CGL1
MCID: LPD032
MIFTS: 51

Lipodystrophy, Congenital Generalized, Type 1 (CGL1)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Immune diseases, Metabolic 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 20 29 6 15 70
Bscl1 57 20 72
Berardinelli-Seip Congenital Lipodystrophy, Type 1 57 12
Berardinelli-Seip Congenital Lipodystrophy Type 1 20 72
Brunzell Syndrome Agpat2-Related 12 72
Cgl1 57 72
Berardinelli-Seip Congenital Lipodystrophy, Type 1; Bscl1 57
Lipodystrophy, Berardinelli-Seip Congenital, Type 1 57
Total Lipodystrophy and Acromegaloid Gigantism 72
Lipodystrophy, Generalized, Congenital, Type 1 39
Congenital Generalized Lipodystrophy 1 72
Familial Partial Lipodystrophy, Type 2 70
Lipodystrophy, Congenital Generalized 44
Familial Generalized Lipodystrophy 70
Brunzell Syndrome, Agpat2-Related 57
Agpat2-Related Brunzell Syndrome 20
Lipodystrophy Berardinelli Type 72
Lipoatrophic Diabetes Mellitus 70
Berardinelli-Seip Syndrome 72
Lipoatrophic Diabetes 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
lipodystrophy, congenital generalized, type 1:
Inheritance autosomal recessive inheritance heterogeneous


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) (Updated 05-Apr-2021)

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 acquired generalized lipodystrophy, 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 Glycerophospholipid biosynthesis and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Empagliflozin and insulin have been mentioned in the context of this disorder. Affiliated tissues include bone and liver, and related phenotypes are cardiomyopathy and splenomegaly

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 : 72 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 103)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, familial partial, type 2 32.0 LEP CAVIN1 BSCL2 AGPAT2
2 acquired generalized lipodystrophy 31.4 LEP CAVIN1 BSCL2 AGPAT2
3 lipodystrophy, congenital generalized, type 4 31.1 CAVIN1 BSCL2 AGPAT2
4 lipodystrophy, congenital generalized, type 3 30.6 LPIN1 CAVIN1 BSCL2 AGPAT2
5 berardinelli-seip congenital lipodystrophy 30.2 LEP CAVIN1 BSCL2 AGPAT2
6 lipodystrophy, congenital generalized, type 2 30.2 LPIN1 LEP GZMB GPAT3 CAVIN1 BSCL2
7 congenital generalized lipodystrophy 30.1 LPIN1 LEP GZMB GPAT3 CAVIN1 BSCL2
8 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.0 LPIN1 LEP BSCL2 AGPAT2
9 aredyld 11.6
10 hypertriglyceridemia, familial 10.4
11 epilepsy 10.4
12 acanthosis nigricans 10.3
13 myoclonic epilepsy of unverricht and lundborg 10.3
14 polycystic ovary syndrome 10.3
15 acromegaly 10.3
16 early myoclonic encephalopathy 10.3
17 achalasia 10.3
18 non-alcoholic fatty liver disease 10.2
19 hyperinsulinism 10.2
20 hyperglycemia 10.2
21 sotos syndrome 1 10.1
22 ataxia and polyneuropathy, adult-onset 10.1
23 microvascular complications of diabetes 1 10.1
24 charcot-marie-tooth disease, axonal, type 2e 10.1
25 microvascular complications of diabetes 2 10.1
26 alacrima, achalasia, and mental retardation syndrome 10.1
27 proteinuria, chronic benign 10.1
28 portal hypertension 10.1
29 hyperandrogenism 10.1
30 diabetic polyneuropathy 10.1
31 uveitis 10.1
32 polyneuropathy 10.1
33 essential thrombocythemia 10.1
34 myeloproliferative neoplasm 10.1
35 thrombocytosis 10.1
36 necrobiosis lipoidica 10.1
37 dystonia 10.1
38 chronic kidney disease 10.1
39 periodontitis 10.1
40 progressive myoclonus epilepsy 10.1
41 learning disability 10.1
42 iridocyclitis 10.1
43 fatty liver disease 10.1
44 myoclonus epilepsy 10.1
45 splenomegaly 10.1
46 myoclonus 10.1
47 overgrowth syndrome 10.1
48 type 1 diabetes mellitus 10.1
49 fatty liver disease, nonalcoholic 1 10.1
50 non-alcoholic steatohepatitis 10.1

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

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

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 cardiomyopathy 31 occasional (7.5%) HP:0001638
2 splenomegaly 31 HP:0001744
3 hepatomegaly 31 HP:0002240
4 macrotia 31 HP:0000400
5 mandibular prognathia 31 HP:0000303
6 umbilical hernia 31 HP:0001537
7 hypertriglyceridemia 31 HP:0002155
8 hepatic steatosis 31 HP:0001397
9 elevated hepatic transaminase 31 HP:0002910
10 hyperinsulinemia 31 HP:0000842
11 cirrhosis 31 HP:0001394
12 lipodystrophy 31 HP:0009125
13 polycystic ovaries 31 HP:0000147
14 nephrolithiasis 31 HP:0000787
15 tall stature 31 HP:0000098
16 triangular face 31 HP:0000325
17 acanthosis nigricans 31 HP:0000956
18 large hands 31 HP:0001176
19 accelerated skeletal maturation 31 HP:0005616
20 hirsutism 31 HP:0001007
21 polyphagia 31 HP:0002591
22 long foot 31 HP:0001833
23 clitoral hypertrophy 31 HP:0008665
24 decreased fertility in females 31 HP:0000868
25 insulin-resistant diabetes mellitus at puberty 31 HP:0000877
26 reduced subcutaneous adipose tissue 31 HP:0003758
27 decreased serum leptin 31 HP:0003292
28 acute pancreatitis 31 HP:0001735
29 labial hypertrophy 31 HP:0000065
30 reduced intraabdominal adipose tissue 31 HP:0025128
31 prominent umbilicus 31 HP:0001544
32 cystic angiomatosis of bone 31 HP:0002833
33 generalized muscular appearance from birth 31 HP:0003716
34 reduced intrathoracic adipose tissue 31 HP:0003809

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Spleen:
splenomegaly

Abdomen External Features:
umbilical hernia
prominent umbilicus

Genitourinary Internal Genitalia Female:
polycystic ovaries
decreased fertility in females

Genitourinary External Genitalia Female:
clitoromegaly
labial hypertrophy

Skeletal Hands:
large hands

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

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 Kidneys:
nephrolithiasis

Skin Nails Hair Skin:
acanthosis nigricans

Skin Nails Hair Hair:
hirsutism

Muscle Soft Tissue:
nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)
generalized muscular appearance from birth
hernias
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 (Updated 05-Apr-2021)

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


myalgia

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.35 AGPAT2 BSCL2 GPAT3 LEP LPIN1
2 liver/biliary system MP:0005370 9.02 AGPAT2 BSCL2 GPAT3 LEP LPIN1

Drugs & Therapeutics for Lipodystrophy, Congenital Generalized, Type 1

Drugs for Lipodystrophy, Congenital Generalized, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Empagliflozin Approved Phase 3 864070-44-0
2 insulin Phase 3
3 Insulin, Globin Zinc Phase 3
4 Sodium-Glucose Transporter 2 Inhibitors Phase 3
5 Hypoglycemic Agents Phase 3
6 Antibodies Phase 2
7 Immunoglobulins Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A 36-Month, Multicenter, Open Label Phase 4 Study to Evaluate the Immunogenicity of Daily SC Metreleptin Treatment in Patients With Generalized Lipodystrophy Recruiting NCT04026178 Phase 4 Metreleptin
2 Double-Blind, Placebo-Controlled Trial of Leptin Replacement Therapy in Patients With Lipodystrophy Completed NCT00896298 Phase 2, Phase 3 Leptin;Placebo
3 A Multicenter, Open-label, Single-arm, Extension Study With Regard to the Safety and Efficacy of Empagliflozin in Patients With Refractory Diabetes Mellitus With Insulin Resistance (EMPIRE-02) Recruiting NCT04221152 Phase 3 Empagliflozin Tablets
4 Compassionate Use of Metreleptin in Previously-Treated Patients With Generalized Lipodystrophy Active, not recruiting NCT02262832 Phase 3 Metreleptin
5 A Multicenter, Open-label, Single-arm Study With Regard to the Efficacy and Safety of Empagliflozin in Patients With Refractory Diabetes Mellitus With Insulin Resistance Active, not recruiting NCT04018365 Phase 3 Empagliflozin Tablets
6 A Randomized, Double-Blind, Placebo-Controlled Study of REGN4461, a Leptin Receptor Agonist Antibody, in Patients With Generalized Lipodystrophy Active, not recruiting NCT04159415 Phase 2 Placebo;Low-Dose REGN4461;High-dose REGN4461
7 Lipodystrophy Connect Patient Registry Completed NCT02577952
8 Osse Registry for Patients With Lipodystrophy Run by the European Consortium of Lipodystrophies (ECLip) Recruiting NCT03553420
9 Expanded Access to REGN4461 for Patients With 1) Generalized Lipodystrophy, 2) Partial Lipodystrophy or 3) Monogenic Obesity Due to LEP or LEPR Loss of Function Available NCT04710056 REGN4461

