ORPHA:293603
Congenital hereditary endothelial dystrophy type II
Synonyms: Autosomal recessive CHED · Autosomal recessive congenital hereditary endothelial dystrophy · CHED2 · CHEDII · Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy · Maumenee corneal dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital hereditary endothelial dystrophy type II | Autosomal recessive CHED · Autosomal recessive congenital hereditary endothelial dystrophy · CHED2 · CHEDII · Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy · Maumenee corneal dystrophy |
| fr | Dystrophie endothéliale congénitale héréditaire type II | Dystrophie endothéliale héréditaire infantile · CHED autosomique récessive · CHED2 · CHEDII · Dystrophie cornéenne de Maumenee · Dystrophie endothéliale congénitale autosomique récessive · Dystrophie endothéliale congénitale héréditaire type 2 |
| de | Endotheldystrophie, hereditäre kongenitale, Typ II | CHED · CHED2 · CHEDII · Endotheldystrophie, autosomal-rezessive kongenitale · Endotheldystrophie, hereditäre infantile · Endotheldystrophie, hereditäre kongenitale, 2 · Hornhautdystrophie, endotheliale, Typ Maumenee |
| es | Distrofia endotelial hereditaria congénita II | CHED autosómica recesiva · CHED2 · CHEDII · Distrofia corneal de Maumenee · Distrofia endotelial hereditaria congénita 2 · Distrofia endotelial hereditaria congénita autosómica recesiva · Distrofia endotelial hereditaria infantil |
| it | Distrofia endoteliale ereditaria congenita II | CHED autosomica recessiva · CHED2 · CHEDII · Distrofia corneale di Maumenee · Distrofia endoteliale ereditaria congenita 2 · Distrofia endoteliale ereditaria congenita autosomica recessiva · Distrofia endoteliale ereditaria infantile |
| nl | Congenitale hereditaire endotheliale dystrofie II | Autosomaal recessieve CHED · Autosomaal recessieve congenitale erfelijke endotheliale dystrofie · CHED2 · CHEDII · Congenitale erfelijke endotheliale dystrofie 2 · Infantiele erfelijke endotheliale dystrofie · Maumenee-corneadystrofie |
| pt | Distrofia endotelial hereditária congénita II | CHED autossómica recessiva · CHED2 · CHEDII · Distrofia corneana de Maumenee · Distrofia endotelial hereditária congénita 2 · Distrofia endotelial hereditária congénita, autossómica recessiva · Distrofia endotelial hereditária infantil |
| pl | Wrodzona dziedziczna dystrofia śródbłonka typu II | Autosomalna recesywna CHED · Autosomalna recesywna wrodzona dziedziczna dystrofia śródbłonka · CHED2 · CHEDII · Dystrofia rogówki Maumenee · Dziecięca dziedziczna dystrofia śródbłonka · Wrodzona dziedziczna dystrofia śródbłonka typu 2 |
| cs | Vrozená dědičná dystrofie endotelu, typ II | Autozomálné recesivní CHED · CHED2 · CHEDII · Hereditární infantilní dystrofie endotelu · Maumeneeova dystrofie rohovky · Autozomálně recesivní vrozená dědičná dystrofie endotelu · Vrozená dědičná dystrofie endotelu, typ 2 |
| uk | Вроджена спадкова ендотеліальна дистрофія, тип ІІ | Аутосомно-рецесивна CHED · Аутосомно-рецесивна вроджена спадкова ендотеліальна дистрофія · CHED2 · CHEDII · Вроджена спадкова ендотеліальна дистрофія 2 типу · Дитяча спадкова ендотеліальна дистрофія · Дистрофія рогівки Момене |
| zh | 先天性遗传性内皮营养不良II型 | 婴儿遗传性内皮营养不良 |
| tr | Doğumsal kalıtsal endotelyal distrofi tip II | CHED2 · CHEDII · Otozomal çekinik CHED · Maumenee korneal distrofi · İnfantil kalıtsal endotelyal distrofi · Doğumsal kalıtsal endotelyal distrofi tip 2 · Otozomal çekinik doğumsal kalıtsal endotelyal distrofi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 217700 | E | validated | |
| ICD-10 | H18.5 | NTBT | attributed | validated |
| ICD-11 | 9A70.0 | NTBT | index | validated |
| MONDO | 0009019 | E | validated | |
| MONDO | 9019 | E | validated | |
| MeSH | C536439 | E | validated | |
| UMLS | C1857569 | E | validated | |
| GARD | 6196 | 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 (1):
- ORPHA:98627Posterior corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC4A11 | Disease-causing germline mutation(s) in | Assessed | HGNC:16438 | ENSG00000088836 | 610206 | 20p13 | solute carrier family 4 member 11 | 16767101[PMID]_24351571[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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 2021-05-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011490 | Abnormal Descemet membrane morphology | |
| HP:0007957 | Corneal opacity | |
| HP:0012040 | Corneal stromal edema | |
| HP:0011487 | Increased corneal thickness | |
| Frequent (79-30%) | ||
| HP:0000622 | Blurred vision | |
| HP:0007663 | Reduced visual acuity | |
| Occasional (29-5%) | ||
| HP:0031792 | Irregular astigmatism | |
| HP:0000639 | Nystagmus | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 28583694[PMID]_19236704[PMID]_32491788[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293603
- This record as JSON: /data/d/293603.json