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Alport Syndrome

Known as: Hereditary Nephritis, NEPHRITIS WITH NERVE DEAFNESS, HEREDITARY, HEREDITARY NEPHRITIS ALPORTS SYNDROME 
A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females… 
National Institutes of Health

Related topics

Related topics

12 relations
Alport Syndrome, X-LinkedCOL4A3 geneCOL4A3 wt AlleleCOL4A5 gene

Broader (5)

Hereditary DiseasesHereditary nephritisNephritisSensorineural Hearing Loss (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2009
Review
2009
Opinion: Ocular features aid the diagnosis of Alport syndrome
Alport syndrome is a common cause of inherited kidney failure but often goes unrecognized. Most affected families show an X… 
2008
2008
Immunocytology in the assessment of patients with asymptomatic hematuria
Painless hematuria has remained a diagnostic challenge in daily urological practice. Key problem in the assessment of these… 
Highly Cited
2003
Highly Cited
2003
Genetic cause of X-linked Alport syndrome in a family of domestic dogs
Alport syndrome is a hereditary disease of type IV (basement membrane) collagens that occurs spontaneously in humans and dogs. In… 
Highly Cited
1994
Highly Cited
1994
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.
A group of 22 unrelated patients with sporadic or non-X-linked Alport syndrome were screened for mutations in the non-collagenous… 
Highly Cited
1993
Highly Cited
1993
Hereditary nephritis (Alport's syndrome)--clinical profile and inheritance in 28 kindreds.
Sixty-three patients, (52 males and 11 females) from 28 kindreds of hereditary nephritis (Alport's syndrome) were identified over… 
1991
1991
Use of the polymerase chain reaction to clone and sequence a cDNA encoding the bovine alpha 3 chain of type IV collagen.
Highly Cited
1990
Highly Cited
1990
Complete primary structure of the triple-helical region and the carboxyl-terminal domain of a new type IV collagen chain, alpha 5(IV).
Highly Cited
1990
Highly Cited
1990
Posttransplant anti-glomerular basement membrane nephritis in related males with Alport syndrome.
This report describes the development of anti-glomerular basement membrane (GBM) glomerulonephritis after kidney transplantation… 
Review
1986
Review
1986
Glomerular basement membrane abnormalities associated with apparently idiopathic hematuria: ultrastructural morphometric analysis.
Highly Cited
1966
Highly Cited
1966
Familial and nonfamilial benign hematuria
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