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CAKUT2
MCID: CNG499
MIFTS: 54
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Congenital Anomalies of Kidney and Urinary Tract 2 (CAKUT2)
Categories:
Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Congenital Anomalies of Kidney and Urinary Tract 2:
Characteristics:Orphanet epidemiological data:60
congenital hydronephrosis
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: any age; OMIM:58
Inheritance:
autosomal dominant
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) HPO:33
congenital anomalies of kidney and urinary tract 2:
Onset and clinical course phenotypic variability Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Nephrological diseases
ICD10:
34
35
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NIH Rare Diseases
:
54
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 97364Disease definitionBilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), 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.EpidemiologyThe prevalence and incidence of bilateral MCDK are unknown.Clinical descriptionBilateral MCDK may be suspected antenatally at routine ultrasound scans, with the majority detected around the 20th week of gestation. It is considered a lethal entity, and most pregnancies are terminated. When born, such infants present with features of the Potter sequence (constellation of signs resulting from prolonged in utero oligohydramnios) including severe pulmonary hypoplasia and severe renal failure, limb anomalies and facial dysmorphic features, and generally die shortly after birth.EtiologyMCDK results from disrupted nephrogenesis but the exact pathogenic mechanism is still unknown. Disturbed formation of nephrons could result from impaired fetal urine flow early in development. Mutations in the HNF1B gene (17q12), coding for hepatocyte nuclear transcription factor 1β, are known to cause unilateral MCDK and have only rarely been reported for bilateral cases. MCDK is also linked to gestational diabetes and to the use of some medications during pregnancy, such as anti-epileptic drugs.Visit the Orphanet disease page for more resources.
MalaCards based summary : Congenital Anomalies of Kidney and Urinary Tract 2, also known as multicystic renal dysplasia, bilateral, is related to hydronephrosis and hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation, and has symptoms including flank pain An important gene associated with Congenital Anomalies of Kidney and Urinary Tract 2 is TBX18 (T-Box 18), and among its related pathways/superpathways are Regulation of Telomerase and Lung fibrosis. The drugs Lamivudine and Ropivacaine have been mentioned in the context of this disorder. Affiliated tissues include kidney, endothelial and monocytes, and related phenotypes are hydronephrosis and congenital megaureter Disease Ontology : 12 A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter. OMIM : 58 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) UniProtKB/Swiss-Prot : 76 Congenital anomalies of kidney and urinary tract 2: 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. |
Human phenotypes related to Congenital Anomalies of Kidney and Urinary Tract 2:60 33 (show all 16)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:143400UMLS symptoms related to Congenital Anomalies of Kidney and Urinary Tract 2:flank pain |
Drugs for Congenital Anomalies of Kidney and Urinary Tract 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 19)
Interventional clinical trials:(show all 15)
Cochrane evidence based reviews: urogenital abnormalities |
MalaCards organs/tissues related to Congenital Anomalies of Kidney and Urinary Tract 2:42
Kidney,
Endothelial,
Monocytes
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Articles related to Congenital Anomalies of Kidney and Urinary Tract 2:(show top 50) (show all 171)
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Genes related to Congenital Anomalies of Kidney and Urinary Tract 2 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Congenital Anomalies of Kidney and Urinary Tract 2:76
ClinVar genetic disease variations for Congenital Anomalies of Kidney and Urinary Tract 2:6
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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 11)
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