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CAKUT3
MCID: CNG540
MIFTS: 15
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Congenital Anomalies of Kidney and Urinary Tract 3 (CAKUT3)
Categories:
Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Congenital Anomalies of Kidney and Urinary Tract 3:Characteristics:OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
variable expressivity incomplete penetrance one family has been reported (last curated january 2019) variable age at diagnosis (onset usually in childhood) HPO:33
congenital anomalies of kidney and urinary tract 3:
Onset and clinical course variable expressivity incomplete penetrance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Nephrological diseases |
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UniProtKB/Swiss-Prot
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76
Congenital anomalies of kidney and urinary tract 3: 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. CAKUT3 inheritance is autosomal dominant.
MalaCards based summary : Congenital Anomalies of Kidney and Urinary Tract 3, is also known as cakut3. An important gene associated with Congenital Anomalies of Kidney and Urinary Tract 3 is NRIP1 (Nuclear Receptor Interacting Protein 1). Affiliated tissues include kidney, and related phenotypes are ectopic kidney and hydronephrosis
Description from OMIM:
618270
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Diseases in the Congenital Anomalies of Kidney and Urinary Tract 2 family:
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Human phenotypes related to Congenital Anomalies of Kidney and Urinary Tract 3:33
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MalaCards organs/tissues related to Congenital Anomalies of Kidney and Urinary Tract 3:42
Kidney
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Articles related to Congenital Anomalies of Kidney and Urinary Tract 3:
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Genes related to Congenital Anomalies of Kidney and Urinary Tract 3 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Congenital Anomalies of Kidney and Urinary Tract 3:6
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Search
GEO
for disease gene expression data for Congenital Anomalies of Kidney and Urinary Tract 3.
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