AMELOGENESIS IMPERFECTA, TYPE IC

General Information (adopted from Orphanet):

Synonyms, Signs: AMELOGENESIS IMPERFECTA, HYPOPLASTIC, WITH OR WITHOUT OPENBITE MALOCCLUSION, AUTOSOMAL RECESSIVE
AMELOGENESIS IMPERFECTA, LOCAL HYPOPLASTIC TYPE, AUTOSOMAL RECESSIVE
AI1C
Number of Symptoms 9
OrphanetNr:
OMIM Id: 204650
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0006285) Hypomineralization of enamel 3 / 7739
2
(HPO:0009102) Anterior open-bite malocclusion 5 / 7739
3
(HPO:0006286) Yellow-brown discoloration of the teeth 2 / 7739
4
(HPO:0000705) Amelogenesis imperfecta 25 / 7739
5
(OMIM) Retrognathic mandibular position (some) 1 / 7739
6
(OMIM) Anterior openbite malocclusion (some) 1 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(OMIM) Vertical dysgnathia (some) 1 / 7739
9
(HPO:0001425) Heterogeneous 132 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In the course of an extensive survey, Chosack et al. (1979) found several families with autosomal recessive local hypoplastic amelogenesis imperfecta. Characteristics included horizontal pitting and grooving more pronounced in the middle third of the crowns of most ...
Molecular genetics OMIM In 3 patients with amelogenesis imperfecta and openbite malocclusion, Hart et al. (2003) identified a homozygous 2-bp insertion in the ENAM gene (606585.0003). Further genotyping indicated that all 3 probands shared a common haplotype, suggesting a common ancestor. ...