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CAKUT2
MCID: CNG499
MIFTS: 52
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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:OMIM®:57 (Updated 05-Apr-2021)
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:31Classifications: |
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GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97364 Definition Bilateral 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. Epidemiology The prevalence and incidence of bilateral MCDK are unknown. Clinical description Bilateral 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. Etiology MCDK 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 1?, 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.
MalaCards based summary : Congenital Anomalies of Kidney and Urinary Tract 2, also known as multicystic renal dysplasia, bilateral, is related to congenital anomalies of kidney and urinary tract 1 and urinary tract infection, 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 Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. The drugs Ibuprofen and Lamivudine have been mentioned in the context of this disorder. Affiliated tissues include kidney, smooth muscle and liver, and related phenotypes are renal insufficiency and nephrotic syndrome Disease Ontology : 12 A CAKUT that has material basis in heterozygous mutation in the TBX18 gene on chromosome 6q14. 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 05-Apr-2021) UniProtKB/Swiss-Prot : 72 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 2:31 (show all 12)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:143400 (Updated 05-Apr-2021)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 2:46
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Drugs for Congenital Anomalies of Kidney and Urinary Tract 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 11)
Interventional clinical trials:(show all 11)
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MalaCards organs/tissues related to Congenital Anomalies of Kidney and Urinary Tract 2:40
Kidney,
Smooth Muscle,
Liver,
Breast,
Testis,
Bone Marrow,
Bone
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Articles related to Congenital Anomalies of Kidney and Urinary Tract 2:(show top 50) (show all 1933)
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Genes related to Congenital Anomalies of Kidney and Urinary Tract 2 (1 elite genes):(show all 17) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Congenital Anomalies of Kidney and Urinary Tract 2:6
UniProtKB/Swiss-Prot genetic disease variations for Congenital Anomalies of Kidney and Urinary Tract 2:72
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Search
GEO
for disease gene expression data for Congenital Anomalies of Kidney and Urinary Tract 2.
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Cellular components related to Congenital Anomalies of Kidney and Urinary Tract 2 according to GeneCards Suite gene sharing:
Biological processes related to Congenital Anomalies of Kidney and Urinary Tract 2 according to GeneCards Suite gene sharing:(show all 32)
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