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Polycystic kidney disease, adult type(PKD1)

MedGen UID:
88404
Concept ID:
C0085413
Congenital Abnormality; Disease or Syndrome
Synonyms: PKD1; Polycystic kidney disease 1; Polycystic Kidney Disease 1, Autosomal Dominant; Polycystic kidney disease 1, severe; POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE I; Polycystic Kidney, Autosomal Dominant
Modes of inheritance:
Heterogeneous
MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
Source: HPO
The production of the same or similar phenotypes (observed biochemical, physiological, and morphological characteristics of a person determined by his/her genotype) by different genetic mechanisms. There are two types: (1) allelic heterogeneity - when different alleles at a locus can produce variable expression of a condition; and (2) locus heterogeneity - the term used to describe disease in which mutations at different loci can produce the same disease phenotype.
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Polycystic kidney disease, adult type (28728008); Autosomal dominant adult polycystic kidney disease (28728008); Autosomal dominant polycystic kidney disease (28728008); ADPKD - Autosomal dominant polycystic kidney disease (28728008); Polycystic kidneys - adult type (28728008)
 
Gene (location): PKD1 (16p13.3)
OMIM®: 173900

Definition

Autosomal dominant polycystic kidney disease has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000). Genetic Heterogeneity of Polycystic Kidney Disease Polycystic kidney disease-2 (PKD2; 613095) is caused by mutation in the PKD2 gene (173910) on chromosome 4q22; PKD3 (600666) is caused by mutation in the GANAB gene (104160) on chromosome 11q13; and ARPKD (263200) is caused by mutation in the PKHD1 gene (606702) on chromosome 6p. [from OMIM]

Additional description

From GHR
Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. Additionally, people with polycystic kidney disease have an increased risk of an abnormal bulging (an aneurysm) in a large blood vessel called the aorta or in blood vessels at the base of the brain. Aneurysms can be life-threatening if they tear or rupture.The two major forms of polycystic kidney disease are distinguished by the usual age of onset and the pattern in which it is passed through families. The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood. Autosomal dominant polycystic kidney disease can be further divided into type 1 and type 2, depending on the genetic cause. The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. The signs and symptoms of this condition are usually apparent at birth or in early infancy.  https://ghr.nlm.nih.gov/condition/polycystic-kidney-disease

Clinical features

Cerebral aneurysm
MedGen UID:
220937
Concept ID:
C1290398
Disease or Syndrome
A balloon type pouch or bulge in the wall of a cerebral artery.
Colonic diverticula
MedGen UID:
41628
Concept ID:
C0012811
Anatomical Abnormality
The presence of multiple diverticula of the colon.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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