Patella aplasia/hypoplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PTLAH |
| Number of Symptoms | 5 |
| OrphanetNr: | 86789 |
| OMIM Id: |
168860
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| ICD-10: |
Q74.1 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic limb malformation
-Rare developmental defect during embryogenesis Patellar dysostosis -Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0003065) | Patellar hypoplasia | 8 / 7739 | ||||
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(HPO:0006443) | Patellar aplasia | 14 / 7739 | ||||
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(HPO:0000951) | Abnormality of the skin | 147 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Knee dimple | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Aplasia or hypoplasia of the patella, except as a feature of the nail-patella syndrome (NPS; 161200), is rare. Familial occurrence was reported by Bernhang and Levine (1973) and by Kiss et al. (1976). Braun (1978) reported a father ... |
| Molecular genetics OMIM |
In a family segregating PTLAH mapping to 17q21-q22, Mangino et al. (1999) sequenced the Noggin gene (NOG; 602991) and found no mutations in affected subjects. Bongers et al. (2004) stated that mutations in the TBX4 gene ... |