Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1; Ahus1

Description

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. Genetic Heterogeneity of Atypical Hemolytic Uremic SyndromeAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system (Jozsi et al., 2008). See AHUS2 (OMIM ), AHUS3 (OMIM ), AHUS4 (OMIM ), AHUS5 (OMIM ), and AHUS6 (OMIM ). AHUS7 (see {615008}) is caused by mutation in the DGKE gene (OMIM ), which is not part of the complement cascade system.

Clinical Features

Top most frequent phenotypes and symptoms related to Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1; Ahus1

  • Seizures
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Fever
  • Cardiomyopathy
  • Edema
  • Diarrhea
  • Renal insufficiency
  • Abnormality of metabolism/homeostasis

And another 31 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 have a estimated prevalence of 1 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1; Ahus1 Is also known as ahus, susceptibility to, 1.

Researches and researchers

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Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1; Ahus1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Test for CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

CFH
Specificity
100 %
Genes
34 %
Test for CFH-Related Atypical Hemolytic-Uremic Syndrome.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

CFH
Specificity
100 %
Genes
34 %
AHUS/MPGN panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

CFB, THBD, C3, APLN, CFHR5, CFH, CFI, CD46
Specificity
13 %
Genes
34 %
Genetic Renal Panel.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States).

CFB, THBD, C3, ADAMTS13, CFHR3, MMACHC, CFHR5, DGKE, CFH, CFHR1, CFI, CD46, PLG
Specificity
24 %
Genes
100 %
Atypical Hemolytic Uremic Syndrome (aHUS) Genetic Susceptibility Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

CFB, THBD, C3, CFHR3, CFHR5, DGKE, CFH, CFHR1, CFI, CD46
Specificity
30 %
Genes
100 %
CFH Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

CFH
Specificity
100 %
Genes
34 %
Thrombocytopenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

CFB, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, RUNX1T1, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...)

View the complete list with 23 more genes
Specificity
7 %
Genes
100 %
Thrombocytopenia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

CFB, RUNX1, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...)

View the complete list with 23 more genes
Specificity
7 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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