Amelogenesis Imperfecta, Hypomaturation Type, Iia5 (AI2A5)

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OMIM 57 615887 Disease Ontology 12 DOID:0110063 ICD10 33 K00.5 MedGen 42 C4014578 CN191988

MeSH 44 D000567 SNOMED-CT via HPO 69 258211005 80967001 78494001 UMLS 73 C4014578

OMIM : ⁵⁷ Autosomal recessive amelogenesis imperfecta of the 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 between enamel and dentin (Witkop, 1989). (615887)

MalaCards based summary : Amelogenesis Imperfecta, Hypomaturation Type, Iia5, is also known as ai2a5. An important gene associated with Amelogenesis Imperfecta, Hypomaturation Type, Iia5 is SLC24A4 (Solute Carrier Family 24 Member 4). Related phenotypes are carious teeth and amelogenesis imperfecta

Disease Ontology : ¹² An amelogenesis imperfecta that has material basis in homozygous mutation in the SLC24A4 gene on chromosome 14q32.

UniProtKB/Swiss-Prot : ⁷⁵ Amelogenesis imperfecta, hypomaturation type, 2A5: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.

Clinical features from OMIM:

615887

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

Search GEO for disease gene expression data for Amelogenesis Imperfecta, Hypomaturation Type, Iia5.