Search 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:

40
Bone, Liver

Publications for Lipodystrophy, Congenital Generalized, Type 1

Articles related to Lipodystrophy, Congenital Generalized, Type 1:

(show all 40)
# Title Authors PMID Year
1
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. 6 57
15181077 2004
2
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. 57 6
11967537 2002
3
Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum. 57
26072926 2016
4
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. 57
20300641 2010
5
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. 57
18211975 2008
6
Efficacy and safety of leptin-replacement therapy and possible mechanisms of leptin actions in patients with generalized lipodystrophy. 57
17118991 2007
7
Acquired and inherited lipodystrophies. 57
15028826 2004
8
Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil. 6
14715872 2004
9
Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. 57
14602785 2003
10
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. 57
14557463 2003
11
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. 57
12362029 2002
12
Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman. 57
12116229 2002
13
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. 57
11479539 2001
14
Leptin reverses insulin resistance and diabetes mellitus in mice with congenital lipodystrophy. 57
10485707 1999
15
A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. 57
10487716 1999
16
Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy. 57
9784493 1998
17
Congenital total lipodystrophy and peripheral pulmonary artery stenosis. 57
9196367 1997
18
Generalized lipodystrophy, congenital and acquired (lipoatrophy). 57
8783769 1996
19
Cardiac findings in generalized lipodystrophy. 57
8783771 1996
20
Congenital lipodystrophy. A case report. 57
7404169 1980
21
Congenital lipodystrophy. II. Association with polycystic ovarian disease. 57
480016 1979
22
Congenital lipodystrophy: An endocrine study in three siblings. I. Disorders of carbohydrate metabolism. 57
209163 1978
23
Decreased binding of insulin to its receptor in patients with congenital generalized lipodystrophy. 57
831106 1977
24
The myopahtology of congenital generalized lipodystrophy light and electron microscopic observations. 57
1011408 1976
25
Congenital generalized lipodystrophy accompanied by cystic angiomatosis. 57
5673170 1968
26
Lipoatrophic diabetes. 57
5929541 1966
27
GENERALIZED LIPODYSTROPHY. 57
14065985 1963
28
Lipodystrophic muscular hypertrophy. 57
13750097 1961
29
Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome? 57
14444642 1959
30
An undiagnosed endocrinometabolic syndrome: report of 2 cases. 57
13130666 1954
31
Lipodystrophy and hepatomegaly, with diabetes, lipaemia, and other metabolic disturbances; a case throwing new light on the action of insulin. 57
20982387 1946
32
A novel AGPAT2 mutation associated with a case of late-diagnosed congenital generalized lipodystrophy type 1. 61
33389126 2021
33
Absence of AGPAT2 impairs brown adipogenesis, increases IFN stimulated gene expression and alters mitochondrial morphology. 61
32810486 2020
34
[Identification of a novel AGPAT2 variant in a Chinese patient with congenital generalized lipodystrophy type 1]. 61
32924125 2020
35
[Multiple subcutaneous nodules for 46 days in an infant aged 66 days]. 61
32800040 2020
36
Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy. 61
32685188 2020
37
A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy 61
30563316 2019
38
Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study. 61
28754454 2017
39
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1. 61
22902344 2012
40
Energy balance in congenital generalized lipodystrophy type I. 61
18640396 2008

