Polycystic kidney disease 2 with or without polycystic liver disease

Preferred Label : Polycystic kidney disease 2 with or without polycystic liver disease;

Symbol : PKD2;

CISMeF acronym : APKD2; PKD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : APKD2; Polycystic kidney disease, adult, type II;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the polycystin 2 gene (PKD2, 173910.0001);

Laboratory abnormalities : Increased serum creatinine;

Prefixed ID : #613095;

Details

Origin ID

613095;

UMLS CUI

C2751306;

Currated CISMeF NLP mapping
- Autosomal Dominant Polycystic Kidney Disease Type 2 [NCIt concept]
- Autosomal dominant polycystic kidney disease, Type 2 [ICD-11 More detail]
- polycystic kidney disease 2 [DO Concept]
- polycystic kidney, type 2 autosomal dominant disease [MeSH concept]
DO Cross reference
- polycystic kidney disease 2 [DO Concept]
Genes related to phenotype
- Polycystin 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dextrocardia [HPO term]
- Elevated circulating creatinine concentration [HPO term]
- Facial asymmetry [HPO term]
- Hepatic cysts [HPO term]
- Hypertension [HPO term]
- Incomplete penetrance [HPO term]
- Juvenile onset [HPO term]
- Middle age onset [HPO term]
- Midface retrusion [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Progressive [HPO term]
- Recurrent urinary tract infections [HPO term]
- Renal insufficiency [HPO term]
- Situs inversus totalis [HPO term]
- Stage 5 chronic kidney disease [HPO term]
ORDO concept(s)
- Autosomal dominant polycystic kidney disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adult type polycystic kidney disease type 2 (disorder) [SNOMED CT concept]
- Autosomal Dominant Polycystic Kidney Disease Type 2 [NCIt concept]
- polycystic kidney disease 2 [DO Concept]
- polycystic kidney, type 2 autosomal dominant disease [MeSH concept]
Validated automatic mappings to NTBT
- polycystic kidney, autosomal dominant [MeSH Descriptor]

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