KEGG   DISEASE: Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC)
Entry
H00579                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD23  Syndromes with vascular anomalies as a major feature
    H00579  Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04512  ECM-receptor interaction
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04510  Focal adhesion
Gene
COL4A1 [HSA:1282] [KO:K06237]
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
Reference
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
Reference
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
Reference
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

» Japanese version

  All links  
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (4)   
   PubMed (4)   
All databases (7)   

Download RDF
DBGET integrated database retrieval system