AMELOGENESIS IMPERFECTA, TYPE IH
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
|
|
Number of Symptoms
|
7
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
616221
|
|
ICD-10:
|
|
|
UMLs:
|
|
|
MeSH:
|
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
No data available.
|
|
Inheritance:
|
|
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
No data available.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0009102)
|
Anterior open-bite malocclusion |
|
|
|
|
5 / 7739
|
|
2
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
3
|
(HPO:0006286)
|
Yellow-brown discoloration of the teeth |
|
|
|
|
2 / 7739
|
|
4
|
(HPO:0200095)
|
Anterior open bite |
rare [HPO:skoehler]
|
|
|
|
8 / 7739
|
|
5
|
(HPO:0000705)
|
Amelogenesis imperfecta |
|
|
|
|
25 / 7739
|
|
6
|
(HPO:0009722)
|
Dental enamel pits |
|
|
|
|
5 / 7739
|
|
7
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |