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Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature

Summary

Atypical hemolytic uremic syndrome-8 with rhizomelic short stature (AHUS8) is an X-linked disorder with variable manifestations. The age at onset of renal symptoms is variable, ranging from infancy to the early twenties. Features of atypical hemolytic uremic syndrome (aHUS) include acute renal dysfunction with proteinuria, thrombotic microangiopathy, anemia, thrombocytopenia, increased serum lactate dehydrogenase (LDH), and schistocytes on peripheral blood smear. Affected individuals also have short stature with short limbs. More variable features include immunodeficiency with recurrent infections, developmental delay, and dysmorphic features. Treatment with C5 inhibitors results in improvement of renal function. Female carriers may show an attenuated phenotype (Hadar et al., 2023; Erger et al., 2023). For a discussion of genetic heterogeneity of aHUS, see AHUS1 (235400). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: AHUS8, C1GALT2, C38H2-L1, COSMC, HSPC067, MST143, TNPS, C1GALT1C1
    Summary: C1GALT1 specific chaperone 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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