Amelogenesis Imperfecta, Type Iv (AI4)

Alias:
Hypomaturation-Hypoplastic Amelogenesis Imperfecta with Taurodontism
Amelogenesis Imperfecta Type 4
Aihht
Ai4
Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism
Amelogenesis Imperfecta Hypomaturation-Hypoplastic Type with Taurodontism
Amelogenesis Imperfecta 2 Hypocalcification Type
Amelogenesis Imperfecta Hypomineralization Type
Amelogenesis Imperfecta with Taurodontism
Amelogenesis Imperfecta Type Iv
Amelogenesis Imperfecta 4
Ait
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Amelogenesis Imperfecta, Type Iv, also known as hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, is related to amelogenesis imperfecta, hypomaturation type, iia2 and amelogenesis imperfecta, type iiia. An important gene associated with Amelogenesis Imperfecta, Type Iv is DLX3 (Distal-Less Homeobox 3), and among its related pathways/superpathways is Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). Related phenotypes are yellow-brown discoloration of the teeth and enamel hypoplasia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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11
61
8

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
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References Literature

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