Phenotype: Insulin resistance (HP:0000855)
Associated genes and diseases:
gene_symbol: KLF11
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: APPL1
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: BLK
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: CEL
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: INS
disease_id: ORPHA:552
disease_name: MODY
Maturity-onset diabetes of the young
gene_symbol: PLAAT3
disease_id: OMIM:620683
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9
gene_symbol: MICU1
disease_id: ORPHA:401768
disease_name: Proximal myopathy with extrapyramidal signs
gene_symbol: EIF2AK3
disease_id: OMIM:226980
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
gene_symbol: CIDEC
disease_id: ORPHA:435651
disease_name: CIDEC-related familial partial lipodystrophy
CIDEC-related FPLD
FPLD5
gene_symbol: LEPR
disease_id: ORPHA:179494
disease_name: Obesity due to leptin receptor gene deficiency
gene_symbol: LEP
disease_id: ORPHA:66628
disease_name: Obesity due to congenital leptin deficiency
gene_symbol: ERCC6
disease_id: OMIM:214150
disease_name: CEREBROOCULOFACIOSKELETAL SYNDROME 1
gene_symbol: IGF1
disease_id: ORPHA:73272
disease_name: Growth delay due to insulin-like growth factor type 1 deficiency
Growth delay-deafness-intellectual disability syndrome
Growth delay-hearing loss-intellectual disability syndrome
IGF-1 deficiency
Primary insulin-like growth factor deficiency
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: BBIP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP290
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT27
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS1
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: SCAPER
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: NPHP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: WDPCP
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCLT1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS9
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP19
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP19
disease_id: OMIM:615703
disease_name: MORBID OBESITY AND SPERMATOGENIC FAILURE
gene_symbol: TRIM32
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS10
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TTC8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT172
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS2
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS4
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKKS
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: LZTFL1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS7
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS12
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SDCCAG8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CFAP418
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: ARL6
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: ARL6
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: BBS5
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT74
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: DBH
disease_id: ORPHA:230
disease_name: Dopamine beta-hydroxylase deficiency
DBH deficiency
gene_symbol: NSMCE2
disease_id: OMIM:617253
disease_name: SECKEL SYNDROME 10
gene_symbol: LIPE
disease_id: ORPHA:435660
disease_name: LIPE-related familial partial lipodystrophy
FPLD6
LIPE-related FPLD
gene_symbol: LIPE
disease_id: OMIM:615980
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6
gene_symbol: HSD11B1
disease_id: OMIM:614662
disease_name: CORTISONE REDUCTASE DEFICIENCY 2
gene_symbol: INSR
disease_id: ORPHA:508
disease_name: Leprechaunism
Donohue syndrome
gene_symbol: INSR
disease_id: ORPHA:769
disease_name: Rabson-Mendenhall syndrome
gene_symbol: INSR
disease_id: ORPHA:263458
disease_name: Hyperinsulinism due to INSR deficiency
Hyperinsulinemic hypoglycemia due to INSR deficiency
Hyperinsulinemic hypoglycemia due to insulin receptor deficiency
gene_symbol: CAV1
disease_id: OMIM:612526
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3
gene_symbol: CAV1
disease_id: OMIM:606721
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7
gene_symbol: WRN
disease_id: ORPHA:902
disease_name: Werner syndrome
Adult progeria
WS
gene_symbol: GRB10
disease_id: ORPHA:96182
disease_name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
UPD(7)mat
gene_symbol: LMNA
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: LMNA
disease_id: ORPHA:90153
disease_name: Mandibuloacral dysplasia with type A lipodystrophy
MADA
gene_symbol: LMNA
disease_id: ORPHA:280365
disease_name: Autosomal semi-dominant severe lipodystrophic laminopathy
gene_symbol: LMNA
disease_id: ORPHA:79084
disease_name: Familial partial lipodystrophy, Köbberling type
FPLD1
Familial partial lipodystrophy type 1
gene_symbol: LMNA
disease_id: OMIM:151660
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
gene_symbol: LMNA
disease_id: ORPHA:2348
disease_name: Familial partial lipodystrophy, Dunnigan type
Dunnigan syndrome
FPLD2
Familial partial lipodystrophy type 2
gene_symbol: ZMPSTE24
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: ZMPSTE24
disease_id: ORPHA:90154
disease_name: Mandibuloacral dysplasia with type B lipodystrophy
gene_symbol: BSCL2
disease_id: ORPHA:363400
disease_name: Severe neurodegenerative syndrome with lipodystrophy
Severe neurodegenerative syndrome due to BSCL2 deficiency
gene_symbol: PPARG
disease_id: OMIM:604367
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
gene_symbol: PPARG
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: PPARG
disease_id: ORPHA:79083
disease_name: PPARG-related familial partial lipodystrophy
FPLD3
Familial partial lipodystrophy type 3
PPARG-related FPLD
gene_symbol: PPARG
disease_id: ORPHA:528
disease_name: Congenital generalized lipodystrophy
BSCL
Berardinelli-Seip congenital lipodystrophy
Berardinelli-Seip syndrome
CGL
Lipoatrophic diabetes
gene_symbol: LEMD2
disease_id: OMIM:619322
disease_name: MARBACH-RUSTAD PROGEROID SYNDROME
gene_symbol: TCF7L2
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: PAX4
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: PAX4
disease_id: OMIM:612227
disease_name: DIABETES MELLITUS, KETOSIS-PRONE
gene_symbol: HNF4A
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: IL6
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: LIPC
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: HNF1A
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: NEUROD1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: PPP1R3A
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: SLC30A8
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: GPD2
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: KCNJ11
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: HNF1B
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: SLC2A2
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: ENPP1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: PTPN1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: IRS2
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: HMGA1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: ABCC8
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: IRS1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: MAPK8IP1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: AKT2
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: AKT2
disease_id: ORPHA:79085
disease_name: AKT2-related familial partial lipodystrophy
AKT2-related FPLD
gene_symbol: MTNR1B
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: RETN
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: WFS1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: PDX1
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: GCK
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: IGF2BP2
disease_id: OMIM:125853
disease_name: TYPE 2 DIABETES MELLITUS
gene_symbol: PHLDB1
disease_id: OMIM:620639
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XXIII
gene_symbol: IRF4
disease_id: ORPHA:3452
disease_name: Whipple disease
Intestinal lipodystrophy
gene_symbol: PMM2
disease_id: ORPHA:79318
disease_name: PMM2-CDG
CDG syndrome type Ia
CDG-Ia
CDG1A
Carbohydrate deficient glycoprotein syndrome type Ia
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type Ia
Phosphomannomutase 2 deficiency
gene_symbol: PIK3R1
disease_id: OMIM:269880
disease_name: SHORT SYNDROME
gene_symbol: PIK3R1
disease_id: ORPHA:3163
disease_name: SHORT syndrome
Lipodystrophy-Rieger anomaly-diabetes syndrome
Rieger anomaly-partial lipodystrophy syndrome
gene_symbol: SLC5A2
disease_id: ORPHA:69076
disease_name: Familial renal glucosuria
Familial renal glycosuria
SGLT2 deficiency
gene_symbol: XRCC4
disease_id: OMIM:616541
disease_name: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
gene_symbol: IGFALS
disease_id: ORPHA:140941
disease_name: Short stature due to primary acid-labile subunit deficiency
gene_symbol: MFN2
disease_id: ORPHA:2398
disease_name: Multiple symmetric lipomatosis
Cephalothoracic lipodystrophy
Familial benign cervical lipomatosis
Launois-Bensaude lipomatosis
Madelung disease
gene_symbol: PLIN1
disease_id: OMIM:613877
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4
gene_symbol: CCDC28B
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: LMNB2
disease_id: ORPHA:79087
disease_name: Acquired partial lipodystrophy
Barraquer-Simons syndrome
Progressive cephalothoracic lipodystrophy
gene_symbol: FOS
disease_id: ORPHA:528
disease_name: Congenital generalized lipodystrophy
BSCL
Berardinelli-Seip congenital lipodystrophy
Berardinelli-Seip syndrome
CGL
Lipoatrophic diabetes
gene_symbol: GPR101
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: AIP
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: PCYT1A
disease_id: OMIM:620680
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5
gene_symbol: BLM
disease_id: ORPHA:125
disease_name: Bloom syndrome
BSyn
gene_symbol: POLD1
disease_id: OMIM:615381
disease_name: MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
gene_symbol: ADCY3
disease_id: OMIM:617885
disease_name: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
gene_symbol: CAVIN1
disease_id: OMIM:613327
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4
gene_symbol: CLCNKB
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: SLC12A3
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: CYP19A1
disease_id: ORPHA:91
disease_name: Aromatase deficiency
Congenital estrogen deficiency
gene_symbol: GATA6
disease_id: ORPHA:2255
disease_name: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
PACHD
Pancreatic agenesis and congenital heart defects syndrome
Yorifuji-Okuno syndrome
gene_symbol: CNOT1
disease_id: ORPHA:556955
disease_name: Pancreatic agenesis-holoprosencephaly syndrome
gene_symbol: STAT3
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: HYMAI
disease_id: ORPHA:96191
disease_name: Paternal uniparental disomy of chromosome 6 syndrome
UPD(6)pat
gene_symbol: PLAGL1
disease_id: ORPHA:96191
disease_name: Paternal uniparental disomy of chromosome 6 syndrome
UPD(6)pat
gene_symbol: PTF1A
disease_id: ORPHA:65288
disease_name: Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Pancreatic and cerebellar agenesis
gene_symbol: AGPAT2
disease_id: OMIM:608594
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
gene_symbol: ZFP57
disease_id: OMIM:601410
disease_name: DIABETES MELLITUS, TRANSIENT NEONATAL, 1
gene_symbol: ZFP57
disease_id: ORPHA:99886
disease_name: Transient neonatal diabetes mellitus
TNDM