ORPHA:191
Cockayne syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cockayne syndrome | |
| fr | Syndrome de Cockayne | |
| de | Cockayne-Syndrom | |
| es | Síndrome de Cockayne | |
| it | Sindrome di Cockayne | |
| nl | Syndroom van Cockayne | |
| pt | Síndrome Cockayne | |
| pl | Zespół Cockayne | |
| cs | Cockayneův syndrom | |
| uk | Синдром Кокейна | |
| zh | 科凯恩综合征 | |
| tr | Cockayne sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 133540 | BTNT | validated | |
| OMIM | 214150 | BTNT | validated | |
| OMIM | 216400 | BTNT | validated | |
| OMIM | 278780 | BTNT | validated | |
| OMIM | 610756 | BTNT | validated | |
| OMIM | 610758 | BTNT | validated | |
| OMIM | 616570 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | inclusion | validated |
| ICD-11 | LD2B | NTBT | index | validated |
| MONDO | 0016006 | E | validated | |
| MeSH | D003057 | E | validated | |
| UMLS | C0009207 | E | validated | |
| GARD | 6122 | E | validated | |
| MedDRA | 10009835 | E | validated |
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 (11):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:363245Genetic progeroid syndrome
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:79389Premature aging
rare genetic diseases; rare skin diseases - ORPHA:139033Progeroid syndrome
rare developmental anomalies during embryogenesis - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
4
Genes
0 direct · 12 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| ERCC6 | ORPHA:90321Cockayne syndrome type 1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3438 | ENSG00000225830 | 609413 | 10q11.23 | ERCC excision repair 6, chromatin remodeling factor | 20301516[PMID] |
| ERCC6 | ORPHA:90322Cockayne syndrome type 2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3438 | ENSG00000225830 | 609413 | 10q11.23 | ERCC excision repair 6, chromatin remodeling factor | 20301516[PMID] |
| ERCC6 | ORPHA:90324Cockayne syndrome type 3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3438 | ENSG00000225830 | 609413 | 10q11.23 | ERCC excision repair 6, chromatin remodeling factor | 20301516[PMID] |
| ERCC1 | ORPHA:1466COFS syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:3433 | ENSG00000012061 | 126380 | 19q13.32 | ERCC excision repair 1, endonuclease non-catalytic subunit | 17273966[PMID] |
| ERCC1 | ORPHA:90322Cockayne syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3433 | ENSG00000012061 | 126380 | 19q13.32 | ERCC excision repair 1, endonuclease non-catalytic subunit | 23623389[PMID] |
| ERCC2 | ORPHA:1466COFS syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:3434 | ENSG00000104884 | 126340 | 19q13.32 | ERCC excision repair 2, TFIIH core complex helicase subunit | 11443545[PMID] |
| ERCC4 | ORPHA:90321Cockayne syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3436 | ENSG00000175595 | 133520 | 16p13.12 | ERCC excision repair 4, endonuclease catalytic subunit | 23623389[PMID] |
| ERCC5 | ORPHA:1466COFS syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:3437 | ENSG00000134899 | 133530 | 13q33.1 | ERCC excision repair 5, endonuclease | 24700531[PMID] |
| ERCC6 | ORPHA:1466COFS syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:3438 | ENSG00000225830 | 609413 | 10q11.23 | ERCC excision repair 6, chromatin remodeling factor | 20301516[PMID] |
| ERCC8 | ORPHA:90321Cockayne syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3439 | ENSG00000049167 | 609412 | 5q12.1 | ERCC excision repair 8, CSA ubiquitin ligase complex subunit | 20301516[PMID] |
| ERCC8 | ORPHA:90322Cockayne syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3439 | ENSG00000049167 | 609412 | 5q12.1 | ERCC excision repair 8, CSA ubiquitin ligase complex subunit | 20301516[PMID] |
| ERCC8 | ORPHA:90324Cockayne syndrome type 3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3439 | ENSG00000049167 | 609412 | 5q12.1 | ERCC excision repair 8, CSA ubiquitin ligase complex subunit | 20301516[PMID] |
5
Prevalence and incidence
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
| Prevalence at birth | <1 / 1 000 000 | 0.09 / 100 000 | Germany | Value and class | Validated | 18329345[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.18 / 100 000 | France | Value and class | Validated | 18329345[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 / 100 000 | Italy | Value and class | Validated | 18329345[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.45 / 100 000 | Netherlands | Value and class | Validated | 18329345[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 / 100 000 | United Kingdom | Value and class | Validated | 18329345[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
