CGL1
MCID: LPD032
MIFTS: 50

Lipodystrophy, Congenital Generalized, Type 1 (CGL1)

Categories: Endocrine diseases, Genetic diseases, Muscle diseases, Rare diseases, Skin diseases

Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 1

MalaCards integrated aliases for Lipodystrophy, Congenital Generalized, Type 1:

Name: Lipodystrophy, Congenital Generalized, Type 1 57 13
Congenital Generalized Lipodystrophy Type 1 12 53 29 6 15 73
Bscl1 57 12 53 75
Cgl1 57 12 75
Berardinelli-Seip Congenital Lipodystrophy, Type 1 57 12
Berardinelli-Seip Congenital Lipodystrophy Type 1 53 75
Brunzell Syndrome Agpat2-Related 12 75
Berardinelli-Seip Congenital Lipodystrophy, Type 1; Bscl1 57
Lipodystrophy, Berardinelli-Seip Congenital, Type 1 57
Total Lipodystrophy and Acromegaloid Gigantism 75
Lipodystrophy, Generalized, Congenital, Type 1 40
Congenital Generalized Lipodystrophy 1 75
Familial Partial Lipodystrophy, Type 2 73
Lipodystrophy, Congenital Generalized 44
Familial Generalized Lipodystrophy 73
Brunzell Syndrome, Agpat2-Related 57
Agpat2-Related Brunzell Syndrome 53
Lipodystrophy Berardinelli Type 75
Lipoatrophic Diabetes Mellitus 73
Berardinelli-Seip Syndrome 75
Lipoatrophic Diabetes 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
lipodystrophy, congenital generalized, type 1:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Lipodystrophy, Congenital Generalized, Type 1

OMIM : 57 Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). (608594)

MalaCards based summary : Lipodystrophy, Congenital Generalized, Type 1, also known as congenital generalized lipodystrophy type 1, is related to lipodystrophy, familial partial, type 2 and lipodystrophy, congenital generalized, type 2, and has symptoms including myalgia An important gene associated with Lipodystrophy, Congenital Generalized, Type 1 is AGPAT2 (1-Acylglycerol-3-Phosphate O-Acyltransferase 2), and among its related pathways/superpathways are Common Cytokine Receptor Gamma-Chain Family Signaling Pathways and AMP-activated Protein Kinase (AMPK) Signaling. Affiliated tissues include bone, skin and liver, and related phenotypes are mandibular prognathia and macrotia

Disease Ontology : 12 A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.

UniProtKB/Swiss-Prot : 75 Congenital generalized lipodystrophy 1: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.

Related Diseases for Lipodystrophy, Congenital Generalized, Type 1

Diseases in the Acquired Generalized Lipodystrophy family:

Lipodystrophy, Congenital Generalized, Type 2 Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Congenital Generalized, Type 3 Lipodystrophy, Congenital Generalized, Type 4
Congenital Generalized Lipodystrophy

Diseases related to Lipodystrophy, Congenital Generalized, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, familial partial, type 2 33.0 AGPAT2 INS LEP LMNA
2 lipodystrophy, congenital generalized, type 2 32.3 AGPAT2 BSCL2 LMNA
3 congenital generalized lipodystrophy 31.9 AGPAT2 BSCL2 LEP LMNA ZMPSTE24
4 lipodystrophy, congenital generalized, type 3 31.8 AGPAT2 BSCL2
5 lipodystrophy, congenital generalized, type 4 31.2 ADIPOQ AGPAT2 BSCL2 LMNA
6 acquired generalized lipodystrophy 30.7 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
7 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 29.8 ADIPOQ AGPAT2 BSCL2 INS LMNA
8 hyperglycemia 29.7 ADIPOQ INS LEP
9 nonalcoholic steatohepatitis 29.5 ADIPOQ INS LEP
10 liver disease 29.5 ADIPOQ INS LEP
11 aredyld 12.2
12 diabetes mellitus 10.5
13 achalasia 10.4
14 spastic paraplegia 17, autosomal dominant 10.1 AGPAT2 BSCL2
15 adiposis dolorosa 10.1 AGPAT2 ZMPSTE24
16 pigmentation disease 10.1 AGPAT2 INS
17 mandibuloacral dysplasia with type a lipodystrophy 10.1 LMNA ZMPSTE24
18 restrictive dermopathy, lethal 10.1 LMNA ZMPSTE24
19 acroosteolysis 10.1 LMNA ZMPSTE24
20 ovarian cystadenoma 10.1 LMNA ZMPSTE24
21 reynolds syndrome 10.1 LMNA ZMPSTE24
22 monogenic diabetes 10.0 BSCL2 INS
23 hallermann-streiff syndrome 10.0 LMNA ZMPSTE24
24 pancreas disease 10.0 INS LEP
25 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.0 INS LEP
26 lipodystrophy, familial partial, type 3 10.0 AGPAT2 BSCL2 LMNA
27 hutchinson-gilford progeria syndrome 10.0 LMNA ZMPSTE24
28 fetal macrosomia 10.0 INS LEP
29 alstrom syndrome 10.0 INS LEP
30 childhood type dermatomyositis 10.0
31 ectodermal dysplasia 10.0
32 dermatomyositis 10.0
33 rickets 10.0
34 ovarian disease 10.0
35 hypothalamic disease 10.0
36 retinal degeneration 10.0
37 neuropathy 10.0
38 hereditary hypophosphatemic rickets 10.0
39 sleep disorder 10.0 INS LEP
40 anovulation 10.0 INS LEP
41 berardinelli-seip congenital lipodystrophy 9.9 AGPAT2 BSCL2 LEP
42 diabetic neuropathy 9.9 INS LEP
43 autosomal genetic disease 9.9 INS LMNA
44 idiopathic edema 9.9 ADIPOQ INS
45 uremia 9.9 INS LEP
46 obesity-hypoventilation syndrome 9.9 ADIPOQ LEP
47 idiopathic recurrent pericarditis 9.9 ADIPOQ LEP
48 nontuberculous mycobacterial lung disease 9.9 ADIPOQ LEP
49 lipodystrophy, familial partial, type 1 9.9 INS LEP LMNA
50 lipid storage disease 9.9 ADIPOQ INS

Graphical network of the top 20 diseases related to Lipodystrophy, Congenital Generalized, Type 1:



Diseases related to Lipodystrophy, Congenital Generalized, Type 1

Symptoms & Phenotypes for Lipodystrophy, Congenital Generalized, Type 1

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly

Abdomen External Features:
umbilical hernia
prominent umbilicus

Skin Nails Hair Skin:
acanthosis nigricans

Genitourinary Kidneys:
nephrolithiasis

Genitourinary External Genitalia Female:
clitoromegaly
labial hypertrophy

Skin Nails Hair Hair:
hirsutism

Skeletal:
advanced bone age
lytic cystic lesions in appendicular bones (occurs after puberty)

Head And Neck Ears:
large ears

Abdomen Gastrointestinal:
voracious appetite

Genitourinary:
genital anomalies

Abdomen Pancreas:
pancreatitis, acute

Abdomen Liver:
hepatomegaly
hepatic steatosis
cirrhosis

Laboratory Abnormalities:
hypertriglyceridemia
hyperinsulinemia
decreased serum leptin
elevated liver enzymes

Genitourinary Internal Genitalia Female:
polycystic ovaries
decreased fertility in females

Skeletal Hands:
large hands

Endocrine Features:
decreased fertility in females
insulin-resistant diabetes mellitus at puberty

Muscle Soft Tissue:
nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)
hernias
generalized muscular appearance from birth
retain some mechanical adipose tissue (joints, orbits, palms, soles)

Skeletal Feet:
large feet

Head And Neck Face:
triangular facies
large mandible
acromegaloid features

Cardiovascular Heart:
cardiomyopathy (in some patients)

Growth Height:
increased linear growth


Clinical features from OMIM:

608594

Human phenotypes related to Lipodystrophy, Congenital Generalized, Type 1:

32 (show all 32)
# Description HPO Frequency HPO Source Accession
1 mandibular prognathia 32 HP:0000303
2 macrotia 32 HP:0000400
3 splenomegaly 32 HP:0001744
4 hepatomegaly 32 HP:0002240
5 umbilical hernia 32 HP:0001537
6 hypertriglyceridemia 32 HP:0002155
7 acanthosis nigricans 32 HP:0000956
8 hepatic steatosis 32 HP:0001397
9 hyperinsulinemia 32 HP:0000842
10 cirrhosis 32 HP:0001394
11 cardiomyopathy 32 occasional (7.5%) HP:0001638
12 lipodystrophy 32 HP:0009125
13 polycystic ovaries 32 HP:0000147
14 nephrolithiasis 32 HP:0000787
15 polyphagia 32 HP:0002591
16 triangular face 32 HP:0000325
17 large hands 32 HP:0001176
18 tall stature 32 HP:0000098
19 accelerated skeletal maturation 32 HP:0005616
20 decreased fertility in females 32 HP:0000868
21 decreased serum leptin 32 HP:0003292
22 hirsutism 32 HP:0001007
23 clitoral hypertrophy 32 HP:0008665
24 long foot 32 HP:0001833
25 insulin-resistant diabetes mellitus at puberty 32 HP:0000877
26 acute pancreatitis 32 HP:0001735
27 labial hypertrophy 32 HP:0000065
28 prominent umbilicus 32 HP:0001544
29 generalized muscular appearance from birth 32 HP:0003716
30 elevated hepatic transaminase 32 HP:0002910
31 cystic angiomatosis of bone 32 HP:0002833
32 reduced intrathoracic adipose tissue 32 HP:0003809

UMLS symptoms related to Lipodystrophy, Congenital Generalized, Type 1:


myalgia

MGI Mouse Phenotypes related to Lipodystrophy, Congenital Generalized, Type 1:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 10.11 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
2 behavior/neurological MP:0005386 10.1 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
3 endocrine/exocrine gland MP:0005379 10.05 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
4 growth/size/body region MP:0005378 10.04 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
5 cardiovascular system MP:0005385 10.02 ADIPOQ BSCL2 INS LEP LMNA ZMPSTE24
6 hematopoietic system MP:0005397 10.02 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
7 cellular MP:0005384 10.01 ADIPOQ BSCL2 INS LEP LMNA ZMPSTE24
8 digestive/alimentary MP:0005381 10 AGPAT2 BSCL2 INS LEP LMNA ZMPSTE24
9 homeostasis/metabolism MP:0005376 10 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
10 immune system MP:0005387 9.98 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
11 integument MP:0010771 9.95 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
12 liver/biliary system MP:0005370 9.87 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
13 mortality/aging MP:0010768 9.8 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
14 limbs/digits/tail MP:0005371 9.67 AGPAT2 LEP LMNA ZMPSTE24
15 muscle MP:0005369 9.55 ADIPOQ INS LEP LMNA ZMPSTE24
16 renal/urinary system MP:0005367 9.5 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
17 skeleton MP:0005390 9.17 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA

Drugs & Therapeutics for Lipodystrophy, Congenital Generalized, Type 1

Search Clinical Trials , NIH Clinical Center for Lipodystrophy, Congenital Generalized, Type 1

Cochrane evidence based reviews: lipodystrophy, congenital generalized

Genetic Tests for Lipodystrophy, Congenital Generalized, Type 1

Genetic tests related to Lipodystrophy, Congenital Generalized, Type 1:

# Genetic test Affiliating Genes
1 Congenital Generalized Lipodystrophy Type 1 29 AGPAT2

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 1

MalaCards organs/tissues related to Lipodystrophy, Congenital Generalized, Type 1:

41
Bone, Skin, Liver, Ovary, Lung, Kidney, Pancreas

Publications for Lipodystrophy, Congenital Generalized, Type 1

Articles related to Lipodystrophy, Congenital Generalized, Type 1:

# Title Authors Year
1
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1. ( 22902344 )
2012

Variations for Lipodystrophy, Congenital Generalized, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Lipodystrophy, Congenital Generalized, Type 1:

75
# Symbol AA change Variation ID SNP ID
1 AGPAT2 p.Ala239Val VAR_017325 rs145975461
2 AGPAT2 p.Leu228Pro VAR_017327 rs104894100
3 AGPAT2 p.Gly136Arg VAR_017328 rs797045222

ClinVar genetic disease variations for Lipodystrophy, Congenital Generalized, Type 1:

6 (show top 50) (show all 53)
# Gene Variation Type Significance SNP ID Assembly Location
1 AGPAT2 NM_006412.3(AGPAT2): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs104894093 GRCh37 Chromosome 9, 139571989: 139571989
2 AGPAT2 NM_006412.3(AGPAT2): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs104894093 GRCh38 Chromosome 9, 136677537: 136677537
3 AGPAT2 NM_006412.3(AGPAT2): c.589-2A> G single nucleotide variant Pathogenic rs116807569 GRCh38 Chromosome 9, 136674809: 136674809
4 AGPAT2 NM_006412.3(AGPAT2): c.589-2A> G single nucleotide variant Pathogenic rs116807569 GRCh37 Chromosome 9, 139569261: 139569261
5 AGPAT2 NM_006412.3(AGPAT2): c.377dupT (p.Pro128Alafs) duplication Pathogenic rs387906355 GRCh37 Chromosome 9, 139571528: 139571528
6 AGPAT2 NM_006412.3(AGPAT2): c.377dupT (p.Pro128Alafs) duplication Pathogenic rs387906355 GRCh38 Chromosome 9, 136677076: 136677076
7 AGPAT2 NM_006412.3(AGPAT2): c.683T> C (p.Leu228Pro) single nucleotide variant Pathogenic rs104894100 GRCh37 Chromosome 9, 139568358: 139568358
8 AGPAT2 NM_006412.3(AGPAT2): c.683T> C (p.Leu228Pro) single nucleotide variant Pathogenic rs104894100 GRCh38 Chromosome 9, 136673906: 136673906
9 AGPAT2 NM_006412.3(AGPAT2): c.418_420delTTC (p.Phe140del) deletion Pathogenic rs387906356 GRCh37 Chromosome 9, 139571485: 139571487
10 AGPAT2 NM_006412.3(AGPAT2): c.418_420delTTC (p.Phe140del) deletion Pathogenic rs387906356 GRCh38 Chromosome 9, 136677033: 136677035
11 AGPAT2 NM_006412.3(AGPAT2): c.643A> T (p.Lys215Ter) single nucleotide variant Pathogenic rs121908925 GRCh37 Chromosome 9, 139569205: 139569205
12 AGPAT2 NM_006412.3(AGPAT2): c.643A> T (p.Lys215Ter) single nucleotide variant Pathogenic rs121908925 GRCh38 Chromosome 9, 136674753: 136674753
13 AGPAT2 NM_006412.3(AGPAT2): c.493-1G> C single nucleotide variant Pathogenic rs606231168 GRCh38 Chromosome 9, 136676681: 136676681
14 AGPAT2 NM_006412.3(AGPAT2): c.493-1G> C single nucleotide variant Pathogenic rs606231168 GRCh37 Chromosome 9, 139571133: 139571133
15 AGPAT2 NM_006412.3(AGPAT2): c.570C> A (p.Tyr190Ter) single nucleotide variant Pathogenic rs121908926 GRCh37 Chromosome 9, 139571055: 139571055
16 AGPAT2 NM_006412.3(AGPAT2): c.570C> A (p.Tyr190Ter) single nucleotide variant Pathogenic rs121908926 GRCh38 Chromosome 9, 136676603: 136676603
17 AGPAT2 NM_001012727.1(AGPAT2): c.366_492+910del1037 deletion Pathogenic GRCh37 Chromosome 9, 139570503: 139571539
18 AGPAT2 NM_001012727.1(AGPAT2): c.366_492+910del1037 deletion Pathogenic GRCh38 Chromosome 9, 136676051: 136677087
19 AGPAT2 NM_006412.3(AGPAT2): c.406G> A (p.Gly136Arg) single nucleotide variant Pathogenic rs797045222 GRCh37 Chromosome 9, 139571499: 139571499
20 AGPAT2 NM_006412.3(AGPAT2): c.406G> A (p.Gly136Arg) single nucleotide variant Pathogenic rs797045222 GRCh38 Chromosome 9, 136677047: 136677047
21 AGPAT2 NM_006412.3(AGPAT2): c.282delC (p.Ile94Metfs) deletion Pathogenic rs886043265 GRCh38 Chromosome 9, 136677457: 136677457
22 AGPAT2 NM_006412.3(AGPAT2): c.282delC (p.Ile94Metfs) deletion Pathogenic rs886043265 GRCh37 Chromosome 9, 139571909: 139571909
23 AGPAT2 NM_006412.3(AGPAT2): c.646A> T (p.Lys216Ter) single nucleotide variant Uncertain significance rs138994150 GRCh37 Chromosome 9, 139569202: 139569202
24 AGPAT2 NM_006412.3(AGPAT2): c.646A> T (p.Lys216Ter) single nucleotide variant Uncertain significance rs138994150 GRCh38 Chromosome 9, 136674750: 136674750
25 AGPAT2 NM_006412.3(AGPAT2): c.335C> T (p.Pro112Leu) single nucleotide variant Uncertain significance rs886063722 GRCh37 Chromosome 9, 139571570: 139571570
26 AGPAT2 NM_006412.3(AGPAT2): c.335C> T (p.Pro112Leu) single nucleotide variant Uncertain significance rs886063722 GRCh38 Chromosome 9, 136677118: 136677118
27 AGPAT2 NM_006412.3(AGPAT2): c.755_763delTGAGGACCA (p.Met252_Thr254del) deletion Pathogenic rs1057517656 GRCh38 Chromosome 9, 136673826: 136673834
28 AGPAT2 NM_006412.3(AGPAT2): c.755_763delTGAGGACCA (p.Met252_Thr254del) deletion Pathogenic rs1057517656 GRCh37 Chromosome 9, 139568278: 139568286
29 AGPAT2 NM_006412.3(AGPAT2): c.713C> G (p.Ala238Gly) single nucleotide variant Pathogenic rs200656731 GRCh38 Chromosome 9, 136673876: 136673876
30 AGPAT2 NM_006412.3(AGPAT2): c.713C> G (p.Ala238Gly) single nucleotide variant Pathogenic rs200656731 GRCh37 Chromosome 9, 139568328: 139568328
31 AGPAT2 NM_006412.3(AGPAT2): c.676C> T (p.Gln226Ter) single nucleotide variant Pathogenic rs1057517655 GRCh37 Chromosome 9, 139568365: 139568365
32 AGPAT2 NM_006412.3(AGPAT2): c.676C> T (p.Gln226Ter) single nucleotide variant Pathogenic rs1057517655 GRCh38 Chromosome 9, 136673913: 136673913
33 AGPAT2 NM_006412.3(AGPAT2): c.661+2T> G single nucleotide variant Pathogenic rs1057517654 GRCh38 Chromosome 9, 136674733: 136674733
34 AGPAT2 NM_006412.3(AGPAT2): c.661+2T> G single nucleotide variant Pathogenic rs1057517654 GRCh37 Chromosome 9, 139569185: 139569185
35 AGPAT2 NM_006412.3(AGPAT2): c.538delG (p.Asp180ThrfsTer73) deletion Pathogenic rs1057517653 GRCh38 Chromosome 9, 136676635: 136676635
36 AGPAT2 NM_006412.3(AGPAT2): c.538delG (p.Asp180ThrfsTer73) deletion Pathogenic rs1057517653 GRCh37 Chromosome 9, 139571087: 139571087
37 AGPAT2 NM_006412.3(AGPAT2): c.514G> A (p.Glu172Lys) single nucleotide variant Likely pathogenic rs748157664 GRCh38 Chromosome 9, 136676659: 136676659
38 AGPAT2 NM_006412.3(AGPAT2): c.514G> A (p.Glu172Lys) single nucleotide variant Likely pathogenic rs748157664 GRCh37 Chromosome 9, 139571111: 139571111
39 AGPAT2 NM_006412.3(AGPAT2): c.492+1G> A single nucleotide variant Pathogenic rs933422777 GRCh38 Chromosome 9, 136676960: 136676960
40 AGPAT2 NM_006412.3(AGPAT2): c.492+1G> A single nucleotide variant Pathogenic rs933422777 GRCh37 Chromosome 9, 139571412: 139571412
41 AGPAT2 NM_006412.3(AGPAT2): c.299G> A (p.Ser100Asn) single nucleotide variant Pathogenic rs764260414 GRCh38 Chromosome 9, 136677440: 136677440
42 AGPAT2 NM_006412.3(AGPAT2): c.299G> A (p.Ser100Asn) single nucleotide variant Pathogenic rs764260414 GRCh37 Chromosome 9, 139571892: 139571892
43 AGPAT2 NM_006412.3(AGPAT2): c.194G> A (p.Trp65Ter) single nucleotide variant Pathogenic rs1057517651 GRCh38 Chromosome 9, 136677545: 136677545
44 AGPAT2 NM_006412.3(AGPAT2): c.194G> A (p.Trp65Ter) single nucleotide variant Pathogenic rs1057517651 GRCh37 Chromosome 9, 139571997: 139571997
45 AGPAT2 NM_006412.3(AGPAT2): c.183-2A> G single nucleotide variant Pathogenic rs1057517649 GRCh38 Chromosome 9, 136677558: 136677558
46 AGPAT2 NM_006412.3(AGPAT2): c.183-2A> G single nucleotide variant Pathogenic rs1057517649 GRCh37 Chromosome 9, 139572010: 139572010
47 AGPAT2 NM_006412.3(AGPAT2): c.182+1G> A single nucleotide variant Pathogenic rs1057517650 GRCh38 Chromosome 9, 136687175: 136687175
48 AGPAT2 NM_006412.3(AGPAT2): c.182+1G> A single nucleotide variant Pathogenic rs1057517650 GRCh37 Chromosome 9, 139581627: 139581627
49 AGPAT2 NM_006412.3(AGPAT2): c.(316+1_317-1)_(588+1_589-1)del (p.Leu107AlafsTer279) deletion Pathogenic
50 AGPAT2 NM_006412.3(AGPAT2): c.503G> A (p.Trp168Ter) single nucleotide variant Pathogenic rs1057518714 GRCh37 Chromosome 9, 139571122: 139571122

Expression for Lipodystrophy, Congenital Generalized, Type 1

Search GEO for disease gene expression data for Lipodystrophy, Congenital Generalized, Type 1.

Pathways for Lipodystrophy, Congenital Generalized, Type 1

GO Terms for Lipodystrophy, Congenital Generalized, Type 1

Biological processes related to Lipodystrophy, Congenital Generalized, Type 1 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.76 ADIPOQ INS LEP
2 positive regulation of gene expression GO:0010628 9.74 INS LMNA ZMPSTE24
3 response to nutrient GO:0007584 9.59 ADIPOQ LEP
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.58 INS LEP
5 response to nutrient levels GO:0031667 9.56 ADIPOQ LEP
6 fatty acid beta-oxidation GO:0006635 9.55 ADIPOQ LEP
7 response to activity GO:0014823 9.54 ADIPOQ LEP
8 positive regulation of glucose import GO:0046326 9.52 ADIPOQ INS
9 nucleus organization GO:0006997 9.51 LMNA ZMPSTE24
10 positive regulation of cytokine production GO:0001819 9.49 AGPAT2 LEP
11 regulation of glucose metabolic process GO:0010906 9.48 ADIPOQ ZMPSTE24
12 nuclear envelope organization GO:0006998 9.46 LMNA ZMPSTE24
13 negative regulation of lipid catabolic process GO:0050995 9.43 BSCL2 INS
14 glucose homeostasis GO:0042593 9.43 ADIPOQ INS LEP
15 positive regulation of cellular protein metabolic process GO:0032270 9.4 ADIPOQ INS
16 positive regulation of insulin receptor signaling pathway GO:0046628 9.37 INS LEP
17 positive regulation of cold-induced thermogenesis GO:0120162 9.33 ADIPOQ BSCL2 LEP
18 negative regulation of gluconeogenesis GO:0045721 9.32 ADIPOQ INS
19 regulation of protein localization to nucleus GO:1900180 8.96 LEP LMNA
20 glucose metabolic process GO:0006006 8.8 ADIPOQ INS LEP

Molecular functions related to Lipodystrophy, Congenital Generalized, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.8 ADIPOQ INS LEP

Sources for Lipodystrophy, Congenital Generalized, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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72 Tocris
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74 UMLS via Orphanet
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