Cockayne syndrome b

Preferred Label : Cockayne syndrome b;

Symbol : CSB;

CISMeF acronym : CSB;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the excision-repair cross-complementing group 6 gene (ERCC6, 609413.0001);

Laboratory abnormalities : 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 : #133540;

Détails

Origin ID

133540;

UMLS CUI

C0751038;

Automatic exact mappings (from CISMeF team)
- Cellulose sodium phosphate (substance) [SNOMED CT concept]
- Cockayne Syndrome [NCIt concept]
- Cockayne syndrome [PASCAL descriptor]
- ERCC excision repair 6, chromatin remodeling factor [ORDO Gene]
- ERCC excision repair 6, chromatin remodeling factor [HGNC gene]
- ERCC6 wt Allele [NCIt concept]
- Kashubian Language [NCIt concept]
- chorionic somatomammotropin hormone 2 [HGNC gene]
- cockayne syndrome [MeSH concept]
- cockayne syndrome [MeSH Descriptor]
- comma-shaped body [UBERON concept]
Broader ORDO disease(s)
- Cockayne syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Cockayne Syndrome Type B [NCIt concept]
- Cockayne syndrome type 2 [ICD-11 More detail]
- Cockayne syndrome type 2 [ORDO Disease]
- Cockayne syndrome type 2 (disorder) [SNOMED CT concept]
- cockayne syndrome, type II [MeSH concept]
DO Cross reference
- Cockayne syndrome [DO Concept]
Genes related to phenotype
- Ercc excision repair 6, chromatin remodeling factor [OMIM gene]
HPO term(s)
- Abnormal auditory evoked potentials [HPO term]
- Abnormal hair morphology [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]
- Cerebellar calcifications [HPO term]
- Cerebral atrophy [HPO term]
- Childhood onset [HPO term]
- Congenital onset [HPO term]
- Corneal opacity [HPO term]
- Cryptorchidism [HPO term]
- Cutaneous photosensitivity [HPO term]
- Death in childhood [HPO term]
- Decreased lacrimation [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Deeply set eye [HPO term]
- Delayed eruption of primary teeth [HPO term]
- Dental malocclusion [HPO term]
- Dermal atrophy [HPO term]
- Developmental cataract [HPO term]
- Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination [HPO term]
- Dry hair [HPO term]
- Dry skin [HPO term]
- Failure to thrive [HPO term]
- Hepatomegaly [HPO term]
- Hypermetropia [HPO term]
- Hypertension [HPO term]
- Hypoplasia of teeth [HPO term]
- Hypoplasia of the iris [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]
- 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]
- Microcornea [HPO term]
- Micropenis [HPO term]
- Microphthalmia [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]
- Osteoporosis [HPO term]
- Patchy demyelination of subcortical white matter [HPO term]
- Peripheral dysmyelination [HPO term]
- Pigmentary retinopathy [HPO term]
- Polyneuropathy [HPO term]
- Postnatal growth retardation [HPO term]
- Prematurely aged appearance [HPO term]
- Progeroid facial appearance [HPO term]
- Prominent nasal bridge [HPO term]
- Proteinuria [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Renal insufficiency [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Severe failure to thrive [HPO term]
- Severe short stature [HPO term]
- Slender nose [HPO term]
- Small for gestational age [HPO term]
- Sparse hair [HPO term]
- Splenomegaly [HPO term]
- Square pelvis bone [HPO term]
- Strabismus [HPO term]
- Subcortical white matter calcifications [HPO term]
- Thickened calvaria [HPO term]
- Tremor [HPO term]
- Triangular face [HPO term]
- Weakness [HPO term]
- Wizened face [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 1 [ORDO Disease]
- Cockayne syndrome type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cockayne Syndrome Type B [NCIt concept]
- Cockayne syndrome type 2 [ORDO Disease]
- Cockayne syndrome type 2 (disorder) [SNOMED CT concept]
- cockayne syndrome, type II [MeSH concept]
Validated automatic mappings to NTBT
- Cockayne syndrome [ORDO Disease]

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