Granular corneal dystrophy type I
Synonyms: Classic GCD · Classic granular corneal dystrophy · Corneal dystrophy Groenouw type I · GCD1 · GCDI · Granular corneal dystrophy type 1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Granular corneal dystrophy type I | Classic GCD · Classic granular corneal dystrophy · Corneal dystrophy Groenouw type I · GCD1 · GCDI · Granular corneal dystrophy type 1 |
| fr | Dystrophie cornéenne granulaire type I | Dystrophie cornéenne de Groenouw type I · Dystrophie cornéenne granulaire classique · Dystrophie cornéenne granulaire type 1 · GCD1 · GCDI |
| de | Granuläre Hornhautdystrophie Typ I | GCD1 · Granuläre Hornhautdystrophie, klassische · Groenouw-Hornhautdystrophie Typ I · Hornhautdystrophie, granuläre, Typ 1 |
| es | Distrofia corneal granular tipo I | Distrofia corneal de Groenouw tipo I · Distrofia corneal granular clásica · Distrofia corneal granular tipo 1 · GCD clásica · GCD1 · GCDI |
| it | Distrofia corneale granulare, tipo I | Distrofia corneale di Groenouw, tipo I · Distrofia corneale granulare classica · Distrofia corneale granulare, tipo 1 · GCD classica · GCD1 · GCDI |
| nl | Granulaire corneadystrofie type I | Corneadystrofie, Groenouw-type I · GCD1 · GCDI · Granulaire corneadystrofie type 1 · Klassieke GCD · Klassieke granulaire corneadystrofie |
| pt | Distrofia corneana, tipo Groenouw | |
| pl | Ziarnista dystrofia rogówki typu I | Dystrofia rogówki Groenouwa typu I · GCD1 · GCDI · Klasyczna GCD · Klasyczna ziarnista dystrofia rogówki · Ziarnista dystrofia rogówki typu 1 |
| cs | Granulární dystrofie rohovky, typ I | Klasická GCD · Klasická granulární dystrofie rohovky · GCD1 · GCDI · Granulární dystrofie rohovky, typ 1 · Dystrofie rohovky, Groenouwův typ I |
| uk | Зерниста дистрофія рогівки, тип I | Класичний ГДР · Класична гранулярна дистрофія рогівки · Дистрофія рогівки Гренуя I типу · GCD1 · GCDI · Зерниста дистрофія рогівки, тип 1 |
| zh | 颗粒状角膜营养不良I型 | 典型颗粒状角膜营养不良 |
| tr | Granüler korneal distrofi tip I | GCD1 · GCDI · Klasik GCD · Korneal distrofi Groenouw tip I · Granüler kornea distrofisi tip 1 · Klasik granüler kornea distrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 121900 | E | validated | |
| ICD-10 | H18.5 | NTBT | attributed | validated |
| ICD-11 | 9A70.Y | NTBT | attributed | validated |
| MONDO | 0007377 | E | validated | |
| MeSH | C537304 | E | validated | |
| UMLS | C1641846 | E | validated | |
| GARD | 9677 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98626Stromal corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TGFBI | Disease-causing germline mutation(s) in | Assessed | HGNC:11771 | ENSG00000120708 | 601692 | 5q31.1 | transforming growth factor beta induced | 21264234[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
10 annotations · validated 2021-10-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007881 | Central corneal dystrophy | |
| HP:0000531 | Corneal crystals | |
| Frequent (79-30%) | ||
| HP:0011493 | Central opacification of the cornea | |
| HP:0000495 | Recurrent corneal erosions | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0011495 | Abnormal corneal epithelium morphology | |
| HP:0200026 | Ocular pain | |
| HP:0000613 | Photophobia | |
| HP:0007663 | Reduced visual acuity | |
| HP:0008039 | Subepithelial corneal opacities | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 32366062[PMID]_23991378[PMID]_31322463[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98962
- This record as JSON: /data/d/98962.json