Acrodysostosis(Arkless-Graham syndrome) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Bone disorders category
Reported Pathogenic variants
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 |