Genopathy
Gene-Disorder Association · Article
Gene
ERCC8
ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit
Disorder
Cutis Laxa, Autosomal Recessive, Type Iiia
First reported 1968
Key publication · disorder Dwarfism, oligophrenia and degeneration of the elastic tissue in skin and cornea. A new syndrome?Helvetica paediatrica acta · 1968
Manually curated
Association Review

In brief

The association between ERCC8 (ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit) and Cutis Laxa, Autosomal Recessive, Type Iiia is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 79
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
ERCC8

The gene

1 source summary

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

Request access
04
Cutis Laxa, Autosomal Recessive, Type Iiia

The disorder

15 database identifiers

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

Request access
05
Phenotype

Clinical features

51 clinical features

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

Request access
06
Mechanism overlap

Shared mechanisms

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

Request access
07
Provenance

References & sources

7 references

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

Request access