MCID: CNG012
MIFTS: 52

Congenital Generalized Lipodystrophy

Categories: Endocrine diseases, Genetic 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 54 26 38 30 6 15 17
Berardinelli-Seip Congenital Lipodystrophy 54 26
Lipodystrophy, Congenital Generalized 26 56
Generalized Lipodystrophy 26 30
Brunzell Syndrome 54 26
Bscl 54 26
Congenital Generalized Lipodystrophy Type 2 74
Lipodystrophy, Generalized, Congenital 41
Familial Partial Lipodystrophy, Type 2 74
Generalized Congenital Lipodystrophy 54
Familial Generalized Lipodystrophy 74
Lipoatrophic Diabetes Mellitus 74
Berardinelli-Seip Syndrome 26
Beradinelli-Seip Syndrome 54
Lipoatrophic Diabetes 54
Total Lipodystrophy 26
Seip Syndrome 26
Gcl 54

Classifications:



External Ids:

Disease Ontology 12 DOID:0050585
KEGG 38 H00419

Summaries for Congenital Generalized Lipodystrophy

NIH Rare Diseases : 54 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. 

MalaCards based summary : Congenital Generalized Lipodystrophy, also known as berardinelli-seip congenital lipodystrophy, is related to lipodystrophy, congenital generalized, type 2 and lipodystrophy, congenital generalized, type 4, 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 Cytoskeletal Signaling and HIF-1-alpha transcription factor network. The drugs insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and skin, and related phenotypes are behavior/neurological and cellular

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.

Genetics Home Reference : 26 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.

Wikipedia : 77 Congenital generalized lipodystrophy is an extremely rare autosomal recessive condition, characterized... 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 103)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, congenital generalized, type 2 33.2 AGPAT2 BSCL2 CAVIN1 LMNA
2 lipodystrophy, congenital generalized, type 4 32.8 AGPAT2 BSCL2 CAV1 CAVIN1 LMNA
3 lipodystrophy, congenital generalized, type 3 32.6 AGPAT2 BSCL2 CAV1 CAVIN1 FOS
4 lipodystrophy, congenital generalized, type 1 32.3 AGPAT2 BSCL2 LEP LMNA ZMPSTE24
5 berardinelli-seip congenital lipodystrophy 31.7 AGPAT2 BSCL2 CAV1 LEP
6 complete generalized lipodystrophy 31.6 AGPAT2 BSCL2 CAV1 CAVIN1 LEP LMNA
7 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 31.3 AGPAT2 BSCL2 LMNA
8 spastic paraplegia 17, autosomal dominant 30.9 AGPAT2 BSCL2
9 acquired generalized lipodystrophy 30.8 AGPAT2 BSCL2 CAV1 CAVIN1 LEP LMNA
10 lipodystrophy, familial partial, type 2 29.6 AGPAT2 LEP LMNA
11 acanthosis nigricans 29.4 LEP LMNA
12 generalized lipodystrophy-associated progeroid syndrome 12.3
13 aredyld 12.2
14 keppen-lubinsky syndrome 12.0
15 krabbe disease 11.4
16 mandibuloacral dysplasia with type b lipodystrophy 11.0
17 autosomal recessive disease 10.4
18 acute pancreatitis 10.4
19 pancreatitis 10.4
20 dystonia 10.4
21 distal hereditary motor neuropathy, type v 10.4
22 diabetes mellitus, noninsulin-dependent 10.2
23 hyperglycemia 10.1
24 bipolar disorder 10.1
25 depression 10.1
26 adiposis dolorosa 10.1 AGPAT2 ZMPSTE24
27 diabetes mellitus 10.1
28 pigmentation disease 10.1 AGPAT2 BSCL2
29 mandibuloacral dysplasia with type a lipodystrophy 10.0 LMNA ZMPSTE24
30 lymphoma 10.0
31 restrictive dermopathy, lethal 10.0 LMNA ZMPSTE24
32 autosomal dominant limb-girdle muscular dystrophy 10.0 CAV1 LMNA
33 acroosteolysis 10.0 LMNA ZMPSTE24
34 ovarian cystadenoma 10.0 LMNA ZMPSTE24
35 hypertriglyceridemia, familial 10.0
36 vitamin d-dependent rickets, type 2a 10.0
37 childhood type dermatomyositis 10.0
38 ectodermal dysplasia 10.0
39 liver disease 10.0
40 dermatomyositis 10.0
41 rickets 10.0
42 ovarian disease 10.0
43 retinal degeneration 10.0
44 neuropathy 10.0
45 nonalcoholic steatohepatitis 10.0
46 hereditary hypophosphatemic rickets 10.0
47 reynolds syndrome 10.0 LMNA ZMPSTE24
48 lipodystrophy, familial partial, type 3 10.0 AGPAT2 BSCL2 LMNA
49 peripheral pulmonary stenosis 10.0
50 diabetic polyneuropathy 9.9

