AMELOGENESIS IMPERFECTA, TYPE IB

General Information (adopted from Orphanet):

Synonyms, Signs: AMELOGENESIS IMPERFECTA, HYPOPLASTIC LOCAL, AUTOSOMAL DOMINANT
ENAMEL HYPOPLASIA, HEREDITARY LOCALIZED
AI1B
AIH2
Number of Symptoms 3
OrphanetNr:
OMIM Id: 104500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (OMIM) Incisal edge or occlusal surface not usually involved 1 / 7739
2
 (OMIM) Enamel has horizontal row of pits or linear depressions 1 / 7739
3
 (OMIM) Amelogenesis imperfecta, hypoplastic 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Weinmann et al. (1945) made the useful division of enamel defects into 2 classes: (1) hereditary enamel hypoplasia, in which the enamel is hard but deficient in quantity, and (2) hereditary enamel hypocalcification, in which the enamel is ...
Molecular genetics OMIM In a 3-generation family with autosomal dominant hypoplastic local amelogenesis imperfecta, Rajpar et al. (2001) identified a G-to-A transition in the splice donor site following exon 7 of the enamelin gene (606585.0001).

In affected members of ...