Atypical hemolytic uremic syndrome with complement gene abnormality

Summary

Atypical hemolytic uremic syndrome with complement gene abnormality (MONDO:0035290) is a disease (an umbrella term covering 5 Mondo subtypes). A subtype of atypical hemolytic-uremic syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Europe) [Orphanet-validated]
• Umbrella term: 5 Mondo subtypes

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	atypical hemolytic uremic syndrome with complement gene abnormality
Mondo ID	MONDO:0035290
Orphanet	544472
ICD-10-CM	D58.8
UMLS	C5680166
MedGen	1842625
GARD	0017986
Is cancer (heuristic)	no

Also known as: aHUS with complement gene abnormality · Atypical HUS with complement gene abnormality

Disease family

This is a subtype of atypical hemolytic-uremic syndrome. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › syndromic disease › atypical hemolytic-uremic syndrome › atypical hemolytic uremic syndrome with complement gene abnormality

Related subtypes (3): atypical hemolytic-uremic syndrome with DGKE deficiency, atypical hemolytic-uremic syndrome with H factor anomaly, atypical hemolytic-uremic syndrome with anti-factor H antibodies

Subtypes (5): atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, atypical hemolytic-uremic syndrome with I factor anomaly, atypical hemolytic-uremic syndrome with B factor anomaly, atypical hemolytic-uremic syndrome with C3 anomaly, atypical hemolytic-uremic syndrome with thrombomodulin anomaly

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.