KEGG   DISEASE: Renal hypodysplasia and aplasia
Entry
H00822                      Disease                                

Name
Renal hypodysplasia and aplasia
Description
Renal hypodysplasia and aplasia (RHDA) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia. Heterozygous mutations of several genes have been identified as genetic causes of RHDA with various severity.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the urinary system
   H00822  Renal hypodysplasia and aplasia
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the urinary system
    LB30  Structural developmental anomalies of kidneys
     H00822  Renal hypodysplasia and aplasia
Gene
(RHDA1) ITGA8 [HSA:8516] [KO:K06584]
(RHDA2) FGF20 [HSA:26281] [KO:K04358]
(RHDA3) GREB1L [HSA:80000]
Other DBs
ICD-11: LB30.00
ICD-10: Q60.1
MeSH: C536482 C563261
OMIM: 191830 615721 617805
Reference
  Authors
Jenkins D, Bitner-Glindzicz M, Malcolm S, Hu CC, Allison J, Winyard PJ, Gullett AM, Thomas DF, Belk RA, Feather SA, Sun TT, Woolf AS
  Title
De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.
  Journal
J Am Soc Nephrol 16:2141-9 (2005)
DOI:10.1681/ASN.2004090776
Reference
  Authors
Schonfelder EM, Knuppel T, Tasic V, Miljkovic P, Konrad M, Wuhl E, Antignac C, Bakkaloglu A, Schaefer F, Weber S
  Title
Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans.
  Journal
Am J Kidney Dis 47:1004-12 (2006)
DOI:10.1053/j.ajkd.2006.02.177
Reference
  Authors
Humbert C, Silbermann F, Morar B, Parisot M, Zarhrate M, Masson C, Tores F, Blanchet P, Perez MJ, Petrov Y, Khau Van Kien P, Roume J, Leroy B, Gribouval O, Kalaydjieva L, Heidet L, Salomon R, Antignac C, Benmerah A, Saunier S, Jeanpierre C
  Title
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
  Journal
Am J Hum Genet 94:288-94 (2014)
DOI:10.1016/j.ajhg.2013.12.017
Reference
  Authors
Barak H, Huh SH, Chen S, Jeanpierre C, Martinovic J, Parisot M, Bole-Feysot C, Nitschke P, Salomon R, Antignac C, Ornitz DM, Kopan R
  Title
FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.
  Journal
Dev Cell 22:1191-207 (2012)
DOI:10.1016/j.devcel.2012.04.018
Reference
  Authors
De Tomasi L, David P, Humbert C, Silbermann F, Arrondel C, Tores F, Fouquet S, Desgrange A, Niel O, Bole-Feysot C, Nitschke P, Roume J, Cordier MP, Pietrement C, Isidor B, Khau Van Kien P, Gonzales M, Saint-Frison MH, Martinovic J, Novo R, Piard J, Cabrol C, Verma IC, Puri R, Journel H, Aziza J, Gavard L, Said-Menthon MH, Heidet L, Saunier S, Jeanpierre C
  Title
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
  Journal
Am J Hum Genet 101:803-814 (2017)
DOI:10.1016/j.ajhg.2017.09.026

» Japanese version

DBGET integrated database retrieval system