Granular corneal dystrophy type II
Synonyms: Avellino corneal dystrophy · GCD2 · GCDII · Granular corneal dystrophy type 2 · Granular-lattice corneal dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Granular corneal dystrophy type II | Avellino corneal dystrophy · GCD2 · GCDII · Granular corneal dystrophy type 2 · Granular-lattice corneal dystrophy |
| fr | Dystrophie cornéenne granulaire type II | Dystrophie cornéenne combinée granulaire-réseau · Dystrophie cornéenne d'Avellino · Dystrophie cornéenne granulaire type 2 · GCD2 · GCDII |
| de | Granuläre Hornhautdystrophie Typ II | Avellino-Dystrophie · GCD2 · GCDII · Hornhautdystrophie Typ Avellino · Hornhautdystrophie, granulär-gittrige |
| es | Distrofia corneal granular tipo 2 | Distrofia corneal granular tipo II |
| it | Distrofia corneale granulare, tipo II | Distrofia corneale di Avellino · Distrofia corneale granulare, tipo 2 · Distrofia corneale granulare-reticolare · GCD2 · GCDII |
| nl | Granulaire corneadystrofie type II | Corneadystrofie van Avellino · GCD2 · GCDII · Granulaire corneadystrofie type 2 · Granulaire-lattice corneadystrofie |
| pt | Distrofia corneana, tipo Avellino | |
| pl | Ziarnista dystrofia rogówki typu II | Dystrofia rogówki Avellino · GCD2 · GCDII · Ziarnista dystrofia rogówki typu 2 · Ziarnisto-siateczkowata dystrofia rogówki |
| cs | Granulární dystrofie rohovky, typ II | Dystrofie rohovky, typ Avellino · GCD2 · GCDII · Granulární dystrofie rohovky, typ 2 · Granulárně mřížková dystrofie |
| uk | Зерниста дистрофія рогівки, тип II | Дистрофія рогівки Авелліно · GCD2 · GCDII · Зерниста дистрофія рогівки 2 типу · Зернисто-гратчаста дистрофія рогівки |
| zh | 颗粒状角膜营养不良II型 | 颗粒-晶格状角膜营养不良 |
| tr | Granüler korneal distrofi tip II | GCD2 · GCDII · Avellino kornea distrofisi · Granüler korneal distrofi tip 2 · Granüler-latis kornea distrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607541 | E | validated | |
| ICD-10 | H18.5 | NTBT | attributed | validated |
| ICD-11 | 9A70.Y | NTBT | attributed | validated |
| MONDO | 0011855 | E | validated | |
| MeSH | C535474 | E | validated | |
| UMLS | C1275685 | E | validated | |
| GARD | 9278 | 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 | 22815629[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
9 annotations · validated 2021-10-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011493 | Central opacification of the cornea | |
| HP:0000531 | Corneal crystals | |
| HP:0007802 | Granular corneal dystrophy | |
| Frequent (79-30%) | ||
| HP:0007759 | Opacification of the corneal stroma | |
| HP:0007663 | Reduced visual acuity | |
| HP:0008039 | Subepithelial corneal opacities | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0000622 | Blurred vision | |
| HP:0000495 | Recurrent corneal erosions | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 33344199[PMID]_32667742[PMID]_28583694[PMID]_30805211[PMID]_32952948[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98963
- This record as JSON: /data/d/98963.json