Amelogenesis Imperfecta, Hypomaturation Type, Iia1 (AI2A1)

Alias:
Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 1
Amelogenesis Imperfecta, Type Iia1
Ai2a1
Amelogenesis Imperfecta Pigmented Hypomaturation Type 1
Amelogenesis Imperfecta, Hypomaturation Type, 2a1
Amelogenesis Imperfecta 2 Hypocalcification Type
Amelogenesis Imperfecta Hypomineralization Type
Amelogenesis Imperfecta Type 2a1
Aiph
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Amelogenesis Imperfecta, Hypomaturation Type, Iia1, also known as amelogenesis imperfecta, pigmented hypomaturation type, 1, is related to amelogenesis imperfecta, type iiia and amelogenesis imperfecta type 2a1. An important gene associated with Amelogenesis Imperfecta, Hypomaturation Type, Iia1 is KLK4 (Kallikrein Related Peptidase 4). Affiliated tissues include breast and prostate, and related phenotypes are yellow-brown discoloration of the teeth and amelogenesis imperfecta
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
5
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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Score
Mutations
No data available

Related Drugs

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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
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IF
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