Macular corneal dystrophy
Synonyms: Corneal dystrophy Groenouw type II · Fehr corneal dystrophy · MCD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Macular corneal dystrophy | Corneal dystrophy Groenouw type II · Fehr corneal dystrophy · MCD |
| fr | Dystrophie cornéenne maculaire | Dystrophie cornéenne de Fehr · Dystrophie cornéenne de Groenouw type II · MCD |
| de | Hornhautdystrophie, makuläre | Fehr-fleckige Hornhautdystrophie · Groenouw-Hornhautdystrophie Typ II · MCD |
| es | Distrofia corneal macular | Distrofia corneal de Fehr · Distrofia corneal de Groenouw tipo II |
| it | Distrofia corneale maculare | Distrofia corneale di Fehr · Distrofia corneale di Groenouw, tipo II · MCD |
| nl | Maculaire corneadystrofie | Corneadystrofie van Fehr · Corneadystrofie, Groenouw-type II · MCD · Maculaire hoornvliesdystrofie |
| pt | Distrofia corneana, tipo macular | |
| pl | plamkowata dystrofia rogówki | Dystrofia rogówki Fehra · Dystrofia rogówki Groenouwa typu II · MCD |
| cs | Makulární dystrofie rohovky | Fehrové dystrofie rohovky · MCD · Dystrofie rohovky, Groenouwův typ II |
| uk | Макулярна дистрофія рогівки | Дистрофія рогівки Гренуя типу II · Дистрофія рогівки Фера · MCD |
| zh | 斑点状角膜营养不良 | Groenouw II型角膜营养不良 |
| tr | Maküler kornea distrofisi | MCD · Fehr korneal distrofi · Korneal distrofi Groenouw tip II |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 217800 | E | validated | |
| ICD-10 | H18.5 | NTBT | attributed | validated |
| ICD-11 | 9A70.Y | NTBT | index | validated |
| MONDO | 0009020 | E | validated | |
| UMLS | C0024439 | E | validated | |
| GARD | 6953 | E | validated | |
| MedDRA | 10025406 | 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 |
|---|---|---|---|---|---|---|---|---|
| CHST6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6938 | ENSG00000183196 | 605294 | 16q23.1 | carbohydrate sulfotransferase 6 | 11017086[PMID]_19365571[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | United States | Value and class | Not yet validated | 21791583[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | 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
11 annotations · validated 2019-06-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0000531 | Corneal crystals | |
| HP:0007759 | Opacification of the corneal stroma | |
| HP:0007856 | Punctate opacification of the cornea | |
| Frequent (79-30%) | ||
| HP:0100689 | Decreased corneal thickness | |
| HP:0000495 | Recurrent corneal erosions | |
| HP:0001141 | Severely reduced visual acuity | |
| Occasional (29-5%) | ||
| HP:0012155 | Decreased corneal sensation | |
| HP:0000484 | Hyperopic astigmatism | |
| HP:0200026 | Ocular pain | |
| HP:0000613 | Photophobia | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 30716718[PMID]_29604391[PMID]_6447876[PMID]_13790593[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98969
- This record as JSON: /data/d/98969.json