Variations for Lipodystrophy, Congenital Generalized, Type 1

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

6 (show top 50) (show all 101)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AGPAT2 NM_006412.4(AGPAT2):c.683T>C (p.Leu228Pro) SNV Pathogenic 6627 rs104894100 GRCh37: 9:139568358-139568358
GRCh38: 9:136673906-136673906
2 AGPAT2 NM_006412.4(AGPAT2):c.643A>T (p.Lys215Ter) SNV Pathogenic 6629 rs121908925 GRCh37: 9:139569205-139569205
GRCh38: 9:136674753-136674753
3 AGPAT2 NM_006412.4(AGPAT2):c.570C>A (p.Tyr190Ter) SNV Pathogenic 6631 rs121908926 GRCh37: 9:139571055-139571055
GRCh38: 9:136676603-136676603
4 AGPAT2 NM_006412.4(AGPAT2):c.366_588+534del Deletion Pathogenic 6632 GRCh37: 9:139570503-139571539
GRCh38: 9:136676051-136677087
5 AGPAT2 NM_006412.4(AGPAT2):c.406G>A (p.Gly136Arg) SNV Pathogenic 210104 rs797045222 GRCh37: 9:139571499-139571499
GRCh38: 9:136677047-136677047
6 AGPAT2 NM_006412.4(AGPAT2):c.538del (p.Asp180fs) Deletion Pathogenic 372109 rs1057517653 GRCh37: 9:139571087-139571087
GRCh38: 9:136676635-136676635
7 AGPAT2 NM_006412.4(AGPAT2):c.661+2T>G SNV Pathogenic 372110 rs1057517654 GRCh37: 9:139569185-139569185
GRCh38: 9:136674733-136674733
8 AGPAT2 NM_006412.3(AGPAT2):c.(316+1_317-1)_(588+1_589-1)del (p.Leu107AlafsTer279) Deletion Pathogenic 372107 GRCh37:
GRCh38:
9 AGPAT2 NM_006412.4(AGPAT2):c.183-2A>G SNV Pathogenic 372102 rs1057517649 GRCh37: 9:139572010-139572010
GRCh38: 9:136677558-136677558
10 AGPAT2 NM_006412.4(AGPAT2):c.492+1G>A SNV Pathogenic 372106 rs933422777 GRCh37: 9:139571412-139571412
GRCh38: 9:136676960-136676960
11 AGPAT2 NM_006412.4(AGPAT2):c.182+1G>A SNV Pathogenic 372103 rs1057517650 GRCh37: 9:139581627-139581627
GRCh38: 9:136687175-136687175
12 AGPAT2 NM_006412.4(AGPAT2):c.503G>A (p.Trp168Ter) SNV Pathogenic 374338 rs1057518714 GRCh37: 9:139571122-139571122
GRCh38: 9:136676670-136676670
13 AGPAT2 NM_006412.4(AGPAT2):c.513del (p.Glu172fs) Deletion Pathogenic 549711 rs1564290914 GRCh37: 9:139571112-139571112
GRCh38: 9:136676660-136676660
14 AGPAT2 NM_006412.4(AGPAT2):c.622_626del (p.Ser208fs) Deletion Pathogenic 549712 rs1564290079 GRCh37: 9:139569222-139569226
GRCh38: 9:136674770-136674774
15 AGPAT2 NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter) SNV Pathogenic 6624 rs104894093 GRCh37: 9:139571989-139571989
GRCh38: 9:136677537-136677537
16 AGPAT2 NM_006412.4(AGPAT2):c.589-2A>G SNV Pathogenic 6625 rs116807569 GRCh37: 9:139569261-139569261
GRCh38: 9:136674809-136674809
17 AGPAT2 NM_006412.4(AGPAT2):c.377dup (p.Pro128fs) Duplication Pathogenic 6626 rs387906355 GRCh37: 9:139571527-139571528
GRCh38: 9:136677075-136677076
18 AGPAT2 NM_006412.4(AGPAT2):c.415_417TTC[1] (p.Phe140del) Microsatellite Pathogenic 6628 rs387906356 GRCh37: 9:139571485-139571487
GRCh38: 9:136677033-136677035
19 AGPAT2 NM_006412.4(AGPAT2):c.493-1G>C SNV Pathogenic 6630 rs606231168 GRCh37: 9:139571133-139571133
GRCh38: 9:136676681-136676681
20 AGPAT2 NM_006412.4(AGPAT2):c.299G>A (p.Ser100Asn) SNV Pathogenic 372105 rs764260414 GRCh37: 9:139571892-139571892
GRCh38: 9:136677440-136677440
21 AGPAT2 NM_006412.4(AGPAT2):c.755_763del (p.Met252_Thr254del) Deletion Pathogenic 372113 rs1057517656 GRCh37: 9:139568278-139568286
GRCh38: 9:136673826-136673834
22 AGPAT2 NM_006412.4(AGPAT2):c.194G>A (p.Trp65Ter) SNV Pathogenic 372104 rs1057517651 GRCh37: 9:139571997-139571997
GRCh38: 9:136677545-136677545
23 AGPAT2 NM_006412.4(AGPAT2):c.676C>T (p.Gln226Ter) SNV Pathogenic 372111 rs1057517655 GRCh37: 9:139568365-139568365
GRCh38: 9:136673913-136673913
24 AGPAT2 NM_006412.4(AGPAT2):c.713C>G (p.Ala238Gly) SNV Pathogenic 372112 rs200656731 GRCh37: 9:139568328-139568328
GRCh38: 9:136673876-136673876
25 AGPAT2 NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys) SNV Pathogenic 372108 rs748157664 GRCh37: 9:139571111-139571111
