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
	Congenital nephrotic syndrome type 14
	Congenital nephrotic syndrome type 15
	Congenital nephrotic syndrome type 16
	Congenital nephrotic syndrome type 17
	Congenital nephrotic syndrome type 18
	Congenital nephrotic syndrome type 19
	Congenital nephrotic syndrome type 20
	Congenital nephrotic syndrome type 21
	Congenital nephrotic syndrome type 22
	Congenital nephrotic syndrome type 23
	Congenital nephrotic syndrome type 24
	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.

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

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

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.

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

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

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

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

9.	OMIM.ORG article Omim 600976

Update: June 23, 2025

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