Polycystic kidney disease 4 with or without polycystic liver disease

Preferred Label : Polycystic kidney disease 4 with or without polycystic liver disease;

Symbol : PKD4;

CISMeF acronym : ARPKD; PKD3; PKD4; PKHD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Polycystic kidney disease 4 with or without hepatic disease; Polycystic kidney disease, autosomal recessive; Polycystic kidney and hepatic disease 1; Polycystic kidney disease, Infantile, type I; Pkd3; ARPKD; PKHD1;

Included titles and symbols : Hepatic fibrosis, congenital;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the PKHD1 gene (606702.0001);

Prefixed ID : #263200;

Détails

Origin ID

263200;

UMLS CUI

C0085548;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive polycystic kidney disease [ICD-11 More detail]
- Congenital Hepatic Fibrosis [NCIt concept]
- Congenital hepatic fibrosis [HPO term]
- Congenital hepatic fibrosis [MedDRA Preferred Term]
- Congenital hepatic fibrosis [HRDO Sign]
- Congenital hepatic fibrosis [ICD-11 More detail]
- Congenital hepatic fibrosis (disorder) [SNOMED CT concept]
- PKHD1 Gene [NCIt concept]
- PKHD1 ciliary IPT domain containing fibrocystin/polyductin [ORDO Gene]
- PKHD1 wt Allele [NCIt concept]
- PRKD3 wt Allele [NCIt concept]
- autosomal dominant polycystic kidney disease [DO Concept]
- congenital hepatic fibrosis [Radlex concept]
- congenital hepatic fibrosis [SNOMED Notion]
- hepatic fibrosis, congenital [MeSH concept]
- hepatic fibrosis, congenital [MeSH Supplementary Concept]
- polycystic kidney disease 3 [DO Concept]
- polycystin 2, transient receptor potential cation channel [ORDO Gene]
- polycystin 2, transient receptor potential cation channel [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal Recessive Polycystic Kidney Disease [NCIt concept]
- Autosomal recessive polycystic kidney disease [ORDO Disease]
- Polycystic kidney disease, infantile type (disorder) [SNOMED CT concept]
- Polycystic kidney, autosomal recessive [MedDRA LLT]
- Polycystic kidney, infantile type [ICD-10 Sub-category]
- Polycystic kidney, infantile type [ICD-10 Sub-category (who)]
- autosomal recessive polycystic kidney disease [DO Concept]
- autosomal recessive polycystic kidney disease [Disease (Nov.)]
- polycystic kidney disease, infantile type [SNOMED Notion]
- polycystic kidney, autosomal recessive [MeSH Descriptor]
- polycystic kidney, autosomal recessive [MeSH concept]
DO Cross reference
- autosomal recessive polycystic kidney disease [DO Concept]
- polycystic kidney disease 4 [DO Concept]
False automatic mappings
- Fibrocystin [NCIt concept]
Genes related to phenotype
- Pkhd1 ciliary ipt domain-containing fibrocystin/polyductin [OMIM gene]
HPO term(s)
- Absence of renal corticomedullary differentiation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dehydration [HPO term]
- Enlarged kidney [HPO term]
- Esophageal varix [HPO term]
- Hepatic cysts [HPO term]
- Hepatomegaly [HPO term]
- Hypertension [HPO term]
- Interstitial fibrosis [HPO term]
- Neonatal death [HPO term]
- Oligohydramnios [HPO term]
- Pancreatic cysts [HPO term]
- Periportal fibrosis [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Portal hypertension [HPO term]
- Potter facies [HPO term]
- Pulmonary hypoplasia [HPO term]
- Renal cyst [HPO term]
- Renal insufficiency [HPO term]
- Splenomegaly [HPO term]
- Tubulointerstitial fibrosis [HPO term]
ORDO concept(s)
- Autosomal recessive polycystic kidney disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Recessive Polycystic Kidney Disease [NCIt concept]
- Autosomal recessive polycystic kidney disease [ORDO Disease]
- Polycystic kidney disease, infantile type (disorder) [SNOMED CT concept]
- Polycystic kidney, autosomal recessive [MedDRA LLT]
- Polycystic kidney, autosomal recessive [ICD-9 code]
- Polycystic kidney, infantile type [ICD-10 Sub-category]
- autosomal recessive polycystic kidney disease [DO Concept]
- autosomal recessive polycystic kidney disease [Disease (Nov.)]
- polycystic kidney disease, infantile type [SNOMED Notion]
- polycystic kidney, autosomal recessive [MeSH Descriptor]
- polycystic kidney, autosomal recessive [MeSH concept]

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