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:

47 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 AGPAT2 BSCL2 CAV1 CAVIN1 FOS LEP
2 cellular MP:0005384 10.14 BSCL2 CAV1 CAVIN1 FOS LEP LMNA
3 homeostasis/metabolism MP:0005376 10.11 AGPAT2 BSCL2 CAV1 CAVIN1 FOS LEP
4 growth/size/body region MP:0005378 10.1 AGPAT2 BSCL2 CAV1 CAVIN1 FOS LEP
5 endocrine/exocrine gland MP:0005379 10.05 AGPAT2 BSCL2 CAV1 FOS LEP LMNA
6 adipose tissue MP:0005375 10.04 AGPAT2 BSCL2 CAV1 LEP LMNA ZMPSTE24
7 cardiovascular system MP:0005385 10.02 BSCL2 CAV1 CAVIN1 LEP LMNA ZMPSTE24
8 hematopoietic system MP:0005397 10.02 AGPAT2 BSCL2 CAV1 FOS LEP LMNA
9 digestive/alimentary MP:0005381 10 AGPAT2 BSCL2 CAV1 LEP LMNA ZMPSTE24
10 immune system MP:0005387 9.98 AGPAT2 BSCL2 CAV1 FOS LEP LMNA
11 integument MP:0010771 9.95 AGPAT2 BSCL2 CAV1 FOS LEP LMNA
12 liver/biliary system MP:0005370 9.87 AGPAT2 BSCL2 CAV1 LEP LMNA NHLRC1
13 mortality/aging MP:0010768 9.86 AGPAT2 BSCL2 CAV1 CAVIN1 FOS LEP
14 limbs/digits/tail MP:0005371 9.77 AGPAT2 FOS LEP LMNA ZMPSTE24
15 muscle MP:0005369 9.63 CAV1 CAVIN1 LEP LMNA NHLRC1 ZMPSTE24
16 renal/urinary system MP:0005367 9.5 AGPAT2 BSCL2 CAV1 CAVIN1 LEP LMNA
17 skeleton MP:0005390 9.17 AGPAT2 BSCL2 CAV1 FOS LEP LMNA

Drugs & Therapeutics for Congenital Generalized Lipodystrophy

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 insulin Phase 2, Phase 3
2 Insulin, Globin Zinc Phase 2, Phase 3
3
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
4 Cathartics Phase 2
5 Gastrointestinal Agents Phase 2
6 Laxatives Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Trial of Leptin Replacement Therapy in Patients With Lipodystrophy Completed NCT00896298 Phase 2, Phase 3 Leptin;Placebo
2 Compassionate Use of Metreleptin in Previously Treated People With Generalized Lipodystrophy Enrolling by invitation NCT02262832 Phase 3 Metreleptin
3 Compassionate Use of Metreleptin in Previously Treated People With Partial Lipodystrophy Enrolling by invitation NCT02262806 Phase 3 Metreleptin
4 Leptin to Treat Lipodystrophy Completed NCT00025883 Phase 2 Metreleptin
5 Phase 2 Study of Obeticholic Acid for Lipodystrophy Patients Recruiting NCT02430077 Phase 2 Obeticholic Acid;Placebo
6 Expanded Access Metreleptin Study Active, not recruiting NCT02404896 Phase 2 Metreleptin
7 Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With With Familial Partial Lipodystrophy (FPL) Active, not recruiting NCT03514420 Phase 2 AKCEA-ANGPTL3-LRX
8 Lipodystrophy Connect Patient Registry Completed NCT02577952
9 Registry for Patients With Lipodystrophy Recruiting NCT03553420

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 30
2 Generalized Lipodystrophy 30

Anatomical Context for Congenital Generalized Lipodystrophy

MalaCards organs/tissues related to Congenital Generalized Lipodystrophy:

42
Liver, Heart, Skin, Bone, Thyroid, Adipocyte, Skeletal Muscle

Publications for Congenital Generalized Lipodystrophy

Articles related to Congenital Generalized Lipodystrophy:

(show top 50) (show all 144)
# Title Authors Year
1
Congenital generalized lipodystrophy in Taiwan. ( 29478747 )
2019
2
Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations. ( 30476128 )
2019
3
Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report. ( 30745727 )
2019
4
Aggressive papillary thyroid carcinoma in a child with type 2 congenital generalized lipodystrophy. ( 30864635 )
2019
5
Bone Density in Patients With Berardinelli-Seip Congenital Lipodystrophy Is Higher in Trabecular Sites and in Type 2 Patients. ( 27894728 )
2018
6
Nurses' knowledge about Berardinelli-Seip Congenital Lipodystrophy. ( 29864145 )
2018
7
Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects. ( 30208912 )
2018
8
Early commitment of cardiovascular autonomic modulation in Brazilian patients with congenital generalized lipodystrophy. ( 29329523 )
2018
9
Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy. ( 29883474 )
2018
10
Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants. ( 30266686 )
2018
11
Type 2 Congenital Generalized Lipodystrophy: The Diagnosis is in Your Hands. ( 30579587 )
2018
12
High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil. ( 29046728 )
2017
13
Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy. ( 27612026 )
2017
14
Normal bone density and trabecular bone score, but high serum sclerostin in congenital generalized lipodystrophy. ( 28390904 )
2017
15
Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy. ( 28916377 )
2017
16
Congenital Generalized Lipodystrophy Type 2 in a Patient From a High-Prevalence Area. ( 29264552 )
2017
17
Case report: Dental management of Berardinelli-Seip congenital lipodystrophy. ( 26573975 )
2016
18
Berardinelli-Seip Congenital Lipodystrophy 2/Seipin Is Not Required for Brown Adipogenesis but Regulates Brown Adipose Tissue Development and Function. ( 27185876 )
2016
19
Conversations between insulin and bone: Potential mechanism of high bone density in patients with Berardinelli-Seip Congenital Lipodystrophy. ( 27876139 )
2016
20
Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum. ( 26072926 )
2016
21
Successful cardiac transplantation in a patient with congenital generalized lipodystrophy. ( 26821845 )
2016
22
Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy. ( 26985241 )
2016
23
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey. ( 27144933 )
2016
24
Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency. ( 27144934 )
2016
25
Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4. ( 27167729 )
2016
26
Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy. ( 27189019 )
2016
27
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. ( 27632409 )
2016
28
Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy. ( 27717241 )
2016
29
Cardiac Manifestations of Congenital Generalized Lipodystrophy. ( 27766009 )
2016
30
Berardinelli-Seip congenital lipodystrophy 2 regulates adipocyte lipolysis, browning, and energy balance in adult animals. ( 26269358 )
2015
31
Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family. ( 25721873 )
2015
32
A very rare cause of acute pancreatitis: Berardinelli-Seip congenital lipodystrophy. ( 25910311 )
2014
33
Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps. ( 24825083 )
2014
34
Berardinelli-Seip congenital lipodystrophy in two siblings. ( 25506557 )
2014
35
Divergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. a clinical, genetic and in silico study. ( 24498038 )
2014
36
Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome. ( 24980513 )
2014
37
Bone mineral content in patients with congenital generalized lipodystrophy is unaffected by metreleptin replacement therapy. ( 25070319 )
2014
38
AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome. ( 23337016 )
2013
39
An incidental finding of striking muscular hypertrophy leading to a diagnosis of Berardinelli Seip Congenital Lipodystrophy. ( 24023365 )
2013
40
Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood. ( 23489663 )
2013
41
Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family. ( 23659685 )
2013
42
A mutation in the c-fos gene associated with congenital generalized lipodystrophy. ( 23919306 )
2013
43
Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation. ( 22269949 )
2012
44
Pregnancy in a woman with congenital generalized lipodystrophy: leptin's vital role in reproduction. ( 22270436 )
2012
45
Delayed emergence from anesthesia in a child with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). ( 22272673 )
2012
46
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1. ( 22902344 )
2012
47
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. ( 23430896 )
2012
48
Pathology of congenital generalized lipodystrophy in Agpat2-/- mice. ( 21051554 )
2011
49
Congenital generalized lipodystrophy of Berardinelli-Seip type: a rare case. ( 21508592 )
2011
50
Serum retinol binding protein 4 is not decreased in congenital generalized lipodystrophy: a case series. ( 21779631 )
2011

