GCL
MCID: CNG012
MIFTS: 54

Congenital Generalized Lipodystrophy (GCL)

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

Aliases & Classifications for Congenital Generalized Lipodystrophy

MalaCards integrated aliases for Congenital Generalized Lipodystrophy:

Name: Congenital Generalized Lipodystrophy 12 52 25 36 29 6 15 17
Berardinelli-Seip Congenital Lipodystrophy 52 25
Lipodystrophy, Congenital Generalized 25 54
Berardinelli-Seip Syndrome 52 25
Generalized Lipodystrophy 25 29
Brunzell Syndrome 52 25
Bscl 52 25
Congenital Generalized Lipodystrophy Type 2 71
Lipodystrophy, Generalized, Congenital 39
Familial Partial Lipodystrophy, Type 2 71
Generalized Congenital Lipodystrophy 52
Familial Generalized Lipodystrophy 71
Lipoatrophic Diabetes Mellitus 71
Beradinelli-Seip Syndrome 52
Lipoatrophic Diabetes 52
Total Lipodystrophy 25
Seip Syndrome 25
Gcl 52

Classifications:



External Ids:

Disease Ontology 12 DOID:0050585
KEGG 36 H00419
UMLS 71 C0011859 C0221032 C1720860 more

Summaries for Congenital Generalized Lipodystrophy

Genetics Home Reference : 25 Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) is a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems. The signs and symptoms of congenital generalized lipodystrophy are usually apparent from birth or early childhood. One of the most common features is insulin resistance, a condition in which the body's tissues are unable to recognize insulin, a hormone that normally helps to regulate blood sugar levels. Insulin resistance may develop into a more serious disease called diabetes mellitus. Most affected individuals also have high levels of fats called triglycerides circulating in the bloodstream (hypertriglyceridemia), which can lead to the development of small yellow deposits of fat under the skin called eruptive xanthomas and inflammation of the pancreas (pancreatitis). Additionally, congenital generalized lipodystrophy causes an abnormal buildup of fats in the liver (hepatic steatosis), which can result in an enlarged liver (hepatomegaly) and liver failure. Some affected individuals develop a form of heart disease called hypertrophic cardiomyopathy, which can lead to heart failure and an abnormal heart rhythm (arrhythmia) that can cause sudden death. People with congenital generalized lipodystrophy have a distinctive physical appearance. They appear very muscular because they have an almost complete absence of adipose tissue and an overgrowth of muscle tissue. A lack of adipose tissue under the skin also makes the veins appear prominent. Affected individuals tend to have prominent bones above the eyes (orbital ridges), large hands and feet, and a prominent belly button (umbilicus). Affected females may have an enlarged clitoris (clitoromegaly), an increased amount of body hair (hirsutism), irregular menstrual periods, and multiple cysts on the ovaries, which may be related to hormonal changes. Many people with this disorder develop acanthosis nigricans, a skin condition related to high levels of insulin in the bloodstream. Acanthosis nigricans causes the skin in body folds and creases to become thick, dark, and velvety. Researchers have described four types of congenital generalized lipodystrophy, which are distinguished by their genetic cause. The types also have some differences in their typical signs and symptoms. For example, in addition to the features described above, some people with congenital generalized lipodystrophy type 1 develop cysts in the long bones of the arms and legs after puberty. Type 2 can be associated with intellectual disability, which is usually mild to moderate. Type 3 appears to cause poor growth and short stature, along with other health problems. Type 4 is associated with muscle weakness, delayed development, joint abnormalities, a narrowing of the lower part of the stomach (pyloric stenosis), and severe arrhythmia that can lead to sudden death.

MalaCards based summary : Congenital Generalized Lipodystrophy, also known as berardinelli-seip congenital lipodystrophy, is related to lipodystrophy, congenital generalized, type 4 and mandibuloacral dysplasia with type a lipodystrophy, and has symptoms including myalgia An important gene associated with Congenital Generalized Lipodystrophy is AGPAT2 (1-Acylglycerol-3-Phosphate O-Acyltransferase 2), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. The drugs Empagliflozin and Sodium-Glucose Transporter 2 Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and bone, and related phenotypes are behavior/neurological and adipose tissue

Disease Ontology : 12 A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance.

NIH Rare Diseases : 52 Congenital generalized lipodystrophy is a rare disease characterized by a generalized lack of fat (adipose tissue ) in the body. It is part of a group of diseases known as lipodystrophies. Signs and symptoms are noticed from birth (congenital) or early childhood and include high levels of fats (triglycerides) in the blood (hypertriglyceridemia) and insulin resistance (in which the body tissues are unable to respond to the hormone insulin that helps to regulate blood sugar levels) resulting in diabetes mellitus , abnormal accumulation of fat in the liver (liver steatosis) and the accumulation of fat in the heart causing a thickening of the heart muscle (hypertrophic cardiomyopathy ), which can lead to a heart that does not work well (heart failure) and sudden death. Due to the almost total absence of fatty tissue and excessive growth of muscle tissue, the patients appear very muscular and have visible and prominent veins. They also have dark and thick skin in the body folds (acanthosis nigricans ). There are 4 types of the disease that are distinguished by the altered (mutated ) genes and by some additional characteristic symptoms. People with type 1, caused by mutations in the AGPAT2 gene, may have cysts in the long bones of the arms and the legs after puberty. In type 2, which is caused by mutations in the BSCL2 gene, there may be intellectual disability . In type 3, caused by mutations in the CAV1 gene, affected people may have short stature and growth delay. Type 4, caused by mutations in the CAVIN1 gene, is associated with muscle weakness, developmental delay , joint anomalies, narrowing of the lower part of the stomach (pyloric stenosis), and severe heart arrhythmia that can lead to sudden death. The inheritance of Berardinelli-Seip congenital lipodystrophy is autosomal recessive . Treatment consists on a fat restricted diet and diabetes control, and may also include leptin administration.

KEGG : 36 Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease characterized by near total absence of adipose tissue from birth. Several metabolic alterations in carbohydrate (diabetes mellitus) and lipid metabolism and involvement of heart, bone and ovaries are also observed in this disease. Patients typically have low serum levels of leptin and adiponectin. Several genes were studied to identify the molecular alteration responsible for CGL, which have been found to contribute to lipid droplet formation in adipocytes.

Wikipedia : 74 Congenital generalized lipodystrophy (also known as Berardinelli-Seip lipodystrophy) is an extremely... more...

Related Diseases for Congenital Generalized Lipodystrophy

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 Congenital Generalized Lipodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 256)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, congenital generalized, type 4 33.5 GPAT3 CAVIN1 CAV1 BSCL2 AGPAT2
2 mandibuloacral dysplasia with type a lipodystrophy 32.6 ZMPSTE24 LMNA
3 lipodystrophy, congenital generalized, type 3 32.1 LPIN1 LGALSL GPAT4 GPAT3 CAVIN1 CAV1
4 berardinelli-seip congenital lipodystrophy 31.9 PPARG LEP HNRNPUL2-BSCL2 FOS CAVIN1 CAV1
5 acquired generalized lipodystrophy 31.5 PLIN1 LMNA LEP INS CIDEC CAVIN1
6 lipodystrophy, congenital generalized, type 1 31.4 ZMPSTE24 PPARG MGAT1 LPIN1 LMNA LEP
7 lipodystrophy, familial partial, type 2 31.4 ZMPSTE24 PPARG PLIN1 LMNA LEP INS
8 fatty liver disease, nonalcoholic 1 30.8 LEP INS
9 acanthosis nigricans 30.7 PPARG LMNA LEP INS
10 acquired lipodystrophy 30.7 CAV1 BSCL2
11 lipodystrophy, congenital generalized, type 2 30.6 PPARG PLIN1 LPIN1 LMNA LGALSL LEP
12 non-alcoholic steatohepatitis 30.5 PPARG INS
13 abdominal obesity-metabolic syndrome 1 30.0 PPARG LEP INS
14 lipid metabolism disorder 30.0 PPARG LMNA LEP INS
15 leptin deficiency or dysfunction 29.7 PPARG LEP INS
16 glucose intolerance 29.7 PPARG LMNA LEP INS
17 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 28.7 ZMPSTE24 LPIN1 LMNA LEP INS BSCL2
18 complete generalized lipodystrophy 28.7 ZMPSTE24 PPARG PLIN1 MGAT1 LPIN1 LMNA
19 diabetes mellitus, noninsulin-dependent 28.5 PPARG PLIN1 LPIN1 LMNA LEP INS
20 familial partial lipodystrophy 28.2 PPARG PLIN1 LMNA LEP INS CIDEC
21 body mass index quantitative trait locus 11 27.5 PPARG PLIN1 MGAT1 LPIN1 LMNA LEP
22 generalized lipodystrophy-associated progeroid syndrome 12.5
23 aredyld 12.3
24 keppen-lubinsky syndrome 12.1
25 krabbe disease 11.5
26 mandibuloacral dysplasia with type b lipodystrophy 11.1
27 autosomal recessive disease 10.6
28 hypertriglyceridemia, familial 10.6
29 spastic paraplegia 17 10.5 HNRNPUL2-BSCL2 BSCL2
30 encephalopathy, progressive, with or without lipodystrophy 10.5 HNRNPUL2-BSCL2 BSCL2
31 spastic paraplegia 17, autosomal dominant 10.4
32 neuronopathy, distal hereditary motor, type va 10.4
33 body mass index quantitative trait locus 1 10.4
34 autosomal dominant distal hereditary motor neuronopathy 10.4
35 charcot-marie-tooth disease 10.4
36 tooth disease 10.4
37 hereditary spastic paraplegia 10.4
38 pancreatitis 10.4
39 dystonia 10.4
40 axonal neuropathy 10.4
41 bscl2-related neurologic disorders/seipinopathy 10.4
42 heritable pulmonary arterial hypertension 10.4
43 trpv4-associated disorders 10.4
44 precocious puberty 10.4
45 spastic paraparesis 10.4
46 spasticity 10.4
47 muscle hypertrophy 10.4
48 fatty liver disease 10.3
49 hyperinsulinism 10.3
50 hypothalamic obesity 10.3 LEP INS

