Genopathy
Gene-Disorder Association · Article
Gene
C1RL
Complement C1r Subcomponent Like
Disorder
Ehlers-Danlos Syndrome, Periodontal Type, 1
First reported 1977
Key publication · disorder A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis.Birth defects original article series · 1977
Manually curated
Association Review

In brief

The association between C1RL (Complement C1r Subcomponent Like) and Ehlers-Danlos Syndrome, Periodontal Type, 1 is a manually-curated gene–disease association, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 1
Symptoms 66
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
C1RL

The gene

1 source summary

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

Request access
04
Ehlers-Danlos Syndrome, Periodontal Type, 1

The disorder

8 database identifiers

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

Request access
05
Phenotype

Clinical features

31 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

1 clinical variant

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

Request access
07
Provenance

References & sources

5 references

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

Request access