CGL1
MCID: LPD032
MIFTS: 54

Lipodystrophy, Congenital Generalized, Type 1 (CGL1)

Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 1

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

Name: Lipodystrophy, Congenital Generalized, Type 1 57 12
Congenital Generalized Lipodystrophy Type 1 11 19 28 5 14 71
Bscl1 57 19 73
Berardinelli-Seip Congenital Lipodystrophy, Type 1 57 11
Berardinelli-Seip Congenital Lipodystrophy Type 1 19 73
Brunzell Syndrome Agpat2-Related 11 73
Cgl1 57 73
Lipodystrophy, Berardinelli-Seip Congenital, Type 1 57
Total Lipodystrophy and Acromegaloid Gigantism 73
Lipodystrophy, Generalized, Congenital, Type 1 38
Congenital Generalized Lipodystrophy 1 73
Familial Partial Lipodystrophy, Type 2 71
Familial Generalized Lipodystrophy 71
Brunzell Syndrome, Agpat2-Related 57
Agpat2-Related Brunzell Syndrome 19
Lipodystrophy Berardinelli Type 73
Lipoatrophic Diabetes Mellitus 71
Berardinelli-Seip Syndrome 73
Lipoatrophic Diabetes 73

Characteristics:


Inheritance:

Autosomal recessive 57

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 08-Dec-2022)

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 Glucose / Energy Metabolism. The drugs Empagliflozin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and adipocyte, and related phenotypes are cardiomyopathy and diabetes mellitus

UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.

Disease Ontology: 11 A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.

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 143)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, familial partial, type 2 32.5 CAVIN1 BSCL2 AGPAT2
2 acquired generalized lipodystrophy 31.8 CAVIN1 BSCL2 AGPAT2
3 lipodystrophy, congenital generalized, type 3 31.5 CAVIN1 BSCL2 AGPAT2
4 lipodystrophy, congenital generalized, type 4 31.3 CAVIN1 BSCL2 AGPAT2
5 berardinelli-seip congenital lipodystrophy 30.9 BSCL2 AGPAT2
6 lipodystrophy, congenital generalized, type 2 30.9 LPIN1 GZMB CAVIN1 BSCL2 AGPAT2 AGPAT1
7 congenital generalized lipodystrophy 30.7 LPIN1 GZMB CAVIN1 BSCL2 AGPAT2 AGPAT1
8 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.2 BSCL2 AGPAT2
9 familial partial lipodystrophy 30.1 BSCL2 AGPAT2
10 achalasia 30.0 LPIN1 GZMB
11 aredyld 11.7
12 breasts and/or nipples, aplasia or hypoplasia of, 1 11.1
13 type 2 diabetes mellitus 10.4
14 hypertriglyceridemia 1 10.4
15 diabetes mellitus 10.4
16 myoclonic epilepsy of unverricht and lundborg 10.4
17 epilepsy 10.4
18 acromegaly 10.4
19 progressive myoclonus epilepsy 10.4
20 acanthosis nigricans 10.3
21 early myoclonic encephalopathy 10.3
22 unverricht-lundborg syndrome 10.3
23 learning disability 10.3
24 turner syndrome 10.3
25 leptin deficiency or dysfunction 10.2
26 type 1 diabetes mellitus 10.2
27 microvascular complications of diabetes 1 10.2
28 non-alcoholic fatty liver disease 10.2
29 hyperinsulinism 10.2
30 hyperglycemia 10.2
31 atrial standstill 1 10.1
32 sotos syndrome 10.1
33 beckwith-wiedemann syndrome 10.1
34 photoparoxysmal response 1 10.1
35 immunoglobulin a deficiency 1 10.1
36 attention deficit-hyperactivity disorder 10.1
37 hypercholesterolemia, familial, 1 10.1
38 cardiomyopathy, familial hypertrophic, 1 10.1
39 ceroid lipofuscinosis, neuronal, 5 10.1
40 ataxia with vitamin e deficiency 10.1
41 immunoglobulin alpha deficiency 10.1
42 portal hypertension 10.1
43 hyperandrogenism 10.1
44 hypertrophic cardiomyopathy 10.1
45 diabetic polyneuropathy 10.1
46 uveitis 10.1
47 polyneuropathy 10.1
48 anterior uveitis 10.1
49 childhood absence epilepsy 10.1
50 essential thrombocythemia 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:

