H00579 | |
H number | H00579 |
Name | Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) |
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. |
Category | Congenital malformation |
Network | - |
Gene | COL4A1 [HSA:1282] [KO:K06237] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD23 ICD-10: I99 MeSH: C567088 OMIM: 611773 |
Reference | PMID:18094725 AUTHORS Gubler MC TITLE Inherited diseases of the glomerular basement membrane. JOURNAL Nat Clin Pract Nephrol 4:24-37 (2008) DOI:10.1038/ncpneph0671 PMID:21071975 AUTHORS Kashtan CE, Segal Y TITLE Genetic disorders of glomerular basement membranes. JOURNAL Nephron Clin Pract 118:c9-c18 (2011) DOI:10.1159/000320876 PMID:18160688 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 TITLE COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. JOURNAL N Engl J Med 357:2687-95 (2007) DOI:10.1056/NEJMoa071906 PMID:20818663 AUTHORS Plaisier E, Chen Z, Gekeler F, Benhassine S, Dahan K, Marro B, Alamowitch S, Paques M, Ronco P TITLE Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain. JOURNAL Am J Med Genet A 152A:2550-5 (2010) DOI:10.1002/ajmg.a.33659 |