ORPHA:86789
Isolated patella aplasia/hypoplasia
Synonyms: PTLAH
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated patella aplasia/hypoplasia | PTLAH |
| fr | Aplasie/hypoplasie de la rotule isolée | Aplasie/hypoplasie patellaire isolée |
| de | Patella-Aplasie/Hypoplasie, isolierte | Familiäre Aplasie oder Hypoplasie der Patella · PTLAH |
| es | Aplasia/hipoplasia aislada de rótula | = en |
| it | Aplasia/ipoplasia isolata della rotula | = en |
| nl | Geïsoleerde aplasie/hypoplasie van patella | Geïsoleerde aplasie/hypoplasie van knieschijf · PTLAH |
| pt | Aplasia-hipoplasia isolada da rótula | = en |
| pl | Izolowana aplazja/hipoplazja rzepki | = en |
| cs | Aplázie/hypoplázie patelly | = en |
| uk | Ізольована аплазія/гіпоплазія надколінка | = en |
| zh | 髌骨不发育/发育不全 | = en |
| tr | Patella aplazisi / hipoplazi | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 168860 | E | validated | |
| ICD-10 | Q74.1 | NTBT | inclusion | validated |
| ICD-11 | LB95 | E | specific | validated |
| MONDO | 0008205 | E | validated | |
| MeSH | C535568 | E | validated | |
| UMLS | C1868577 | E | validated | |
| GARD | 8709 | 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 (2):
- ORPHA:109011Non-syndromic limb malformation
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:93455Patellar dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:295038OBSOLETE: Patella aplasia/hypoplasia, unilateral referred to · inactive
- ORPHA:295041OBSOLETE: Patella aplasia/hypoplasia, bilateral referred to · inactive
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11857555[PMID] |
| Cases/families | 5 families | Worldwide | Family(ies) | Validated | 11857555[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.
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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/86789
- This record as JSON: /data/d/86789.json