30 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cardiomyopathy 30 Occasional (7.5%) HP:0001638
2 diabetes mellitus 30 Very rare (1%) HP:0000819
3 hepatomegaly 30 Very rare (1%) HP:0002240
4 acanthosis nigricans 30 Very rare (1%) HP:0000956
5 decreased serum leptin 30 Very rare (1%) HP:0003292
6 splenomegaly 30 HP:0001744
7 macrotia 30 HP:0000400
8 mandibular prognathia 30 HP:0000303
9 umbilical hernia 30 HP:0001537
10 hypertriglyceridemia 30 HP:0002155
11 hepatic steatosis 30 HP:0001397
12 elevated hepatic transaminase 30 HP:0002910
13 hyperinsulinemia 30 HP:0000842
14 cirrhosis 30 HP:0001394
15 nephrolithiasis 30 HP:0000787
16 lipodystrophy 30 HP:0009125
17 polycystic ovaries 30 HP:0000147
18 tall stature 30 HP:0000098
19 triangular face 30 HP:0000325
20 large hands 30 HP:0001176
21 accelerated skeletal maturation 30 HP:0005616
22 hirsutism 30 HP:0001007
23 polyphagia 30 HP:0002591
24 long foot 30 HP:0001833
25 clitoral hypertrophy 30 HP:0008665
26 decreased fertility in females 30 HP:0000868
27 acute pancreatitis 30 HP:0001735
28 insulin-resistant diabetes mellitus at puberty 30 HP:0000877
29 reduced subcutaneous adipose tissue 30 HP:0003758
30 labial hypertrophy 30 HP:0000065
31 reduced intraabdominal adipose tissue 30 HP:0025128
32 prominent umbilicus 30 HP:0001544
33 cystic angiomatosis of bone 30 HP:0002833
34 generalized muscular appearance from birth 30 HP:0003716
35 reduced intrathoracic adipose tissue 30 HP:0003809

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Abdomen Spleen:
splenomegaly

Abdomen External Features:
umbilical hernia
prominent umbilicus

Genitourinary Kidneys:
nephrolithiasis

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

Cardiovascular Heart:
cardiomyopathy (in some patients)

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

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

Abdomen Gastrointestinal:
voracious appetite

Growth Height:
increased linear growth

Clinical features from OMIM®:

608594 (Updated 08-Dec-2022)

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


myalgia

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 AGPAT1 AGPAT2 BSCL2 CAVIN1 GZMB LPIN1
2 adipose tissue MP:0005375 9.46 AGPAT1 AGPAT2 BSCL2 LPIN1
3 growth/size/body region MP:0005378 9.17 AGPAT1 AGPAT2 BSCL2 CAVIN1 LPIN1 MOGAT1

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 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Empagliflozin Approved Phase 3 864070-44-0 73151030 11949646
2 Insulin, Globin Zinc Phase 3
3
Insulin Phase 3
4 Sodium-Glucose Transporter 2 Inhibitors Phase 3
5 Hypoglycemic Agents Phase 3
6
Hydrocortisone succinate Approved 2203-97-6 3643
7
Hydrocortisone acetate Approved, Vet_approved 50-03-3
8
Hydrocortisone Approved, Vet_approved 50-23-7 3640 5754
9 Hydrocortisone 17-butyrate 21-propionate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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) Active, not recruiting NCT04221152 Phase 3 Empagliflozin Tablets
2 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
3 Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2 Recruiting NCT04845165

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

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 28 AGPAT2

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 1

Organs/tissues related to Lipodystrophy, Congenital Generalized, Type 1:

MalaCards : Bone, Liver, Adipocyte, Ovary, Skin, Prostate, Endothelial
ODiseA: Adipose-Subcutaneous, Adipose, Adipose-Visceral

Publications for Lipodystrophy, Congenital Generalized, Type 1

Articles related to Lipodystrophy, Congenital Generalized, Type 1:

(show top 50) (show all 362)
# Title Authors PMID Year
1
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. 57 5
15181077 2004
2
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. 57 5
11967537 2002
3
Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum. 62 57
26072926 2016
4
Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. 62 57
14602785 2003
5
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. 62 57
12362029 2002
6
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. 62 57
11479539 2001
7
A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. 62 57
10487716 1999
8
Generalized lipodystrophy, congenital (Berardinelli-Seip syndrome) and aquired (lipoatrophy, Seip-Lawrence syndrome). Proceedings of a symposium. Oslo, Norway, 6 June 1996. 62 57
8963070 1996
9
Lipoatrophic diabetes. 62 57
5929541 1966
10
Divergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. a clinical, genetic and in silico study. 5
24498038 2014
11
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
12
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. 57
18211975 2008
13
Efficacy and safety of leptin-replacement therapy and possible mechanisms of leptin actions in patients with generalized lipodystrophy. 57
17118991 2007
14
Acquired and inherited lipodystrophies. 57
15028826 2004
15
Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil. 5
14715872 2004
16
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. 57
14557463 2003
17
Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman. 57
12116229 2002
18
Leptin reverses insulin resistance and diabetes mellitus in mice with congenital lipodystrophy. 57
10485707 1999
19
Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy. 57
9784493 1998
20
Congenital total lipodystrophy and peripheral pulmonary artery stenosis. 57
9196367 1997
21
Cardiac findings in generalized lipodystrophy. 57
8783771 1996
22
Generalized lipodystrophy, congenital and acquired (lipoatrophy). 57
8783769 1996
23
Congenital lipodystrophy. A case report. 57
7404169 1980
24
Congenital lipodystrophy. II. Association with polycystic ovarian disease. 57
480016 1979
25
Congenital lipodystrophy: An endocrine study in three siblings. I. Disorders of carbohydrate metabolism. 57
209163 1978
26
Decreased binding of insulin to its receptor in patients with congenital generalized lipodystrophy. 57
831106 1977
27
The myopahtology of congenital generalized lipodystrophy light and electron microscopic observations. 57
1011408 1976
28
Congenital generalized lipodystrophy. Report on one case, with special reference to postmortem findings. 57
1251733 1976
29
Congenital generalized lipodystrophy accompanied by cystic angiomatosis. 57
5673170 1968
30
Congenital lipodystrophic diabetes with acanthosis nigricans. The Seip-Lawrence syndrome. 57
9626079 1965
31
GENERALIZED LIPODYSTROPHY. 57
14065985 1963
32
Lipodystrophic muscular hypertrophy. 57
13750097 1961
33
Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome? 57
14444642 1959
34
An undiagnosed endocrinometabolic syndrome: report of 2 cases. 57
13130666 1954
35
Lipodystrophy and hepatomegaly, with diabetes, lipaemia, and other metabolic disturbances; a case throwing new light on the action of insulin. 57
20982387 1946
36
Gene therapy restores adipose tissue and metabolic health in a pre-clinical mouse model of lipodystrophy. 62
36320417 2022
37
Lipoatrophic diabetes in Familial Partial Lipodystrophy type 2: from insulin resistance to diabetes. 62
36400409 2022
38
Face-sparing Congenital Generalized Lipodystrophy Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia. 62
35857714 2022
39
Looking for the skeleton in the closet-rare genetic diagnoses in patients with diabetes and skeletal manifestations. 62
35137278 2022
40
Berardinelli Seip Syndrome: A rare case report. 62
35713067 2022
41
Identification of Radiation-Induced miRNA Biomarkers Using the CGL1 Cell Model System. 62
35621492 2022
42
Familial Partial Lipodystrophy-Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3. 62
35626278 2022
43
Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report. 62
35474974 2022
44
Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes. 62
35341481 2022
45
Molecular Mechanism by Which the GATA Transcription Factor CcNsdD2 Regulates the Developmental Fate of Coprinopsis cinerea under Dark or Light Conditions. 62
35100879 2022
46
Generalized lipoatrophy syndromes. 62
34562560 2021
47
Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries. 62
34318892 2021
48
EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence. 62
34342583 2021
49
Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome. 62
33089476 2021
50
Agglutination Activity of Fasciola gigantica DM9-1, a Mannose-Binding Lectin. 62
33951774 2021

