ORPHA:90321
Cockayne syndrome type 1
Synonyms: Cockayne syndrome type I
- 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| Lang | Name | Synonyms |
|---|---|---|
| en | Cockayne syndrome type 1 | Cockayne syndrome type I |
| fr | Syndrome de Cockayne type 1 | Syndrome de Cockayne type I |
| de | Cockayne-Syndrom Typ 1 | Cockayne-Syndrom Typ I |
| es | Síndrome de Cockayne tipo 1 | Síndrome de Cockayne tipo I |
| it | Sindrome di Cockayne, tipo 1 | Sindrome di Cockayne, tipo I |
| nl | Syndroom van Cockayne type 1 | Syndroom van Cockayne type I |
| pt | Síndrome Cockayne tipo 1 | Síndrome Cockayne tipo I |
| pl | Zespół Cockayne'a typu 1 | Zespół Cockayne'a typu I |
| cs | Cockayneův syndrom, typ 1 | Cockayneův syndrom, typ I |
| uk | Синдром Кокейна, тип 1 | Синдром Кокейна, тип I |
| zh | 科凯恩综合征1型 | 科凯恩综合征I型 |
| tr | Cockayne sendromu tip 1 | Cockayne sendromu tip I |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 133540 | BTNT | validated | |
| OMIM | 216400 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2B | NTBT | index | validated |
| MONDO | 0019569 | E | validated | |
| UMLS | C0751039 | E | validated | |
| GARD | 1415 | 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 (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| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ERCC6 | 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] |
| ERCC4 | Disease-causing germline mutation(s) in | Assessed | HGNC:3436 | ENSG00000175595 | 133520 | 16p13.12 | ERCC excision repair 4, endonuclease catalytic subunit | 23623389[PMID] |
| ERCC8 | 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
0 recordsNo prevalence record in this release.
6
HPO phenotypes
58 annotations · validated 2020-09-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0004463 | Absent brainstem auditory responses | |
| HP:0002135 | Basal ganglia calcification | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0000490 | Deeply set eye | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001508 | Failure to thrive | |
| HP:0008366 | Foot joint contracture | |
| HP:0000365 | Hearing impairment | |
| HP:0001249 | Intellectual disability | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0008897 | Postnatal growth retardation | |
| Frequent (79-30%) | ||
| HP:0003134 | Abnormality of peripheral nerve conduction | |
| HP:0004370 | Abnormality of temperature regulation | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001251 | Ataxia | |
| HP:0000518 | Cataract | |
| HP:0000633 | Decreased lacrimation | |
| HP:0002014 | Diarrhea | |
| HP:0001288 | Gait disturbance | |
| HP:0001288 | Gait disturbance | |
| HP:0001347 | Hyperreflexia | |
| HP:0000822 | Hypertension | |
| HP:0000966 | Hypohidrosis | |
| HP:0003138 | Increased blood urea nitrogen | |
| HP:0000276 | Long face | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000648 | Optic atrophy | |
| HP:0002172 | Postural instability | |
| HP:0005328 | Progeroid facial appearance | |
| HP:0000093 | Proteinuria | |
| HP:0002650 | Scoliosis | |
| HP:0001337 | Tremor | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0001903 | Anemia | |
| HP:0000674 | Anodontia | |
| HP:0000528 | Anophthalmia | |
| HP:0000509 | Conjunctivitis | |
| HP:0000680 | Delayed eruption of primary teeth | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0002240 | Hepatomegaly | |
| HP:0001034 | Hypermelanotic macule | |
| HP:0006334 | Hypoplasia of the primary teeth | |
| HP:0001252 | Hypotonia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0000400 | Macrotia | |
| HP:0000639 | Nystagmus | |
| HP:0000613 | Photophobia | |
| HP:0000083 | Renal insufficiency | |
| HP:0100699 | Scarring | |
| HP:0001250 | Seizure | |
| HP:0000331 | Short chin | |
| HP:0002360 | Sleep abnormality | |
| HP:0000486 | Strabismus | |
| HP:0000554 | Uveitis | |
| HP:0006313 | Widely spaced primary teeth | |
| Very rare (<4-1%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0000026 | Male hypogonadism | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 25851792[PMID]_30252254[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90321
- This record as JSON: /data/d/90321.json