Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Congenital nephrotic syndrome type 11

Congenital nephrotic syndrome type 11 is an autosomal recessive disorder caused by mutations of the NUP107 gene.

Systematic

Nephrotic syndrome
Congenital nephrotic syndrome type 01 (Finnish type)
Congenital nephrotic syndrome type 02
Congenital nephrotic syndrome type 03
Congenital nephrotic syndrome type 04
Congenital nephrotic syndrome type 05 (Pierson syndrome)
Congenital nephrotic syndrome type 06
Congenital nephrotic syndrome type 07
Congenital nephrotic syndrome type 08
Congenital nephrotic syndrome type 09
Congenital nephrotic syndrome type 10
Congenital nephrotic syndrome type 11
NUP107
Congenital nephrotic syndrome type 12
Congenital nephrotic syndrome type 13
Donnai-Barrow syndrome
GPC5
Glomerulotubular nephropathy
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
Lipoprotein glomerulopathy
Schimke Immunoosseous dysplasia
XPO5

References:

1.

Belgareh N et al. (2001) An evolutionarily conserved NPC subcomplex, which redistributes in part to kinetochores in mammalian cells.

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2.

Boehmer T et al. (2003) Depletion of a single nucleoporin, Nup107, prevents the assembly of a subset of nucleoporins into the nuclear pore complex.

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3.

Zuccolo M et al. (2007) The human Nup107-160 nuclear pore subcomplex contributes to proper kinetochore functions.

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4.

Nagai S et al. (2008) Functional targeting of DNA damage to a nuclear pore-associated SUMO-dependent ubiquitin ligase.

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5.

Zheng X et al. (2012) Loss of zygotic NUP107 protein causes missing of pharyngeal skeleton and other tissue defects with impaired nuclear pore function in zebrafish embryos.

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6.

Miyake N et al. (2015) Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.

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7.

Kitamura A et al. (2006) Genetics and clinical features of 15 Asian families with steroid-resistant nephrotic syndrome.

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8.

OMIM.ORG article

Omim 616730 [^]
Update: April 29, 2019