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Nephronophthisis 2
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Nephronophthisis 2

Clinical feature: 

Definition: 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 link table: 

Medullary cystic disease complex
Medullary cystic kidney disease 2
UMOD
Nephronophthisis
Nephronophthisis 2
INVS

Literature: 

O'Toole JF et al. (2007) Mutational analysis in 119 families with nephronophthisis.
Gagnadoux MF et al. (1989) Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?
Haider NB et al. (1998) A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping.
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.