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


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 lipodystrophy, congenital generalized, type 3, 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 Glycerophospholipid biosynthesis and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Propoxycaine and Proxymetacaine 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 269)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, congenital generalized, type 4 34.0 CAVIN1 CAV1 BSCL2 AGPAT2
2 lipodystrophy, congenital generalized, type 3 33.3 LPIN1 CAVIN1 CAV1 BSCL2 AGPAT2
3 mandibuloacral dysplasia with type a lipodystrophy 32.3 ZMPSTE24 LMNA
4 lipodystrophy, congenital generalized, type 1 32.1 ZMPSTE24 PPARG LMNA LEP INS BSCL2
5 berardinelli-seip congenital lipodystrophy 31.8 PPARG LEP HNRNPUL2-BSCL2 FOS CAVIN1 CAV1
6 acquired generalized lipodystrophy 31.5 ZMPSTE24 LMNA LEP CIDEC CAVIN1 BSCL2
7 lipodystrophy, congenital generalized, type 2 31.1 PPARG LPIN1 LMNA LGALSL LEP GZMB
8 autosomal dominant distal hereditary motor neuronopathy 31.1 LMNA BSCL2 AGPAT2
9 lipodystrophy, familial partial, type 2 31.0 ZMPSTE24 PPARG PLIN1 LMNA LEP INS
10 acquired lipodystrophy 30.7 CAV1 BSCL2
11 acanthosis nigricans 30.6 PPARG LMNA LEP INS
12 fatty liver disease, nonalcoholic 1 30.5 LEP INS
13 lipid metabolism disorder 30.0 PPARG LMNA LEP INS
14 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.0 ZMPSTE24 LPIN1 LMNA LEP INS BSCL2
15 abdominal obesity-metabolic syndrome 1 29.9 PPARG LEP INS
16 hyperuricemia 29.6 PPARG LEP INS
17 glucose intolerance 29.5 PPARG LMNA LEP INS
18 diabetes mellitus 29.0 PPARG PLIN1 LMNA LEP INS GZMB
19 diabetes mellitus, noninsulin-dependent 28.5 PPARG PLIN1 LPIN1 LMNA LEP INS
20 familial partial lipodystrophy 28.3 PPARG PLIN1 LMNA LEP INS CIDEC
21 body mass index quantitative trait locus 11 28.1 PPARG PLIN1 LPIN1 LMNA LEP INS
22 complete generalized lipodystrophy 28.0 ZMPSTE24 PPARG PLIN1 LPIN1 LMNA LGALSL
23 generalized lipodystrophy-associated progeroid syndrome 12.5
24 aredyld 12.3
25 keppen-lubinsky syndrome 12.1
26 krabbe disease 11.5
27 glutamate-cysteine ligase deficiency 11.3
28 mandibuloacral dysplasia with type b lipodystrophy 11.1
29 hypertriglyceridemia, familial 10.6
30 autosomal recessive disease 10.6
31 spastic paraplegia 17 10.5 HNRNPUL2-BSCL2 BSCL2
32 encephalopathy, progressive, with or without lipodystrophy 10.5 HNRNPUL2-BSCL2 BSCL2
33 rare genetic diabetes mellitus 10.4 LMNA BSCL2
34 spastic paraplegia 17, autosomal dominant 10.4
35 neuronopathy, distal hereditary motor, type va 10.4
36 body mass index quantitative trait locus 1 10.4
37 charcot-marie-tooth disease 10.4
38 tooth disease 10.4
39 hereditary spastic paraplegia 10.4
40 pancreatitis 10.4
41 axonal neuropathy 10.4
42 bscl2-related neurologic disorders/seipinopathy 10.4
43 heritable pulmonary arterial hypertension 10.4
44 trpv4-associated disorders 10.4
45 precocious puberty 10.4
46 spastic paraparesis 10.4
47 spasticity 10.4
48 muscle hypertrophy 10.4
49 fatty liver disease 10.3
50 isolated elevated serum creatine phosphokinase levels 10.3 LMNA CAV1 AGPAT2

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:


