Information on aHUS1

Basic details

Name: Hemolytic uremic syndrome, atypical, 1 | Acronym: aHUS1
Alt. names: hemolytic-uremic syndrome

Gene: CFH | MOI: Autosomal inheritance | Mechanism of action:

No. of cases in DB: 0 | First reported in: 1997

Last updated on: 2023-05-17 17:25:50 by

OMIM: 235400

Orphanet: -

MONDO: 0001549

DOID: -

ClinGen:

Description

In hemolytic-uremic syndrome, the choice of specific treatment modalities (eg, danazol, plasma exchange, plasma therapy), as well as decision to perform renal transplant, may be dictated by genetic diagnosis, and certain agents/precipitating factors should be avoided (eg, certain medications); In Complement factor H deficiency, antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Refs. PMIDs: 646435; 6461667; 2950269; 2966809; 7742208; 9312129; 2966809; 9811382; 9848786; 9551389; 10577907; 10975323; 10762557; 0803850; 11170895; 14583443; 12697737; 14978182; 14583443; 16299065; 16621965; 16612335; 17018561; 18268093; 21784901

Management

Description of management option has not been reviewed yet.

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0 reported cases added to GenIA

SubjectID Sex Fam.ID AD AFM Validity Country Population Reference & Pub.code

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank Clinical term Present Absent Unreported

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Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ Responses & clinical indications

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