Hemolytic Uremic Syndrome, Atypical 1

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OMIM 57 235400 Disease Ontology 12 DOID:0080301 Orphanet 59 ORPHA2134 ORPHA90038 ORPHA93581 MESH via Orphanet 45 C538266 UMLS via Orphanet 74 C2931788 ICD10 via Orphanet 34 D58.8 D59.3

MedGen 42 C2749604 C1856143 MeSH 44 D006463 KEGG 37 H01434 SNOMED-CT via HPO 69 263681008 258211005 29738008 34436003 53298000 24184005 38341003 12393003 387778001 423902002 128613002 246545002 313307000 84757009 91175000 371632003 127377003 20022000 302215000 415116008 14350001000004108 14669001 46049004 51071000 386661006 50177009 385472000 267060006 62315008 20301004 55822004 166717003 111407006 2472002 386806002 more UMLS 73 C2931788 C1856143

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. The drugs Complement System Proteins and Complement Inactivating Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, endothelial and liver, and related phenotypes are proteinuria and thrombocytopenia

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.

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.

Disease Ontology : ¹² A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.

Clinical features from OMIM:

235400

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