KEGG   DISEASE: アルポート症候群
エントリ  
H00581                                                             
名称    
アルポート症候群
概要    
Alport syndrome (ATS) is a hereditary hematuric nephropathy with frequent hearing loss and ocular anomalies. Defects of basement membranes arise from mutations in alpha 3, alpha 4, and alpha 5 type IV collagen chains. The mode of inheritance is either X-linked or autosomal recessive, although autosomal dominant form has been observed in a few families. Male patients with X-linked Alport syndrome suffer from severe renal symptoms that progress to end-stage renal disease associated with deafness which starts during the first decade of life, and ocular lesions including anterior lenticonus. Autosomal recessive Alport syndrome is usually severe, showing progressive nephritis and hearing impairment.
カテゴリ  
先天奇形
階層分類  
ヒト疾患 [BR:jp08402]
 先天奇形
  その他の先天奇形
   H00581  アルポート症候群
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD2H  症候群性遺伝性難聴
    H00581  アルポート症候群
指定難病 [jp08407.html]
 H00581
関連パスウェイ
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04151  PI3K-Akt signaling pathway
病因遺伝子 
(ATS1) COL4A5 [HSA:1287] [KO:K06237]
(ATS2) COL4A4 [HSA:1286] [KO:K06237]
(ATS2_3) COL4A3 [HSA:1285] [KO:K06237]
リンク   
ICD-11: LD2H.Y
ICD-10: Q87.8
MeSH: D009394
OMIM: 301050 203780 104200
文献    
  著者
Kashtan CE, Segal Y
  タイトル
Genetic disorders of glomerular basement membranes.
  雑誌
Nephron Clin Pract 118:c9-c18 (2011)
DOI:10.1159/000320876
文献    
  著者
Heidet L, Gubler MC
  タイトル
The renal lesions of Alport syndrome.
  雑誌
J Am Soc Nephrol 20:1210-5 (2009)
DOI:10.1681/ASN.2008090984
文献    
PMID:20378821 (ATS1)
  著者
Bekheirnia MR, Reed B, Gregory MC, McFann K, Shamshirsaz AA, Masoumi A, Schrier RW
  タイトル
Genotype-phenotype correlation in X-linked Alport syndrome.
  雑誌
J Am Soc Nephrol 21:876-83 (2010)
DOI:10.1681/ASN.2009070784
文献    
PMID:24052634 (ATS2)
  著者
Storey H, Savige J, Sivakumar V, Abbs S, Flinter FA
  タイトル
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
  雑誌
J Am Soc Nephrol 24:1945-54 (2013)
DOI:10.1681/ASN.2012100985
文献    
PMID:11044206 (ATS3)
  著者
van der Loop FT, Heidet L, Timmer ED, van den Bosch BJ, Leinonen A, Antignac C, Jefferson JA, Maxwell AP, Monnens LA, Schroder CH, Smeets HJ
  タイトル
Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.
  雑誌
Kidney Int 58:1870-5 (2000)
DOI:10.1111/j.1523-1755.2000.00358.x
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