119 annotations · validated 2020-03-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000708 | Atypical behavior | |
| HP:0004326 | Cachexia | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0007266 | Cerebral dysmyelination | |
| HP:0001510 | Growth delay | |
| HP:0001268 | Mental deterioration | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0000253 | Progressive microcephaly | |
| HP:0000408 | Progressive sensorineural hearing impairment | |
| HP:0003510 | Severe short stature | |
| Frequent (79-30%) | ||
| HP:0012372 | Abnormal eye morphology | |
| HP:0001251 | Ataxia | |
| HP:0002135 | Basal ganglia calcification | |
| HP:0000670 | Carious teeth | |
| HP:0000518 | Cataract | |
| HP:0002059 | Cerebral atrophy | |
| HP:0002514 | Cerebral calcification | |
| HP:0100543 | Cognitive impairment | |
| HP:0002803 | Congenital contracture | |
| HP:0005781 | Contractures of the large joints | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0000490 | Deeply set eye | |
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0002461 | Dense calcifications in the cerebellar dentate nucleus | |
| HP:0011359 | Dry hair | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002213 | Fine hair | |
| HP:0001288 | Gait disturbance | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002171 | Gliosis | |
| HP:0001263 | Global developmental delay | |
| HP:0001757 | High-frequency sensorineural hearing impairment | |
| HP:0002545 | Patchy demyelination of subcortical white matter | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0100678 | Premature skin wrinkling | |
| HP:0007240 | Progressive gait ataxia | |
| HP:0000529 | Progressive visual loss | |
| HP:0003758 | Reduced subcutaneous adipose tissue | |
| HP:0000556 | Retinal dystrophy | |
| HP:0001250 | Seizure | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0007346 | Subcortical white matter calcifications | |
| Occasional (29-5%) | ||
| HP:0000481 | Abnormal cornea morphology | |
| HP:0006482 | Abnormal dental morphology | |
| HP:0000512 | Abnormal electroretinogram | |
| HP:0006483 | Abnormal number of teeth | |
| HP:0012211 | Abnormal renal physiology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0008197 | Absence of pubertal development | |
| HP:0002345 | Action tremor | |
| HP:0000522 | Alacrima | |
| HP:0000970 | Anhidrosis | |
| HP:0001284 | Areflexia | |
| HP:0002621 | Atherosclerosis | |
| HP:0008936 | Axial hypotonia | |
| HP:0000585 | Band keratopathy | |
| HP:0000444 | Convex nasal ridge | |
| HP:0012804 | Corneal ulceration | |
| HP:0000028 | Cryptorchidism | |
| HP:0000633 | Decreased lacrimation | |
| HP:0000680 | Delayed eruption of primary teeth | |
| HP:0000823 | Delayed puberty | |
| HP:0000689 | Dental malocclusion | |
| HP:0000519 | Developmental cataract | |
| HP:0002376 | Developmental regression | |
| HP:0000819 | Diabetes mellitus | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001288 | Gait disturbance | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0002240 | Hepatomegaly | |
| HP:0000540 | Hypermetropia | |
| HP:0001347 | Hyperreflexia | |
| HP:0000822 | Hypertension | |
| HP:0001276 | Hypertonia | |
| HP:0002149 | Hyperuricemia | |
| HP:0001265 | Hyporeflexia | |
| HP:0002540 | Inability to walk | |
| HP:0001249 | Intellectual disability | |
| HP:0002080 | Intention tremor | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0002808 | Kyphosis | |
| HP:0011527 | Lentiglobus | |
| HP:0002509 | Limb hypertonia | |
| HP:0025300 | Malar rash | |
| HP:0000616 | Miosis | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0000011 | Neurogenic bladder | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0000543 | Optic disc pallor | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0000613 | Photophobia | |
| HP:0011451 | Primary microcephaly | |
| HP:0000093 | Proteinuria | |
| HP:0000089 | Renal hypoplasia | |
| HP:0000083 | Renal insufficiency | |
| HP:0008043 | Retinal arteriolar constriction | |
| HP:0000546 | Retinal degeneration | |
| HP:0002650 | Scoliosis | |
| HP:0001257 | Spasticity | |
| HP:0001744 | Splenomegaly | |
| HP:0025403 | Stooped posture | |
| HP:0000486 | Strabismus | |
| HP:0002684 | Thickened calvaria | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0000020 | Urinary incontinence | |
| HP:0004934 | Vascular calcification | |
| HP:0001612 | Weak cry | |
| Very rare (<4-1%) | ||
| HP:0001344 | Absent speech | |
| HP:0006349 | Agenesis of permanent teeth | |
| HP:0000568 | Microphthalmia | |
| HP:0001105 | Retinal atrophy | |
| HP:0000573 | Retinal hemorrhage | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20301516[PMID]_27507608[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/191
- This record as JSON: /data/d/191.json