Variations for Lipodystrophy, Congenital Generalized, Type 1

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

5 (show top 50) (show all 107)
# 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 DEL Pathogenic
6632 GRCh37: 9:139570503-139571539
GRCh38: 9:136676051-136677087
5 AGPAT2 NM_006412.4(AGPAT2):c.503G>A (p.Trp168Ter) SNV Pathogenic
374338 rs1057518714 GRCh37: 9:139571122-139571122
GRCh38: 9:136676670-136676670
6 AGPAT2 NM_006412.4(AGPAT2):c.513del (p.Glu172fs) DEL Pathogenic
549711 rs1564290914 GRCh37: 9:139571112-139571112
GRCh38: 9:136676660-136676660
7 AGPAT2 NM_006412.4(AGPAT2):c.622_626del (p.Ser208fs) DEL Pathogenic
549712 rs1564290079 GRCh37: 9:139569222-139569226
GRCh38: 9:136674770-136674774
8 AGPAT2 NM_006412.4(AGPAT2):c.158del (p.Gly53fs) DEL Pathogenic
1322925 GRCh37: 9:139581652-139581652
GRCh38: 9:136687200-136687200
9 AGPAT2 NM_006412.4(AGPAT2):c.369_372del (p.Leu124fs) DEL Pathogenic
1072415 GRCh37: 9:139571533-139571536
GRCh38: 9:136677081-136677084
10 AGPAT2 NM_006412.4(AGPAT2):c.38T>A (p.Leu13Ter) SNV Pathogenic
1687558 GRCh37: 9:139581772-139581772
GRCh38: 9:136687320-136687320
11 AGPAT2 NM_006412.4(AGPAT2):c.406G>A (p.Gly136Arg) SNV Pathogenic
210104 rs797045222 GRCh37: 9:139571499-139571499
GRCh38: 9:136677047-136677047
12 AGPAT2 NM_006412.3(AGPAT2):c.(316+1_317-1)_(588+1_589-1)del (p.Leu107AlafsTer279) DEL Pathogenic
372107 GRCh37:
GRCh38:
13 AGPAT2 NM_006412.4(AGPAT2):c.589-2A>G SNV Pathogenic
6625 rs116807569 GRCh37: 9:139569261-139569261
GRCh38: 9:136674809-136674809
14 AGPAT2 NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter) SNV Pathogenic
6624 rs104894093 GRCh37: 9:139571989-139571989
GRCh38: 9:136677537-136677537
15 AGPAT2 NM_006412.4(AGPAT2):c.377dup (p.Pro128fs) DUP Pathogenic
6626 rs387906355 GRCh37: 9:139571527-139571528
GRCh38: 9:136677075-136677076
16 AGPAT2 NM_006412.4(AGPAT2):c.415TTC[1] (p.Phe140del) MICROSAT Pathogenic
6628 rs387906356 GRCh37: 9:139571485-139571487
GRCh38: 9:136677033-136677035
17 AGPAT2 NM_006412.4(AGPAT2):c.299G>A (p.Ser100Asn) SNV Pathogenic
372105 rs764260414 GRCh37: 9:139571892-139571892
GRCh38: 9:136677440-136677440
18 AGPAT2 NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys) SNV Pathogenic
372108 rs748157664 GRCh37: 9:139571111-139571111
GRCh38: 9:136676659-136676659
19 AGPAT2 NM_006412.4(AGPAT2):c.493-1G>C SNV Pathogenic/Likely Pathogenic
6630 rs606231168 GRCh37: 9:139571133-139571133
GRCh38: 9:136676681-136676681
20 AGPAT2 NM_006412.4(AGPAT2):c.335del (p.Pro112fs) DEL Likely Pathogenic
800897 rs1588263957 GRCh37: 9:139571570-139571570
GRCh38: 9:136677118-136677118
21 AGPAT2 NM_006412.4(AGPAT2):c.685G>T (p.Glu229Ter) SNV Likely Pathogenic
1285417 GRCh37: 9:139568356-139568356
GRCh38: 9:136673904-136673904
22 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
23 AGPAT2 NM_006412.4(AGPAT2):c.199G>A (p.Val67Met) SNV Uncertain Significance
393427 rs563539429 GRCh37: 9:139571992-139571992
GRCh38: 9:136677540-136677540
24 AGPAT2 NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu) SNV Uncertain Significance
365928 rs886063722 GRCh37: 9:139571570-139571570
GRCh38: 9:136677118-136677118
25 AGPAT2 NM_006412.4(AGPAT2):c.315G>T (p.Met105Ile) SNV Uncertain Significance
365930 rs746809573 GRCh37: 9:139571876-139571876
GRCh38: 9:136677424-136677424
26 AGPAT2 NM_006412.4(AGPAT2):c.762C>T (p.Thr254=) SNV Uncertain Significance
710852 rs146973799 GRCh37: 9:139568279-139568279
GRCh38: 9:136673827-136673827
