CLOVES Syndrome(Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi) Explore Disorder's Alias
An Somatic mosaicism mode(s) within the Skin disorders category
Candidate Gene Information
An Somatic mosaicism mode(s) within the Skin 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 | PIK3CA/5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 3q26.32 | Chr3, NC_000003.12 (179148126..179240093) |
91968 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | PIK3R1/5295 | phosphoinositide-3-kinase regulatory subunit 1 | 5q13.1 | Chr5, NC_000005.10 (68215756..68301821) |
86066 nt | 23 | 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 |