KEGG DISEASE: Renal hypodysplasia and aplasia

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 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

Pathway

hsa04151

PI3K-Akt signaling pathway

hsa04810

Regulation of actin cytoskeleton

Gene

(RHDA1) ITGA8 [HSA:8516] [KO:K06584]
(RHDA2) FGF20 [HSA:26281] [KO:K04358]
(RHDA3) GREB1L [HSA:80000] [KO:K27478]
(RHDA4) GFRA1 [HSA:2674] [KO:K19895]

Other DBs

ICD-11:

LB30.00

MeSH:

C536482 C563261

OMIM:

191830 615721 617805 619887

Reference

PMID:15888565

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

PMID:16731295

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

PMID:24439109 (RHDA1)

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

PMID:22698282 (RHDA2)

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

PMID:29100091 (RHDA3)

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

Reference

PMID:33020172 (RHDA4)

Authors

Arora V, Khan S, W El-Hattab A, Dua Puri R, Rocha ME, Merdzanic R, Paknia O, Beetz C, Rolfs A, Bertoli-Avella AM, Bauer P, Verma IC

Title

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.

Journal

J Am Soc Nephrol 32:223-228 (2021)
DOI:10.1681/ASN.2020040478

» Japanese version

All links

Disease (4)   
   OMIM (4)   
All databases (4)   

Download RDF

DBGET integrated database retrieval system