Lipodystrophy

Disease Term Disease ID Gene Symbol Classification References Source
AKT2-RELATED FAMILIAL PARTIAL LIPODYSTROPHY
MONDO:0019192
AKT2 Unknown
16409151 21865368
GWAS catalog
LIPODYSTROPHY
C0023787MESH:D008060MONDO:0006573
BSCL2 Causal
18057387 18458148 22269949 23430896 23659685 23680914 23989774 25462787 30266686 30864635 35351089
CTD ClinGen Disgenet GWAS catalog
LMNA Causal
15298354 16636128 18041775 19201734 21346069 24309898 28641778 29108996 30177912 32524016 32685188 34088712
ClinGen Disgenet GWAS catalog
PPARG Causal
10622252 11788685 12453919 16412238 16965332 17011503 17299075 17766367 22750678 24309898 24980513 26119484 29622583 30595551 34168618 35422762 36402763 36806620
ClinGen Disgenet HPO
ADRA2A Unknown — Disgenet GenCC
AGPAT2 Unknown
12765973 21051554 22902344 23430550 24309898 27408775 32153340 32280377 32412105 35474974 37752957 38127985 38231342 38623324
ClinGen Disgenet GWAS catalog
CAV1 Unknown
18237401
ClinGen Disgenet GWAS catalog
CAVIN1 Unknown
18840361 19726876 20300641 27144934 28289716 38234231
ClinGen Disgenet GWAS catalog
PARP2 Unknown
21417348
CTD Disgenet
POLD1 Unknown
23770608
CTD Disgenet
SUPT7L Unknown — Disgenet GenCC
ZMPSTE24 Unknown
12913070
CTD Disgenet
LIPODYSTROPHY, CONGENITAL GENERALIZED
MESH:D052497
AGPAT2 Unknown — CTD
BSCL2 Unknown — CTD
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
608594
AGPAT2 Unknown — HPO
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2
269700
BSCL2 Unknown — HPO
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3
612526C2675861MESH:C567282
CAV1 Unknown — CTD Disgenet HPO
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4
613327C2750069MESH:C567642
CAVIN1 Unknown — CTD Disgenet HPO
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5
620680C5882745MONDO:0958023
PCYT1A Causal — ClinVar Disgenet HPO
LIPODYSTROPHY, FAMILIAL PARTIAL
MESH:D052496
AKT2 Unknown
19793595
CTD
CAV1 Unknown
19793595
CTD
CIDEC Unknown — CTD
LIPE Unknown — CTD
LMNA Unknown
12844477 14510863 16241930 19793595
CTD
PLIN1 Unknown — CTD
PPARG Unknown
19793595
CTD
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
151660
LMNA Unknown — HPO
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
604367
PPARG Unknown — HPO
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4
613877
PLIN1 Unknown — HPO
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5
615238
CIDEC Unknown — HPO
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6
615980
LIPE Unknown — HPO
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7
606721C3807567OMIM:606721
CAV1 Unknown — CTD Disgenet HPO
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8
620679C5882744MONDO:0958022
ADRA2A Causal — ClinVar Disgenet GenCC HPO
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9
620683C5882746MONDO:0958034
PLAAT3 Causal — ClinVar Disgenet GenCC HPO
LIPODYSTROPHY, NOT ELSEWHERE CLASSIFIED
C0494360
AGPAT2 Unknown — Disgenet
BSCL2 Unknown — Disgenet
CAV1 Unknown — Disgenet
CAVIN1 Unknown — Disgenet
LIPODYSTROPHY, PARTIAL, ACQUIRED
MESH:C562448
LMNB2 Unknown — CTD
LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO
MONDO:0100476
LMNB2 Unknown
16826530 22768673 22995991 28641778 35011612
ClinVar GWAS catalog
LIPODYSTROPHY-DEMYELINATING PERIPHERAL SENSORY-MOTOR NEUROPATHY SYNDROME
686999
PLAAT3 Unknown
37919452
Orphanet