Aniridia-absent patella syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aniridia-absent patella syndrome | |
| fr | Syndrome d'aniridie-rotule absente | |
| de | Aniridie-Patellaaplasie-Syndrom | |
| es | Síndrome de aniridia-ausencia de rótula | |
| it | Sindrome aniridia-agenesia della rotula | |
| nl | Aniridie - afwezige patella-syndroom | |
| pt | Síndrome de aniridia-ausência de rótula | |
| pl | Zespół aniridii i braku rzepki | |
| cs | Syndrom zahrnující aniridii a chybějící patellu | |
| uk | Синдром відсутності надколінка з аніридією | |
| zh | 无虹膜-髌骨缺如综合征 | |
| tr | Aniridi olmayan patella sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 106220 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0007120 | E | validated | |
| MeSH | C566281 | E | validated | |
| UMLS | C1862868 | E | validated | |
| GARD | 685 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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:98557Syndromic aniridia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 1218204[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1218204[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.
HPO phenotypes
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000526 | Aniridia | |
| HP:0006498 | Aplasia/Hypoplasia of the patella | |
| Frequent (79-30%) | ||
| HP:0000518 | Cataract | |
| HP:0000028 | Cryptorchidism | |
| HP:0000501 | Glaucoma | |
| HP:0001252 | Hypotonia | |
| HP:0000023 | Inguinal hernia | |
| HP:0000508 | Ptosis | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1069
- This record as JSON: /data/d/1069.json