ORPHA:98978
Axenfeld anomaly
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare, congenital, ocular defect caused by anterior segment dysgenesis and characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Axenfeld anomaly | |
| fr | Anomalie d'Axenfeld | |
| de | Axenfeld-Anomalie | |
| es | Anomalía de Axenfeld | |
| it | Anomalia di Axenfeld | |
| nl | Axenfeld-anomalie | |
| pt | Anomalia de Axenfeld | |
| pl | Anomalia Axenfelda | |
| cs | Axenfeldova anomálie | |
| uk | Аномалія Аксенфельда | |
| zh | Axenfeld异常 | |
| tr | Axenfeld anomalisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601631 | NTBT | validated | |
| OMIM | 602482 | NTBT | validated | |
| ICD-10 | Q15.0 | NTBT | index | validated |
| ICD-11 | LA11.2 | NTBT | index | validated |
| MONDO | 0020368 | E | validated | |
| UMLS | C0266548 | E | validated | |
| MedDRA | 10058653 | 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:98634Anterior segment developmental anomaly without extraocular manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FOXC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3800 | ENSG00000054598 | 601090 | 6p25.3 | forkhead box C1 | 9620769[PMID]_11170889[PMID] |
| PITX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9005 | ENSG00000164093 | 601542 | 4q25 | paired like homeodomain 2 | 19513095[PMID]_24433355[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | Worldwide | Value and class | 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98978
- This record as JSON: /data/d/98978.json