Atypical hemolytic uremic syndrome with B factor anomaly

General Information (adopted from Orphanet):

Synonyms, Signs: AHUS, SUSCEPTIBILITY TO, 4
AHUS4
Hemolytic-uremic syndrome without diarrhea with B factor anomaly
Atypical HUS with B factor anomaly
D-HUS with B factor anomaly
aHUS with B factor anomaly
Number of Symptoms 18
OrphanetNr: 93578
OMIM Id: 612924
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:0000093) Proteinuria 169 / 7739
2
 (HPO:0000790) Hematuria 106 / 7739
3
 (HPO:0100519) Anuria 20 / 7739
4
 (HPO:0001919) Acute kidney injury 21 / 7739
5
 (HPO:0005575) Hemolytic-uremic syndrome 11 / 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
 (OMIM) Decreased or normal serum factor I 2 / 7739
13
 (OMIM) Decreased or normal serum factor B 2 / 7739
14
 (MedDRA:10043645) Thrombotic microangiopathy 11 / 7739
15
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
 (OMIM) Fragmented erythrocytes 5 / 7739
17
 (OMIM) Decreased or normal serum C3 5 / 7739
18
 (OMIM) Defective complement regulation 8 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Carreras et al. (1981) reported a Spanish family in which 3 individuals, aged between 15 months and 34 years, developed aHUS. Histologic examination showed microangiopathy. The disorder showed recurrence and was associated with persistent hypocomplementemia, decreased serum C3 ...
Molecular genetics OMIM In affected members of a large Spanish kindred with atypical hemolytic uremic syndrome-4 (Carreras et al., 1981), Goicoechea de Jorge et al. (2007) identified a heterozygous mutation in the CFB gene (F286L; 138470.0005) that segregated with low levels ...