ORPHA:2085
Glaucoma-sleep apnea syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- No data available
- Status
- active
Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glaucoma-sleep apnea syndrome | |
| fr | Syndrome de glaucome-apnée du sommeil | |
| de | Glaukom-Schlafapnoe-Syndrom | |
| es | Síndrome de glaucoma-apnea del sueño | |
| it | Sindrome glaucoma-apnea | |
| nl | Glaucoom - slaapapneu-syndroom | |
| pt | Síndrome de glaucoma-apneia do sono | |
| pl | Jaskra - bezdech senny | |
| cs | Syndrom zahrnující glaukom a spánkovou apnoe | |
| uk | Синдромї апное сну та глаукоми | |
| zh | 青光眼-睡眠呼吸暂停综合征 | |
| tr | Glokom-uyku apnesi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 137763 | E | validated | |
| ICD-10 | H40.8 | NTBT | attributed | validated |
| ICD-11 | 9C6Y | NTBT | attributed | validated |
| MONDO | 0007666 | E | validated | |
| UMLS | C4304308 | E | validated | |
| GARD | 2483 | 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:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:68354Rare sleep disorder
rare neurological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 7164003[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7164003[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
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000501 | Glaucoma | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0010535 | Sleep apnea | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2085
- This record as JSON: /data/d/2085.json