Genopathy
Gene-Disorder Association · Article
Gene
ERCC3
ERCC Excision Repair 3, TFIIH Core Complex Helicase 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 ERCC3 (ERCC Excision Repair 3, TFIIH Core Complex Helicase 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.

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02
Provenance

Evidence and sources

1 source

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

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03
ERCC3

The gene

1 source summary

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

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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).

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05
Phenotype

Clinical features

51 clinical features

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

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06
Mechanism overlap

Shared mechanisms

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

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07
Provenance

References & sources

7 references

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

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