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



Diseases related to Congenital Generalized Lipodystrophy

Symptoms & Phenotypes for Congenital Generalized Lipodystrophy

UMLS symptoms related to Congenital Generalized Lipodystrophy:


myalgia

MGI Mouse Phenotypes related to Congenital Generalized Lipodystrophy:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.41 AGPAT2 BSCL2 CAV1 CAVIN1 CIDEC FOS
2 adipose tissue MP:0005375 10.36 AGPAT2 BSCL2 CAV1 CIDEC FOS GPAT3
3 homeostasis/metabolism MP:0005376 10.36 AGPAT1 AGPAT2 BSCL2 CAV1 CAVIN1 CIDEC
4 growth/size/body region MP:0005378 10.33 AGPAT2 BSCL2 CAV1 CAVIN1 CIDEC FOS
5 cardiovascular system MP:0005385 10.26 AGPAT1 BSCL2 CAV1 CAVIN1 INS LEP
6 endocrine/exocrine gland MP:0005379 10.26 AGPAT2 BSCL2 CAV1 FOS GPAT4 INS
7 cellular MP:0005384 10.25 BSCL2 CAV1 CAVIN1 FOS INS LEP
8 integument MP:0010771 10.25 AGPAT2 BSCL2 CAV1 CIDEC FOS GPAT4
9 liver/biliary system MP:0005370 10.18 AGPAT2 BSCL2 CAV1 CIDEC GPAT3 INS
10 mortality/aging MP:0010768 10.17 AGPAT1 AGPAT2 BSCL2 CAV1 CAVIN1 FOS
11 digestive/alimentary MP:0005381 10.04 AGPAT2 BSCL2 CAV1 INS LEP LMNA
12 muscle MP:0005369 9.96 CAV1 CAVIN1 INS LEP LMNA LPIN1
13 renal/urinary system MP:0005367 9.81 AGPAT2 BSCL2 CAV1 CAVIN1 INS LEP
14 reproductive system MP:0005389 9.61 BSCL2 CAV1 FOS INS LEP LMNA
15 skeleton MP:0005390 9.32 AGPAT2 BSCL2 CAV1 FOS INS LEP

Drugs & Therapeutics for Congenital Generalized Lipodystrophy

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Empagliflozin Approved Phase 3 864070-44-0
2 Sodium-Glucose Transporter 2 Inhibitors Phase 3
3 Hypoglycemic Agents Phase 3
4 insulin Phase 3
5 Insulin, Globin Zinc Phase 3
6 Antibodies Phase 2
7 Immunoglobulins Phase 2
8 Immunologic Factors Phase 2

Interventional clinical trials:

(show all 15)
# 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 Compassionate Use of Metreleptin in Previously-Treated Patients With Generalized Lipodystrophy Recruiting NCT02262832 Phase 3 Metreleptin
4 Compassionate Use of Metreleptin in Previously-Treated Patients With Partial Lipodystrophy Recruiting NCT02262806 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 Not yet recruiting NCT04018365 Phase 3 Empagliflozin Tablets
6 Long-Term Efficacy of Leptin Replacement in Treatment of Lipodystrophy Completed NCT00025883 Phase 2 Metreleptin
7 An Open-label Phase 2 Study of ISIS 703802 (AKCEA-ANGPTL3-LRx) Administered Subcutaneously to Subjects With Familial Partial Lipodystrophy Completed NCT03514420 Phase 2 AKCEA-ANGPTL3-LRX
8 Efficacy of Leptin Replacement in Treatment of Lipodystrophy Completed NCT00005905 Phase 2 hu Leptin (A-100)
9 Expanded-Access for the Use of Metreleptin in Patients With Partial Lipodystrophy Associated With Diabetes Mellitus or Hypertriglyceridemia Active, not recruiting NCT02404896 Phase 2 Metreleptin
10 A Randomized, Double-Blind, Placebo-Controlled Study of REGN4461, a Leptin Receptor Agonist Antibody, in Patients With Generalized Lipodystrophy Not yet recruiting NCT04159415 Phase 2 Placebo;Low-Dose REGN4461;High-dose REGN4461
11 Lipodystrophy Connect Patient Registry Completed NCT02577952
12 Osse Registry for Patients With Lipodystrophy Run by the European Consortium of Lipodystrophies (ECLip) Recruiting NCT03553420
13 The Expression Levels of Diadenosine Polyphosphates and Mucin in Mechanical Stress-related Ocular Surface Disorders Recruiting NCT03731624
14 An Observational Study of the Effects of Metreleptin in Young Adults With Congenital Leptin Deficiency Enrolling by invitation NCT04063488 Metreleptin
15 Metreleptin Safety Registry Not yet recruiting NCT02325674

Search NIH Clinical Center for Congenital Generalized Lipodystrophy

Genetic Tests for Congenital Generalized Lipodystrophy

Genetic tests related to Congenital Generalized Lipodystrophy:

# Genetic test Affiliating Genes
1 Congenital Generalized Lipodystrophy 29
2 Generalized Lipodystrophy 29

Anatomical Context for Congenital Generalized Lipodystrophy

MalaCards organs/tissues related to Congenital Generalized Lipodystrophy:

40
Heart, Liver, Bone, Skin, Ovary, Adipocyte, Eye

Publications for Congenital Generalized Lipodystrophy

Articles related to Congenital Generalized Lipodystrophy:

(show top 50) (show all 245)
# Title Authors PMID Year
1
Changes in redox and endoplasmic reticulum homeostasis are related to congenital generalized lipodystrophy type 2. 61
31917334 2020
2
Neonatal cardiac hypertrophy: the role of hyperinsulinism-a review of literature. 61
31840185 2020
3
Metabolomic Analysis of the Effects of Leptin Replacement Therapy in Patients with Lipodystrophy. 61
32010873 2020
4
Early Left Ventricular Systolic Dysfunction Detected by Two-Dimensional Speckle-Tracking Echocardiography in Young Patients with Congenital Generalized Lipodystrophy. 61
32021357 2020
5
Interaction of cavin-1/PTRF leucine zipper domain 2 and its congenital generalized lipodystrophy mutant with model membranes. 61
31706570 2020
6
Leptin Restores Endothelial Function via Endothelial PPARγ-Nox1-Mediated Mechanisms in a Mouse Model of Congenital Generalized Lipodystrophy. 61
31656096 2019
7
GPAT3 deficiency alleviates insulin resistance and hepatic steatosis in a mouse model of severe congenital generalized lipodystrophy. 61
31873720 2019
8
Seipin-linked congenital generalized lipodystrophy type 2: a rare case with multiple lytic and pseudo-osteopoikilosis lesions. 61
31853371 2019
9
Medical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy: A case report. 61
31770241 2019
10
Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4. 61
31778856 2019
11
Berardinelli Seip Congenital Lipodystrophy Syndrome: 10 Year Follow-up. 61
31724546 2019
12
Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants. 61
30266686 2019
13
A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy 61
30563316 2019
14
Seipin deletion in mice enhances phosphorylation and aggregation of tau protein through reduced neuronal PPARγ and insulin resistance. 61
30910747 2019
15
Congenital lipodystrophy induces severe osteosclerosis. 61
31233501 2019
16
Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants. 61
30742913 2019
17
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant. 61
30903322 2019
18
Type 2 Congenital Generalized Lipodystrophy: The Diagnosis is in Your Hands. 61
30579587 2019
19
Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations. 61
30476128 2019
20
Aggressive papillary thyroid carcinoma in a child with type 2 congenital generalized lipodystrophy. 61
30864635 2019
21
Berardinelli-Seip syndrome and progressive myoclonus epilepsy. 61
30767895 2019
22
Congenital generalized lipodystrophy in Taiwan. 61
29478747 2019
23
Adipose tissue transplantation ameliorates lipodystrophy-associated metabolic disorders in seipin-deficient mice. 61
30457912 2019
24
A New Compound Heterozygous Mutation Of BSCL2 In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy. 61
31824185 2019
25
Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report. 61
30745727 2019
26
Association between cardiovascular autonomic neuropathy and left ventricular hypertrophy in young patients with congenital generalized lipodystrophy. 61
31303898 2019
27
The long-term management of congenital generalized lipodystrophy (Berardinelli-Seip syndrome): the clinical manifestations of Japanese siblings for approximately 20 years. 61
31666767 2019
28
[Mutations in the BSCL2 gene cause congenital generalized lipodystrophy complicated by severe acute pancreatitis: a case report]. 61
30605953 2019
29
[Unusual facies and recurrent high triglycerides for more than one year in a girl]. 61
30572997 2018
30
Characteristic findings of skeletal muscle MRI in caveolinopathies. 61
30174172 2018
31
[A case report of congenital generalized lipodystrophy]. 61
30369364 2018
32
Renal injury in Seipin-deficient lipodystrophic mice and its reversal by adipose tissue transplantation or leptin administration alone: adipose tissue-kidney crosstalk. 61
29738274 2018
33
Expression of AGPAT2, an enzyme involved in the glycerophospholipid/triacylglycerol biosynthesis pathway, is directly regulated by HIF-1 and promotes survival and etoposide resistance of cancer cells under hypoxia. 61
29908837 2018
34
Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects. 61
30208912 2018
35
Seipin deficiency in mice causes loss of dopaminergic neurons via aggregation and phosphorylation of α-synuclein and neuroinflammation. 61
29670081 2018
36
Clinical outcome in a series of pediatric patients with congenital generalized lipodystrophies treated with dietary therapy. 61
29267171 2018
37
Anesthesia for patients with PTRF mutations: a case report. 61
29457121 2018
38
Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy. 61
29883474 2018
39
Early commitment of cardiovascular autonomic modulation in Brazilian patients with congenital generalized lipodystrophy. 61
29329523 2018
40
Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy. 61
28916377 2017
41
Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy. 61
29044029 2017
42
Metabolic, Reproductive, and Neurologic Abnormalities in Agpat1-Null Mice. 61
28973305 2017
43
Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study. 61
28754454 2017
44
Congenital Generalized Lipodystrophy Type 2 in a Patient From a High-Prevalence Area. 61
29264552 2017
45
Normal bone density and trabecular bone score, but high serum sclerostin in congenital generalized lipodystrophy. 61
28390904 2017
46
MECHANISTIC INSIGHTS INTO OSTEOPOROSIS IN PATIENTS WITH LIPODYSTROPHY AND REVIEW OF THE LITERATURE. 61
28448764 2017
47
Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy. 61
27612026 2017
48
Clinical Features and Management of Non-HIV-Related Lipodystrophy in Children: A Systematic Review. 61
27967300 2017
49
High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome. 61
27868354 2017
50
Lipodystrophy Syndromes. 61
27823605 2016

Variations for Congenital Generalized Lipodystrophy

ClinVar genetic disease variations for Congenital Generalized Lipodystrophy:

6 (show top 50) (show all 72) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BSCL2 NM_032667.6(BSCL2):c.908C>T (p.Pro303Leu)SNV Conflicting interpretations of pathogenicity 199176 rs144245125 11:62458312-62458312 11:62690840-62690840
2 BSCL2 NM_032667.6(BSCL2):c.396C>T (p.Cys132=)SNV Conflicting interpretations of pathogenicity 220467 rs369806785 11:62462082-62462082 11:62694610-62694610
3 BSCL2 NM_032667.6(BSCL2):c.1088T>C (p.Leu363Pro)SNV Conflicting interpretations of pathogenicity 128532 rs145649423 11:62457948-62457948 11:62690476-62690476
4 BSCL2 NM_032667.6(BSCL2):c.553G>A (p.Ala185Thr)SNV Conflicting interpretations of pathogenicity 246574 rs10776 11:62460155-62460155 11:62692683-62692683
5 BSCL2 NM_032667.6(BSCL2):c.256G>A (p.Val86Ile)SNV Conflicting interpretations of pathogenicity 246599 rs149412531 11:62469978-62469978 11:62702506-62702506
6 AGPAT2 NM_006412.4(AGPAT2):c.315G>T (p.Met105Ile)SNV Conflicting interpretations of pathogenicity 365930 rs746809573 9:139571876-139571876 9:136677424-136677424
7 BSCL2 NM_001122955.3(BSCL2):c.124C>T (p.Arg42Cys)SNV Conflicting interpretations of pathogenicity 305185 rs201493373 11:62473053-62473053 11:62705581-62705581
8 AGPAT2 NM_006412.4(AGPAT2):c.182+8C>TSNV Conflicting interpretations of pathogenicity 365933 rs199860398 9:139581620-139581620 9:136687168-136687168
9 AGPAT2 NM_006412.4(AGPAT2):c.182+6G>ASNV Conflicting interpretations of pathogenicity 365934 rs373540283 9:139581622-139581622 9:136687170-136687170
10 BSCL2 NM_032667.6(BSCL2):c.631G>A (p.Gly211Arg)SNV Conflicting interpretations of pathogenicity 305178 rs151018278 11:62459888-62459888 11:62692416-62692416
11 BSCL2 NM_001122955.3(BSCL2):c.184C>T (p.Leu62Phe)SNV Uncertain significance 305182 rs756907468 11:62472993-62472993 11:62705521-62705521
12 BSCL2 NM_001122955.3(BSCL2):c.131G>A (p.Gly44Asp)SNV Uncertain significance 305184 rs769536524 11:62473046-62473046 11:62705574-62705574
13 BSCL2 NM_032667.6(BSCL2):c.-140A>CSNV Uncertain significance 305187 rs886048443 11:62473709-62473709 11:62706237-62706237
14 BSCL2 NM_032667.6(BSCL2):c.*49T>GSNV Uncertain significance 305172 rs368144792 11:62457790-62457790 11:62690318-62690318
15 BSCL2 NM_032667.6(BSCL2):c.862A>G (p.Ile288Val)SNV Uncertain significance 305174 rs775718358 11:62458565-62458565 11:62691093-62691093
16 BSCL2 NM_032667.6(BSCL2):c.553G>T (p.Ala185Ser)SNV Uncertain significance 305179 rs10776 11:62460155-62460155 11:62692683-62692683
17 BSCL2 NM_032667.6(BSCL2):c.352C>A (p.Pro118Thr)SNV Uncertain significance 305181 rs886048442 11:62462126-62462126 11:62694654-62694654
18 AGPAT2 NM_006412.4(AGPAT2):c.-51_-46GGAGCG[2]short repeat Uncertain significance 365937 rs376582855 9:139581843-139581848 9:136687391-136687396
19 BSCL2 NM_032667.6(BSCL2):c.1042+14T>GSNV Uncertain significance 305173 rs778380128 11:62458070-62458070 11:62690598-62690598
20 AGPAT2 NM_006412.4(AGPAT2):c.748C>T (p.Arg250Trp)SNV Uncertain significance 365918 rs767338891 9:139568293-139568293 9:136673841-136673841
21 AGPAT2 NM_006412.4(AGPAT2):c.493-3C>TSNV Uncertain significance 365924 rs764555217 9:139571135-139571135 9:136676683-136676683
22 AGPAT2 NM_006412.4(AGPAT2):c.453A>G (p.Thr151=)SNV Uncertain significance 365927 rs886063721 9:139571452-139571452 9:136677000-136677000
23 AGPAT2 NM_006412.4(AGPAT2):c.316+15G>ASNV Uncertain significance 365929 rs531012485 9:139571860-139571860 9:136677408-136677408
24 AGPAT2 NM_006412.4(AGPAT2):c.234C>T (p.Phe78=)SNV Uncertain significance 365931 rs543374987 9:139571957-139571957 9:136677505-136677505
