* Phenotype mapping Key
1 => The disorder is placed on the map based on its association with a gene, but the underlying defect is not known
2 => The disorder has been placed on the map by linkage; no mutation has been found
3 => The molecular basis for the disorder is known; a mutation has been found in the gene
4 => A contiguous gene deletion or duplication syndrome, multiple genes are deleted or duplicated causing the phenotype
Gene Symbol | Chromosomal Location | Gene MIM number | Mapping Method | Phenotype | Phenotype MIM number | Phenotype Mapping Key |
CAV1 | 7q31.2 | 601047 | REc | ?Lipodystrophy, congenital generalized, type 3, 612526 (3) | 612526 | 3 |
CAV1 | 7q31.2 | 601047 | REc | Pulmonary hypertension, primary, 3, 615343 (3) | 615343 | 3 |
CAV1 | 7q31.2 | 601047 | REc | ?Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, 606721 (3) | 606721 | 3 |