation(s) in | Assessed | HGNC:16400 | ENSG00000162711 | 606416 | 1q44 | NLR family pyrin domain containing 3 | 36275641[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/647815
- This record as JSON: /data/d/647815.json