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Autosomal dominant Alport syndrome

Synonyms
ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT; Alport syndrome 3, autosomal dominant; Alport syndrome dominant type; COL4A3 Alport Syndrome and Thin Basement Membrane Nephropathy; Renal failure and sensorineural hearing loss
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

In Alport syndrome (AS) a spectrum of phenotypes ranging from progressive renal disease with extrarenal abnormalities to isolated hematuria with a non-progressive or very slowly progressive course is observed. Approximately two thirds of AS is X-linked (XLAS); approximately 15% is autosomal recessive (ARAS), and approximately 20% is autosomal dominant (ADAS). In the absence of treatment, renal disease progresses from microscopic hematuria (microhematuria) to proteinuria, progressive renal insufficiency, and end-stage renal disease (ESRD) in all males with XLAS, and in all males and females with ARAS. Progressive sensorineural hearing loss (SNHL) is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In individuals with ADAS, ESRD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare. [from GeneReviews]

Available tests

64 tests are in the database for this condition.

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Clinical tests (64 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATS2, ATS3, ATS3A, ATS3B, BFH2, COL4A3
    Summary: collagen type IV alpha 3 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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