Schnyder corneal dystrophy
Synonyms: Crystalline stromal dystrophy · Hereditary crystalline stromal dystrophy of Schnyder · SCCD · SCD · Schnyder crystalline corneal dystrophy · Schnyder crystalline dystrophy sine crystals
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Schnyder corneal dystrophy | Crystalline stromal dystrophy · Hereditary crystalline stromal dystrophy of Schnyder · SCCD · SCD · Schnyder crystalline corneal dystrophy · Schnyder crystalline dystrophy sine crystals |
| fr | Dystrophie cornéenne de Schnyder | Dystrophie cornéenne cristalline de Schnyder · Dystrophie cristalline de Schnyder sans cristaux · Dystrophie stromale cristalline · Dystrophie stromale cristalline héréditaire de Schnyder · SCCD |
| de | Schnyder-Hornhautdystrophie | Kristalline stromale Dystrophie · SCCD · SCD · Schnydersche kristalline Hornhautdystrophie |
| es | Distrofia corneal cristalina de Schnyder | |
| it | Distrofia corneale cristallina di Schnyder | |
| nl | Corneadystrofie van Schnyder | Erfelijke kristallijne stromale dystrofie van Schnyder · Kristallijne corneadystrofie van Schnyder · Kristallijne dystrofie van Schnyder zonder kristallen · Kristallijne stromale dystrofie · SCCD · SCD |
| pt | Distrofia corneana cristalina, tipo Schnyder | |
| pl | Dystrofia rogówki Schnydera | Dziedziczna krystaliczna dystrofia rogówki Schnydera · Krystaliczna dystrofia istoty właściwej · Krystaliczna dystrofia rogówki Schnydera · Krystaliczna dystrofia rogówki Schnydera bez kryształów · SCCD · SCD |
| cs | Schnyderova dystrofie rohovky | Krystalická stromální dystrofie · Hereditární krystalická stromální Schnyderova dystrofie · SCCD · SCD · Schnyderova krystalická dystrofie rohovky · Schnyderova centrální krystalická dystrofie · Schnyderova krystalická dystrofie bez krystalů |
| uk | Дистрофія рогівки Шнайдера | Кристалічна стромальна дистрофія · Спадкова кристалічна стромальна дистрофія Шнайдера · SCCD · SCD · Кристалічна дистрофія рогівки Шнайдера · Синусоїдальні кристали кристалічної дистрофії Шнайдера |
| zh | 施耐德角膜营养不良 | Schnyder 遗传性晶体状角膜基质营养不良 |
| tr | Schnyder korneal distrofisi | SCD · SCCD · Kristalin stromal distrofi · Schnyder kristalin korneal distrofi · Schnyder kristalin distrofi sinüs kristalleri · Schnyder'in kalıtsal kristal stromal distrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 121800 | E | validated | |
| ICD-10 | H18.5 | NTBT | attributed | validated |
| ICD-11 | 9A70.Y | NTBT | index | validated |
| MONDO | 0007374 | E | validated | |
| MeSH | C535475 | E | validated | |
| UMLS | C0271287 | E | validated | |
| GARD | 9277 | 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:98968Central discoid corneal dystrophy moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| UBIAD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:30791 | ENSG00000120942 | 611632 | 1p36.22 | UbiA prenyltransferase domain containing 1 | 23169578[PMID]_22065921[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 115 cases | Worldwide | Case(s) | Validated | 19398911[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98967
- This record as JSON: /data/d/98967.json