| H00822 | |
| H番号 | H00822 |
| 名称 | 腎低形成および腎欠損 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (RHDA1) ITGA8 [HSA:8516] [KO:K06584] (RHDA2) FGF20 [HSA:26281] [KO:K04358] (RHDA3) GREB1L [HSA:80000] (RHDA4) GFRA1 [HSA:2674] [KO:K19895] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LB30.00 ICD-10: Q60.1 MeSH: C536482 C563261 OMIM: 191830 615721 617805 619887 |
| 文献 | PMID:15888565 著者 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 タイトル De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure. 雑誌 J Am Soc Nephrol 16:2141-9 (2005) DOI:10.1681/ASN.2004090776 PMID:16731295 著者 Schonfelder EM, Knuppel T, Tasic V, Miljkovic P, Konrad M, Wuhl E, Antignac C, Bakkaloglu A, Schaefer F, Weber S タイトル Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans. 雑誌 Am J Kidney Dis 47:1004-12 (2006) DOI:10.1053/j.ajkd.2006.02.177 PMID:24439109 (RHDA1) 著者 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 タイトル Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans. 雑誌 Am J Hum Genet 94:288-94 (2014) DOI:10.1016/j.ajhg.2013.12.017 PMID:22698282 (RHDA2) 著者 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 タイトル FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man. 雑誌 Dev Cell 22:1191-207 (2012) DOI:10.1016/j.devcel.2012.04.018 PMID:29100091 (RHDA3) 著者 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 タイトル Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice. 雑誌 Am J Hum Genet 101:803-814 (2017) DOI:10.1016/j.ajhg.2017.09.026 PMID:33020172 (RHDA4) 著者 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 タイトル Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis. 雑誌 J Am Soc Nephrol 32:223-228 (2021) DOI:10.1681/ASN.2020040478 |