Congenital anomalies of kidney and urinary tract 1

Preferred Label : Congenital anomalies of kidney and urinary tract 1;

Symbol : CAKUT1;

CISMeF acronym : CAKUT1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Renal hypodysplasia, nonsyndromic, 1; RHDNS1;

Description : Congenital anomalies of the kidney and urinary tract (CAKUT) is a disorder characterized by variable anatomic defects of the kidney (e.g., renal hypodysplasia, renal agenesis, solitary kidney) and ureter (e.g., ureteropelvic junction obstruction (UPJO), vesicoureteral reflex) (summary by Sanna-Cherchi et al., 2013). See also renal adysplasia (191830) and vesicoureteral reflux (VUR1; 193000).;

Inheritance : Autosomal dominant;

Molecular basis : Conferred by mutation in the dual serine/threonine and tyrosine protein kinase gene (DSTYK, 612666.0001);

Prefixed ID : #610805;

Details

Origin ID

610805;

UMLS CUI

C1835826;

Currated CISMeF NLP mapping
- CAKUT1 [DO Concept]
- renal hypodysplasia, nonsyndromic, 1 [MeSH concept]
- renal hypodysplasia, nonsyndromic, 1 [MeSH Supplementary Concept]
DO Cross reference
- CAKUT1 [DO Concept]
Genes related to phenotype
- Dual serine/threonine and tyrosine protein kinase [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Incomplete penetrance [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Ureteropelvic junction obstruction [HPO term]
- Vesicoureteral reflux [HPO term]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- CAKUT1 [DO Concept]
- renal hypodysplasia, nonsyndromic, 1 [MeSH concept]
- renal hypodysplasia, nonsyndromic, 1 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- cakut [MeSH concept]
- cakut [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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