Polycystic kidney disease 1 with or without polycystic liver disease

Preferred Label : Polycystic kidney disease 1 with or without polycystic liver disease;

Symbol : PKD1;

CISMeF acronym : ADPKD; APKD1; PKD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : APKD1; Potter type III polycystic kidney disease; Polycystic kidney disease, adult; Polycystic kidney disease, adult, type I; ADPKD;

Description : Adult polycystic kidney disease is an autosomal dominant disorder with the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Genetic heterogeneity is recognized, with one locus (PKD1), responsible for the most common form. - Genetic Heterogeneity of Polycystic Kidney Disease Polycystic kidney disease-2 (613095) is caused by mutation in the PKD2 gene (173910) on chromosome 4q21-q23. At least 1 other locus exists; see 600666.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the polycystin 1 gene (PKD1, 601313.0001);

Prefixed ID : #173900;

Details

Origin ID

173900;

UMLS CUI

C3149841;

Automatic exact mappings (from CISMeF team)
- PKD1 Gene [NCIt concept]
- PKD1 gene [LOINC component]
- PRKD1 wt Allele [NCIt concept]
- polycystin 1, transient receptor potential channel interacting [HGNC gene]
- polycystin 1, transient receptor potential channel interacting [ORDO Gene]
- potter type III polycystic kidney disease [MeSH Supplementary Concept]
- potter type III polycystic kidney disease [MeSH concept]
Broader ORDO disease(s)
- Autosomal dominant polycystic kidney disease [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal Dominant Polycystic Kidney Disease [NCIt concept]
- Autosomal dominant polycystic kidney disease [ORDO Disease]
- Autosomal dominant polycystic kidney disease [ICD-11 Category]
- Autosomal dominant polycystic kidney disease (disorder) [SNOMED CT concept]
- Polycystic kidney, adult type [ICD-10 Sub-category (who)]
- Polycystic kidney, adult type [ICD-10 Sub-category]
- Polycystic kidney, autosomal dominant [MedDRA LLT]
- Polycystic kidney, autosomal dominant [ICD-9 code]
- autosomal dominant polycystic kidney disease [Disease (Nov.)]
- autosomal dominant polycystic kidney disease [DO Concept]
- polycystic kidney disease 1 [DO Concept]
- polycystic kidney, autosomal dominant [MeSH Descriptor]
- polycystic kidney, autosomal dominant [MeSH concept]
DO Cross reference
- polycystic kidney disease 1 [DO Concept]
Genes related to phenotype
- Polycystin 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cerebral berry aneurysm [HPO term]
- Colonic diverticula [HPO term]
- Hepatic cysts [HPO term]
- Hypertension [HPO term]
- Mitral regurgitation [HPO term]
- Mitral valve prolapse [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Renal insufficiency [HPO term]
ORDO concept(s)
- Autosomal dominant polycystic kidney disease [ORDO Disease]
See also inter- (CISMeF)
- PKD1 Gene [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- polycystic kidney disease 1 [DO Concept]
- potter type III polycystic kidney disease [MeSH Supplementary Concept]

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