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NPHS22
MCID: NPH114
MIFTS: 15
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Nephrotic Syndrome, Type 22 (NPHS22)
Categories:
Blood diseases, Endocrine diseases, Genetic diseases, Immune diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Nephrotic Syndrome, Type 22:
Name: Nephrotic Syndrome, Type 22
57
6
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy progressive disorder two unrelated patients have been reported (last curated january 2021) Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Nephrological diseases Endocrine diseases Blood diseases Immune diseases |
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OMIM® :
57
Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant (Majmundar et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). (619155) (Updated 05-Mar-2021)
MalaCards based summary : Nephrotic Syndrome, Type 22, is also known as nphs22. An important gene associated with Nephrotic Syndrome, Type 22 is NOS1AP (Nitric Oxide Synthase 1 Adaptor Protein). Affiliated tissues include kidney. |
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:619155 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Nephrotic Syndrome, Type 22:40
Kidney
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Articles related to Nephrotic Syndrome, Type 22:
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Genes related to Nephrotic Syndrome, Type 22 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Nephrotic Syndrome, Type 22:6
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Search
GEO
for disease gene expression data for Nephrotic Syndrome, Type 22.
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