| Entry |
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| Name |
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC)
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| Description |
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) is a syndrome that is linked to the missense mutations in the COL4A1 in basement membranes. The renal manifestations include hematuria and bilateral renal cysts. In affected individuals, retinal arteriolar tortuosity and intracranial aneurysms are commonly observed.
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| Category |
Kidney disease
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| Pathway |
| Focal adhesion | | ECM-receptor interaction |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Gubler MC |
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| Title |
Inherited diseases of the glomerular basement membrane. |
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| Journal |
Nat Clin Pract Nephrol 4:24-37 (2008) |
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| Reference |
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| Authors |
Kashtan CE, Segal Y |
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| Title |
Genetic disorders of glomerular basement membranes. |
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| Journal |
Nephron Clin Pract 118:c9-c18 (2011) |
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| Reference |
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| Authors |
Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, Marro B, Desmettre T, Cohen SY, Roullet E, Dracon M, Fardeau M, Van Agtmael T, Kerjaschki D, Antignac C, Ronco P |
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| Title |
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. |
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| Journal |
N Engl J Med 357:2687-95 (2007) |
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| Reference |
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| Authors |
Plaisier E, Chen Z, Gekeler F, Benhassine S, Dahan K, Marro B, Alamowitch S, Paques M, Ronco P |
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| Title |
Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain. |
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| Journal |
Am J Med Genet A 152A:2550-5 (2010) |
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