Preferred Name

Atypical hemolytic uremic syndrome

ID

http://www.orpha.net/ORDO/Orphanet_2134

alternative_term

aHUS

Atypical HUS

definition

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.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2134

has_age_of_onset

All ages

has_inheritance

Autosomal recessive

Not applicable

Autosomal dominant

hasDbXref

OMIM:612926

OMIM:612924

OMIM:612922

MeSH:C538266

ICD-10:D59.3

OMIM:615008

OMIM:609814

UMLS:C2931788

OMIM:612925

OMIM:235400

ICD-11:3A10.Y

OMIM:612923

label

Atypical hemolytic uremic syndrome

notation

ORPHA:2134

part_of

http://www.orpha.net/ORDO/Orphanet_544458

http://www.orpha.net/ORDO/Orphanet_576742

prefixIRI

ORDO:Orphanet_2134

prefLabel

Atypical hemolytic uremic syndrome

present_in

Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000

United States AND has_annual_incidence_average_value : 0.2 AND has_annual_incidence_range : 1-9 / 1 000 000

China AND has_point_prevalence_average_value : 0.0278 AND has_point_prevalence_range : <1 / 1 000 000

treeView

http://www.orpha.net/ORDO/Orphanet_544458

http://www.orpha.net/ORDO/Orphanet_576742

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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