27 AGPAT2 NM_006412.4(AGPAT2):c.647A>T (p.Lys216Met) SNV Uncertain Significance
913447 rs143244920 GRCh37: 9:139569201-139569201
GRCh38: 9:136674749-136674749
28 AGPAT2 NM_006412.4(AGPAT2):c.492+4_492+7del DEL Uncertain Significance
374348 rs1057518715 GRCh37: 9:139571406-139571409
GRCh38: 9:136676954-136676957
29 AGPAT2 NM_006412.4(AGPAT2):c.*572C>T SNV Uncertain Significance
914995 rs1037877364 GRCh37: 9:139567632-139567632
GRCh38: 9:136673180-136673180
30 AGPAT2 NM_006412.4(AGPAT2):c.*34C>G SNV Uncertain Significance
915049 rs749592042 GRCh37: 9:139568170-139568170
GRCh38: 9:136673718-136673718
31 AGPAT2 NM_006412.4(AGPAT2):c.813G>T (p.Gly271=) SNV Uncertain Significance
915050 rs759149037 GRCh37: 9:139568228-139568228
GRCh38: 9:136673776-136673776
32 AGPAT2 NM_006412.4(AGPAT2):c.788C>T (p.Pro263Leu) SNV Uncertain Significance
915051 rs17848858 GRCh37: 9:139568253-139568253
GRCh38: 9:136673801-136673801
33 AGPAT2 NM_006412.4(AGPAT2):c.786C>T (p.Thr262=) SNV Uncertain Significance
915052 rs151215253 GRCh37: 9:139568255-139568255
GRCh38: 9:136673803-136673803
34 AGPAT2 NM_006412.4(AGPAT2):c.282C>T (p.Ile94=) SNV Uncertain Significance
915078 rs762040181 GRCh37: 9:139571909-139571909
GRCh38: 9:136677457-136677457
35 AGPAT2 NM_006412.4(AGPAT2):c.269G>A (p.Arg90His) SNV Uncertain Significance
282346 rs142176861 GRCh37: 9:139571922-139571922
GRCh38: 9:136677470-136677470
36 AGPAT2 NM_006412.4(AGPAT2):c.54G>A (p.Val18=) SNV Uncertain Significance
915079 rs140553479 GRCh37: 9:139581756-139581756
GRCh38: 9:136687304-136687304
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.749G>A (p.Arg250Gln) SNV Uncertain Significance
912322 rs368090654 GRCh37: 9:139568292-139568292
GRCh38: 9:136673840-136673840
39 AGPAT2 NM_006412.4(AGPAT2):c.-18C>A SNV Uncertain Significance
912370 rs369999417 GRCh37: 9:139581827-139581827
GRCh38: 9:136687375-136687375
40 AGPAT2 NM_006412.4(AGPAT2):c.-19T>C SNV Uncertain Significance
912371 rs754090246 GRCh37: 9:139581828-139581828
GRCh38: 9:136687376-136687376
41 AGPAT2 NM_006412.4(AGPAT2):c.*488C>T SNV Uncertain Significance
913042 rs541153485 GRCh37: 9:139567716-139567716
GRCh38: 9:136673264-136673264
42 AGPAT2 NM_006412.4(AGPAT2):c.*411C>T SNV Uncertain Significance
913408 rs1564288835 GRCh37: 9:139567793-139567793
GRCh38: 9:136673341-136673341
43 AGPAT2 NM_006412.4(AGPAT2):c.*382C>T SNV Uncertain Significance
913409 rs955418956 GRCh37: 9:139567822-139567822
GRCh38: 9:136673370-136673370
44 AGPAT2 NM_006412.4(AGPAT2):c.*277C>T SNV Uncertain Significance
913410 rs1039011011 GRCh37: 9:139567927-139567927
GRCh38: 9:136673475-136673475
45 AGPAT2 NM_006412.4(AGPAT2):c.*232C>T SNV Uncertain Significance
913412 rs573498539 GRCh37: 9:139567972-139567972
GRCh38: 9:136673520-136673520
46 AGPAT2 NM_006412.4(AGPAT2):c.493-7C>T SNV Uncertain Significance
913448 rs1187808090 GRCh37: 9:139571139-139571139
GRCh38: 9:136676687-136676687
47 AGPAT2 NM_006412.4(AGPAT2):c.415T>G (p.Phe139Val) SNV Uncertain Significance
913828 rs372935354 GRCh37: 9:139571490-139571490
GRCh38: 9:136677038-136677038
48 AGPAT2 NM_006412.4(AGPAT2):c.397A>G (p.Met133Val) SNV Uncertain Significance
913829 rs537737741 GRCh37: 9:139571508-139571508
GRCh38: 9:136677056-136677056
49 AGPAT2 NM_006412.4(AGPAT2):c.361C>G (p.Arg121Gly) SNV Uncertain Significance
913830 rs369878933 GRCh37: 9:139571544-139571544
GRCh38: 9:136677092-136677092
50 AGPAT2 NM_006412.4(AGPAT2):c.*211G>A SNV Uncertain Significance
914525 rs182766891 GRCh37: 9:139567993-139567993
GRCh38: 9:136673541-136673541

