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X-linked Alport syndrome

Synonyms
Alport Syndrome and Thin Basement Membrane Nephropathy; Alport syndrome 1, X-linked recessive; NEPHROPATHY AND DEAFNESS, X-LINKED
Modes of inheritance
X-linked dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Alport Syndrome
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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Clifford E Kashtan
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Available tests

78 tests are in the database for this condition.

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Clinical tests (78 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ASLN, ATS, ATS1, CA54, COL4A5
    Summary: collagen type IV alpha 5 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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