Atypical hemolytic uremic syndrome with C3 anomaly

General Information (adopted from Orphanet):

Synonyms, Signs: AHUS, SUSCEPTIBILITY TO, 5
AHUS5
D-HUS with C3 anomaly
Atypical HUS with C3 anomaly
aHUS with C3 anomaly
Hemolytic-uremic syndrome without diarrhea with C3 anomaly
Number of Symptoms 16
OrphanetNr: 93575
OMIM Id: 612925
ICD-10: D58.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Atypical hemolytic uremic syndrome
 -Rare genetic disease
 -Rare hematologic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000790) Hematuria 106 / 7739
2
 (HPO:0005575) Hemolytic-uremic syndrome 11 / 7739
3
 (HPO:0100519) Anuria 20 / 7739
4
 (HPO:0001919) Acute kidney injury 21 / 7739
5
 (HPO:0000093) Proteinuria 169 / 7739
6
 (HPO:0000822) Hypertension variable [HPO:skoehler] 224 / 7739
7
 (HPO:0001873) Thrombocytopenia 224 / 7739
8
 (HPO:0001903) Anemia 289 / 7739
9
 (HPO:0001937) Microangiopathic hemolytic anemia 12 / 7739
10
 (HPO:0003259) Elevated serum creatinine 31 / 7739
11
 (HPO:0003138) Increased blood urea nitrogen 14 / 7739
12
 (MedDRA:10043645) Thrombotic microangiopathy 11 / 7739
13
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
 (OMIM) Fragmented erythrocytes 5 / 7739
15
 (OMIM) Decreased or normal serum C3 5 / 7739
16
 (OMIM) Defective complement regulation 8 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Fremeaux-Bacchi et al. (2008) reported 11 probands with atypical HUS. Further pedigree analysis showed that 1 proband had 2 additional affected family members and another had 1 additional affected family member. Age at onset ranged from 8 months ...
Molecular genetics OMIM In 11 probands with atypical HUS, Fremeaux-Bacchi et al. (2008) identified 9 different heterozygous mutations in the C3 gene (see, e.g., 120700.0005-120700.0008). Five of the mutations resulted in a gain of function with resistance to degradation by MCP ...