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

73
# 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

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 9.65 MOGAT1 LPIN1 BSCL2 AGPAT2 AGPAT1
2 endoplasmic reticulum GO:0005783 9.32 MOGAT1 LPIN1 CAVIN1 BSCL2 AGPAT2 AGPAT1

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

# Name GO ID Score Top Affiliating Genes
1 phospholipid metabolic process GO:0006644 9.71 AGPAT2 AGPAT1
2 triglyceride biosynthetic process GO:0019432 9.62 MOGAT1 LPIN1
3 CDP-diacylglycerol biosynthetic process GO:0016024 9.56 AGPAT2 AGPAT1
4 positive regulation of cytokine-mediated signaling pathway GO:0001961 9.46 AGPAT2 AGPAT1
5 lipid metabolic process GO:0006629 9.43 MOGAT1 LPIN1 BSCL2 AGPAT2 AGPAT1
6 phospholipid biosynthetic process GO:0008654 9.37 AGPAT2 AGPAT1
7 phosphatidic acid biosynthetic process GO:0006654 9.1 LPIN1 AGPAT2 AGPAT1

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 9.26 AGPAT2 AGPAT1
2 acyltransferase activity GO:0016746 8.8 MOGAT1 AGPAT2 AGPAT1

Sources for Lipodystrophy, Congenital Generalized, Type 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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