ORPHA:83461
Congenital primary aphakia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare developmental defect during embryogenesis characterised by an absence of the lens. CPAK can be associated with variable secondary ocular defects.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital primary aphakia | |
| fr | Aphakie primaire congénitale | |
| de | Aphakie, kongenitale primäre | |
| es | Afaquia primaria congénita | |
| it | Afachia congenita primitiva | |
| nl | Congenitale primaire afakie | |
| pt | Afaquia primária congénita | |
| pl | Wrodzona pierwotna afakia | |
| cs | Vrozená primární afakie | |
| uk | Вроджена первинна афакія | |
| zh | 先天性原发性无晶状体 | |
| tr | Doğumsal primer afaki |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610256 | E | validated | |
| ICD-10 | Q12.3 | E | specific | validated |
| ICD-11 | LA12.2 | E | specific | validated |
| MONDO | 0012456 | E | validated | |
| MeSH | C537786 | E | validated | |
| UMLS | C1853230 | E | validated | |
| GARD | 9952 | E | validated | |
| MedDRA | 10002947 | 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 (4):
- ORPHA:98553Developmental defect of the eye
rare developmental anomalies during embryogenesis - ORPHA:183557Genetic developmental defect of the eye
rare genetic diseases - ORPHA:183607Genetic lens and zonula anomaly
rare genetic diseases - ORPHA:98639Rare lens disease
rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FOXE3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3808 | ENSG00000186790 | 601094 | 1p33 | forkhead box E3 | 16826526[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | Europe | 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.
6
HPO phenotypes
13 annotations · validated 2023-08-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008062 | Aplasia/Hypoplasia affecting the anterior segment of the eye | |
| HP:0007707 | Congenital aphakia | |
| HP:0001087 | Developmental glaucoma | |
| HP:0000568 | Microphthalmia | |
| Frequent (79-30%) | ||
| HP:0000504 | Abnormality of vision | |
| HP:0011483 | Anterior synechiae of the anterior chamber | |
| HP:0000588 | Optic disc coloboma | |
| HP:0000541 | Retinal detachment | |
| HP:0007973 | Retinal dysplasia | |
| HP:0000647 | Sclerocornea | |
| Occasional (29-5%) | ||
| HP:0000526 | Aniridia | |
| HP:0100583 | Corneal perforation | |
| HP:0000667 | Phthisis bulbi | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 35051625[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/83461
- This record as JSON: /data/d/83461.json