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Autosomal recessive polycystic kidney disease

Autosomal recessive polycystic kidney disease (ARPKD) is the recessive form of polycystic kidney disease. It is associated with a group of congenital fibrocystic syndromes. Mutations in the PKHD1 (chromosomal locus 6p12.2) cause ARPKD.

Signs and symptoms, Genetics & Treatment

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Causes
Mutations in the PKHD1 gene
Diagnostic method
Ultrasound
Other names
ARPKD
Specialty
Medical genetics
Symptoms
Polyuria
Treatment
Medications for hypertension

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Signs and symptoms

Genetics

Diagnosis

Treatment

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Autosomal recessive polycystic kidney disease

Nodes31
Edges30
Triples10
Avg. degree1.94
Density0.064516
Components1

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Autosomal recessive polycystic kidney disease

Top relations

has treatment · 3
Autosomal recessive polycystic kidney disease → Kidney, Medications, The
Causes · 1
Autosomal recessive polycystic kidney disease → Mutations in the PKHD1 gene
Diagnostic method · 1
Autosomal recessive polycystic kidney disease → Ultrasound
Other names · 1
Autosomal recessive polycystic kidney disease → ARPKD
Specialty · 1
Autosomal recessive polycystic kidney disease → Medical genetics
Symptoms · 1
Autosomal recessive polycystic kidney disease → Polyuria
Treatment · 1
Autosomal recessive polycystic kidney disease → Medications for hypertension
related to Diagnosis · 1
Autosomal recessive polycystic kidney disease → Ultrasonography

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Important terminology

arpkd pkhd1 disease mutations fpc kidney found polycystic gene autosomal recessive hypertension protein also symptoms treatment cases large genetics presentation

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
Autosomal recessive polycystic kidney diseaseCausesMutations in the PKHD1 gene1.00infobox
Autosomal recessive polycystic kidney diseaseDiagnostic methodUltrasound1.00infobox
Autosomal recessive polycystic kidney diseaseOther namesARPKD1.00infobox
Autosomal recessive polycystic kidney diseaseSpecialtyMedical genetics1.00infobox
Autosomal recessive polycystic kidney diseaseSymptomsPolyuria1.00infobox
Autosomal recessive polycystic kidney diseaseTreatmentMedications for hypertension1.00infobox
Autosomal recessive polycystic kidney diseasehas treatmentThe0.60section
Autosomal recessive polycystic kidney diseasehas treatmentMedications0.60section
Autosomal recessive polycystic kidney diseasehas treatmentKidney0.60section
Autosomal recessive polycystic kidney diseaserelated to DiagnosisUltrasonography0.60section

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