KEGG DISEASE: Congenital anomalies of kidney and urinary tract

DISEASE: Congenital anomalies of kidney and urinary tract

Entry

H01867                      Disease

Name

Congenital anomalies of kidney and urinary tract

Subgroup

CAKUT with hearing loss, abnormal ears, or developmental delay (CAKUTHED)

Description

Congenital anomalies of the kidney and urinary tract (CAKUT) include a wide range of structural malformations resulting from defects in the morphogenesis of the kidney and of the urinary tract. CAKUT represent a broad spectrum of abnormalities, from transient hydronephrosis to severe bilateral renal agenesis. The most severe cases of CAKUT (bilateral aplasia, hypoplasia, dysplasia, obstructive uropathy, and reflux nephropathy) are the leading cause of pediatric end-stage renal disease (ESRD) in children. Both genetic abnormalities and the fetal environment contribute to CAKUT.

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
     H01867  Congenital anomalies of kidney and urinary tract
    LB31  Structural developmental anomalies of urinary tract
     H01867  Congenital anomalies of kidney and urinary tract

Gene

(CAKUT1) DSTYK [HSA:25778] [KO:K16288]
(CAKUT2) TBX18 [HSA:9096] [KO:K10183]
(CAKUT3) NRIP1 [HSA:8204] [KO:K17965]
(CAKUTHED) PBX1 [HSA:5087] [KO:K09355]

Other DBs

ICD-11:

LB30 LB31

ICD-10:

Q62.0

MeSH:

C566906

OMIM:

610805 143400 618270 617641

Reference

PMID:28398236

Authors

Capone VP, Morello W, Taroni F, Montini G

Title

Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.

Journal

Int J Mol Sci 18:E796 (2017)
DOI:10.3390/ijms18040796

Reference

PMID:26981222

Authors

Ramanathan S, Kumar D, Khanna M, Al Heidous M, Sheikh A, Virmani V, Palaniappan Y

Title

Multi-modality imaging review of congenital abnormalities of kidney and upper urinary tract.

Journal

World J Radiol 8:132-41 (2016)
DOI:10.4329/wjr.v8.i2.132

Reference

PMID:23862974 (DSTYK)

Authors

Sanna-Cherchi S, Sampogna RV, Papeta N, Burgess KE, Nees SN, Perry BJ, Choi M, Bodria M, Liu Y, Weng PL, Lozanovski VJ, Verbitsky M, Lugani F, Sterken R, Paragas N, Caridi G, Carrea A, Dagnino M, Materna-Kiryluk A, Santamaria G, Murtas C, Ristoska-Bojkovska N, Izzi C, Kacak N, Bianco B, Giberti S, Gigante M, Piaggio G, Gesualdo L, Vukic DK, Vukojevic K, Saraga-Babic M, Saraga M, Gucev Z, Allegri L, Latos-Bielenska A, Casu D, State M, Scolari F, Ravazzolo R, Kiryluk K, Al-Awqati Q, D'Agati VD, Drummond IA, Tasic V, Lifton RP, Ghiggeri GM, Gharavi AG

Title

Mutations in DSTYK and dominant urinary tract malformations.

Journal

N Engl J Med 369:621-9 (2013)
DOI:10.1056/NEJMoa1214479

Reference

PMID:26235987 (TBX18)

Authors

Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, Shril S, Hwang DY, Weiss AC, Kaminski MM, Shukrun R, Kemper MJ, Lehnhardt A, Beetz R, Sanna-Cherchi S, Verbitsky M, Gharavi AG, Stuart HM, Feather SA, Goodship JA, Goodship TH, Woolf AS, Westra SJ, Doody DP, Bauer SB, Lee RS, Adam RM, Lu W, Reutter HM, Kehinde EO, Mancini EJ, Lifton RP, Tasic V, Lienkamp SS, Juppner H, Kispert A, Hildebrandt F

Title

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.

Journal

Am J Hum Genet 97:291-301 (2015)
DOI:10.1016/j.ajhg.2015.07.001

Reference

PMID:28381549 (NRIP1)

Authors

Vivante A, Mann N, Yonath H, Weiss AC, Getwan M, Kaminski MM, Bohnenpoll T, Teyssier C, Chen J, Shril S, van der Ven AT, Ityel H, Schmidt JM, Widmeier E, Bauer SB, Sanna-Cherchi S, Gharavi AG, Lu W, Magen D, Shukrun R, Lifton RP, Tasic V, Stanescu HC, Cavailles V, Kleta R, Anikster Y, Dekel B, Kispert A, Lienkamp SS, Hildebrandt F

Title

A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.

Journal

J Am Soc Nephrol 28:2364-2376 (2017)
DOI:10.1681/ASN.2016060694

Reference

PMID:28566479 (PBX1)

Authors

Heidet L, Moriniere V, Henry C, De Tomasi L, Reilly ML, Humbert C, Alibeu O, Fourrage C, Bole-Feysot C, Nitschke P, Tores F, Bras M, Jeanpierre M, Pietrement C, Gaillard D, Gonzales M, Novo R, Schaefer E, Roume J, Martinovic J, Malan V, Salomon R, Saunier S, Antignac C, Jeanpierre C

Title

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

Journal

J Am Soc Nephrol 28:2901-2914 (2017)
DOI:10.1681/ASN.2017010043

LinkDB

» Japanese version

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