Digenic Alport syndrome

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Digenic Alport syndrome

ORPHA:653722Clinical subtype

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Inheritance
Autosomal dominant, Autosomal recessive
Classified as
Clinical subtype

Recorded for the broader condition

Prevalence
1-9 / 100 000 (at birth, Finland)Alport syndrome
Age of onset
Adolescent, Adult, Childhood, ElderlyAlport syndrome

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

Genes

COL4A3Disease-causing germline mutation(s)
COL4A4Disease-causing germline mutation(s)
COL4A5Disease-causing germline mutation(s)

Cross-references

MONDO 0958104UMLS C5925113

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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