Amelogenesis Imperfecta, Type Iiia (AI3A)

Alias:
Amelogenesis Imperfecta Type 3
Adhcai
Amelogenesis Imperfecta Hypomineralization Type
Hypocalcified Amelogenesis Imperfecta
Amelogenesis Imperfecta, Type Iii
Amelogenesis Imperfecta Type Iii
Amelogenesis Imperfecta Type 3a
Amelogenesis Imperfecta, Type 3
Ai3a
Ai3
Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant
Autosomal Dominant Amelogenesis Imperfecta Hypocalcification Type
Amelogenesis Imperfecta Hypocalcification Type Autosomal Dominant
Amelogenesis Imperfecta, Hypomineralization Type
Amelogenesis Imperfecta, Hypocalcification Type
Amelogenesis Imperfecta 3a
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Amelogenesis Imperfecta, Type Iiia, also known as amelogenesis imperfecta type 3, is related to amelogenesis imperfecta, type iiic and amelogenesis imperfecta, type iv. An important gene associated with Amelogenesis Imperfecta, Type Iiia is FAM83H (Family With Sequence Similarity 83 Member H), 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). Affiliated tissues include bone, and related phenotypes are dental malocclusion and amelogenesis imperfecta
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Unknown
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28
160
12

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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