Pediatric-onset glaucoma of genetic origin
Synonyms: Hereditary glaucoma
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. It can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pediatric-onset glaucoma of genetic origin | Hereditary glaucoma |
| fr | Glaucome à début pédiatrique d'origine génétique | Glaucome familial |
| de | Glaukom, genetisch bedingtes, mit Beginn im Kindesalter | Glaukom, hereditäres |
| es | Glaucoma de inicio pediátrico de origen genético | Glaucoma hereditario |
| it | Glaucoma ereditario | |
| nl | Glaucoom van genetische oorsprong en met pediatrische aanvang | Erfelijk glaucoom · Hereditair glaucoom |
| pt | Glaucoma de origem genética de início pediátrico | Glaucoma hereditário |
| pl | Jaskara dziedziczna | = en |
| cs | Dědičný glaukom | = en |
| uk | Генетично обумовлена глаукома, що почалася в дитячому віці | Спадкова глаукома |
| zh | 遗传性青光眼 | = en |
| tr | Kalıtsal glokom | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18174 | E | validated | |
| MeSH | C580055 | E | validated | |
| UMLS | C3711383 | E | validated | |
| GARD | 2486 | 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:522578Rare genetic disorder involving multiple structures of the eye
rare genetic diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:98629OBSOLETE: Rare glaucoma referred to · inactive
- ORPHA:98632OBSOLETE: Glaucoma associated with neural crest cell migration anomaly referred to · inactive
- ORPHA:183604OBSOLETE: Rare genetic glaucoma referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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/359
- This record as JSON: /data/d/359.json