CGL2
MCID: LPD033
MIFTS: 54

Lipodystrophy, Congenital Generalized, Type 2 (CGL2)

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

Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 2

MalaCards integrated aliases for Lipodystrophy, Congenital Generalized, Type 2:

Name: Lipodystrophy, Congenital Generalized, Type 2 56 13 39
Congenital Generalized Lipodystrophy Type 2 12 52 29 6 15 71
Total Lipodystrophy and Acromegaloid Gigantism 12 52 73
Cgl2 56 12 73
Berardinelli-Seip Congenital Lipodystrophy Type 2 12 73
Brunzell Syndrome Bscl2-Related 12 73
Berardinelli-Seip Syndrome 12 73
Berardinelli Syndrome 56 52
Lipodystrophy, Berardinelli-Seip Congenital, Type 2 56
Berardinelli-Seip Congenital Lipodystrophy, Type 2 56
Berardinelli Seip Congenital Lipodystrophy Type 2 52
Lipodystrophy, Total, and Acromegaloid Gigantism 56
Congenital Generalized Lipodystrophy 2 73
Familial Partial Lipodystrophy, Type 2 71
Familial Generalized Lipodystrophy 71
Lipoatrophic Diabetes, Congenital 56
Brunzell Syndrome, Bscl2-Related 56
Congenital Lipoatrophic Diabetes 12
Bscl2-Related Brunzell Syndrome 52
Lipodystrophy Berardinelli Type 73
Lipoatrophic Diabetes Mellitus 71
Lipoatrophic Diabetes 73
Seip Syndrome 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or early infancy


HPO:

31
lipodystrophy, congenital generalized, type 2:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course congenital onset


Classifications:



Summaries for Lipodystrophy, Congenital Generalized, Type 2

OMIM : 56 Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004). For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594). (269700)

MalaCards based summary : Lipodystrophy, Congenital Generalized, Type 2, also known as congenital generalized lipodystrophy type 2, is related to berardinelli-seip congenital lipodystrophy and lipodystrophy, familial partial, type 2, and has symptoms including myalgia An important gene associated with Lipodystrophy, Congenital Generalized, Type 2 is BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin), and among its related pathways/superpathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Glucose / Energy Metabolism. The drugs Empagliflozin and Sodium-Glucose Transporter 2 Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and ovary, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.

UniProtKB/Swiss-Prot : 73 Congenital generalized lipodystrophy 2: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.

