Genopathy
Gene-Disorder Association · Article
Gene
C1GALT1C1
C1GALT1 Specific Chaperone 1
Disorder
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
First reported 2023
Supporting publications 2
Key publication · disorder Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.Proceedings of the National Academy of Sciences of the United States of America · 2023
Manually curated
Association Review

In brief

The association between C1GALT1C1 (C1GALT1 Specific Chaperone 1) and Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 3
Clinical variants 4
Symptoms 53
Compounds 0
Trials 0
Publications 2
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

3 sources

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

Request access
03
C1GALT1C1

The gene

1 source summary

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

Request access
04
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature

The disorder

6 database identifiers

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

Request access
05
Phenotype

Clinical features

27 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
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

2 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

7 references

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

Request access