Cockayne syndrome a

Preferred Label : Cockayne syndrome a;

Symbol : CSA;

CISMeF acronym : CSA;

Type : Phenotype, molecular basis known;

Description : Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992). Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. - Genetic Heterogeneity of Cockayne Syndrome Cockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (133540), caused by mutation in the ERCC6 gene (609413) on chromosome 10q11; XPG/CS (see 278780), caused by mutation in the ERCC5 gene (133530) on chromosome 13q33; XPB/CS (see 610651), caused by mutation in the ERCC3 gene (133510) on chromosome 2q21; and XPF/CS (see 278760), caused by mutation in the ERCC4 gene (133520) on chromosome 16p13. Rapin et al. (2000) reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the excision-repair cross-complementing group 8 gene (ERCC8, 609412.0001);

Laboratory abnormalities : Thymic hormone decreased; At least 2 complementation groups; Abnormal myelination in sural nerve biopsies; Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination; Increased cellular sensitivity to UV light;

Prefixed ID : #216400;

Details

Origin ID

216400;

UMLS CUI

C0751039;

Automatic exact mappings (from CISMeF team)
- Central Sleep Apnea [NCIt concept]
- Central sleep apnoeas [ICD-11 Category]
- Chondrosarcoma [MedDRA Preferred Term]
- Ciclosporin (substance) [SNOMED CT concept]
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]
- Cyclosporine [NCIt concept]
- ERCC excision repair 5, endonuclease [ORDO Gene]
- ERCC excision repair 5, endonuclease [HGNC gene]
- ERCC excision repair 8, CSA ubiquitin ligase complex subunit [ORDO Gene]
- ERCC excision repair 8, CSA ubiquitin ligase complex subunit [HGNC gene]
- ERCC8 wt Allele [NCIt concept]
- Postviral fatigue syndrome [ICD-11 Category]
- chondrosarcoma [MeSH Descriptor]
- chondrosarcoma [MeSH concept]
- chondrosarcoma, nos [SNOMED Notion]
- chorionic somatomammotropin hormone 1 [HGNC gene]
- shoulder impingement syndrome [MeSH Descriptor]
- symbol withdrawn CKN1 [HGNC gene]
Broader ORDO disease(s)
- Cockayne syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Cockayne Syndrome [Radlex concept]
- Cockayne Syndrome Type A [NCIt concept]
- Cockayne syndrome [PASCAL descriptor]
- Cockayne syndrome [Disease (Nov.)]
- Cockayne syndrome [DO Concept]
- Cockayne syndrome [ICD-11 More detail]
- Cockayne syndrome (disorder) [SNOMED CT concept]
- Cockayne syndrome type 1 [ORDO Disease]
- Cockayne syndrome type 1 (disorder) [SNOMED CT concept]
- Cockayne's syndrome [MedDRA Preferred Term]
- cockayne syndrome [MeSH concept]
- cockayne syndrome [MeSH Descriptor]
- cockayne syndrome [SNOMED Notion]
- cockayne syndrome, type I [MeSH concept]
DO Cross reference
- Cockayne syndrome [DO Concept]
- Cockayne syndrome A [DO Concept]
Genes related to phenotype
- Ercc excision repair 8, csa ubiquitin ligase complex subunit [OMIM gene]
HPO term(s)
- Abnormal auditory evoked potentials [HPO term]
- Abnormal peripheral myelination [HPO term]
- Abnormality of cardiac conduction [HPO term]
- Abnormality of skin pigmentation [HPO term]
- Abnormality of the pinna [HPO term]
- Abnormality of visual evoked potentials [HPO term]
- Anhidrosis [HPO term]
- Arrhythmia [HPO term]
- Ataxia [HPO term]
- Atypical scarring of skin [HPO term]
- Autosomal recessive inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- Cachectic dwarfism [HPO term]
- Carious teeth [HPO term]
- Cataract [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Corneal opacity [HPO term]
- Cryptorchidism [HPO term]
- Cutaneous photosensitivity [HPO term]
- Decreased lacrimation [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Deeply set eye [HPO term]
- Delayed eruption of primary teeth [HPO term]
- Dementia [HPO term]
- Dental malocclusion [HPO term]
- Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination [HPO term]
- Dry hair [HPO term]
- Dry skin [HPO term]
- Dysarthria [HPO term]
- Enamel hypoplasia [HPO term]
- Failure to thrive [HPO term]
- Fetal onset [HPO term]
- Gait disturbance [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hip contracture [HPO term]
- Hypermetropia [HPO term]
- Hypertension [HPO term]
- Hypogonadism [HPO term]
- Hypoplasia of teeth [HPO term]
- Hypoplastic iliac wing [HPO term]
- Hypoplastic pelvis [HPO term]
- Increased cellular sensitivity to UV light [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Irregular menstruation [HPO term]
- Ivory epiphyses of the phalanges of the hand [HPO term]
- Kyphosis [HPO term]
- Limitation of joint mobility [HPO term]
- Loss of facial adipose tissue [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Mild to moderate joint limitation [HPO term]
- Muscle weakness [HPO term]
- Normal pressure hydrocephalus [HPO term]
- Nystagmus [HPO term]
- Opacification of the corneal stroma [HPO term]
- Optic atrophy [HPO term]
- Patchy demyelination of subcortical white matter [HPO term]
- Peripheral dysmyelination [HPO term]
- Persistent left superior vena cava [HPO term]
- Pigmentary retinopathy [HPO term]
- Polyneuropathy [HPO term]
- Prematurely aged appearance [HPO term]
- Progeroid facial appearance [HPO term]
- Prominent nose [HPO term]
- Proteinuria [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Renal insufficiency [HPO term]
- Retinal atrophy [HPO term]
- Retinal pigment epithelial mottling [HPO term]
- Salt and pepper retinal pigmentation [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Severe postnatal growth retardation [HPO term]
- Short stature [HPO term]
- Slender nose [HPO term]
- Sparse hair [HPO term]
- Splenomegaly [HPO term]
- Square pelvis bone [HPO term]
- Strabismus [HPO term]
- Thickened calvaria [HPO term]
- Thymic hormone decreased [HPO term]
- Tremor [HPO term]
- Ventriculomegaly [HPO term]
- Weakness [HPO term]
- Wizened face [HPO term]
- Xeroderma pigmentosum [HPO term]
ORDO concept(s)
- Cockayne syndrome [ORDO Disease]
- Cockayne syndrome type 1 [ORDO Disease]
- Cockayne syndrome type 2 [ORDO Disease]
- Cockayne syndrome type 3 [ORDO Disease]
See also inter- (CISMeF)
- Cockayne syndrome type 2 [ORDO Disease]
- Cockayne syndrome type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cockayne Syndrome Type A [NCIt concept]
- Cockayne syndrome type 1 [ORDO Disease]
- Cockayne syndrome type 1 (disorder) [SNOMED CT concept]
- cockayne syndrome, type I [MeSH concept]
Validated automatic mappings to NTBT
- Cockayne Syndrome [NCIt concept]
- Cockayne syndrome [ORDO Disease]

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