ORPHA:250923
Isolated aniridia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Neonatal
- Status
- active
Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated aniridia | |
| fr | Aniridie isolée | |
| de | Aniridie, isolierte | |
| es | Aniridia aislada | |
| it | Aniridia isolata | |
| nl | Geïsoleerde aniridie | |
| pt | Aniridia isolada | |
| pl | Aniridia izolowana | |
| cs | Izolovaná aniridie | |
| uk | Ізольована аніридія | |
| zh | 孤立性无虹膜畸形 | |
| tr | İzole aniridi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 106210 | E | validated | |
| OMIM | 617141 | BTNT | validated | |
| OMIM | 617142 | BTNT | validated | |
| ICD-10 | Q13.1 | NTBT | attributed | validated |
| ICD-11 | LA11.3 | E | specific | validated |
| MONDO | 0007119 | E | validated | |
| UMLS | C0003076 | E | validated | |
| GARD | 5816 | 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 (3):
- ORPHA:98634Anterior segment developmental anomaly without extraocular manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRIM44 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:19016 | ENSG00000166326 | 612298 | 11p13 | tripartite motif containing 44 | 26394807[PMID] |
| PAX6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8620 | ENSG00000007372 | 607108 | 11p13 | paired box 6 | 20301534[PMID]_9138149[PMID] |
| FOXC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3800 | ENSG00000054598 | 601090 | 6p25.3 | forkhead box C1 | 19279310[PMID]_27124303[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1.31 / 100 000 | Europe | Value and class | Validated | [EXPERT]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 1.38 / 100 000 | Norway | Value and class | Validated | 18494745[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.38 / 100 000 | Sweden | Value and class | Validated | 18494745[PMID] |
| Point prevalence | 1-9 / 100 000 | — | 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.
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HPO phenotypes
27 annotations · validated 2024-09-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000526 | Aniridia | |
| HP:0008059 | Aplasia/Hypoplasia of the macula | |
| HP:0007750 | Hypoplasia of the fovea | |
| HP:0007676 | Hypoplasia of the iris | |
| HP:0000639 | Nystagmus | |
| HP:0007663 | Reduced visual acuity | |
| HP:0000572 | Visual loss | |
| Frequent (79-30%) | ||
| HP:0030622 | Abnormal foveal pit on macular OCT | |
| HP:0030466 | Abnormal full-field electroretinogram | |
| HP:0030468 | Abnormal multifocal electroretinogram | |
| HP:0000518 | Cataract | |
| HP:0011496 | Corneal neovascularization | |
| HP:0007957 | Corneal opacity | |
| HP:0001083 | Ectopia lentis | |
| HP:0000501 | Glaucoma | |
| HP:0007894 | Hypopigmentation of the fundus | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0032107 | Limbal stem cell deficiency | |
| HP:0000659 | Peters anomaly | |
| HP:0000642 | Red-green dyschromatopsia | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0000568 | Microphthalmia | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0000613 | Photophobia | |
| HP:0000508 | Ptosis | |
| Very rare (<4-1%) | ||
| HP:0100719 | Lens coloboma | |
| HP:0030961 | Microspherophakia | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 36375586[PMID]_33675823[PMID]_35791108[PMID]_35791108[PMID]_30100922[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/250923
- This record as JSON: /data/d/250923.json