CAKUT2
MCID: CNG499
MIFTS: 54
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Congenital Anomalies of Kidney and Urinary Tract 2 (CAKUT2)
Categories:
Genetic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Congenital Anomalies of Kidney and Urinary Tract 2:
Characteristics:Inheritance:
Autosomal dominant 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
variable phenotype some patients may be asymptomatic variable age at onset (range prenatal to mid-adulthood) some patients may need surgery or renal transplant four unrelated families have been reported (last curated september 2015) Classifications: |
OMIM®: 57 Congenital anomalies of the kidneys and urinary tract (CAKUT) encompasses a spectrum of developmental disorders of the urinary tract that can range from mild vesicoureteral reflux to severe renal agenesis. Other phenotypes include renal duplication, small kidneys, ureteropelvic junction obstruction, hydronephrosis, and renal dysplasia. These abnormalities can result in kidney damage, and possibly renal failure (summary by Vivante et al., 2015). For a discussion of genetic heterogeneity of CAKUT, see 610805. (143400) (Updated 08-Dec-2022) MalaCards based summary: Congenital Anomalies of Kidney and Urinary Tract 2, also known as multicystic renal dysplasia, bilateral, is related to urinary tract infection and hydronephrosis, and has symptoms including flank pain An important gene associated with Congenital Anomalies of Kidney and Urinary Tract 2 is TBX18 (T-Box Transcription Factor 18), and among its related pathways/superpathways are Genes controlling nephrogenesis and Development of ureteric collection system. The drugs Pharmaceutical Solutions and Lamivudine have been mentioned in the context of this disorder. Affiliated tissues include kidney, smooth muscle and appendix, and related phenotypes are renal insufficiency and back pain UniProtKB/Swiss-Prot: 73 A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children. GARD: 19 A rare lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional. Disease Ontology 11 Cakut2: A CAKUT that has material basis in heterozygous mutation in the TBX18 gene on chromosome 6q14. Ureteropelvic junction obstruction: A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter. |
Human phenotypes related to Congenital Anomalies of Kidney and Urinary Tract 2:30 (show all 9)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:143400 (Updated 08-Dec-2022)UMLS symptoms related to Congenital Anomalies of Kidney and Urinary Tract 2:flank pain MGI Mouse Phenotypes related to Congenital Anomalies of Kidney and Urinary Tract 2:45
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Drugs for Congenital Anomalies of Kidney and Urinary Tract 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 12)
Interventional clinical trials:(show all 13)
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Organs/tissues related to Congenital Anomalies of Kidney and Urinary Tract 2:
MalaCards :
Kidney,
Smooth Muscle,
Appendix,
Neutrophil,
Cortex,
Spinal Cord,
Testis
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Articles related to Congenital Anomalies of Kidney and Urinary Tract 2:(show top 50) (show all 2631)
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ClinVar genetic disease variations for Congenital Anomalies of Kidney and Urinary Tract 2:5
UniProtKB/Swiss-Prot genetic disease variations for Congenital Anomalies of Kidney and Urinary Tract 2:73
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Search
GEO
for disease gene expression data for Congenital Anomalies of Kidney and Urinary Tract 2.
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Biological processes related to Congenital Anomalies of Kidney and Urinary Tract 2 according to GeneCards Suite gene sharing:(show all 17)
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