Variations for Congenital Generalized Lipodystrophy

ClinVar genetic disease variations for Congenital Generalized Lipodystrophy:

6 (show top 50) (show all 148)
# Gene Variation Type Significance SNP ID Assembly Location
1 AGPAT2 NM_006412.3(AGPAT2): c.317-7C> T single nucleotide variant Benign/Likely benign rs74584184 GRCh37 Chromosome 9, 139571595: 139571595
2 AGPAT2 NM_006412.3(AGPAT2): c.317-7C> T single nucleotide variant Benign/Likely benign rs74584184 GRCh38 Chromosome 9, 136677143: 136677143
3 BSCL2 NM_032667.6(BSCL2): c.1088T> C (p.Leu363Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs145649423 GRCh38 Chromosome 11, 62690476: 62690476
4 BSCL2 NM_032667.6(BSCL2): c.1088T> C (p.Leu363Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs145649423 GRCh37 Chromosome 11, 62457948: 62457948
5 BSCL2 NM_032667.6(BSCL2): c.945A> G (p.Glu315=) single nucleotide variant Benign rs6856 GRCh37 Chromosome 11, 62458275: 62458275
6 BSCL2 NM_032667.6(BSCL2): c.945A> G (p.Glu315=) single nucleotide variant Benign rs6856 GRCh38 Chromosome 11, 62690803: 62690803
7 BSCL2 NM_001130702.2(BSCL2): c.833C> T (p.Pro278Leu) single nucleotide variant Likely benign rs17850877 GRCh38 Chromosome 11, 62690679: 62690679
8 BSCL2 NM_001130702.2(BSCL2): c.833C> T (p.Pro278Leu) single nucleotide variant Likely benign rs17850877 GRCh37 Chromosome 11, 62458151: 62458151
9 BSCL2 NM_032667.6(BSCL2): c.908C> T (p.Pro303Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144245125 GRCh37 Chromosome 11, 62458312: 62458312
10 BSCL2 NM_032667.6(BSCL2): c.908C> T (p.Pro303Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144245125 GRCh38 Chromosome 11, 62690840: 62690840
11 BSCL2 NM_032667.6(BSCL2): c.396C> T (p.Cys132=) single nucleotide variant Conflicting interpretations of pathogenicity rs369806785 GRCh38 Chromosome 11, 62694610: 62694610
12 BSCL2 NM_032667.6(BSCL2): c.396C> T (p.Cys132=) single nucleotide variant Conflicting interpretations of pathogenicity rs369806785 GRCh37 Chromosome 11, 62462082: 62462082
13 BSCL2 NM_032667.6(BSCL2): c.553G> A (p.Ala185Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs10776 GRCh38 Chromosome 11, 62692683: 62692683
14 BSCL2 NM_032667.6(BSCL2): c.553G> A (p.Ala185Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs10776 GRCh37 Chromosome 11, 62460155: 62460155
15 BSCL2 NM_032667.6(BSCL2): c.256G> A (p.Val86Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149412531 GRCh38 Chromosome 11, 62702506: 62702506
16 BSCL2 NM_032667.6(BSCL2): c.256G> A (p.Val86Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149412531 GRCh37 Chromosome 11, 62469978: 62469978
17 AGPAT2 NM_006412.3(AGPAT2): c.345C> T (p.Cys115=) single nucleotide variant Benign/Likely benign rs73668354 GRCh38 Chromosome 9, 136677108: 136677108
18 AGPAT2 NM_006412.3(AGPAT2): c.345C> T (p.Cys115=) single nucleotide variant Benign/Likely benign rs73668354 GRCh37 Chromosome 9, 139571560: 139571560
19 AGPAT2 NM_006412.3(AGPAT2): c.49_51dupCTG (p.Leu17_Val18insLeu) duplication Benign/Likely benign rs745429291 GRCh37 Chromosome 9, 139581759: 139581761
20 AGPAT2 NM_006412.3(AGPAT2): c.49_51dupCTG (p.Leu17_Val18insLeu) duplication Benign/Likely benign rs745429291 GRCh38 Chromosome 9, 136687307: 136687309
21 BSCL2 NM_001122955.3(BSCL2): c.765+15C> T single nucleotide variant Benign rs79586077 GRCh38 Chromosome 11, 62692648: 62692648
22 BSCL2 NM_001122955.3(BSCL2): c.765+15C> T single nucleotide variant Benign rs79586077 GRCh37 Chromosome 11, 62460120: 62460120
23 BSCL2 NM_001122955.3(BSCL2): c.486+11G> T single nucleotide variant Benign rs72929434 GRCh38 Chromosome 11, 62702457: 62702457
24 BSCL2 NM_001122955.3(BSCL2): c.486+11G> T single nucleotide variant Benign rs72929434 GRCh37 Chromosome 11, 62469929: 62469929
25 AGPAT2 NM_006412.3(AGPAT2): c.*535C> T single nucleotide variant Likely benign rs138670030 GRCh38 Chromosome 9, 136673217: 136673217
26 AGPAT2 NM_006412.3(AGPAT2): c.*535C> T single nucleotide variant Likely benign rs138670030 GRCh37 Chromosome 9, 139567669: 139567669
27 AGPAT2 NM_006412.3(AGPAT2): c.*442C> G single nucleotide variant Benign rs6951 GRCh38 Chromosome 9, 136673310: 136673310
28 AGPAT2 NM_006412.3(AGPAT2): c.*442C> G single nucleotide variant Benign rs6951 GRCh37 Chromosome 9, 139567762: 139567762
29 AGPAT2 NM_006412.3(AGPAT2): c.*418G> A single nucleotide variant Uncertain significance rs886063718 GRCh38 Chromosome 9, 136673334: 136673334
30 AGPAT2 NM_006412.3(AGPAT2): c.*418G> A single nucleotide variant Uncertain significance rs886063718 GRCh37 Chromosome 9, 139567786: 139567786
31 AGPAT2 NM_006412.3(AGPAT2): c.*239G> A single nucleotide variant Likely benign rs56310643 GRCh38 Chromosome 9, 136673513: 136673513
32 AGPAT2 NM_006412.3(AGPAT2): c.*239G> A single nucleotide variant Likely benign rs56310643 GRCh37 Chromosome 9, 139567965: 139567965
33 AGPAT2 NM_006412.3(AGPAT2): c.*217G> A single nucleotide variant Uncertain significance rs886063720 GRCh38 Chromosome 9, 136673535: 136673535
34 AGPAT2 NM_006412.3(AGPAT2): c.*217G> A single nucleotide variant Uncertain significance rs886063720 GRCh37 Chromosome 9, 139567987: 139567987
35 AGPAT2 NM_006412.3(AGPAT2): c.*212_*217dupGGCTCG duplication Likely benign rs145169122 GRCh38 Chromosome 9, 136673535: 136673540
36 AGPAT2 NM_006412.3(AGPAT2): c.*212_*217dupGGCTCG duplication Likely benign rs145169122 GRCh37 Chromosome 9, 139567987: 139567992
37 AGPAT2 NM_006412.3(AGPAT2): c.820G> A (p.Val274Met) single nucleotide variant Uncertain significance rs368902934 GRCh37 Chromosome 9, 139568221: 139568221
38 AGPAT2 NM_006412.3(AGPAT2): c.820G> A (p.Val274Met) single nucleotide variant Uncertain significance rs368902934 GRCh38 Chromosome 9, 136673769: 136673769
39 AGPAT2 NM_006412.3(AGPAT2): c.662-5C> G single nucleotide variant Uncertain significance rs199964729 GRCh37 Chromosome 9, 139568384: 139568384
40 AGPAT2 NM_006412.3(AGPAT2): c.662-5C> G single nucleotide variant Uncertain significance rs199964729 GRCh38 Chromosome 9, 136673932: 136673932
41 AGPAT2 NM_006412.3(AGPAT2): c.189C> T (p.Ile63=) single nucleotide variant Likely benign rs150180733 GRCh37 Chromosome 9, 139572002: 139572002
42 AGPAT2 NM_006412.3(AGPAT2): c.189C> T (p.Ile63=) single nucleotide variant Likely benign rs150180733 GRCh38 Chromosome 9, 136677550: 136677550
43 AGPAT2 NM_006412.3(AGPAT2): c.-61G> C single nucleotide variant Uncertain significance rs886063725 GRCh38 Chromosome 9, 136687418: 136687418
44 AGPAT2 NM_006412.3(AGPAT2): c.-61G> C single nucleotide variant Uncertain significance rs886063725 GRCh37 Chromosome 9, 139581870: 139581870
45 AGPAT2 NM_006412.3(AGPAT2): c.-62G> A single nucleotide variant Uncertain significance rs566958496 GRCh38 Chromosome 9, 136687419: 136687419
46 AGPAT2 NM_006412.3(AGPAT2): c.-62G> A single nucleotide variant Uncertain significance rs566958496 GRCh37 Chromosome 9, 139581871: 139581871
47 AGPAT2 NM_006412.3(AGPAT2): c.-67G> C single nucleotide variant Likely benign rs146341067 GRCh38 Chromosome 9, 136687424: 136687424
48 AGPAT2 NM_006412.3(AGPAT2): c.-67G> C single nucleotide variant Likely benign rs146341067 GRCh37 Chromosome 9, 139581876: 139581876
49 AGPAT2 NM_006412.3(AGPAT2): c.*201G> C single nucleotide variant Uncertain significance rs567964604 GRCh38 Chromosome 9, 136673551: 136673551
50 AGPAT2 NM_006412.3(AGPAT2): c.*201G> C single nucleotide variant Uncertain significance rs567964604 GRCh37 Chromosome 9, 139568003: 139568003

