H00575 | |
H number | H00575 |
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 | Congenital malformation |
Network | - |
Gene | REN [HSA:5972] [KO:K01380] AGT [HSA:183] [KO:K09821] ACE [HSA:1636] [KO:K01283] AGTR1 [HSA:185] [KO:K04166] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LB30.3 ICD-10: Q63.8 MeSH: C537048 OMIM: 267430 |
Reference | PMID:20969579 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) DOI:10.1111/j.1749-6632.2010.05817.x PMID:19924102 AUTHORS Gubler MC, Antignac C TITLE Renin-angiotensin system in kidney development: renal tubular dysgenesis. JOURNAL Kidney Int 77:400-6 (2010) DOI:10.1038/ki.2009.423 PMID:16116425 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) DOI:10.1038/ng1623 PMID:8023970 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) DOI:10.1152/ajprenal.1994.266.6.F911 |