Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Glomerulotubular nephropathy

Glomerulotubular nephropathy is an autosomal recessive steroid resistant nephrotic syndrome caused by FAT1 mutations. Proteinuria is accompanied by hematuria and tubular ectasia while neurological involvement is facultative.

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
Congenital nephrotic syndrome type 12
Congenital nephrotic syndrome type 13
Donnai-Barrow syndrome
GPC5
Glomerulotubular nephropathy
FAT1
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
Lipoprotein glomerulopathy
Schimke Immunoosseous dysplasia
XPO5

References:

1.

Hortsch M et al. (1991) Cell and substrate adhesion molecules in Drosophila.

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2.

Mahoney PA et al. (1991) The fat tumor suppressor gene in Drosophila encodes a novel member of the cadherin gene superfamily.

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3.

Bryant PJ et al. (1988) Mutations at the fat locus interfere with cell proliferation control and epithelial morphogenesis in Drosophila.

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4.

Dunne J et al. (1995) Molecular cloning and tissue expression of FAT, the human homologue of the Drosophila fat gene that is located on chromosome 4q34-q35 and encodes a putative adhesion molecule.

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5.

Katoh Y et al. (2006) Comparative integromics on FAT1, FAT2, FAT3 and FAT4.

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6.

Ishikawa HO et al. (2008) Four-jointed is a Golgi kinase that phosphorylates a subset of cadherin domains.

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7.

Morris LG et al. (2013) Recurrent somatic mutation of FAT1 in multiple human cancers leads to aberrant Wnt activation.

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8.

Gee HY et al. (2016) FAT1 mutations cause a glomerulotubular nephropathy.

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9.

OMIM.ORG article

Omim 600976 [^]
Update: April 29, 2019