GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Adams-Oliver Syndrome 1  
Disease Aliases (25)

Absence defect of limbs, scalp, and skull

Aos

Aos1

Aplasia cutis congenita with terminal transverse limb defects

Aplasia cutis congenita, congenital heart defect, and frontonasal cysts

Arhgap31 adams-oliver syndrome

Adams oliver syndrome

Adams-oliver syndrome 1

Adams-oliver syndrome 1; aos1

Adams-oliver syndrome caused by mutation in arhgap31

Aplasia cutis of the scalp

Congenital scalp defects with distal limb reduction anomalies

Congenital absence of skin on scalp with limb-reduction anomaly

Congenital defect of skull and scalp

Congenital scalp defects with distal limb anomalies

Familial aplasia cutis congenita of the scalp

Limb

Limb scalp and skull defects

Limb, scalp and skull defects

Scalp and head syndrome

Scalp defect, congenital

Scalp defects with ectrodactyly

Type 2 aplasia cutis

Scalp and skull defects

Associated Genes (6)
 

NCBI-RefSeq:  DOCK6   (Dedicator of cytokinesis 6)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  ARHGAP31   (Rho GTPase activating protein 31)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  DLL4   (Delta like canonical Notch ligand 4)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  EOGT   (EGF domain specific O-linked N-acetylglucosamine transferase)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  NOTCH1   (Notch receptor 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RBPJ   (Recombination signal binding protein for immunoglobulin kappa J region)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Adams-Oliver syndrome 1 OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations