Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities (NPHS5)

Alias:
Nephrotic Syndrome Type 5
Nphs5
Nephrotic Syndrome Type 5, with or Without Ocular Abnormalities
Nephrotic Syndrome, Type 5, with/without Ocular Abnormalities
Nephrotic Syndrome 5 with or Without Ocular Abnormalities
Lamb2-Related Infantile-Onset Nephrotic Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities, also known as nephrotic syndrome type 5, is related to pierson syndrome and hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome. An important gene associated with Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities is LAMB2 (Laminin Subunit Beta 2), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include kidney and eye, and related phenotypes are proteinuria and nephrotic syndrome
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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6
43
17

Medical Symptom

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Gene & Mutation

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MGI
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References Literature

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