Infantile Cortical Hyperostosis(Caffey disease) 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 | COL1A1/1277 | collagen type I alpha 1 chain | 17q21.33 | Chr17, NC_000017.11 (50184101..50201631, complement) |
17531 nt | 51 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | A4GALT/53947 | alpha 1,4-galactosyltransferase (P1PK blood group) | 22q13.2 | Chr22, NC_000022.11 (42692121..42721301, complement) |
29181 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |