Cockayne syndrome type 1
Findings
No curated finding names Cockayne syndrome type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8.
Definition from the Mondo Disease Ontology (MONDO:0019569), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Fetal onset
HPO, annotations 2026-09-02
Features
72 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CataractHPOHP:0000518
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient · Male
- Very rare (1% to 4% of cases)
- Enamel hypoplasiaHPOHP:0006297
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Failure to thriveHPOHP:0001508
- 8 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
Show the remaining 60
- Deeply set eyeHPOHP:0000490
- 11 of 12 reported patients
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- 11 of 12 reported patients
- Cutaneous photosensitivityHPOHP:0000992
- 8 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Absent brainstem auditory responsesHPOHP:0004463
- Very frequent (80% to 99% of cases)
- Basal ganglia calcificationHPOHP:0002135
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ERCC8HGNC:3439
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: Cockayne syndrome type 1
- Also called
- Cockayne syndrome ACockayne syndrome caused by mutation in ERCC8Cockayne syndrome type aCockayne syndrome type ICockayne syndrome, type AERCC8 Cockayne syndrome