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Alport syndrome

Alport syndrome is a rare genetic disorder, characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. Alport syndrome can also affect the eyes, though the changes do not usually affect vision, except when changes to the lens occur in later life. Blood in urine is universal. Proteinuria is a feature as kidney disease progresses.

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Specialty
Medical genetics

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Signs and symptoms

Pathophysiology

Diagnosis

Treatment

Notable people with Alport syndrome

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Alport syndrome

Nodes53
Edges52
Triples83
Avg. degree1.96
Density0.037736
Components1

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Alport syndrome

Top relations

related to Biopsy of kidneys or skin · 10
Alport syndrome → Alport, Changes, COL3-4-5, Early, Electron, FSGS, GBM, However, Immunohistochemistry, To
related to Genetics · 10
Alport syndrome → Alport, Basement, COL4A3, COL4A4, COL4A5, It, IV, Mutations, Type IV, When
related to Kidney disease and kidney failure · 10
Alport syndrome → ACE, Alport, CKD, GBM, Goodpasture, In, IV, Once, The, Transplantation
related to Hearing loss · 8
Alport syndrome → ACE, Alport, Characteristically, For, Hearing, However, It, This
related to Chronic kidney disease · 7
Alport syndrome → ACE, Alport, Blood, In, Progressive, Protein, This
related to Eye changes · 7
Alport syndrome → Alport, It, Lenticonus, Macular, Mild, These, Various
related to Leiomyomatosis · 6
Alport syndrome → Alport, CT, Diffuse, Leiomyomatosis, MRI, Symptoms
related to References · 5
Alport syndrome → Alport, Genetics Home Reference, Medicine, This, United States National Library
related to history · 4
Alport syndrome → Alport, Most, The, While X-linked
related to Signs and symptoms · 3
Alport syndrome → Alport, Some, These

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Important terminology

alport syndrome kidney disease hearing usually collagen loss type iv also mutations may patients gene col4a5 genetic changes basement disorder

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
Alport syndromeSpecialtyMedical genetics1.00infobox
Alport syndromeis arare genetic disorder0.90text
incomplete foveal hypoplasia or staircase foveopathy are common in Alport syndrome.It may also be associated with retinitis pigmentosa.LeiomyomatosisDiffuse leiomyomatosis of the oesophagusinstance ofMacular abnormalities0.80text
tracheobronchial tree has been reported in some families with Alport syndromeinstance ofMacular abnormalities0.80text
incomplete foveal hypoplasia or staircase foveopathy are common in Alport syndrome.It may also be associated with retinitis pigmentosainstance ofMacular abnormalities0.80text
Alport syndromerelated to Biopsy of kidneys or skinTo0.60section
Alport syndromerelated to Biopsy of kidneys or skinChanges0.60section
Alport syndromerelated to Biopsy of kidneys or skinFSGS0.60section
Alport syndromerelated to Biopsy of kidneys or skinElectron0.60section
Alport syndromerelated to Biopsy of kidneys or skinGBM0.60section
Alport syndromerelated to Biopsy of kidneys or skinEarly0.60section
Alport syndromerelated to Biopsy of kidneys or skinImmunohistochemistry0.60section

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