25 AGPAT2 NM_006412.4(AGPAT2):c.-4G>CSNV Uncertain significance 365936 rs886063724 9:139581813-139581813 9:136687361-136687361
26 AGPAT2 NM_006412.4(AGPAT2):c.*514A>CSNV Uncertain significance 365902 rs886063717 9:139567690-139567690 9:136673238-136673238
27 AGPAT2 NM_006412.4(AGPAT2):c.*512G>ASNV Uncertain significance 365903 rs555467686 9:139567692-139567692 9:136673240-136673240
28 AGPAT2 NM_006412.4(AGPAT2):c.*230C>TSNV Uncertain significance 365908 rs190437134 9:139567974-139567974 9:136673522-136673522
29 AGPAT2 NM_006412.4(AGPAT2):c.-10_-6GGGCC[3] (p.Met1fs)short repeat Uncertain significance 365935 rs886063723 9:139581809-139581810 9:136687357-136687358
30 AGPAT2 NM_006412.4(AGPAT2):c.-68C>GSNV Uncertain significance 365941 rs886063726 9:139581877-139581877 9:136687425-136687425
31 AGPAT2 NM_006412.4(AGPAT2):c.-61G>CSNV Uncertain significance 365938 rs886063725 9:139581870-139581870 9:136687418-136687418
32 AGPAT2 NM_006412.4(AGPAT2):c.-62G>ASNV Uncertain significance 365939 rs566958496 9:139581871-139581871 9:136687419-136687419
33 AGPAT2 NM_006412.4(AGPAT2):c.*201G>CSNV Uncertain significance 365911 rs567964604 9:139568003-139568003 9:136673551-136673551
34 AGPAT2 NM_006412.4(AGPAT2):c.*45C>ASNV Uncertain significance 365915 rs769602973 9:139568159-139568159 9:136673707-136673707
35 AGPAT2 NM_006412.4(AGPAT2):c.604G>A (p.Val202Met)SNV Uncertain significance 365923 rs372408400 9:139569244-139569244 9:136674792-136674792
36 AGPAT2 NM_006412.4(AGPAT2):c.*354C>TSNV Uncertain significance 365906 rs886063719 9:139567850-139567850 9:136673398-136673398
37 AGPAT2 NM_006412.4(AGPAT2):c.*164C>ASNV Uncertain significance 365912 rs777619886 9:139568040-139568040 9:136673588-136673588
38 AGPAT2 NM_006412.4(AGPAT2):c.783G>A (p.Lys261=)SNV Uncertain significance 365917 rs761143874 9:139568258-139568258 9:136673806-136673806
39 AGPAT2 NM_006412.4(AGPAT2):c.732C>T (p.Leu244=)SNV Uncertain significance 365919 rs200288462 9:139568309-139568309 9:136673857-136673857
40 AGPAT2 NM_006412.4(AGPAT2):c.720C>T (p.Asp240=)SNV Uncertain significance 365920 rs142207711 9:139568321-139568321 9:136673869-136673869
41 AGPAT2 NM_006412.4(AGPAT2):c.483C>T (p.Val161=)SNV Uncertain significance 365925 rs370441324 9:139571422-139571422 9:136676970-136676970
42 AGPAT2 NM_006412.4(AGPAT2):c.476G>T (p.Arg159Leu)SNV Uncertain significance 365926 rs374919945 9:139571429-139571429 9:136676977-136676977
43 AGPAT2 NM_006412.4(AGPAT2):c.*418G>ASNV Uncertain significance 365905 rs886063718 9:139567786-139567786 9:136673334-136673334
44 AGPAT2 NM_006412.4(AGPAT2):c.*217G>ASNV Uncertain significance 365910 rs886063720 9:139567987-139567987 9:136673535-136673535
45 AGPAT2 NM_006412.4(AGPAT2):c.820G>A (p.Val274Met)SNV Uncertain significance 365916 rs368902934 9:139568221-139568221 9:136673769-136673769
46 AGPAT2 NM_006412.4(AGPAT2):c.662-5C>GSNV Uncertain significance 365921 rs199964729 9:139568384-139568384 9:136673932-136673932
47 AGPAT2 NM_006412.4(AGPAT2):c.*212_*217dupduplication Likely benign 365909 rs145169122 9:139567986-139567987 9:136673534-136673535
48 AGPAT2 NM_006412.4(AGPAT2):c.*239G>ASNV Likely benign 365907 rs56310643 9:139567965-139567965 9:136673513-136673513
49 AGPAT2 NM_006412.4(AGPAT2):c.*535C>TSNV Likely benign 365900 rs138670030 9:139567669-139567669 9:136673217-136673217
50 BSCL2 NM_032667.6(BSCL2):c.975C>T (p.Ser325=)SNV Likely benign 155731 rs17850877 11:62458151-62458151 11:62690679-62690679

