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NPHS11
MCID: NPH095
MIFTS: 22
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Nephrotic Syndrome, Type 11 (NPHS11)
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 11:
Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
variable severity progressive disorder not responsive to steroid treatment onset of renal disease in first decade most patients require renal transplantation no recurrence of nephrotic syndrome after transplantation some patients may have extrarenal involvement with microcephaly and delayed development or mildly impaired intellectual development HPO:33
nephrotic syndrome, type 11:
Onset and clinical course variable expressivity progressive Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Nephrological diseases Immune diseases Blood diseases Endocrine diseases |
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UniProtKB/Swiss-Prot
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76
Nephrotic syndrome 11: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS11 is an autosomal recessive, steroid-resistant and progressive form with onset in the first decade of life.
MalaCards based summary : Nephrotic Syndrome, Type 11, is also known as nphs11. An important gene associated with Nephrotic Syndrome, Type 11 is NUP107 (Nucleoporin 107). Affiliated tissues include kidney, and related phenotypes are focal segmental glomerulosclerosis and proteinuria Disease Ontology : 12 A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has material basis in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15. OMIM : 58 Nephrotic syndrome type 11 is an autosomal recessive disorder of the kidney with onset in the first decade of life. The disorder is progressive and usually results in end-stage renal disease necessitating renal transplantation, although some patients may have a slightly milder phenotype (summary by Miyake et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). (616730) |
Human phenotypes related to Nephrotic Syndrome, Type 11:33 (show all 6)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:616730 |
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MalaCards organs/tissues related to Nephrotic Syndrome, Type 11:42
Kidney
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Genes related to Nephrotic Syndrome, Type 11 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 11:76
ClinVar genetic disease variations for Nephrotic Syndrome, Type 11:6
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Search
GEO
for disease gene expression data for Nephrotic Syndrome, Type 11.
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