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GTR Home > Conditions/Phenotypes > Hemolytic uremic syndrome, atypical, susceptibility to, 1

Hemolytic uremic syndrome, atypical, susceptibility to, 1

Synonyms
AHUS, SUSCEPTIBILITY TO, 1; Atypical hemolytic-uremic syndrome 1

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

157 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (157 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AHUS1, AMBP1, ARMD4, ARMS1, CFHL3, FH, FHL1, HF, HF1, HF2, HUS, CFH
    Summary: complement factor H

  • Also known as: CFHL, CFHL1, CFHL1P, CFHR1P, FHL-1, FHR-1, FHR1, H36, H36-1, H36-2, HFL1, HFL2, CFHR1
    Summary: complement factor H related 1

  • Also known as: CFHL3, DOWN16, FHR-3, FHR3, HLF4, CFHR3
    Summary: complement factor H related 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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