AHUS4
MCID: HML032
MIFTS: 23
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Hemolytic Uremic Syndrome, Atypical 4 (AHUS4)
Categories:
Blood diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Hemolytic Uremic Syndrome, Atypical 4:
Name: Hemolytic Uremic Syndrome, Atypical 4
57
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
recurrence is possible variable age of onset (childhood to young adulthood) HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Nephrological diseases Blood diseases Immune diseases |
UniProtKB/Swiss-Prot
:
74
Hemolytic uremic syndrome atypical 4: An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease.
MalaCards based summary : Hemolytic Uremic Syndrome, Atypical 4, also known as hemolytic uremic syndrome, atypical, susceptibility to, 4, is related to atypical hemolytic uremic syndrome with b factor anomaly. An important gene associated with Hemolytic Uremic Syndrome, Atypical 4 is CFB (Complement Factor B). Affiliated tissues include kidney, and related phenotypes are hypertension and proteinuria |
Diseases in the Atypical Hemolytic Uremic Syndrome with C3 Anomaly family:Diseases related to Hemolytic Uremic Syndrome, Atypical 4 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 4:32 (show all 10)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:612924 |
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MalaCards organs/tissues related to Hemolytic Uremic Syndrome, Atypical 4:41
Kidney
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Articles related to Hemolytic Uremic Syndrome, Atypical 4:
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ClinVar genetic disease variations for Hemolytic Uremic Syndrome, Atypical 4:6
UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Uremic Syndrome, Atypical 4:74
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Search
GEO
for disease gene expression data for Hemolytic Uremic Syndrome, Atypical 4.
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