Nephronophthisis 2
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
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Nephronophthisis 1
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Nephronophthisis 2
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INVS
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Nephronophthisis 3
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Nephronophthisis 4
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Nephronophthisis 5
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Nephronophthisis 6
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Nephronophthisis 9
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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. [^] |
| 2. |
O'Toole JF et al. (2007) Mutational analysis in 119 families with nephronophthisis. [^] |
| 3. |
Gagnadoux MF et al. (1989) Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity? [^] |
| 4. |
Haider NB et al. (1998) A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping. [^] |