GRCh38: 9:136676659-136676659
26 AGPAT2 NM_006412.4(AGPAT2):c.335del (p.Pro112fs) Deletion Likely pathogenic 800897 rs1588263957 GRCh37: 9:139571570-139571570
GRCh38: 9:136677118-136677118
27 AGPAT2 NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter) SNV Conflicting interpretations of pathogenicity 365922 rs138994150 GRCh37: 9:139569202-139569202
GRCh38: 9:136674750-136674750
28 AGPAT2 NM_006412.4(AGPAT2):c.*34C>G SNV Uncertain significance 915049 GRCh37: 9:139568170-139568170
GRCh38: 9:136673718-136673718
29 AGPAT2 NM_006412.4(AGPAT2):c.813G>T (p.Gly271=) SNV Uncertain significance 915050 GRCh37: 9:139568228-139568228
GRCh38: 9:136673776-136673776
30 AGPAT2 NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu) SNV Uncertain significance 365928 rs886063722 GRCh37: 9:139571570-139571570
GRCh38: 9:136677118-136677118
31 AGPAT2 NM_006412.4(AGPAT2):c.762C>T (p.Thr254=) SNV Uncertain significance 710852 rs146973799 GRCh37: 9:139568279-139568279
GRCh38: 9:136673827-136673827
32 AGPAT2 NM_006412.4(AGPAT2):c.749G>A (p.Arg250Gln) SNV Uncertain significance 912322 GRCh37: 9:139568292-139568292
GRCh38: 9:136673840-136673840
33 AGPAT2 NM_006412.4(AGPAT2):c.*488C>T SNV Uncertain significance 913042 GRCh37: 9:139567716-139567716
GRCh38: 9:136673264-136673264
34 AGPAT2 NM_006412.4(AGPAT2):c.*411C>T SNV Uncertain significance 913408 GRCh37: 9:139567793-139567793
GRCh38: 9:136673341-136673341
35 AGPAT2 NM_006412.4(AGPAT2):c.*382C>T SNV Uncertain significance 913409 GRCh37: 9:139567822-139567822
GRCh38: 9:136673370-136673370
36 AGPAT2 NM_006412.4(AGPAT2):c.*277C>T SNV Uncertain significance 913410 GRCh37: 9:139567927-139567927
GRCh38: 9:136673475-136673475
37 AGPAT2 NM_006412.4(AGPAT2):c.698C>A (p.Thr233Asn) SNV Uncertain significance 636331 rs536777709 GRCh37: 9:139568343-139568343
GRCh38: 9:136673891-136673891
38 AGPAT2 NM_006412.4(AGPAT2):c.492+4_492+7del Deletion Uncertain significance 374348 rs1057518715 GRCh37: 9:139571406-139571409
GRCh38: 9:136676954-136676957
39 AGPAT2 NM_006412.4(AGPAT2):c.-18C>A SNV Uncertain significance 912370 GRCh37: 9:139581827-139581827
GRCh38: 9:136687375-136687375
40 AGPAT2 NM_006412.4(AGPAT2):c.-19T>C SNV Uncertain significance 912371 GRCh37: 9:139581828-139581828
GRCh38: 9:136687376-136687376
41 AGPAT2 NM_006412.4(AGPAT2):c.*232C>T SNV Uncertain significance 913412 GRCh37: 9:139567972-139567972
GRCh38: 9:136673520-136673520
42 AGPAT2 NM_006412.4(AGPAT2):c.415T>G (p.Phe139Val) SNV Uncertain significance 913828 GRCh37: 9:139571490-139571490
GRCh38: 9:136677038-136677038
43 AGPAT2 NM_006412.4(AGPAT2):c.397A>G (p.Met133Val) SNV Uncertain significance 913829 GRCh37: 9:139571508-139571508
GRCh38: 9:136677056-136677056
44 AGPAT2 NM_006412.4(AGPAT2):c.361C>G (p.Arg121Gly) SNV Uncertain significance 913830 GRCh37: 9:139571544-139571544
GRCh38: 9:136677092-136677092
45 AGPAT2 NM_006412.4(AGPAT2):c.*211G>A SNV Uncertain significance 914525 GRCh37: 9:139567993-139567993
GRCh38: 9:136673541-136673541
46 AGPAT2 NM_006412.4(AGPAT2):c.647A>T (p.Lys216Met) SNV Uncertain significance 913447 GRCh37: 9:139569201-139569201
GRCh38: 9:136674749-136674749
47 AGPAT2 NM_006412.4(AGPAT2):c.493-7C>T SNV Uncertain significance 913448 GRCh37: 9:139571139-139571139
GRCh38: 9:136676687-136676687
48 AGPAT2 NM_006412.4(AGPAT2):c.*572C>T SNV Uncertain significance 914995 GRCh37: 9:139567632-139567632
GRCh38: 9:136673180-136673180
49 AGPAT2 NM_006412.4(AGPAT2):c.788C>T (p.Pro263Leu) SNV Uncertain significance 915051 GRCh37: 9:139568253-139568253
GRCh38: 9:136673801-136673801
50 AGPAT2 NM_006412.4(AGPAT2):c.786C>T (p.Thr262=) SNV Uncertain significance 915052 GRCh37: 9:139568255-139568255
GRCh38: 9:136673803-136673803

