Amelogenesis Imperfecta, Type Ig (AI1G)

Alias:
Enamel-Renal Syndrome
Amelogenesis Imperfecta Type 1g
Ers
Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome
Enamel-Renal-Gingival Syndrome
Aigfs
Ai1g
Amelogenesis Imperfecta-Nephrocalcinosis Syndrome
Amelogenesis Imperfecta Nephrocalcinosis
Amelogenesis Imperfecta, Hypoplastic, with Nephrocalcinosis
Amelogenesis Imperfecta Hypoplastic with Nephrocalcinosis
Hypoplastic Amelogenesis Imperfecta with Nephrocalcinosis
Amelogenesis Imperfecta Type Ig
Amelogenesis Imperfecta 1g
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Amelogenesis Imperfecta, Type Ig, also known as enamel-renal syndrome, is related to amelogenesis imperfecta hypoplastic type, ig and amelogenesis imperfecta, and has symptoms including polyuria An important gene associated with Amelogenesis Imperfecta, Type Ig is FAM20A (FAM20A Golgi Associated Secretory Pathway Pseudokinase), and among its related pathways/superpathways are Gene expression (Transcription) and GPCR Pathway. Affiliated tissues include kidney and heart, and related phenotypes are gingival overgrowth and nephropathy
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
60
815
17

Medical Symptom

#
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

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
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