Related Diseases for Lipodystrophy, Congenital Generalized, Type 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 115)
# Related Disease Score Top Affiliating Genes
1 berardinelli-seip congenital lipodystrophy 32.2 PPARG LEP CAVIN1 CAV1 BSCL2 AGPAT2
2 lipodystrophy, familial partial, type 2 31.3 PPARG PLIN1 LMNA LEP INS CIDEC
3 lipodystrophy, congenital generalized, type 3 31.0 LPIN1 LGALSL GPAT3 CAVIN1 CAV1 BSCL2
4 lipodystrophy, congenital generalized, type 1 31.0 PPARG LPIN1 LMNA LEP INS CAVIN1
5 acquired generalized lipodystrophy 30.8 PLIN1 LMNA LEP INS CIDEC CAVIN1
6 acquired lipodystrophy 30.6 CAV1 BSCL2
7 fatty liver disease, nonalcoholic 1 30.3 LEP INS
8 non-alcoholic steatohepatitis 30.2 PPARG INS
9 acanthosis nigricans 30.0 PPARG LMNA LEP INS
10 diabetes mellitus 29.8 PPARG PLIN1 LMNA LEP INS BSCL2
11 abdominal obesity-metabolic syndrome 1 29.7 PPARG LEP INS
12 lipid metabolism disorder 29.4 PPARG LMNA LEP INS
13 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 29.4 LPIN1 LMNA LEP INS BSCL2 AGPAT2
14 congenital generalized lipodystrophy 29.0 PPARG PLIN1 LPIN1 LMNA LGALSL LEP
15 diabetes mellitus, noninsulin-dependent 28.0 PPARG PLIN1 LPIN1 LMNA LEP INS
16 aredyld 12.3
17 hypertriglyceridemia, familial 10.4
18 spastic paraplegia 17, autosomal dominant 10.2 TMEM159 BSCL2 AGPAT2
19 hyperinsulinism 10.2
20 hyperglycemia 10.2
21 adiposis dolorosa 10.2 CIDEC BSCL2 AGPAT2
22 dermatomyositis 10.1
23 nephrotic syndrome 10.1
24 subvalvular aortic stenosis 10.1
25 hyperthyroidism 10.1
26 neuropathy 10.1
27 fatty liver disease 10.1
28 diabetic neuropathy 10.1
29 polycystic ovary syndrome 10.1
30 acromegaly 10.1
31 hypothalamic obesity 10.1 LEP INS
32 donohue syndrome 10.0 INS BSCL2 AGPAT2
33 scleroderma, familial progressive 10.0
34 teeth present at birth 10.0
35 diabetes mellitus, insulin-dependent 10.0
36 galactorrhea 10.0
37 vitamin d-dependent rickets, type 2a 10.0
38 huntington disease-like 2 10.0
39 diabetes mellitus, insulin-resistant, with acanthosis nigricans 10.0
40 microvascular complications of diabetes 3 10.0
41 microvascular complications of diabetes 4 10.0
42 microvascular complications of diabetes 5 10.0
43 microvascular complications of diabetes 6 10.0
44 microvascular complications of diabetes 7 10.0
45 muscle hypertrophy 10.0
46 hyperprolactinemia 10.0
47 autosomal recessive disease 10.0
48 scoliosis 10.0
49 rickets 10.0
50 ovarian disease 10.0

Graphical network of the top 20 diseases related to Lipodystrophy, Congenital Generalized, Type 2:



Diseases related to Lipodystrophy, Congenital Generalized, Type 2

Symptoms & Phenotypes for Lipodystrophy, Congenital Generalized, Type 2

Human phenotypes related to Lipodystrophy, Congenital Generalized, Type 2:

31 (show all 38)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 macrotia 31 HP:0000400
4 mandibular prognathia 31 HP:0000303
5 umbilical hernia 31 HP:0001537
6 intellectual disability, mild 31 HP:0001256
7 hypertrophic cardiomyopathy 31 HP:0001639
8 hypertriglyceridemia 31 HP:0002155
9 acanthosis nigricans 31 HP:0000956
10 cirrhosis 31 HP:0001394
11 hepatic steatosis 31 HP:0001397
12 elevated hepatic transaminase 31 HP:0002910
13 hyperinsulinemia 31 HP:0000842
14 lipodystrophy 31 HP:0009125
15 polycystic ovaries 31 HP:0000147
16 decreased fertility 31 HP:0000144
17 nephrolithiasis 31 HP:0000787
18 polyphagia 31 HP:0002591
19 tall stature 31 HP:0000098
20 triangular face 31 HP:0000325
21 high pitched voice 31 HP:0001620
22 large hands 31 HP:0001176
23 accelerated skeletal maturation 31 HP:0005616
24 decreased fertility in females 31 HP:0000868
25 decreased serum leptin 31 HP:0003292
26 hirsutism 31 HP:0001007
27 long foot 31 HP:0001833
28 clitoral hypertrophy 31 HP:0008665
29 reduced subcutaneous adipose tissue 31 HP:0003758
30 insulin-resistant diabetes mellitus at puberty 31 HP:0000877
31 acute pancreatitis 31 HP:0001735
32 reduced intraabdominal adipose tissue 31 HP:0025128
33 labial hypertrophy 31 HP:0000065
34 ventricular septal hypertrophy 31 HP:0005144
35 cystic angiomatosis of bone 31 HP:0002833
36 prominent umbilicus 31 HP:0001544
37 generalized muscular appearance from birth 31 HP:0003716
38 reduced intrathoracic adipose tissue 31 HP:0003809

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Abdomen External Features:
umbilical hernia
prominent umbilicus

Laboratory Abnormalities:
hypertriglyceridemia
hyperinsulinemia
decreased serum leptin
elevated liver enzymes

Genitourinary Internal Genitalia Female:
polycystic ovaries
decreased fertility in females

Genitourinary External Genitalia Female:
clitoromegaly
labial hypertrophy

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

Muscle Soft Tissue:
nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)
generalized muscular appearance from birth
hernias
nearly complete absence of mechanical adipose tissue (joints, orbits, palms, soles)

Skeletal Feet:
large feet

Head And Neck Ears:
large ears

Head And Neck Face:
triangular facies
large mandible
acromegaloid appearance

Genitourinary:
genital anomalies

Abdomen Pancreas:
pancreatitis, acute

Abdomen Liver:
hepatomegaly
cirrhosis
hepatic steatosis

Cardiovascular Heart:
hypertrophic cardiomyopathy

Skin Nails Hair Skin:
acanthosis nigricans

Genitourinary Kidneys:
nephrolithiasis

Skeletal Hands:
large hands

Skin Nails Hair Hair:
hirsutism

Skeletal:
advanced bone age
lytic cystic lesions in appendicular bones (occurs after puberty)

Neurologic Central Nervous System:
mental retardation, mild

Voice:
high-pitched voice

Abdomen Gastrointestinal:
voracious appetite

Growth Height:
increased linear growth

Clinical features from OMIM:

269700

UMLS symptoms related to Lipodystrophy, Congenital Generalized, Type 2:


myalgia

MGI Mouse Phenotypes related to Lipodystrophy, Congenital Generalized, Type 2:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.27 AGPAT2 BSCL2 CAV1 CAVIN1 CIDEC GPAT3
2 adipose tissue MP:0005375 10.25 AGPAT2 BSCL2 CAV1 CIDEC GPAT3 INS
3 growth/size/body region MP:0005378 10.22 AGPAT2 BSCL2 CAV1 CAVIN1 CIDEC FUT8
4 homeostasis/metabolism MP:0005376 10.15 AGPAT2 BSCL2 CAV1 CAVIN1 CIDEC GPAT3
5 cardiovascular system MP:0005385 10.13 BSCL2 CAV1 CAVIN1 FUT8 INS LEP
6 endocrine/exocrine gland MP:0005379 10.03 AGPAT2 BSCL2 CAV1 INS LEP LMNA
7 liver/biliary system MP:0005370 10.03 AGPAT2 BSCL2 CAV1 CIDEC FUT8 GPAT3
8 integument MP:0010771 10.02 AGPAT2 BSCL2 CAV1 CIDEC INS LEP
9 digestive/alimentary MP:0005381 10 AGPAT2 BSCL2 CAV1 FUT8 INS LEP
10 muscle MP:0005369 9.76 CAV1 CAVIN1 INS LEP LMNA LPIN1
11 renal/urinary system MP:0005367 9.56 AGPAT2 BSCL2 CAV1 CAVIN1 INS LEP
12 skeleton MP:0005390 9.28 AGPAT2 BSCL2 CAV1 FUT8 INS LEP

Drugs & Therapeutics for Lipodystrophy, Congenital Generalized, Type 2

Drugs for Lipodystrophy, Congenital Generalized, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 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
3 Long-Term Efficacy of Leptin Replacement in Treatment of Lipodystrophy Completed NCT00025883 Phase 2 Metreleptin
4 Efficacy of Leptin Replacement in Treatment of Lipodystrophy Completed NCT00005905 Phase 2 hu Leptin (A-100)

Search NIH Clinical Center for Lipodystrophy, Congenital Generalized, Type 2

Genetic Tests for Lipodystrophy, Congenital Generalized, Type 2

Genetic tests related to Lipodystrophy, Congenital Generalized, Type 2:

# Genetic test Affiliating Genes
1 Congenital Generalized Lipodystrophy Type 2 29 BSCL2

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 2

MalaCards organs/tissues related to Lipodystrophy, Congenital Generalized, Type 2:

40
Liver, Bone, Ovary, Skin, Adipocyte, Kidney, Pancreas

Publications for Lipodystrophy, Congenital Generalized, Type 2

Articles related to Lipodystrophy, Congenital Generalized, Type 2:

(show all 30)
# Title Authors PMID Year
1
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. 56 6
19041432 2009
2
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. 56 6
15181077 2004
3
Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. 56 6
15126564 2004
4
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. 56 6
11479539 2001
5
Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum. 56
26072926 2016
6
The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology. 6
18093937 2007
7
Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. 6
18057387 2007
8
Acquired and inherited lipodystrophies. 56
15028826 2004
9
Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. 56
14602785 2003
10
Berardinelli-Seip Congenital Lipodystrophy 6
20301391 2003
11
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. 56
12362029 2002
12
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. 56
11967537 2002
13
Cardiomyopathy in congenital complete lipodystrophy. 6
12030893 2002
14
Generalized lipodystrophy, congenital and acquired (lipoatrophy). 56
8783769 1996
15
Changes in redox and endoplasmic reticulum homeostasis are related to congenital generalized lipodystrophy type 2. 61
31917334 2020
16
Seipin-linked congenital generalized lipodystrophy type 2: a rare case with multiple lytic and pseudo-osteopoikilosis lesions. 61
31853371 2019
17
Berardinelli Seip Congenital Lipodystrophy Syndrome: 10 Year Follow-up. 61
31724546 2019
18
Berardinelli-Seip syndrome and progressive myoclonus epilepsy. 61
30767895 2019
19
Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study. 61
28754454 2017
20
Congenital Generalized Lipodystrophy Type 2 in a Patient From a High-Prevalence Area. 61
29264552 2017
21
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. 61
27632409 2016
22
Seipin knockout in mice impairs stem cell proliferation and progenitor cell differentiation in the adult hippocampal dentate gyrus via reduced levels of PPARγ. 61
26398946 2015
23
Control of lipid droplet size in budding yeast requires the collaboration between Fld1 and Ldb16. 61
24434579 2014
24
Seipin differentially regulates lipogenesis and adipogenesis through a conserved core sequence and an evolutionarily acquired C-terminus. 61
23458123 2013
25
Seipin regulates excitatory synaptic transmission in cortical neurons. 61
23173741 2013
26
Altered lipid metabolism in residual white adipose tissues of Bscl2 deficient mice. 61
24358199 2013
27
[BSCL2-related neurologic disorders/seipinopathy: endoplasmic reticulum stress in neurodegeneration]. 61
22277529 2011
28
The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. 61
19574402 2009
29
Seipinopathy: a novel endoplasmic reticulum stress-associated disease. 61
18790819 2009
30
[Seipin/BSCL2-related motor neuron disease: Seipinopathy is a novel conformational disease associated with endoplasmic reticulum stress]. 61
17633104 2007

Variations for Lipodystrophy, Congenital Generalized, Type 2

ClinVar genetic disease variations for Lipodystrophy, Congenital Generalized, Type 2:

6 (show all 33) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BSCL2 NM_032667.6(BSCL2):c.192_193delinsGGA (p.Ser64fs)indel Pathogenic 4531 rs786205068 11:62472792-62472793 11:62705320-62705321
2 BSCL2 NM_032667.6(BSCL2):c.301_302insAA (p.Met101fs)insertion Pathogenic 4532 rs786205069 11:62462176-62462177 11:62694704-62694705
3 BSCL2 NM_032667.6(BSCL2):c.315_316del (p.Tyr106fs)deletion Pathogenic 4533 rs786205070 11:62462162-62462163 11:62694690-62694691
4 BSCL2 BSCL2, 258-BP DEL/12-BP INSindel Pathogenic 4534
5 BSCL2 NM_032667.6(BSCL2):c.317_321del (p.Tyr106fs)deletion Pathogenic 4535 rs587777608 11:62462157-62462161 11:62694685-62694689
6 BSCL2 NM_032667.6(BSCL2):c.325dup (p.Thr109fs)duplication Pathogenic 4536 rs786205071 11:62462152-62462153 11:62694680-62694681
7 BSCL2 NM_001122955.3(BSCL2):c.604C>T (p.Arg202Ter)SNV Pathogenic 4537 rs137852970 11:62462066-62462066 11:62694594-62694594
8 BSCL2 NM_032667.6:c.438+1G>ASNV Pathogenic 4538
9 BSCL2 NM_001122955.3(BSCL2):c.826G>C (p.Ala276Pro)SNV Pathogenic 4539 rs137852971 11:62459885-62459885 11:62692413-62692413
10 BSCL2 NM_032667.6(BSCL2):c.636del (p.Tyr213fs)deletion Pathogenic 4540 rs758843908 11:62459883-62459883 11:62692411-62692411
11 BSCL2 NM_032667.6(BSCL2):c.671+5G>ASNV Pathogenic 4541 rs786205072 11:62459843-62459843 11:62692371-62692371
12 BSCL2 NM_032667.6(BSCL2):c.672-3C>GSNV Pathogenic 4542 rs786205073 11:62458896-62458896 11:62691424-62691424
13 BSCL2 NM_032667.6(BSCL2):c.823C>T (p.Arg275Ter)SNV Pathogenic 4545 rs137852974 11:62458604-62458604 11:62691132-62691132
14 BSCL2 NM_032667.6(BSCL2):c.565G>T (p.Glu189Ter)SNV Pathogenic 4546 rs137852975 11:62460143-62460143 11:62692671-62692671
15 BSCL2 NM_032667.6(BSCL2):c.793C>T (p.Arg265Ter)SNV Pathogenic 143858 rs587777606 11:62458772-62458772 11:62691300-62691300
16 BSCL2 NM_032667.6(BSCL2):c.782dup (p.Ile262fs)duplication Pathogenic 372120 rs749890533 11:62458782-62458783 11:62691310-62691311
17 BSCL2 NM_032667.6(BSCL2):c.672-2A>GSNV Pathogenic 372119 rs766061024 11:62458895-62458895 11:62691423-62691423
18 BSCL2 NM_032667.6(BSCL2):c.672-2A>CSNV Pathogenic 372118 rs766061024 11:62458895-62458895 11:62691423-62691423
19 BSCL2 NM_032667.6(BSCL2):c.574-2A>GSNV Pathogenic 372117 rs1013079991 11:62459947-62459947 11:62692475-62692475
20 BSCL2 NM_032667.6(BSCL2):c.193delinsGGA (p.Pro65fs)indel Pathogenic 372116 rs1057517659 11:62472792-62472792 11:62705320-62705320
21 BSCL2 NM_032667.6(BSCL2):c.154_155dup (p.Tyr53fs)duplication Pathogenic 372115 rs1057517658 11:62472829-62472830 11:62705357-62705358
22 BSCL2 NM_001122955.3(BSCL2):c.334C>T (p.Leu112Phe)SNV Pathogenic 372114 rs1057517657 11:62472843-62472843 11:62705371-62705371
23 BSCL2 NM_032667.6(BSCL2):c.652_662del (p.Ala218fs)deletion Pathogenic 424623 rs1064797076 11:62459857-62459867 11:62692385-62692395
24 BSCL2 NM_032667.6(BSCL2):c.750dup (p.Leu251fs)duplication Pathogenic 434545 rs1554983076 11:62458814-62458815 11:62691342-62691343
25 BSCL2 NM_032667.6(BSCL2):c.563_564GA[2] (p.Asn190fs)short repeat Pathogenic 549714 rs1565144681 11:62460140-62460141 11:62692668-62692669
26 BSCL2 NM_032667.6(BSCL2):c.212+1G>TSNV Pathogenic 549713 rs1565152616 11:62472772-62472772 11:62705300-62705300
27 BSCL2 NM_032667.6(BSCL2):c.210C>G (p.Tyr70Ter)SNV Pathogenic 549716 rs557044760 11:62472775-62472775 11:62705303-62705303
28 BSCL2 NM_032667.6(BSCL2):c.584C>T (p.Thr195Ile)SNV Pathogenic 623294 rs1565144468 11:62459935-62459935 11:62692463-62692463
29 BSCL2 NM_032667.6(BSCL2):c.814-2A>GSNV Pathogenic/Likely pathogenic 245977 rs879254029 11:62458615-62458615 11:62691143-62691143
30 BSCL2 NM_032667.6(BSCL2):c.1043-2A>CSNV Likely pathogenic 623295 rs1565142553 11:62457995-62457995 11:62690523-62690523
31 BSCL2 NM_032667.6(BSCL2):c.545_546insCCG (p.Glu182delinsAspArg)insertion Likely pathogenic 549715 rs747297291 11:62460162-62460163 11:62692690-62692691
32 BSCL2 NM_032667.6(BSCL2):c.232A>G (p.Thr78Ala)SNV Uncertain significance 631661 rs1565150951 11:62470002-62470002 11:62702530-62702530
33 BSCL2 NM_032667.6(BSCL2):c.1106C>T (p.Ala369Val)SNV Uncertain significance 566241 rs141657385 11:62457930-62457930 11:62690458-62690458