MGI Mouse Phenotypes related to Congenital Generalized Lipodystrophy:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.45 AGPAT1 AGPAT2 BSCL2 CAV1 CAVIN1 CIDEC
2 adipose tissue MP:0005375 10.4 AGPAT1 AGPAT2 BSCL2 CAV1 CIDEC FOS
3 homeostasis/metabolism MP:0005376 10.36 AGPAT1 AGPAT2 BSCL2 CAV1 CAVIN1 CIDEC
4 growth/size/body region MP:0005378 10.35 AGPAT1 AGPAT2 BSCL2 CAV1 CAVIN1 CIDEC
5 endocrine/exocrine gland MP:0005379 10.27 AGPAT1 AGPAT2 BSCL2 CAV1 FOS GPAT4
6 cellular MP:0005384 10.26 AGPAT1 BSCL2 CAV1 CAVIN1 FOS INS
7 integument MP:0010771 10.25 AGPAT2 BSCL2 CAV1 CIDEC FOS GPAT4
8 cardiovascular system MP:0005385 10.24 AGPAT1 BSCL2 CAV1 CAVIN1 INS LEP
9 liver/biliary system MP:0005370 10.22 AGPAT2 BSCL2 CAV1 CIDEC GPAT3 INS
10 mortality/aging MP:0010768 10.18 AGPAT1 AGPAT2 BSCL2 CAV1 CAVIN1 FOS
11 digestive/alimentary MP:0005381 10.05 AGPAT2 BSCL2 CAV1 INS LEP LMNA
12 nervous system MP:0003631 10.03 AGPAT1 BSCL2 CAV1 CIDEC FOS INS
13 muscle MP:0005369 10.02 CAV1 CAVIN1 INS LEP LMNA LPIN1
14 renal/urinary system MP:0005367 9.81 AGPAT2 BSCL2 CAV1 CAVIN1 INS LEP
15 reproductive system MP:0005389 9.61 AGPAT1 BSCL2 CAV1 FOS INS LEP
16 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 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Propoxycaine Approved Phase 4 86-43-1
2 Proxymetacaine Phase 4
3 Anesthetics Phase 4
4 Pharmaceutical Solutions Phase 4
5 Anesthetics, Local Phase 4
Empagliflozin Approved Phase 3 864070-44-0
7 Insulin, Globin Zinc Phase 3
8 Hypoglycemic Agents Phase 3
9 Sodium-Glucose Transporter 2 Inhibitors Phase 3
10 insulin Phase 3
11 Immunoglobulins Phase 2
12 Antibodies Phase 2

Interventional clinical trials:

(show all 18)
# 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 Efficacy and Safety of Anesthetic Impregnated Bandage Soft Contact Lens (BSCL) in Pain Management After Photorefractive Keratectomy (PRK). Not yet recruiting NCT04283331 Phase 4 Proparacaine Ophthalmic
3 Double-Blind, Placebo-Controlled Trial of Leptin Replacement Therapy in Patients With Lipodystrophy Completed NCT00896298 Phase 2, Phase 3 Leptin;Placebo
4 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
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 Recruiting NCT04018365 Phase 3 Empagliflozin Tablets
6 Compassionate Use of Metreleptin in Previously-Treated Patients With Generalized Lipodystrophy Recruiting NCT02262832 Phase 3 Metreleptin
7 Compassionate Use of Metreleptin in Previously-Treated Patients With Partial Lipodystrophy Recruiting NCT02262806 Phase 3 Metreleptin
8 Long-Term Efficacy of Leptin Replacement in Treatment of Lipodystrophy Completed NCT00025883 Phase 2 Metreleptin
9 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
10 Efficacy of Leptin Replacement in Treatment of Lipodystrophy Completed NCT00005905 Phase 2 hu Leptin (A-100)
11 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
12 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
13 Lipodystrophy Connect Patient Registry Completed NCT02577952
14 Osse Registry for Patients With Lipodystrophy Run by the European Consortium of Lipodystrophies (ECLip) Recruiting NCT03553420
15 The Expression Levels of Diadenosine Polyphosphates and Mucin in Mechanical Stress-related Ocular Surface Disorders Recruiting NCT03731624
16 An Observational Study of the Effects of Metreleptin in Young Adults With Congenital Leptin Deficiency Enrolling by invitation NCT04063488 Metreleptin
17 Metreleptin Safety Registry Not yet recruiting NCT02325674
18 Interdisciplinary, Web-based Trans Health Care / i2TransHealth / Randomized Control Trial Not yet recruiting NCT04290286

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 (disease) 29
2 Generalized Lipodystrophy 29

Anatomical Context for Congenital Generalized Lipodystrophy

MalaCards organs/tissues related to Congenital Generalized Lipodystrophy:

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

Publications for Congenital Generalized Lipodystrophy

Articles related to Congenital Generalized Lipodystrophy:

(show top 50) (show all 254)
# Title Authors PMID Year
Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy. 61
32236581 2020
Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome. 61
32440981 2020
A rare frameshift mutation in the AGPAT2 gene in a family from gaza with congenital generalized lipodystrophy. 61
32412105 2020
Changes in redox and endoplasmic reticulum homeostasis are related to congenital generalized lipodystrophy type 2. 61
31917334 2020
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 2020
GPAT3 deficiency alleviates insulin resistance and hepatic steatosis in a mouse model of severe congenital generalized lipodystrophy. 61
31873720 2020
Acromegaly with congenital generalized lipodystrophy - two rare insulin resistance conditions in one patient: a case report. 61
32079542 2020
High prevalence of congenital generalized lipodystrophy in Piura, Peru. 61
32201678 2020
Oligomers of the lipodystrophy protein seipin may co-ordinate GPAT3 and AGPAT2 enzymes to facilitate adipocyte differentiation. 61
32094408 2020
Interaction of cavin-1/PTRF leucine zipper domain 2 and its congenital generalized lipodystrophy mutant with model membranes. 61
31706570 2020
Metabolomic Analysis of the Effects of Leptin Replacement Therapy in Patients with Lipodystrophy. 61
32010873 2020
Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant. 61
32467771 2020
Neonatal cardiac hypertrophy: the role of hyperinsulinism-a review of literature. 61
31840185 2020
Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications. 61
32280377 2020
Early Left Ventricular Systolic Dysfunction Detected by Two-Dimensional Speckle-Tracking Echocardiography in Young Patients with Congenital Generalized Lipodystrophy. 61
32021357 2020
Seipin-linked congenital generalized lipodystrophy type 2: a rare case with multiple lytic and pseudo-osteopoikilosis lesions. 61
31853371 2019
Leptin Restores Endothelial Function via Endothelial PPARγ-Nox1-Mediated Mechanisms in a Mouse Model of Congenital Generalized Lipodystrophy. 61
31656096 2019
Medical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy: A case report. 61
31770241 2019
Berardinelli Seip Congenital Lipodystrophy Syndrome: 10 Year Follow-up. 61
31724546 2019
Retinopathy and Uveitis in Congenital Generalized Lipodystrophy with Hypertriglyceridemia and Uncontrolled Diabetes (Berardinelli-Seip Syndrome). 61
32153340 2019
A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy 61
30563316 2019
Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants. 61
30266686 2019
Seipin deletion in mice enhances phosphorylation and aggregation of tau protein through reduced neuronal PPARγ and insulin resistance. 61
30910747 2019
Congenital lipodystrophy induces severe osteosclerosis. 61
31233501 2019
Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants. 61
30742913 2019
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant. 61
30903322 2019
Type 2 Congenital Generalized Lipodystrophy: The Diagnosis is in Your Hands. 61
30579587 2019
Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations. 61
30476128 2019
Aggressive papillary thyroid carcinoma in a child with type 2 congenital generalized lipodystrophy. 61
30864635 2019
Berardinelli-Seip syndrome and progressive myoclonus epilepsy. 61
30767895 2019
Congenital generalized lipodystrophy in Taiwan. 61
29478747 2019
Adipose tissue transplantation ameliorates lipodystrophy-associated metabolic disorders in seipin-deficient mice. 61
30457912 2019
A New Compound Heterozygous Mutation Of BSCL2 In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy. 61
31824185 2019
Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report. 61
30745727 2019
Association between cardiovascular autonomic neuropathy and left ventricular hypertrophy in young patients with congenital generalized lipodystrophy. 61
31303898 2019
The long-term management of congenital generalized lipodystrophy (Berardinelli-Seip syndrome): the clinical manifestations of Japanese siblings for approximately 20 years. 61
31666767 2019
[Mutations in the BSCL2 gene cause congenital generalized lipodystrophy complicated by severe acute pancreatitis: a case report]. 61
30605953 2019
[Unusual facies and recurrent high triglycerides for more than one year in a girl]. 61
30572997 2018
Characteristic findings of skeletal muscle MRI in caveolinopathies. 61
30174172 2018
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
[A case report of congenital generalized lipodystrophy]. 61
30369364 2018
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
Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects. 61
30208912 2018
Seipin deficiency in mice causes loss of dopaminergic neurons via aggregation and phosphorylation of α-synuclein and neuroinflammation. 61
29670081 2018
Anesthesia for patients with PTRF mutations: a case report. 61
29457121 2018
Clinical outcome in a series of pediatric patients with congenital generalized lipodystrophies treated with dietary therapy. 61
29267171 2018
Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy. 61
29883474 2018
Early commitment of cardiovascular autonomic modulation in Brazilian patients with congenital generalized lipodystrophy. 61
29329523 2018
Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy. 61
28916377 2017
Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy. 61
29044029 2017