Expression for Congenital Generalized Lipodystrophy

Search GEO for disease gene expression data for Congenital Generalized Lipodystrophy.

Pathways for Congenital Generalized Lipodystrophy

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.91 PPARG PLIN1 NHLRC1 MGAT1 LPIN1 INS
2
Show member pathways
12.66 LPIN1 GPAT4 GPAT3 AGPAT2 AGPAT1
3
Show member pathways
12.53 PPARG PLIN1 LPIN1 LEP GPAT4 GPAT3
4
Show member pathways
12.26 LPIN1 GPAT4 GPAT3 AGPAT2 AGPAT1
5 12.22 PPARG PLIN1 LPIN1 INS BSCL2 AGPAT2
6
Show member pathways
12.2 INS FOS AGPAT2 AGPAT1
7
Show member pathways
11.94 GPAT4 GPAT3 AGPAT2 AGPAT1
8 11.53 PPARG LPIN1 INS
9
Show member pathways
11.47 GPAT4 GPAT3 AGPAT2 AGPAT1
10 11.4 ZMPSTE24 PPARG PLIN1 LPIN1 LMNA LEP
11 11.33 LEP INS CAV1
12 11.14 LPIN1 GPAT4 GPAT3 AGPAT2 AGPAT1
13 10.89 PPARG LPIN1 LEP
14 10.84 LEP INS

GO Terms for Congenital Generalized Lipodystrophy

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.56 ZMPSTE24 LPIN1 GPAT4 GPAT3 CAV1 BSCL2
2 endoplasmic reticulum GO:0005783 9.44 ZMPSTE24 PLIN1 NHLRC1 LPIN1 GPAT4 GPAT3
3 lipid droplet GO:0005811 9.33 PLIN1 CIDEC CAV1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 9.74 PPARG LEP INS
2 positive regulation of cold-induced thermogenesis GO:0120162 9.67 LPIN1 LEP CAV1 BSCL2
3 regulation of nitric-oxide synthase activity GO:0050999 9.59 LEP CAV1
4 regulation of fat cell differentiation GO:0045598 9.58 PPARG LEP
5 lipid droplet organization GO:0034389 9.58 CIDEC BSCL2
6 positive regulation of cytokine production GO:0001819 9.58 LEP AGPAT2 AGPAT1
7 regulation of protein localization to plasma membrane GO:1903076 9.56 NHLRC1 INS
8 phospholipid biosynthetic process GO:0008654 9.56 GPAT4 GPAT3 AGPAT2 AGPAT1
9 determination of adult lifespan GO:0008340 9.55 ZMPSTE24 LEP
10 nuclear envelope organization GO:0006998 9.54 ZMPSTE24 LMNA
11 negative regulation of lipid catabolic process GO:0050995 9.52 INS BSCL2
12 fatty acid catabolic process GO:0009062 9.51 LPIN1 LEP
13 triglyceride biosynthetic process GO:0019432 9.5 LPIN1 GPAT4 GPAT3
14 positive regulation of cytokine-mediated signaling pathway GO:0001961 9.49 AGPAT2 AGPAT1
15 regulation of protein localization to nucleus GO:1900180 9.48 LMNA LEP
16 cellular response to hyperoxia GO:0071455 9.46 PPARG CAV1
17 phosphatidic acid biosynthetic process GO:0006654 9.46 GPAT4 GPAT3 AGPAT2 AGPAT1
18 negative regulation of acute inflammatory response GO:0002674 9.43 PPARG INS
19 lipid metabolic process GO:0006629 9.28 PPARG PLIN1 LPIN1 LEP GPAT4 GPAT3
20 CDP-diacylglycerol biosynthetic process GO:0016024 9.26 GPAT4 GPAT3 AGPAT2 AGPAT1

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring acyl groups GO:0016746 9.56 GPAT4 GPAT3 AGPAT2 AGPAT1
2 sn-1-glycerol-3-phosphate C16:0-DCA-CoA acyl transferase activity GO:0102420 9.16 GPAT4 GPAT3
3 glycerol-3-phosphate O-acyltransferase activity GO:0004366 8.96 GPAT4 GPAT3
4 1-acylglycerol-3-phosphate O-acyltransferase activity GO:0003841 8.92 GPAT4 GPAT3 AGPAT2 AGPAT1

Sources for Congenital Generalized Lipodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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36 KEGG
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45 MGI
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50 NDF-RT
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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