ORPHA:98960
Thiel-Behnke corneal dystrophy
Synonyms: Anterior limiting membrane dystrophy type 2 · Anterior limiting membrane dystrophy type II · Corneal dystrophy of Bowman layer type 2 · Corneal dystrophy of Bowman layer type II · Curly fiber corneal dystrophy · Honeycomb corneal dystrophy · TBCD · Waardenburg-Jonker corneal dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thiel-Behnke corneal dystrophy | Anterior limiting membrane dystrophy type 2 · Anterior limiting membrane dystrophy type II · Corneal dystrophy of Bowman layer type 2 · Corneal dystrophy of Bowman layer type II · Curly fiber corneal dystrophy · Honeycomb corneal dystrophy · TBCD · Waardenburg-Jonker corneal dystrophy |
| fr | Dystrophie cornéenne de Thiel-Behnke | Dystrophie cornéenne de Waardenburg-Jonker · Dystrophie cornéenne de la membrane de Bowman type 2 · Dystrophie cornéenne de la membrane de Bowman type II · Dystrophie cornéenne en rayon de miel · Dystrophie de la membrane limitante antérieure type 2 · Dystrophie de la membrane limitante antérieure type II · TBCD |
| de | Thiel-Behnke-Hornhautdystrophie | Hornhautdystrophie Waardenburg-Jonker · Hornhautdystrophie der Bowman-Lamelle Typ 2 · Hornhautdystrophie der Bowman-Lamelle Typ II · Hornhautdystrophie mit gewundenen Filamenten · TBCD · Vordere limitierende Membrandystrophie Typ II · Wabenförmige Hornhautdystrophie |
| es | Distrofia corneal de Thiel-Behnke | Distrofia de la membrana limitante anterior tipo II · TBCD · Distrofia corneal con fibras rizadas · Distrofia corneal de Waardenburg-Jonker · Distrofia corneal de la capa de Bowman tipo 2 · Distrofia corneal de la capa de Bowman tipo II · Distrofia corneal en panal de miel · Distrofia de la membrana limitante anterior tipo 2 |
| it | Distrofia corneale di Thiel-Behnke | Distrofia corneale a nido d'api · Distrofia corneale con fibre a spirale · Distrofia corneale della membrana di Bowman, tipo II · Distrofia corneale di Waardenburg-Jonker · Distrofia della membrana limitante anteriore, tipo II · TBCD |
| nl | Corneadystrofie van Thiel-Behnke | "Curly fiber" corneadystrofie · Corneadystrofie van laag van Bowman type 2 · Corneadystrofie van laag van Bowman type II · Dystrofie van anterieur grensmembraan type 2 · Dystrofie van anterieur grensmembraan type II · Honingraat-corneadystrofie · TBCD · Waardenburg-Jonker-corneadystrofie |
| pt | Distrofia corneana, tipo Thiel-Behnke | |
| pl | Dystrofia rogówki Thiela i Behnkego | TBCD · Dystrofia rogówki typu "plastra miodu · Dystrofia rogówki skręconych włókien · Dystrofia rogówki Waardenburga i Jonkera · Dystrofia rogówki warstwy Bowmana typu 2 · Dystrofia rogówki warstwy Bowmana typu II · Dystrofia błony granicznej przedniej typu 2 · Dystrofia błony granicznej przedniej typu II |
| cs | Thielova-Behnkeho dystrofie rohovky | Dystrofie membrana limitans anterior, typ II · Dystrofie Bowmanovy vrstvy, typ II · Rohovková dystrofie vlnitých vláken · Voštinovitá dystrofie rohovky · TBCD · Waardenburgova-Jonkerova dystrofie rohovky · Thiel-Behnkeho dystrofie rohovky · Waardenburg-Jonkerova dystrofie rohovky |
| uk | Дистрофія рогівки Тіль-Бенке | Дистрофія передньої лімбічної мембрани 2 типу · Дистрофія передньої лімбічної мембрани II типу · Дистрофія рогівки шару Боумена 2 типу · Дистрофія рогівки шару Боумена II типу · Кучерява волокниста дистрофія рогівки · Стільникова дистрофія рогівки · TBCD · Дистрофія рогівки Ваарденбурга-Йонкера |
| zh | Thiel-Behnke角膜营养不良 | 前界膜角膜营养不良II型 |
| tr | Thiel-Behnke korneal distrofisi | TBCD · Petek kornea distrofisi · Kıvırcık lif korneal distrofi · Waardenburg-Jonker korneal distrofi · Bowman tabakası tip 2'nin kornea distrofisi · Bowman tabakası tip II'nin kornea distrofisi · Anterior sınırlayıcı membran distrofi tip 2 · Anterior sınırlayıcı membran distrofisi tip II |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602082 | E | validated | |
| ICD-10 | H18.5 | NTBT | attributed | validated |
| ICD-11 | 9A70.Y | NTBT | index | validated |
| MONDO | 0011185 | E | validated | |
| MeSH | C535942 | E | validated | |
| UMLS | C1562894 | E | validated | |
| GARD | 9275 | 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:522562Genetic superficial corneal dystrophy
rare genetic diseases - ORPHA:98625Superficial corneal dystrophy
rare ophthalmic disorders
No children.
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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 | 26464103[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 173 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | Unknown | — | 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.
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HPO phenotypes
9 annotations · validated 2021-03-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007881 | Central corneal dystrophy | |
| HP:0007924 | Slow decrease in visual acuity | |
| HP:0008039 | Subepithelial corneal opacities | |
| Frequent (79-30%) | ||
| HP:0032148 | Episodic pain | |
| HP:0200026 | Ocular pain | |
| HP:0007759 | Opacification of the corneal stroma | |
| HP:0000613 | Photophobia | |
| HP:0000495 | Recurrent corneal erosions | |
| Occasional (29-5%) | ||
| HP:0000483 | Astigmatism | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 31301286[PMID]_32491788[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98960
- This record as JSON: /data/d/98960.json