ORPHA:90324
Cockayne syndrome type 3
Synonyms: Cockayne syndrome type III
- 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 3 | Cockayne syndrome type III |
| fr | Syndrome de Cockayne type 3 | Syndrome de Cockayne type III |
| de | Cockayne-Syndrom Typ 3 | Cockayne-Syndrom Typ III |
| es | Síndrome de Cockayne tipo 3 | Síndrome de Cockayne tipo III |
| it | Sindrome di Cockayne, tipo 3 | Sindrome di Cockayne, tipo III |
| nl | Syndroom van Cockayne type 3 | Syndroom van Cockayne type 3 |
| pt | Cockayne syndrome type 3 | Síndrome Cockayne tipo III |
| pl | Zespół Cockayne'a typu 3 | Zespół Cockayne'a typu III |
| cs | Cockayneův syndrom, typ 3 | Cockayneův syndrom, typ III |
| uk | Синдром Кокейна, тип 3 | Синдром Кокейна, тип III |
| zh | 科凯恩综合征3型 | 科凯恩综合征III型 |
| tr | Cockayne sendromu tip 3 | Cockayne sendromu tip III |
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 | 0008998 | E | validated | |
| UMLS | C0751037 | E | validated | |
| GARD | 1417 | 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
2 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] |
| 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
74 annotations · validated 2020-09-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012447 | Abnormal myelination | |
| HP:0002446 | Astrocytosis | |
| HP:0002135 | Basal ganglia calcification | Diagnostic criterion |
| HP:0002461 | Dense calcifications in the cerebellar dentate nucleus | |
| HP:0007346 | Subcortical white matter calcifications | |
| Frequent (79-30%) | ||
| HP:0003134 | Abnormality of peripheral nerve conduction | |
| HP:0008615 | Adult onset sensorineural hearing impairment | |
| HP:0001284 | Areflexia | |
| HP:0012444 | Brain atrophy | |
| HP:0012762 | Cerebral white matter atrophy | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0004302 | Functional motor deficit | |
| HP:0001288 | Gait disturbance | |
| HP:0001347 | Hyperreflexia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002080 | Intention tremor | |
| HP:0000011 | Neurogenic bladder | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0005181 | Premature coronary artery atherosclerosis | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0002317 | Unsteady gait | |
| HP:0004934 | Vascular calcification | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000670 | Carious teeth | |
| HP:0000518 | Cataract | |
| HP:0100543 | Cognitive impairment | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000490 | Deeply set eye | |
| HP:0011359 | Dry hair | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002240 | Hepatomegaly | |
| HP:0000126 | Hydronephrosis | |
| HP:0000072 | Hydroureter | |
| HP:0000540 | Hypermetropia | |
| HP:0032263 | Increased blood pressure | |
| HP:0002808 | Kyphosis | |
| HP:0000400 | Macrotia | |
| HP:0001530 | Mild postnatal growth retardation | |
| HP:0000460 | Narrow nose | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0000639 | Nystagmus | |
| HP:0000613 | Photophobia | |
| HP:0002216 | Premature graying of hair | |
| HP:0000253 | Progressive microcephaly | |
| HP:0002344 | Progressive neurologic deterioration | |
| HP:0000083 | Renal insufficiency | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000331 | Short chin | |
| HP:0000486 | Strabismus | |
| HP:0000016 | Urinary retention | |
| Very rare (<4-1%) | ||
| HP:0002616 | Aortic root aneurysm | |
| HP:0001638 | Cardiomyopathy | |
| HP:0012804 | Corneal ulceration | |
| HP:0001371 | Flexion contracture | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0011527 | Lentiglobus | |
| HP:0000482 | Microcornea | |
| HP:0000568 | Microphthalmia | |
| HP:0000543 | Optic disc pallor | |
| HP:0000089 | Renal hypoplasia | |
| HP:0001105 | Retinal atrophy | |
| HP:0000546 | Retinal degeneration | |
| HP:0000556 | Retinal dystrophy | |
| HP:0000573 | Retinal hemorrhage | |
| HP:0001744 | Splenomegaly | |
| HP:0001297 | Stroke | |
| HP:0100309 | Subdural hemorrhage | |
| HP:0000122 | Unilateral renal agenesis | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 25851792[PMID]_27507608[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90324
- This record as JSON: /data/d/90324.json