AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2

General Information (adopted from Orphanet):

Synonyms, Signs: AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 2
AI2A2
Number of Symptoms 3
OrphanetNr:
OMIM Id: 612529
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0200095) Anterior open bite rare [HPO:skoehler] 8 / 7739
2
(HPO:0000705) Amelogenesis imperfecta 25 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast ...
Clinical Description OMIM Kim et al. (2005) reported a family in which 2 members had autosomal recessive pigmented hypomaturation AI. The enamel layer of the teeth was pigmented, showing an agar brown discoloration. The surface of the enamel was mottled and ...
Molecular genetics OMIM In both affected members of a family segregating pigmented hypomaturation AI, Kim et al. (2005) identified homozygosity for a splice site mutation in the MMP20 gene (604629.0001).