Alport Syndrome 2, Autosomal Recessive (ATS2)

Alias:
Ats2
Alport Syndrome, Autosomal Recessive
Autosomal Recessive Alport Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Alport Syndrome 2, Autosomal Recessive, also known as ats2, is related to alport syndrome 3b, autosomal recessive and autosomal recessive alport syndrome. An important gene associated with Alport Syndrome 2, Autosomal Recessive is COL4A4 (Collagen Type IV Alpha 4 Chain), and among its related pathways/superpathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Non-integrin membrane-ECM interactions. Affiliated tissues include eye and kidney, and related phenotypes are hypertension and hearing impairment
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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2
19
79

Medical Symptom

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Description
HPO Frequency
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Gene & Mutation

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Disease Model

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MGI
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References Literature

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