Hypoplastic amelogenesis imperfecta
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Amelogenesis imperfecta type 1 |
| Number of Symptoms | 2 |
| OrphanetNr: | 100031 |
| OMIM Id: |
104500
104530 204650 301201 |
| ICD-10: |
K00.5 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
109476006 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive X-linked dominant [Orphanet] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Amelogenesis imperfecta
-Rare genetic disease -Rare odontologic disease |
Symptom Information:
|
|
(HPO:0000705) | Amelogenesis imperfecta | 25 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|