GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Cornelia De Lange Syndrome 1  
Disease Aliases (31)

Amstelodamensis, typus degenerativus

Amsterdam dwarf

Bdls

Brachmann-de lange syndrome

Brachmann de lange syndrome

Bruck-de lange syndrome

Cdl

Cdls

Cdls1

Cdls, x linked

Cdls, x-linked

Cdls2

Cdlss, x-linked

Cornelia de lange syndrome 1; cdls1

Cornelia de lange syndrome type 1

Cornelia de lange syndrome 1

Cornelia de lange syndrome 2

Cornelia de lange syndrome 3

Cornelia de lange syndrome, x linked

Cornelia de lange syndrome, x-linked

Cornelia de lange syndrome caused by mutation in nipbl

De lange's syndrome

Degenerative amstelodamensis typus

Degenerative amsterodamensis typus

Nipbl cornelia de lange syndrome

Syndrome, brachmann-de lange

Typus degenerativus amstelodamensis

X-linked cdls

X-linked cdlss

Associated Genes (6)
 

NCBI-RefSeq:  HDAC8   (Histone deacetylase 8)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SMC1A   (Structural maintenance of chromosomes 1A)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  BRD4   (Bromodomain containing 4)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RAD21   (RAD21 cohesin complex component)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SMC3   (Structural maintenance of chromosomes 3)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  NIPBL   (NIPBL cohesin loading factor)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Cornelia de Lange syndrome 1 OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations