raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:90322

Cockayne syndrome type 2

Synonyms: Cockayne syndrome type II

Type
Clinical subtype
Group
Subtype of disorder
Inheritance
Autosomal recessive
Age of onset
Antenatal, Infancy, Neonatal
Status
active

This disease is described under Cockayne syndrome

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enCockayne syndrome type 2Cockayne syndrome type II
frSyndrome de Cockayne type 2Syndrome de Cockayne type II
deCockayne-Syndrom Typ 2Cockayne-Syndrom Typ II
esSíndrome de Cockayne tipo 2Síndrome de Cockayne tipo II
itSindrome di Cockayne, tipo 2Sindrome di Cockayne, tipo II
nlSyndroom van Cockayne type 2Syndroom van Cockayne type II
ptSíndrome Cockayne tipo 2Síndrome Cockayne tipo II
plZespół Cockayne'a typu 2Zespół Cockayne'a typu II
csCockayneův syndrom, typ 2Cockayneův syndrom, typ II
ukСиндром Кокейна, тип 2Синдром Кокейна, тип II
zh科凯恩综合征2型科凯恩综合征II型
trCockayne sendromu tip 2Cockayne sendromu tip II
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM133540BTNTvalidated
OMIM216400BTNTvalidated
ICD-10Q87.8NTBTattributedvalidated
ICD-11LD2BNTBTindexvalidated
MONDO0019570Evalidated
UMLSC0751038Evalidated
GARD1420Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

  • ORPHA:191Cockayne syndrome
    rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare skin diseases; rare ophthalmic disorders; rare otorhinolaryngological diseases; rare neoplastic diseases

No children.

4

Genes

3 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
ERCC6Disease-causing germline mutation(s) (loss of function) inAssessedHGNC:3438ENSG0000022583060941310q11.23ERCC excision repair 6, chromatin remodeling factor20301516[PMID]
ERCC1Disease-causing germline mutation(s) inAssessedHGNC:3433ENSG0000001206112638019q13.32ERCC excision repair 1, endonuclease non-catalytic subunit23623389[PMID]
ERCC8Disease-causing germline mutation(s) inAssessedHGNC:3439ENSG000000491676094125q12.1ERCC excision repair 8, CSA ubiquitin ligase complex subunit20301516[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

41 annotations · validated 2020-09-21
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0001999Abnormal facial shape
HP:0001249Intellectual disability
HP:0001511Intrauterine growth retardation
HP:0012758Neurodevelopmental delay
HP:0002545Patchy demyelination of subcortical white matter
HP:0007346Subcortical white matter calcifications
Frequent (79-30%)
HP:0001251Ataxia
HP:0001288Gait disturbance
HP:0001288Gait disturbance
HP:0000276Long face
HP:0000303Mandibular prognathia
HP:0002172Postural instability
HP:0005328Progeroid facial appearance
Occasional (29-5%)
HP:0000674Anodontia
HP:0000528Anophthalmia
HP:0008936Axial hypotonia
HP:0000509Conjunctivitis
HP:0000680Delayed eruption of primary teeth
HP:0000519Developmental cataract
HP:0006297Enamel hypoplasia
HP:0008872Feeding difficulties in infancy
HP:0001371Flexion contracture
HP:0000365Hearing impairment
HP:0002240Hepatomegaly
HP:0001034Hypermelanotic macule
HP:0006334Hypoplasia of the primary teeth
HP:0002808Kyphosis
HP:0002509Limb hypertonia
HP:0002061Lower limb spasticity
HP:0000400Macrotia
HP:0000639Nystagmus
HP:0000613Photophobia
HP:0100699Scarring
HP:0002650Scoliosis
HP:0000331Short chin
HP:0000486Strabismus
HP:0000554Uveitis
HP:0000505Visual impairment
HP:0006313Widely spaced primary teeth
Very rare (<4-1%)
HP:0000028Cryptorchidism
HP:0000026Male hypogonadism

Run the differential on the 6 obligate / very frequent terms

Annotation source: 20301516[PMID]_30252254[PMID]

7

Sources for this card