ORPHA:98977
Juvenile glaucoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare primary early-onset glaucoma characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Juvenile glaucoma | |
| fr | Glaucome juvénile | |
| de | Glaukom, juveniles | |
| es | Glaucoma juvenil | |
| it | Glaucoma giovanile | |
| nl | Juveniel glaucoom | |
| pt | Glaucoma juvenil | |
| pl | Jaskra młodzieńcza | |
| cs | Juvenilní glaukom | |
| uk | Ювенільна глаукома | |
| zh | 青少年型青光眼 | |
| tr | Jüvenil glokom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 137750 | BTNT | validated | |
| OMIM | 231300 | NTBT | validated | |
| OMIM | 608695 | BTNT | validated | |
| OMIM | 608696 | BTNT | validated | |
| OMIM | 610535 | BTNT | validated | |
| OMIM | 611274 | BTNT | validated | |
| ICD-10 | H40.1 | NTBT | attributed | validated |
| ICD-11 | 9C61.41 | NTBT | index | validated |
| MONDO | 0020367 | E | validated | |
| UMLS | C2981140 | E | validated | |
| MedDRA | 10064032 | 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:156005Primary early-onset glaucoma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EFEMP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3218 | ENSG00000115380 | 601548 | 2p16.1 | EGF-like fibulin extracellular matrix protein 1 | 34923728[PMID] |
| MYOC | Disease-causing germline mutation(s) in | Assessed | HGNC:7610 | ENSG00000034971 | 601652 | 1q24.3 | myocilin | 21730848[PMID] |
| CYP1B1 | Major susceptibility factor in | Assessed | HGNC:2597 | ENSG00000138061 | 601771 | 2p22.2 | cytochrome P450 family 1 subfamily B member 1 | 19643970[PMID]_22878448[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | United States | Value and class | Validated | 18214788[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.
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HPO phenotypes
15 annotations · validated 2019-06-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000593 | Abnormal anterior chamber morphology | |
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0000525 | Abnormality iris morphology | |
| HP:0007854 | Glaucomatous visual field defect | |
| HP:0007906 | Ocular hypertension | |
| HP:0012108 | Open angle glaucoma | |
| HP:0001138 | Optic neuropathy | |
| HP:0007994 | Peripheral visual field loss | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0011003 | High myopia | |
| HP:0012796 | Increased cup-to-disc ratio | |
| HP:0012511 | Temporal optic disc pallor | |
| Very rare (<4-1%) | ||
| HP:0000603 | Central scotoma | |
| HP:0025326 | Retinal arterial occlusion | |
| HP:0012636 | Retinal vein occlusion | |
Annotation source: 21911678[PMID]_23358655[PMID]_28910179[PMID]_30855805[PMID]_27050345[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98977
- This record as JSON: /data/d/98977.json