Table B. [OMIM Entries for Genetic Atypical Hemolytic-Uremic Syndrome (View All in OMIM)]. - GeneReviews® - NCBI Bookshelf

Warning: The NCBI web site requires JavaScript to function. more...

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

Cover of GeneReviews®

GeneReviews^® [Internet].

GeneReviews by Title

Table B.

OMIM Entries for Genetic Atypical Hemolytic-Uremic Syndrome (View All in OMIM)

120700	COMPLEMENT COMPONENT 3; C3
120920	CD46 ANTIGEN; CD46
134370	COMPLEMENT FACTOR H; CFH
134371	COMPLEMENT FACTOR H-RELATED 1; CFHR1
138470	COMPLEMENT FACTOR B; CFB
188040	THROMBOMODULIN; THBD
193190	VITRONECTIN; VTN
217030	COMPLEMENT FACTOR I; CFI
235400	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1
601440	DIACYLGLYCEROL KINASE, EPSILON, 64-KD; DGKE
605336	COMPLEMENT FACTOR H-RELATED 3; CFHR3
605337	COMPLEMENT FACTOR H-RELATED 4; CFHR4
612922	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2
612923	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3; AHUS3
612924	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4; AHUS4
612925	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5; AHUS5
612926	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6; AHUS6

From: Genetic Atypical Hemolytic-Uremic Syndrome

Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

GeneReviews by Title

Views

Cite this Page
Noris M, Bresin E, Mele C, et al. Genetic Atypical Hemolytic-Uremic Syndrome. 2007 Nov 16 [Updated 2021 Sep 23]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Table B. [OMIM Entries for Genetic Atypical Hemolytic-Uremic Syndrome (View All in OMIM)].
PDF version of this page (607K)

Bulk Download

Bulk download GeneReviews data from FTP

GeneReviews Links

Related information

OMIM
Related OMIM records

Similar articles in PubMed

Molecular Studies and an ex vivo Complement Assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Variant.[Front Med (Lausanne). 2020]
Molecular Studies and an ex vivo Complement Assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Variant.
Piras R, Iatropoulos P, Bresin E, Todeschini M, Gastoldi S, Valoti E, Alberti M, Mele C, Galbusera M, Cuccarolo P, et al. Front Med (Lausanne). 2020; 7:579418. Epub 2020 Nov 3.
[Atypical hemolytic-uremic syndrome related to abnormalities within the complement system].[Rev Med Interne. 2011]
[Atypical hemolytic-uremic syndrome related to abnormalities within the complement system].
Frémeaux-Bacchi V, Fakhouri F, Roumenina L, Dragon-Durey MA, Loirat C. Rev Med Interne. 2011 Apr; 32(4):232-40. Epub 2011 Mar 3.
Review C3 Glomerulopathy.[GeneReviews(®). 1993]
Review C3 Glomerulopathy.
Martín B, Smith RJH. GeneReviews(®). 1993
Review Atypical hemolytic uremic syndrome.[Orphanet J Rare Dis. 2011]
Review Atypical hemolytic uremic syndrome.
Loirat C, Frémeaux-Bacchi V. Orphanet J Rare Dis. 2011 Sep 8; 6:60. Epub 2011 Sep 8.
Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS.[Front Immunol. 2019]
Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS.
Valoti E, Alberti M, Iatropoulos P, Piras R, Mele C, Breno M, Cremaschi A, Bresin E, Donadelli R, Alizzi S, et al. Front Immunol. 2019; 10:853. Epub 2019 May 1.

See reviews...See all...

Recent Activity

Clear Turn Off Turn On

Table B. [OMIM Entries for Genetic Atypical Hemolytic-Uremic Syndrome (View All ...
Table B. [OMIM Entries for Genetic Atypical Hemolytic-Uremic Syndrome (View All in OMIM)]. - GeneReviews®
CD46[gene] (375)
ClinVar

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on