Ehlers-Danlos Syndrome, Kyphoscoliotic Type 1(Hydroxylysine-deficient collagen disease) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Multisystemic 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 | PLOD1/5351 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | 1p36.22 | Chr1, NC_000001.11 (11934717..11975537) |
40821 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities