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Entry Name Description Category Pathway Gene
H00579 Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) ... 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 ... Congenital malformation COL4A1 [HSA:1282] [KO:K06237]
H00839 Porencephaly Porencephaly is a rare disease of central nervous system characterized by the existence of degenerative cavities filled with cerebrospinal fluid in the brain. It is probably caused by perinatal intracerebral ... Congenital malformation COL4A1 [HSA:1282] [KO:K06237]
COL4A2 [HSA:1284] [KO:K06237]
H00877 Brain small vessel disease ... young age of onset. To date, several genes have been associated with hereditary BSVD. Mutations in the COL4A1 gene, encoding the a1 chain of type IV collagen, cause brain small vessel disease with hemorrhage ... Cardiovascular disease (BSVD1) COL4A1 [HSA:1282] [KO:K06237]
(BSVD2) COL4A2 [HSA:1284] [KO:K06237]
(BSVD3) COLGALT1 [HSA:79709] [KO:K11703]
H02718 Autosomal dominant pontine microangiopathy and leukoencephalopathy ... disease characterized by multiple small infarctions in the pons. Mutations causing overproduction of COL4A1, encoding collagen type IV alpha 1 chain, have been identified in patients with this disease. ... Congenital malformation COL4A1 [HSA:1282] [KO:K06237]
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