Maffucci Syndrome(Enchondromatosis with multiple cavernous hemangiomas) Explore Disorder's Alias
An Unknown mode(s) within the Bone disorders category
Candidate Gene Information
An Unknown 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 | COL2A1/1280 | collagen type II alpha 1 chain | 12q13.11-q13.2 | Chr12, NC_000012.12 (47972967..48006212, complement) |
33246 nt | 57 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | HIF1A/3091 | hypoxia inducible factor 1 subunit alpha | 14q23.2 | Chr14, NC_000014.9 (61695513..61748258) |
52746 nt | 16 | 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 |