| H00822 | |
| H number | H00822 |
| 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 |
| Network | - |
| Gene | (RHDA1) ITGA8 [HSA:8516] [KO:K06584] (RHDA2) FGF20 [HSA:26281] [KO:K04358] (RHDA3) GREB1L [HSA:80000] (RHDA4) GFRA1 [HSA:2674] [KO:K19895] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LB30.00 ICD-10: Q60.1 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 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 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 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 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 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 |