AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4
General Information (adopted from Orphanet):
| Synonyms, Signs: |
AI2A4 |
| Number of Symptoms | 3 |
| OrphanetNr: | |
| OMIM Id: |
614832
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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:0006285) | Hypomineralization of enamel | 3 / 7739 | ||||
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(HPO:0000705) | Amelogenesis imperfecta | 25 / 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 |
Parry et al. (2012) described 7 members of a consanguineous Omani family (AI-46) with hypomineralized amelogenesis imperfecta. Affected individuals had enamel that was yellowish brown with mild partial developmental enamel hypoplasia. The enamel was prone to rapid functional ... |
| Molecular genetics OMIM |
In 9 families with a hypomaturation form of amelogenesis imperfecta, including the Omani family OI-46, Parry et al. (2012) identified homozygous or compound heterozygous mutatins in the C4ORF26 gene (614829.0001-614829.0005). All of the mutations were predicted to result ... |