Tubulointerstitial kidney disease, autosomal dominant, 2

Preferred Label : Tubulointerstitial kidney disease, autosomal dominant, 2;

Symbol : ADTKD2;

CISMeF acronym : ADMCKD1; MCKD; MCKD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Polycystic kidneys, medullary type; MCKD; ADMCKD1; Medullary cystic kidney disease, autosomal dominant; MCKD1; Medullary cystic kidney disease 1;

Description : Medullary cystic kidney disease (MCKD) is an autosomal dominant form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade (Wolf et al., 2004). Although early reports suggested that medullary cystic kidney disease and familial juvenile nephronophthisis (NPHP1; 256100) represented the same disease entity because of the overlapping phenotype (Chamberlin et al., 1977), they are now considered to be distinct disorders. MCKD has adult onset and shows autosomal dominant inheritance, whereas NPHP1 has juvenile onset and shows autosomal recessive inheritance (Christodoulou et al., 1998). NPHP1 is caused by mutation in the nephrocystin gene (NPHP1; 607100) on chromosome 2q13. - Genetic Heterogeneity of Medullary Cystic Kidney Disease See also MCKD2 (603860), which is caused by mutation in the UMOD gene (191845) on chromosome 16p.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transmembrane mucin 1 gene (MUC1, 158340.0001).;

Laboratory abnormalities : Hyperuricemia; Increased serum creatinine; Decreased glomerular filtration rate (GFR);

Prefixed ID : #174000;

Details

Origin ID

174000;

UMLS CUI

C1868139;

Automatic exact mappings (from CISMeF team)
- MUC1 wt Allele [NCIt concept]
- MUC1-related autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
- Mucin 1 related autosomal dominant tubulointerstitial kidney disease (disorder) [SNOMED CT concept]
- mucin 1, cell surface associated [ORDO Gene]
- symbol withdrawn MCKD1 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
- Autosomal dominant tubulointerstitial kidney disease (disorder) [SNOMED CT concept]
- Medullary cystic kidney disease 1 [MeSH concept]
- medullary cystic kidney disease 1 [MeSH Supplementary Concept]
Genes related to phenotype
- Mucin 1, cell surface associated [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral cortical atrophy [HPO term]
- Chronic renal failure [HPO term]
- Decreased glomerular filtration rate [HPO term]
- Disintegration of the tubular basement membrane [HPO term]
- Elevated circulating creatinine concentration [HPO term]
- Glomerular sclerosis [HPO term]
- Gout [HPO term]
- Hypertension [HPO term]
- Hyperuricemia [HPO term]
- Hypotension [HPO term]
- Impaired renal uric acid clearance [HPO term]
- Reduced creatinine clearance [HPO term]
- Renal cortical atrophy [HPO term]
- Renal corticomedullary cysts [HPO term]
- Renal hypoplasia [HPO term]
- Renal salt wasting [HPO term]
- Renal tubular atrophy [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Tubular basement membrane disintegration [HPO term]
- Tubulointerstitial fibrosis [HPO term]
- Tubulointerstitial nephritis [HPO term]
- progression to end stage renal failure in late adulthood [HPO term]
ORDO concept(s)
- Autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
- MUC1-related autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Medullary cystic kidney disease 1 [MeSH concept]
- Mucin 1 related autosomal dominant tubulointerstitial kidney disease (disorder) [SNOMED CT concept]
- medullary cystic kidney disease 1 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients