ORPHA:98976
Congenital glaucoma
Synonyms: Buphthalmia · Buphthalmos · Buphthalmus · Primary congenital glaucoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare ophthalmic disorder characterized by an elevated intra-ocular pressure. The clinical presentation frequently associates an increase in the size of the eye, as well as corneal edema.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital glaucoma | Buphthalmia · Buphthalmos · Buphthalmus · Primary congenital glaucoma |
| fr | Glaucome congénital | Buphtalmie · Glaucome congénital primaire · Glaucome congénital primitif |
| de | Glaukom, kongenitales | Buphthalmie · Buphthalmus · Primäres kongenitales Glaukom |
| es | Glaucoma congénito | Buftalmia · Buftalmos · Glaucoma congénito primario |
| it | Glaucoma congenito | Buftalmo · Glaucoma congenito primitivo |
| nl | Congenitaal glaucoom | Buftalmie · Buphthalmos · Primair congenitaal glaucoom |
| pt | Glaucoma congénito | |
| pl | Jaskra wrodzona | Pierwotna jaskra wrodzona · Woloocze |
| cs | Vrozený glaukom | Buftalmie · Buftalmos · Buftalmus · Primární vrozený glaukom |
| uk | Вроджена глаукома | Буфтальмія · Буфтальмос · Буфтальм · Первинна вроджена глаукома |
| zh | 先天性青光眼 | 原发性先天性青光眼 |
| tr | Doğumsal glokom | Buftalmi · Buftalmi · Buftalmus · Primer doğumsal glokom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 231300 | E | validated | |
| OMIM | 600975 | BTNT | validated | |
| OMIM | 613085 | BTNT | validated | |
| OMIM | 613086 | BTNT | validated | |
| OMIM | 617272 | BTNT | validated | |
| ICD-10 | Q15.0 | E | specific | validated |
| ICD-11 | 9C61.40 | E | specific | validated |
| UMLS | C0020302 | E | validated | |
| GARD | 2485 | 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 (1):
- ORPHA:156005Primary early-onset glaucoma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:98941OBSOLETE: Von Hippel anomaly referred to · inactive
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TEK | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11724 | ENSG00000120156 | 600221 | 9p21.2 | TEK receptor tyrosine kinase | 27270174[PMID] |
| CYP1B1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2597 | ENSG00000138061 | 601771 | 2p22.2 | cytochrome P450 family 1 subfamily B member 1 | 21730848[PMID] |
| LTBP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6715 | ENSG00000119681 | 602091 | 14q24.3 | latent transforming growth factor beta binding protein 2 | 19361779[PMID] |
| MYOC | Disease-causing germline mutation(s) in | Assessed | HGNC:7610 | ENSG00000034971 | 601652 | 1q24.3 | myocilin | 21730848[PMID]_15733270[PMID]_21168818[PMID] |
5
Prevalence and incidence
18 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.2 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.9 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 6.6 / 100 000 | France | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2000-2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.8 / 100 000 | Malta | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3.6 / 100 000 | Italy | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.6 / 100 000 | Netherlands | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.8 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.9 / 100 000 | Portugal | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 6.5 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.2 / 100 000 | United Kingdom | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3 / 100 000 | Ukraine | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2000-2004[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1.5 / 100 000 | Switzerland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.4 / 100 000 | Poland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 4.1 / 100 000 | Ireland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 4.1 / 100 000 | Germany | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.8 / 100 000 | Croatia | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3.4 / 100 000 | Austria | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2000-2016[OTHER] |
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
19 annotations · validated 2024-09-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012040 | Corneal stromal edema | |
| HP:0000501 | Glaucoma | |
| Frequent (79-30%) | ||
| HP:0011490 | Abnormal Descemet membrane morphology | |
| HP:0000643 | Blepharospasm | |
| HP:0000557 | Buphthalmos | |
| HP:0007957 | Corneal opacity | |
| HP:0007765 | Deep anterior chamber | |
| HP:0009926 | Epiphora | |
| HP:0001089 | Iris atrophy | |
| HP:0000485 | Megalocornea | |
| HP:0007906 | Ocular hypertension | |
| HP:0000613 | Photophobia | |
| HP:0025751 | Reduced anterior scleral thickness | |
| Occasional (29-5%) | ||
| HP:0000646 | Amblyopia | |
| HP:0012803 | Anisometropia | |
| HP:0100693 | Iridodonesis | |
| HP:0000545 | Myopia | |
| HP:0007663 | Reduced visual acuity | |
| HP:0000572 | Visual loss | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20301314[PMID]_31920449[PMID]_34662067[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98976
- This record as JSON: /data/d/98976.json