GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Acrodysostosis(Arkless-Graham syndrome)      Explore Disorder's Alias
An Autosomal dominant mode(s) within the Bone disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 PRKAR1A/5573 protein kinase cAMP-dependent type I regulatory subunit alpha 17q24.2 Chr17, NC_000017.11
(68413623..68551316)
137694 nt 16 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 PDE4D/5144 phosphodiesterase 4D 5q11.2 Chr5, NC_000005.10
(58969038..60522128, complement)
1553091 nt 42 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information
Disorder Cross-References:      GARD          GTR          MalaCards          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development