Table 8.
Organ Abnormalities by Phenotype/Subtype
| Phenotype/Subtype | Total Number of Patients | Patients With More Than One Organ Abnormality, n (%) | Organs With Abnormalities, Mean (SD) |
|---|---|---|---|
| AGL | |||
| Lawrence syndrome | 1 | 1 (100.0) | 1.0 (—) |
| Unknown or not documented | 4 | 2 (50.0) | 1.0 (1.4) |
| Other | 2 | 2 (100.0) | 3.5 (0.7) |
| APL | |||
| Barraquer-Simons syndrome | 19 | 10 (52.6) | 1.0 (1.1) |
| Unknown or not documented | 6 | 4 (66.7) | 1.2 (1.5) |
| Other | 3 | 2 (66.7) | 1.0 (1.0) |
| CGLa | |||
| CGL1, AGPAT2 mutations | 31 | 29 (93.5) | 1.9 (1.0) |
| CGL2, BSCL2 mutations | 18 | 18 (100.0) | 2.1 (0.8) |
| CGL4, PTRF mutations | 2 | 2 (100.0) | 2.0 (0.0) |
| Unknown or not documented | 19 | 16 (84.2) | 1.5 (0.9) |
| Other | 2 | 2 (100.0) | 2.5 (0.7) |
| Generalized progeroid lipodystrophy | 2 | 2 (100.0) | 2.0 (0.0) |
| FPLDa | |||
| FPLD1, Köbberling variety | 10 | 8 (80.0) | 1.7 (1.2) |
| FPLD2, Dunnigan variety, LMNA mutations | 68 | 49 (72.1) | 1.5 (1.2) |
| FPLD3, PPARG mutations | 11 | 11 (100.0) | 1.6 (0.7) |
| Unknown or not documented | 18 | 12 (66.7) | 1.2 (1.0) |
| Other | 14 | 12 (85.7) | 1.6 (1.0) |
a
No patients with mutations in CAV1 (CGL3), PLIN1 (FPLD4), or AKT2 (FPLD5) were identified. No patients with mutations in CIDEC or PCYT1a were identified.