Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nephronophthisis 02

Infantile nephronophthisis is an autosomal recessive disease characterized by medullary renal cysts and severe renal failure within the first month of life, often accompanied by situs inversus.

Systematic

Nephronophthisis
Nephronophthisis 01
Nephronophthisis 02
INVS
Nephronophthisis 03
Nephronophthisis 04
Nephronophthisis 05
Nephronophthisis 06
Nephronophthisis 07
Nephronophthisis 08
Nephronophthisis 09
Nephronophthisis 10
Nephronophthisis 11
Nephronophthisis 12
Nephronophthisis 13
Nephronophthisis 14
Nephronophthisis 15
Nephronophthisis 16
Nephronophthisis 17
Nephronophthisis 18
Nephronophthisis 19
Nephronophthisis 20
Nephronophthisis-like nephropathy 1

References:

1.

Otto EA et al. (2003) Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.

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2.

O'Toole JF et al. (2007) Mutational analysis in 119 families with nephronophthisis.

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3.

Gagnadoux MF et al. (1989) Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?

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4.

Haider NB et al. (1998) A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping.

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5.

OMIM.ORG article

Omim 602088 [^]
6.

Orphanet article

Orphanet ID 93591 [^]
Update: April 29, 2019