KEGG   DISEASE: H00579Help
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
Kidney disease
Brite
Human diseases [BR:br08402]
 Urinary system diseases
  Kidney diseases
   H00579  Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC)
Human diseases in ICD-10 classification [BR:br08403]
 7. Diseases of the eye and adnexa (H00-H59)
  H30-H36  Disorders of choroid and retina
   H35  Other retinal disorders
    H00579  Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC)
 18. Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified (R00-R99)
  R40-R46  Symptoms and signs involving cognition, perception, emotional state and behaviour
   R31  Unspecified haematuria
    H00579  Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC)
BRITE hierarchy
Pathway
Focal adhesion
ECM-receptor interaction
Gene
COL4A1 [HSA:1282] [KO:K06237]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:18094725 (description, gene)
  Authors
Gubler MC
  Title
Inherited diseases of the glomerular basement membrane.
  Journal
Nat Clin Pract Nephrol 4:24-37 (2008)
Reference
PMID:21071975 (description, gene)
  Authors
Kashtan CE, Segal Y
  Title
Genetic disorders of glomerular basement membranes.
  Journal
Nephron Clin Pract 118:c9-c18 (2011)
Reference
PMID:18160688 (gene)
  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)
Reference
PMID:20818663 (gene)
  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)

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