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

72
# 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

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.34 LPIN1 GPAT3 AGPAT2
2
Show member pathways
12.23 LPIN1 LEP GPAT3 AGPAT2
3 12.03 LPIN1 BSCL2 AGPAT2
4
Show member pathways
11.95 LPIN1 GPAT3 AGPAT2
5
Show member pathways
11.25 GPAT3 AGPAT2
6 11.04 LPIN1 LEP BSCL2 AGPAT2
7 10.92 LPIN1 GPAT3 AGPAT2
8 10.6 LPIN1 LEP

GO Terms for Lipodystrophy, Congenital Generalized, Type 1

Cellular components related to Lipodystrophy, Congenital Generalized, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.26 LPIN1 GPAT3 BSCL2 AGPAT2
2 endoplasmic reticulum GO:0005783 9.02 LPIN1 GPAT3 CAVIN1 BSCL2 AGPAT2

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to insulin stimulus GO:0032869 9.46 LPIN1 LEP
2 phospholipid biosynthetic process GO:0008654 9.43 GPAT3 AGPAT2
3 positive regulation of cytokine production GO:0001819 9.4 LEP AGPAT2
4 phosphatidic acid biosynthetic process GO:0006654 9.37 GPAT3 AGPAT2
5 triglyceride biosynthetic process GO:0019432 9.32 LPIN1 GPAT3
6 fatty acid catabolic process GO:0009062 9.26 LPIN1 LEP
7 CDP-diacylglycerol biosynthetic process GO:0016024 9.16 GPAT3 AGPAT2
8 positive regulation of cold-induced thermogenesis GO:0120162 9.13 LPIN1 LEP BSCL2
9 lipid metabolic process GO:0006629 9.02 LPIN1 LEP GPAT3 BSCL2 AGPAT2

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

# Name GO ID Score Top Affiliating Genes
1 1-acylglycerol-3-phosphate O-acyltransferase activity GO:0003841 8.62 GPAT3 AGPAT2

Sources for Lipodystrophy, Congenital Generalized, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....