Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Congenital nephrotic syndrome type 03

Hereditary nephrotic syndrome type 3 is an autosomal recessive disorder which presents in early childhood by steroid-resistant nephrotic syndrome and histomorphological findings consistent with mesangial sclerosis or focal and segmental glomerulosclerosis.

Systematic

Nephrotic syndrome
Congenital nephrotic syndrome type 01 (Finnish type)
Congenital nephrotic syndrome type 02
Congenital nephrotic syndrome type 03
PLCE1
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
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
Lipoprotein glomerulopathy
Schimke Immunoosseous dysplasia
XPO5

References:

1.

Hinkes B et al. (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.

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2.

Morgan AR et al. (2007) Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease.

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3.

Jefferson JA et al. (2007) Familial nephrotic syndrome: PLCE1 enters the fray.

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4.

Copelovitch L et al. (2007) Renin-angiotensin axis blockade reduces proteinuria in presymptomatic patients with familial FSGS.

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5.

Chaib H et al. (2008) Identification of BRAF as a new interactor of PLCepsilon1, the protein mutated in nephrotic syndrome type 3.

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6.

Gbadegesin R et al. (2008) Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).

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7.

None (2008) NPHS3: new clues for understanding idiopathic nephrotic syndrome.

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8.

Löwik M et al. (2008) Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis.

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9.

OMIM.ORG article

Omim 610725 [^]
Update: April 29, 2019