Brittle cornea syndrome 1

Preferred Label : Brittle cornea syndrome 1;

Symbol : BCS1;

CISMeF acronym : BCS1; EDS6B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dysgenesis mesodermalis corneae et sclerae; Ehlers-danlos syndrome, type vib; Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility; EDS6B; Fragilitas oculi with joint hyperextensibility;

Description : Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). - Genetic Heterogeneity of Brittle Cornea Syndrome Brittle cornea syndrome-2 (BCS2; 614170) is caused by mutation in the;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the zinc finger protein 469 gene (ZNF469, 612078.0001);

Laboratory abnormalities : Normal lysl hydroxylase activity; Normal dermal hydroxylysine content;

Prefixed ID : #229200;

Details

Origin ID

229200;

UMLS CUI

C0268344;

Currated CISMeF NLP mapping
- Brittle cornea syndrome [ORDO Disease]
- Brittle cornea syndrome (disorder) [SNOMED CT concept]
- Brittle cornea syndrome 1 [MeSH concept]
- Brittle cornea syndrome 1 [MeSH Supplementary Concept]
- Corneal fragility keratoglobus, blue sclerae AND joint hypermobility (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome type 6B [ICD-11 More detail]
- brittle cornea syndrome [Disease (Nov.)]
- brittle cornea syndrome 1 [DO Concept]
- corneal fragility keratoglobus, blue sclerae and joint hypermobility [SNOMED Notion]
DO Cross reference
- brittle cornea syndrome 1 [DO Concept]
Genes related to phenotype
- Zinc finger protein 469 [OMIM gene]
HPO term(s)
- Abnormal cornea morphology [HPO term]
- Atypical scarring of skin [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue sclerae [HPO term]
- Congenital hip dislocation [HPO term]
- Decreased corneal thickness [HPO term]
- Dentinogenesis imperfecta [HPO term]
- Disproportionate tall stature [HPO term]
- Epicanthus [HPO term]
- Excessive wrinkled skin (palms and soles) [HPO term]
- Hearing impairment [HPO term]
- Joint laxity [HPO term]
- Keratoconus [HPO term]
- Keratoglobus [HPO term]
- Macrocephaly [HPO term]
- Mitral valve prolapse [HPO term]
- Molluscoid pseudotumors [HPO term]
- Myopia [HPO term]
- Palmoplantar cutis laxa [HPO term]
- Red hair [HPO term]
- Scoliosis [HPO term]
- Spondylolisthesis [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Brittle cornea syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brittle cornea syndrome [ORDO Disease]
- Brittle cornea syndrome (disorder) [SNOMED CT concept]
- Brittle cornea syndrome 1 [MeSH Supplementary Concept]
- Brittle cornea syndrome 1 [MeSH concept]
- brittle cornea syndrome [Disease (Nov.)]
- corneal fragility keratoglobus, blue sclerae and joint hypermobility [SNOMED Notion]

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