raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:2134

Atypical hemolytic uremic syndrome

Synonyms: Atypical HUS · aHUS

Type
Disease
Group
Disorder
Inheritance
Autosomal dominant, Autosomal recessive, Not applicable
Age of onset
All ages
Status
active

A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enAtypical hemolytic uremic syndromeAtypical HUS · aHUS
frSyndrome hémolytique et urémique atypiqueSHU atypique · SHUa
deHämolytisch-urämisches Syndrom, atypische FormAtypisches HUS · aHUS
esSíndrome hemolítico urémico atípicoSHUa
itSindrome emolitico-uremica atipicaD-HUS · HUS atipica · Sindrome emolitico-uremica senza diarrea · aHUS
nlAtypisch hemolytisch-uremisch syndroomAtypisch HUS · aHUS
ptSíndrome hemolítico urémico forma atípica
plAtypowy zespół hemolityczno-mocznicowyaHUS · Atypowy HUS · D-HUS · Zespół hemolityczno-mocznicowy bez biegunki
csHemolyticko-uremický syndrom, atypické formyAtypické formy HUS · D- HUS · aHUS · Hemolyticko-uremický syndrom bez průjmu
ukАтиповий гемолітико-уремічний синдромaHUS · Нетиповий HUS
zh非典型溶血尿毒综合征非典型HUS
trAtipik hemolitik üremik sendromaHÜS · Atipik HÜS

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM235400BTNTvalidated
OMIM609814BTNTvalidated
OMIM612922BTNTvalidated
OMIM612923BTNTvalidated
OMIM612924BTNTvalidated
OMIM612925BTNTvalidated
OMIM612926BTNTvalidated
OMIM615008BTNTvalidated
ICD-10D59.3NTBTattributedvalidated
ICD-113A10.YNTBTindexvalidated
MONDO0016244Evalidated
MeSHD065766Evalidated
UMLSC2931788Evalidated
GARD8702Evalidated
MedDRA10079840Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

Children (2):

4

Genes

0 direct · 6 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

GeneSubtypeAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
THBDORPHA:544472Atypical hemolytic uremic syndrome with complement gene abnormalityCandidate gene tested inNot yet assessedHGNC:11784ENSG0000017872618804020p11.21thrombomodulin20301541[PMID]
C3ORPHA:544472Atypical hemolytic uremic syndrome with complement gene abnormalityDisease-causing germline mutation(s) inAssessedHGNC:1318ENSG0000012573012070019p13.3complement C320301541[PMID]
CD46ORPHA:544472Atypical hemolytic uremic syndrome with complement gene abnormalityDisease-causing germline mutation(s) inAssessedHGNC:6953ENSG000001173351209201q32.2CD46 molecule20301541[PMID]
CFBORPHA:544472Atypical hemolytic uremic syndrome with complement gene abnormalityDisease-causing germline mutation(s) inAssessedHGNC:1037ENSG000002436491384706p21.33complement factor B20301541[PMID]
CFHORPHA:544472Atypical hemolytic uremic syndrome with complement gene abnormalityDisease-causing germline mutation(s) inAssessedHGNC:4883ENSG000000009711343701q31.3complement factor H20301541[PMID]
CFIORPHA:544472Atypical hemolytic uremic syndrome with complement gene abnormalityDisease-causing germline mutation(s) inAssessedHGNC:5394ENSG000002054032170304q25complement factor I20301541[PMID]
5

Prevalence and incidence

3 records
TypeClassValueAreaQualificationValidationSource
Annual incidence1-9 / 1 000 0000.2 / 100 000United StatesValue and classValidated15168377[PMID]_21902819[PMID]
Point prevalence1-9 / 100 0001 / 100 000EuropeValue and classValidatedEuropean Medicines Agency 2015[OTHER]
Point prevalence<1 / 1 000 0000.0278 / 100 000ChinaValue and classValidated34103049[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

13 annotations · validated 2017-03-24
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0045040Abnormal lactate dehydrogenase activity
HP:0001871Abnormality of blood and blood-forming tissues
HP:0001939Abnormality of metabolism/homeostasis
HP:0001919Acute kidney injury
HP:0000790Hematuria
HP:0001937Microangiopathic hemolytic anemia
HP:0000093Proteinuria
HP:0001873Thrombocytopenia
Frequent (79-30%)
HP:0005339Abnormality of complement system
HP:0004431Complement deficiency
HP:0040229Decreased level of thrombomodulin
HP:0005416Decreased serum complement factor B
HP:0005356Decreased serum complement factor I

Run the differential on the 8 obligate / very frequent terms

Annotation source: 27422619[PMID]_24548192[PMID]

7

Sources for this card