Genopathy
Gene-Disorder Association · Article
Gene
CFHR2
Complement Factor H Related 2
Disorder
Atypical Hemolytic-Uremic Syndrome
First reported 1977
Key publication · disorder Hemoglobin Mizuho or beta 68 (E 12) leucine leads to proline, a new unstable variant associated with severe hemolytic anemia.Hemoglobin · 1977
Manually curated
Association Review

In brief

The association between CFHR2 (Complement Factor H Related 2) and Atypical Hemolytic-Uremic Syndrome is reported, with clinical genetic testing available.

Sources 1
Clinical variants 4
Symptoms 17
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
CFHR2

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Atypical Hemolytic-Uremic Syndrome

The disorder

7 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

13 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

4 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Provenance

References & sources

6 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access