AI2A5
MCID: AML062
MIFTS: 20
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Amelogenesis Imperfecta, Hypomaturation Type, Iia5 (AI2A5)
Categories:
Genetic diseases, Oral diseases
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MalaCards integrated aliases for Amelogenesis Imperfecta, Hypomaturation Type, Iia5:
Characteristics:HPO:31Classifications:
ICD10:
32
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OMIM :
56
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). Affiliated tissues include salivary gland, and 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 : 73 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. |
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Human phenotypes related to Amelogenesis Imperfecta, Hypomaturation Type, Iia5:31
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MalaCards organs/tissues related to Amelogenesis Imperfecta, Hypomaturation Type, Iia5:40
Salivary Gland
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Articles related to Amelogenesis Imperfecta, Hypomaturation Type, Iia5:
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ClinVar genetic disease variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia5:6
UniProtKB/Swiss-Prot genetic disease variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia5:73
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Search
GEO
for disease gene expression data for Amelogenesis Imperfecta, Hypomaturation Type, Iia5.
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