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:

# Super pathways Score Top Affiliating Genes
1 11.99 CAV1 CAVIN1 LMNA
2 11.18 FOS LEP
3 11.14 AGPAT2 BSCL2 LEP LMNA ZMPSTE24
4 10.96 CAV1 LEP
5
Show member pathways
10.63 FOS LEP
6 10.3 CAV1 FOS

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 9.26 AGPAT2 BSCL2 CAV1 ZMPSTE24
2 endoplasmic reticulum GO:0005783 9.17 AGPAT2 BSCL2 CAV1 CAVIN1 FOS NHLRC1
3 caveola GO:0005901 9.16 CAV1 CAVIN1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein ubiquitination GO:0031398 9.46 CAV1 NHLRC1
2 response to progesterone GO:0032570 9.43 CAV1 FOS
3 nucleus organization GO:0006997 9.4 LMNA ZMPSTE24
4 positive regulation of cytokine production GO:0001819 9.37 AGPAT2 LEP
5 lipid storage GO:0019915 9.32 BSCL2 CAV1
6 regulation of nitric-oxide synthase activity GO:0050999 9.26 CAV1 LEP
7 nuclear envelope organization GO:0006998 9.16 LMNA ZMPSTE24
8 positive regulation of cold-induced thermogenesis GO:0120162 9.13 BSCL2 CAV1 LEP
9 regulation of protein localization to nucleus GO:1900180 8.62 LEP LMNA

Sources for Congenital Generalized Lipodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
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47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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