AHUS1
MCID: HML033
MIFTS: 66
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Hemolytic Uremic Syndrome, Atypical 1 (AHUS1)
Categories:
Blood diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Hemolytic Uremic Syndrome, Atypical 1:
Name: Hemolytic Uremic Syndrome, Atypical 1
57
Characteristics:Orphanet epidemiological data:59
atypical hemolytic-uremic syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (United States),1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;
typical hemolytic-uremic syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (United States); Age of onset: All ages; OMIM:57
Inheritance:
autosomal recessive autosomal dominant
Miscellaneous:
diarrhea-associated (d+hus), occurs in children younger than 3 years, associated with verotoxin-producing e. coli (90% of patients) (typical hus) d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses d-hus is usually familial phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, ) may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents HPO:32
hemolytic uremic syndrome, atypical 1:
Inheritance autosomal recessive inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Nephrological diseases Blood diseases Immune diseases
ICD10:
34
External Ids:
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NIH Rare Diseases
:
53
Atypical hemolytic uremic syndrome (aHUS) is a disease that causes abnormal blood clots to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow, including hemolytic anemia, thrombocytopenia, and kidney failure. It can occur at any age and is often caused by a combination of environmental and genetic factors. Genetic factors involve genes that code for proteins that help control the complement system (part of your body�??s immune system). Environmental factors include certain medications (such as anticancer drugs), chronic diseases (e.g., systemic sclerosis and malignant hypertension), viral or bacterial infections, cancers, organ transplantation, and pregnancy. In about 60% of aHUS, a gene mutation may be identified. The genes associated with genetic aHUS include C3, CD46 (MCP), CFB, CFH, CFHR1, CFHR3, CFHR4, CFI, DGKE, and THBD. Mutations in these genes increase the likelihood (predisposition) to developing aHUS, rather than directly causing the disease. Most cases are sporadic. In familiar cases, predisposition to aHUS is inherited in an autosomal dominant or an autosomal recessive pattern of inheritance.
Atypical hemolytic uremic syndrome differs from a more common condition called typical hemolytic uremic syndrome. The two disorders have different causes and different signs and symptoms.
MalaCards based summary : Hemolytic Uremic Syndrome, Atypical 1, also known as atypical hemolytic uremic syndrome, is related to complement factor h deficiency and nephrotic syndrome, type 7. An important gene associated with Hemolytic Uremic Syndrome, Atypical 1 is CFH (Complement Factor H), and among its related pathways/superpathways are Complement and coagulation cascades and Creation of C4 and C2 activators. Affiliated tissues include kidney, liver and bone, and related phenotypes are proteinuria and thrombocytopenia Disease Ontology : 12 A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. Genetics Home Reference : 25 Atypical hemolytic-uremic syndrome is a disease that primarily affects kidney function. This condition, which can occur at any age, causes abnormal blood clots (thrombi) to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow. Atypical hemolytic-uremic syndrome is characterized by three major features related to abnormal clotting: hemolytic anemia, thrombocytopenia, and kidney failure. OMIM : 57 Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. (235400) UniProtKB/Swiss-Prot : 75 Hemolytic uremic syndrome atypical 1: 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. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:235400Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 1:59 32 (show all 31)
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MalaCards organs/tissues related to Hemolytic Uremic Syndrome, Atypical 1:41
Kidney,
Liver,
Bone,
Heart,
Pancreas,
Myeloid,
Bone Marrow
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Articles related to Hemolytic Uremic Syndrome, Atypical 1:(show top 50) (show all 478)
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UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Uremic Syndrome, Atypical 1:75 (show all 31)
ClinVar genetic disease variations for Hemolytic Uremic Syndrome, Atypical 1:6 (show top 50) (show all 662)
Copy number variations for Hemolytic Uremic Syndrome, Atypical 1 from CNVD:7
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Search
GEO
for disease gene expression data for Hemolytic Uremic Syndrome, Atypical 1.
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Pathways related to Hemolytic Uremic Syndrome, Atypical 1 according to KEGG:37
Pathways related to Hemolytic Uremic Syndrome, Atypical 1 according to GeneCards Suite gene sharing:
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Cellular components related to Hemolytic Uremic Syndrome, Atypical 1 according to GeneCards Suite gene sharing:
Biological processes related to Hemolytic Uremic Syndrome, Atypical 1 according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to Hemolytic Uremic Syndrome, Atypical 1 according to GeneCards Suite gene sharing:
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