Congenital generalized lipodystrophy

Disease Term Disease ID Gene Symbol Classification References Source
CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 1
696189C1720862MONDO:0012071
AGPAT2 Causal
11967537 20301391
ClinVar Disgenet GWAS catalog Orphanet
CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 2
696289C1720863MONDO:0010020
BSCL2 Causal
11479539 20301391
ClinVar Disgenet GWAS catalog Orphanet
ACTL6B Unknown — Disgenet
GNG3 Unknown — Disgenet
CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 3
696206MONDO:0012923
CAV1 Causal
11739396 12660144 18211975 34643546
ClinGen ClinVar GWAS catalog Orphanet
CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 4
228429MONDO:0013225
CAVIN1 Causal
20300641 20684003 27167729 27894728
ClinVar Disgenet Orphanet