AMELOGENESIS IMPERFECTA, TYPE IE

General Information (adopted from Orphanet):

Synonyms, Signs: AMELOGENESIS IMPERFECTA, X-LINKED 1
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1
ENAMEL HYPOPLASIA, X-LINKED
AI1E
AIH1
Number of Symptoms 18
OrphanetNr:
OMIM Id: 301200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000705) Amelogenesis imperfecta 25 / 7739
2
(HPO:0006297) Hypoplasia of dental enamel 64 / 7739
3
(HPO:0200095) Anterior open bite 8 / 7739
4
(HPO:0000691) Microdontia 104 / 7739
5
(HPO:0011073) Abnormality of dental color 24 / 7739
6
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
7
(OMIM) Soft enamel 1 / 7739
8
(HPO:0003812) Phenotypic variability 129 / 7739
9
(OMIM) Hard enamel 1 / 7739
10
(OMIM) Thin enamel 2 / 7739
11
(HPO:0001423) X-linked dominant inheritance 69 / 7739
12
(OMIM) Normal dentin 1 / 7739
13
(OMIM) Rough tooth surface 1 / 7739
14
(OMIM) Vertical ridges on enamel 1 / 7739
15
(OMIM) 'Snow-capped' appearance of teeth 1 / 7739
16
(OMIM) Wide spacing between teeth 1 / 7739
17
(OMIM) Hypomineralized enamel 1 / 7739
18
(OMIM) Enamel pitting 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness ...
Clinical Description OMIM Witkop (1957) was the first to describe a hypomaturation form of AI. In this form, both dentitions are affected. In males, primary teeth are opaque ground-glass white, and secondary teeth are mottled yellow-brown and white. Enamel is of ...
Molecular genetics OMIM By Southern blot analysis, Lagerstrom et al. (1991) demonstrated a deletion extending over 5 kb of the amelogenin gene (300391.0001) in males with the hypomineralization form of amelogenesis imperfecta. Carrier females were heterozygous for the molecular defect which ...