AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3

General Information (adopted from Orphanet):

Synonyms, Signs: AI2A3
Number of Symptoms 3
OrphanetNr:
OMIM Id: 613211
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:0000705) Amelogenesis imperfecta 25 / 7739
2
(HPO:0011085) Hypomature dental enamel 1 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM El-Sayed et al. (2009) studied 10 families with autosomal recessive hypomaturation amelogenesis imperfecta originating from Pakistan or Oman. The largest pedigree was Pakistani and had generalized AI with involvement of the primary and secondary dentitions. Radiographic appearance prior ...
Molecular genetics OMIM In a large Pakistani family segregating autosomal recessive amelogenesis imperfecta mapping to chromosome 15q21.3, El-Sayed et al. (2009) sequenced 16 candidate genes and identified a nonsense mutation in the WDR72 gene (613214.0001). Analysis of the WDR72 gene in ...