METAPHYSEAL ANADYSPLASIA 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MANDP2 |
| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
613073
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| ICD-10: |
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| 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 recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0003025) | Metaphyseal irregularity | 19615667 | IBIS | 42 / 7739 | ||
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(HPO:0002979) | Bowing of the legs | 19615667 | IBIS | 28 / 7739 | ||
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(HPO:0003016) | Metaphyseal widening | 41 / 7739 | ||||
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(HPO:0100864) | Short femoral neck | 19615667 | IBIS | 36 / 7739 | ||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Maroteaux et al. (1991) gave the designation metaphyseal anadysplasia (ana = prefix meaning return) to an early-onset regressive form of metaphyseal dysplasia. Diagnosis was possible in the first months when distal metaphyses of long bones were found to ... |
| Molecular genetics OMIM |
In 2 sibs of a nonconsanguineous Pakistani family segregating metaphyseal anadysplasia, Lausch et al. (2009) identified homozygosity for a 21T-A transversion in exon 1 of the MMP9 gene, resulting in a met1-to-lys (M1K; 120361.0005) substitution. In affected members ... |