Variations for Congenital Generalized Lipodystrophy

ClinVar genetic disease variations for Congenital Generalized Lipodystrophy:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 AGPAT2 NM_006412.4(AGPAT2):c.-10_-6GGGCC[3] (p.Met1fs)short repeat Uncertain significance 365935 rs886063723 9:139581809-139581810 9:136687357-136687358
3 AGPAT2 NM_006412.4(AGPAT2):c.493-3C>TSNV Uncertain significance 365924 rs764555217 9:139571135-139571135 9:136676683-136676683
4 AGPAT2 NM_006412.4(AGPAT2):c.-51_-46GGAGCG[2]short repeat Uncertain significance 365937 rs376582855 9:139581843-139581848 9:136687391-136687396
5 AGPAT2 NM_006412.4(AGPAT2):c.*212_*217dupduplication Likely benign 365909 rs145169122 9:139567986-139567987 9:136673534-136673535
6 AGPAT2 NM_006412.4(AGPAT2):c.40_42CTG[5] (p.Leu17dup)short repeat Benign/Likely benign 259977 rs745429291 9:139581758-139581759 9:136687306-136687307

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
Show member pathways
Show member pathways
Show member pathways
Show member pathways
Show member pathways
Show member pathways
11 11.33 LEP INS CAV1
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 lipid droplet GO:0005811 9.46 PLIN1 CIDEC CAV1 BSCL2
3 endoplasmic reticulum GO:0005783 9.44 ZMPSTE24 PLIN1 NHLRC1 LPIN1 GPAT4 GPAT3

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 9.75 PPARG LEP INS
2 cellular response to insulin stimulus GO:0032869 9.7 PPARG LPIN1 LEP
3 positive regulation of cold-induced thermogenesis GO:0120162 9.67 LPIN1 LEP CAV1 BSCL2
4 positive regulation of cytokine production GO:0001819 9.58 LEP AGPAT2 AGPAT1
5 lipid droplet organization GO:0034389 9.57 CIDEC BSCL2
6 nuclear envelope organization GO:0006998 9.56 ZMPSTE24 LMNA
7 phospholipid biosynthetic process GO:0008654 9.56 GPAT4 GPAT3 AGPAT2 AGPAT1
8 determination of adult lifespan GO:0008340 9.55 ZMPSTE24 LEP
9 negative regulation of lipid catabolic process GO:0050995 9.54 INS BSCL2
10 fatty acid catabolic process GO:0009062 9.51 LPIN1 LEP
11 triglyceride biosynthetic process GO:0019432 9.5 LPIN1 GPAT4 GPAT3
12 positive regulation of cytokine-mediated signaling pathway GO:0001961 9.49 AGPAT2 AGPAT1
13 regulation of protein localization to nucleus GO:1900180 9.48 LMNA LEP
14 negative regulation of acute inflammatory response GO:0002674 9.46 PPARG INS
15 phosphatidic acid biosynthetic process GO:0006654 9.46 GPAT4 GPAT3 AGPAT2 AGPAT1
16 cellular response to hyperoxia GO:0071455 9.43 PPARG CAV1
17 lipid metabolic process GO:0006629 9.28 PPARG PLIN1 LPIN1 LEP GPAT4 GPAT3
18 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

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
Loading form....