Nephrotic Syndrome, Type 20 (NPHS20)

Alias:
Nephrotic Syndrome Type 20
Nphs20
Nephrotic Syndrome 20
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nephrotic Syndrome, Type 20, also known as nephrotic syndrome type 20, is related to syndromic x-linked intellectual disability lubs type and cardiomyopathy, dilated, with hypergonadotropic hypogonadism. An important gene associated with Nephrotic Syndrome, Type 20 is TBC1D8B (TBC1 Domain Family Member 8B), and among its related pathways/superpathways are Metapathway biotransformation Phase I and II and Nuclear receptors meta-pathway. Affiliated tissues include kidney and endothelial, and related phenotypes are proteinuria and steroid-resistant nephrotic syndrome
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
XL
XLR
Unknown
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10
20
2

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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CAS Number
Status
Phase
No data available

Disease Model

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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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