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Atypical hemolytic-uremic syndrome with I factor anomaly

Synonyms
AHUS, SUSCEPTIBILITY TO, 3; Atypical hemolytic-uremic syndrome 3; HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3

Summary

Excerpted from the GeneReview: Genetic Atypical Hemolytic-Uremic Syndrome
Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).
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:
Marina Noris
Elena Bresin
Caterina Mele
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Available tests

55 tests are in the database for this condition.

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Clinical tests (55 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AHUS3, ARMD13, C3BINA, C3b-INA, FI, IF, KAF, CFI
    Summary: complement factor I

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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