Atypical hemolytic uremic syndrome with thrombomodulin anomaly

General Information (adopted from Orphanet):

Synonyms, Signs: AHUS, SUSCEPTIBILITY TO, 6
AHUS6
Atypical HUS with thrombomodulin anomaly
Hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly
D-HUS with thrombomodulin anomaly
aHUS with thrombomodulin anomaly
Number of Symptoms 16
OrphanetNr: 217023
OMIM Id: 612926
ICD-10: D58.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

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:0000093) Proteinuria 169 / 7739
5
 (HPO:0001919) Acute kidney injury 21 / 7739
6
 (HPO:0000822) Hypertension variable [HPO:skoehler] 224 / 7739
7
 (HPO:0001937) Microangiopathic hemolytic anemia 12 / 7739
8
 (HPO:0001873) Thrombocytopenia 224 / 7739
9
 (HPO:0001903) Anemia 289 / 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) Decreased or normal serum C3 5 / 7739
15
 (OMIM) Fragmented erythrocytes 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 Delvaeye et al. (2009) reported 7 patients with atypical hemolytic uremic syndrome characterized by 1 or more episodes of microangiopathic hemolytic anemia and thrombocytopenia associated with acute renal failure. Four patients had decreased serum C3 (120700), consistent with ...
Molecular genetics OMIM In 7 (4.6%) of 153 patients with aHUS, Delvaeye et al. (2009) identified 6 different heterozygous mutations in the THBD gene (see, e.g., 188040.0005-188040.0008). In vitro functional expression studies showed that cells transfected with mutant THBD were less ...