Lipodystrophy

Disease Term Disease ID Gene Symbol References
AKT2-related familial partial lipodystrophy 79085 AKT2
Familial generalized lipodystrophy C0221032 CAV1 18211975
FOS 23919306
KCNJ6
LMNA
PPARG 24980513
ZMPSTE24
AGPAT2
POLR3A
BSCL2 11479539
CAVIN1 20684003, 27894728
HNRNPUL2-BSCL2
LIPE-related familial partial lipodystrophy 435660 LIPE
Lipodystrophy C0023787 ACTB
ACTC1
ACTN2
ADAR
AKT2
ALB
ATP6V1A
ATP6V1E1
CAV1
COL3A1
CRYAB
DDOST
DES
DMD
DSG2
EMD
FBN1
FKTN
FGFR1
FHL1
FHL2
FLNA
FOS
FUCA1
IGF1R
INSR
KRAS
LAMA4
LIPE
LMNA
MYBPC3
MYH6
MYH7
PDGFRB
PIK3CA
PIK3R1
PLIN1
PLN
PMM2
POLD1 23770608
PPARG
PSEN1
PSEN2
PSMB4
PSMB8
PSMB9
RAF1
SCN5A
SDHA
SGCD
WWTR1
TMPO
TNNC1
TNNI3
TNNT2
TPM1
TTN
VCL
WRN
CSRP3
TCAP
BANF1
TAF1A
USP8
BAG3
PARP2 21417348
ABCC9
ZMPSTE24 12913070
CAP2
NEBL
RNASEH2A
AGPAT2 12765973, 11967537
TXNRD2
POLR3A
LDB3
TREX1
B4GALT7
DOLK
SYNE2
SYNE1
ATP6V0A2
SAMHD1
BSCL2 25462787
ANKRD1
SLC25A24
GMNN 26637980
RBM28
SLC29A3
GATAD1
CIDEC
PRDM16
CDH23
IFIH1
TMEM43
RNASEH2B
PPCS
CLMP
SPRTN
RNASEH2C
MYPN
LMNB2
OTULIN
NEXN
RBM20
CAVIN1
Lipodystrophy, Congenital Generalized, Type 3 C2675861 CAV1 18211975, 25898808, 23049990
Lipodystrophy, Congenital Generalized, Type 4 C2750069 CAVIN1 19726876, 20300641
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 C3151268 PLIN1 30020498, 25695774, 21345103
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 C3808940 CIDEC 20049731
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 C4014869 LIPE 24848981, 25475467
LIPE-AS1