Preferred Label : Amelogenesis imperfecta, type iiia;
Symbol : AI3A;
CISMeF acronym : AI3A;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Amelogenesis imperfecta, hypomineralization type; ADHCAI; Amelogenesis imperfecta, type III; Amelogenesis imperfecta, hypocalcification type, autosomal dominant; AI3;
Description : Hypocalcified amelogenesis imperfecta is characterized by enamel of normal thickness
on newly erupted and unerupted and unresolved teeth. The enamel is soft and may be
lost soon after eruption leaving the crown composed only of dentin. The enamel has
a cheesy consistency and can be scraped from the dentin. An anterior open bite has
been recorded in over 60% of the cases observed. The hypocalcification type is the
most frequent type of enamel dysplasia, occurring in about 1 in 20,000 individuals
(Witkop and Sauk, 1976). Large masses of supragingival calculus become deposited on
the teeth, and this is frequently associated with severe gingivitis or periodontitis
(Winter and Brook, 1975).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the family with sequence similarity 83, member H gene (FAM83H,
611927.0001);
Prefixed ID : #130900;
Origin ID : 130900;
UMLS CUI : C5886770;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
