GenTIGSA Gene Database on Rare Genetic Disorders
Brittle Cornea Syndrome 1  
Disease Aliases (18)

Bcs1

Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility

Dysgenesis mesodermalis corneae et sclerae

Eds vib (formerly)

Eds6b, formerly

Ehlers-danlos syndrome, type vib, formerly

Ehlers-danlos syndrome type 6b (formerly)

Ehlers-danlos syndrome type 6b

Ehlers-danlos syndrome, type vib

Fragilitas oculi with joint hyperextensibility

Znf469 brittle cornea syndrome

Brittle cornea syndrome 1

Brittle cornea syndrome 1; bcs1

Brittle cornea syndrome caused by mutation in znf469

Brittle cornea syndrome type 1

Kyphoscoliosis type

Type vib ehlers-danlos syndrome

Associated Genes (2)
 

NCBI-RefSeq:  ZNF469   (Zinc finger protein 469)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  PRDM5   (PR/SET domain 5)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Brittle cornea syndrome 1 OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations