KEGG   DISEASE: H00575Help
Entry
H00575                      Disease                                

Name
Renal tubular dysgenesis
Description
Autosomal recessive renal tubular dysgenesis (RTD) is a rare lethal disorder characterized by the absence or incomplete differentiation of proximal tubules. Patients present persistent fetal anuria leading to oligohydramnios sequence. Homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1 may cause RTD. These genes are renin-angiotensin system components which regulate renal growth during embryogenesis.
Category
Developmental disorder; Kidney disease
BRITE hierarchy
Pathway
Renin-angiotensin system
Gene
REN [HSA:5972] [KO:K01380]
AGT [HSA:183] [KO:K09821]
ACE [HSA:1636] [KO:K01283]
AGTR1 [HSA:185] [KO:K04166]
Other DBs
MeSH: 
OMIM: 
Reference
PMID:20969579 (description, gene)
  Authors
Benoit G, Machuca E, Heidet L, Antignac C
  Title
Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.
  Journal
Ann N Y Acad Sci 1214:83-98 (2010)
Reference
PMID:19924102 (description, gene)
  Authors
Gubler MC, Antignac C
  Title
Renin-angiotensin system in kidney development: renal tubular dysgenesis.
  Journal
Kidney Int 77:400-6 (2010)
Reference
PMID:16116425 (gene)
  Authors
Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC
  Title
Mutations in genes in the renin-angiotensin system are associated with autosomal  recessive renal tubular dysgenesis.
  Journal
Nat Genet 37:964-8 (2005)
Reference
PMID:8023970 (description)
  Authors
Tufro-McReddie A, Johns DW, Geary KM, Dagli H, Everett AD, Chevalier RL, Carey RM, Gomez RA
  Title
Angiotensin II type 1 receptor: role in renal growth and gene expression during normal development.
  Journal
Am J Physiol 266:F911-8 (1994)

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