Corneal dystrophy-perceptive deafness syndrome
Synonyms: CDPD · Corneal dystrophy with progressive deafness · Corneal dystrophy with progressive hearing loss · Corneal dystrophy-perceptive hearing loss syndrome · Harboyan syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Corneal dystrophy-perceptive deafness syndrome | CDPD · Corneal dystrophy with progressive deafness · Corneal dystrophy with progressive hearing loss · Corneal dystrophy-perceptive hearing loss syndrome · Harboyan syndrome |
| fr | Syndrome de dystrophie cornéenne-surdité de perception | CDPD · Dystrophie cornéenne avec surdité progressive · Syndrome de Harboyan |
| de | Hornhautdystrophie-Schallempfindungsschwerhörigkeit-Syndrom | CDPD · Harboyan-Syndrom · Syndrom der Korneadystrophie mit Schallempfindungsschwerhörigkeit |
| es | Síndrome de distrofia de córnea-sordera de percepción | Distrofia corneal con sordera progresiva · Síndrome de distrofia corneal-hipoacusia de percepción · Distrofia corneal con hipoacusia progresiva |
| it | Distrofia corneale - sordità percettiva | CDPD · Distrofia corneale con sordità progressiva |
| nl | Corneadystrofie - perceptieve doofheid-syndroom | CDPD · Corneadystrofie - perceptief gehoorverlies-syndroom · Corneadystrofie met progressief gehoorverlies · Corneadystrofie met progressieve doofheid · Syndroom van Harboyan |
| pt | Síndrome de distrofia da córnea-surdez percetiva | |
| pl | Dystrofia rogówki - głuchota odbiorcza | CDPD · Dystrofia rogówki z głuchotą postępującą · Zespół Harboyana |
| cs | Syndrom zahrnující dystrofii rohovky a percepční hluchotu | CDPD · Dystrofie rohovky s progresivní hluchotou · Harboyanův syndrom |
| uk | Синдром дистрофії рогівки-перцептивної глухоти | CDPD · Дистрофія рогівки з прогресуючою глухотою · Дистрофія рогівки з прогресуючою втратою слуху · Синдром дистрофії рогівки - перцептивної приглухуватості · Синдром Гарбояна |
| zh | 角膜营养不良-感音性聋综合征 | 角膜营养不良-感音性听力丧失综合征 |
| tr | Kornea distrofisi-algılayıcı sağırlık sendromu | CDPD · Harboyan sendromu · İlerleyici sağırlık ile seyreden kornea distrofisi · İlerleyici işitme kaybı ile seyreden kornea distrofisi · Korneal distrofi-algısal işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 217400 | E | validated | |
| ICD-10 | H18.5 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0009015 | E | validated | |
| MeSH | C535473 | E | validated | |
| UMLS | C1857572 | E | validated | |
| GARD | 1529 | 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 (2):
- ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:98628Syndromic corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
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 | 17220209[PMID]_18922146[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18922146[PMID] |
| Cases/families | 24 cases | Worldwide | Case(s) | Validated | 18922146[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.
HPO phenotypes
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001131 | Corneal dystrophy | |
| HP:0007957 | Corneal opacity | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0000639 | Nystagmus | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1490
- This record as JSON: /data/d/1490.json