UniProtKB/Swiss-Prot genetic disease variations for Lipodystrophy, Congenital Generalized, Type 2:

73
# Symbol AA change Variation ID SNP ID
1 BSCL2 p.Ala212Pro VAR_022377 rs137852971

Expression for Lipodystrophy, Congenital Generalized, Type 2

Search GEO for disease gene expression data for Lipodystrophy, Congenital Generalized, Type 2.

Pathways for Lipodystrophy, Congenital Generalized, Type 2

GO Terms for Lipodystrophy, Congenital Generalized, Type 2

Cellular components related to Lipodystrophy, Congenital Generalized, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.63 MBOAT2 LPIN1 GPAT3 CAV1 BSCL2 AGPAT2
2 endoplasmic reticulum GO:0005783 9.23 PLIN1 LPIN1 GPAT3 CIDEC CAVIN1 CAV1
3 lipid droplet GO:0005811 9.13 PLIN1 CIDEC CAV1

Biological processes related to Lipodystrophy, Congenital Generalized, Type 2 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 9.65 PPARG LEP INS
2 positive regulation of insulin receptor signaling pathway GO:0046628 9.56 LEP INS
3 lipid storage GO:0019915 9.55 CAV1 BSCL2
4 regulation of nitric-oxide synthase activity GO:0050999 9.54 LEP CAV1
5 regulation of fat cell differentiation GO:0045598 9.52 PPARG LEP
6 lipid droplet organization GO:0034389 9.51 CIDEC BSCL2
7 triglyceride biosynthetic process GO:0019432 9.49 LPIN1 GPAT3
8 negative regulation of lipid catabolic process GO:0050995 9.46 INS BSCL2
9 fatty acid catabolic process GO:0009062 9.43 LPIN1 LEP
10 CDP-diacylglycerol biosynthetic process GO:0016024 9.4 GPAT3 AGPAT2
11 regulation of protein localization to nucleus GO:1900180 9.37 LMNA LEP
12 phospholipid biosynthetic process GO:0008654 9.33 MBOAT2 GPAT3 AGPAT2
13 cellular response to hyperoxia GO:0071455 9.32 PPARG CAV1
14 negative regulation of acute inflammatory response GO:0002674 9.26 PPARG INS
15 positive regulation of cold-induced thermogenesis GO:0120162 9.26 LPIN1 LEP CAV1 BSCL2
16 lipid metabolic process GO:0006629 9.23 PPARG PLIN1 MBOAT2 LPIN1 LEP GPAT3

Molecular functions related to Lipodystrophy, Congenital Generalized, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 1-acylglycerol-3-phosphate O-acyltransferase activity GO:0003841 8.8 MBOAT2 GPAT3 AGPAT2

Sources for Lipodystrophy, Congenital Generalized, Type 2

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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