ORPHA:293936
EDICT syndrome
Synonyms: Autosomal dominant keratoconus with early-onset anterior polar cataracts · Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome · Familial keratoconus with cataract · KTCNCT
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare, autosomal dominant, eye disorder representing a constellation of inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | EDICT syndrome | Autosomal dominant keratoconus with early-onset anterior polar cataracts · Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome · Familial keratoconus with cataract · KTCNCT |
| fr | Syndrome EDICT | KTCNCT · Kératocône autosomique dominant avec cataracte polaire antérieure précoce · Kératocône familial avec cataracte · Syndrome de dystrophie endothéliale-hypoplasie de l'iris-cataracte congénitale-amincissement stromal |
| de | EDICT-Syndrom | Endotheldystrophie-Irishypoplasie-kongenitale Katarakt-Stroma-Ausdünnung-Syndrom · KTCNCT · Keratokonus -anteriore polare Katarakt, autosomal-dominant · Keratokonus mit Katarakt, familiär |
| es | Síndrome EDICT | Síndrome de distrofia endotelial-hipoplasia del iris-catarata congénita-adelgazamiento estromal · KTCNCT · Queratocono autosómico dominante con cataratas polares anteriores de inicio precoz · Queratocono familiar con cataratas |
| it | Sindrome EDICT | Cheratocono autosomico dominante con cataratte polari anteriori a esordio precoce · Cheratocono familiare con cataratta · KTCNCT · Sindrome distrofia endoteliale-ipoplasia iridea-cataratta congenita-assottigliamento stromale |
| nl | EDICT-syndroom | Autosomaal dominante keratoconus met vroeg aanvangend anterieur polair cataract · Autosomaal dominante keratoconus met vroeg aanvangend voorste polair cataract · Endotheliale dystrofie - irishypoplasie - congenitaal cataract - stromale verdunning-syndroom · Familiale keratoconus met cataract · KTCNCT |
| pt | Síndrome EDICT | KTCNCT · Queratocone autossómico dominante com catarata polar anterior de início precoce · Queratocone familiar com catarata · Síndrome de distrofia endotelial-hipoplasia da íris-catarata congénita-adelgaçamento do estroma |
| pl | Zespół EDICT | Autosomalny dominujący stożek rogówki z zaćmą biegunową o wczesnym początku · KTCNCT · Rodzinny stożek rogówki z zaćmą · Zespół dystrofia śródbłonka-hipoplazja tęczówki-zaćma wrodzona-ścieńczenie zrębu |
| cs | Familiární keratokonus s kataraktou | EDICT syndrom · KTCNCT · Autozomálně dominantní keratokonus s přední polární kataraktou s časným nástupem · Syndrom zahrnující dystrofii endotelu, hypoplázii duhovky, vrozenou kataraktu a stromální ztenčení |
| uk | Синдром EDICT | Аутосомно-домінантний кератоконус з ранньою передньою полярною катарактою · Ендотеліальна дистрофія - гіпоплазія райдужки - вроджена катаракта - синдром стоншення строми · Сімейний кератоконус з катарактою · KTCNCT |
| zh | 内皮营养不良-虹膜发育不良-先天性白内障-基质变薄综合征 | 内皮营养不良-虹膜发育不良-先天性白内障-基质变薄综合征 |
| tr | EDICT sendromu | KTCNCT · Katarakt ile seyreden ailesel keratokonus · Erken başlangıçlı anterior polar katarakt ile seyreden otozomal baskın keratokonus · Endotel distrofisi-iris hipoplazisi-doğumsal katarakt-stromal incelme sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614303 | E | validated | |
| ICD-10 | H18.6 | NTBT | attributed | validated |
| ICD-11 | 9B3Y | NTBT | attributed | validated |
| MONDO | 0013678 | E | validated | |
| UMLS | C3280392 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:522564Syndromic genetic keratoconus
rare genetic diseases - ORPHA:98623Syndromic keratoconus
rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MIR184 | Disease-causing germline mutation(s) in | Assessed | HGNC:31555 | ENSG00000207695 | 613146 | 15q25.1 | microRNA 184 | 21996275[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 families | Worldwide | Family(ies) | Validated | 22131394[PMID]_24138095[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22131394[PMID]_24138095[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293936
- This record as JSON: /data/d/293936.json