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 lipodystrophy, familial partial, type 2 and acquired generalized lipodystrophy, 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 Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include bone, liver 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 109)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, familial partial, type 2 32.8 PPARG LMNA LEP CAVIN1 BSCL2 AGPAT2
2 acquired generalized lipodystrophy 32.4 LMNA LEP CAVIN1 BSCL2 AGPAT2
3 lipodystrophy, congenital generalized, type 1 32.1 PPARG LMNA LEP BSCL2 AGPAT2
4 berardinelli-seip congenital lipodystrophy 32.0 PPARG LEP CAVIN1 CAV1 BSCL2 AGPAT2
5 lipodystrophy, congenital generalized, type 3 31.6 LPIN1 CAVIN1 CAV1 BSCL2 AGPAT2
6 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.6 LPIN1 LMNA LEP BSCL2 AGPAT2
7 acquired lipodystrophy 30.4 CAV1 BSCL2
8 acanthosis nigricans 30.2 PPARG LMNA LEP
9 lipid metabolism disorder 29.3 PPARG LMNA LEP
10 congenital generalized lipodystrophy 29.2 TMEM159 PPARG LPIN1 LMNA LGALSL LEP
11 diabetes mellitus, noninsulin-dependent 28.7 PPARG LPIN1 LMNA LEP BSCL2 AGPAT2
12 aredyld 12.3
13 diabetes mellitus 10.8
14 hypertriglyceridemia, familial 10.5
15 adiposis dolorosa 10.3 BSCL2 AGPAT2
16 fatty liver disease, nonalcoholic 1 10.2
17 hyperinsulinism 10.2
18 hyperglycemia 10.2
19 rare genetic diabetes mellitus 10.2 LMNA BSCL2
20 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.2 LMNA BSCL2
21 spastic paraplegia 17, autosomal dominant 10.2 TMEM159 BSCL2 AGPAT2
22 non-alcoholic steatohepatitis 10.2
23 dermatomyositis 10.2
24 nephrotic syndrome 10.2
25 liver cirrhosis 10.2
26 subvalvular aortic stenosis 10.2
27 hyperthyroidism 10.2
28 neuropathy 10.2
29 fatty liver disease 10.2
30 diabetic neuropathy 10.2
31 autosomal dominant distal hereditary motor neuronopathy 10.1 LMNA BSCL2 AGPAT2
32 isolated elevated serum creatine phosphokinase levels 10.1 LMNA CAV1 AGPAT2
33 polycystic ovary syndrome 10.1
34 epilepsy 10.1
35 acromegaly 10.1
36 lipodystrophy, congenital generalized, type 4 10.0 CAVIN1 CAV1 BSCL2 AGPAT2
37 scleroderma, familial progressive 10.0
38 teeth present at birth 10.0
39 diabetes mellitus, type i 10.0
40 galactorrhea 10.0
41 vitamin d-dependent rickets, type 2a 10.0
42 abdominal obesity-metabolic syndrome 1 10.0
43 huntington disease-like 2 10.0
44 diabetes mellitus, insulin-resistant, with acanthosis nigricans 10.0
45 microvascular complications of diabetes 3 10.0
46 microvascular complications of diabetes 4 10.0
47 microvascular complications of diabetes 5 10.0
48 microvascular complications of diabetes 6 10.0
49 microvascular complications of diabetes 7 10.0
50 muscle hypertrophy 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 cirrhosis 31 HP:0001394
10 hepatic steatosis 31 HP:0001397
11 elevated hepatic transaminase 31 HP:0002910
12 hyperinsulinemia 31 HP:0000842
13 lipodystrophy 31 HP:0009125
14 polycystic ovaries 31 HP:0000147
15 decreased fertility 31 HP:0000144
16 nephrolithiasis 31 HP:0000787
17 tall stature 31 HP:0000098
18 high pitched voice 31 HP:0001620
19 triangular face 31 HP:0000325
20 acanthosis nigricans 31 HP:0000956
21 large hands 31 HP:0001176
22 accelerated skeletal maturation 31 HP:0005616
23 hirsutism 31 HP:0001007
24 polyphagia 31 HP:0002591
25 decreased fertility in females 31 HP:0000868
26 long foot 31 HP:0001833
27 clitoral hypertrophy 31 HP:0008665
28 insulin-resistant diabetes mellitus at puberty 31 HP:0000877
29 reduced subcutaneous adipose tissue 31 HP:0003758
30 decreased serum leptin 31 HP:0003292
31 acute pancreatitis 31 HP:0001735
32 labial hypertrophy 31 HP:0000065
33 reduced intraabdominal adipose tissue 31 HP:0025128
34 prominent umbilicus 31 HP:0001544
35 ventricular septal hypertrophy 31 HP:0005144
36 cystic angiomatosis of bone 31 HP:0002833
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 Kidneys:
nephrolithiasis

Skin Nails Hair Skin:
acanthosis nigricans

Skin Nails Hair Hair:
hirsutism

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

Genitourinary Internal Genitalia Female:
polycystic ovaries
decreased fertility in females

Genitourinary External Genitalia Female:
clitoromegaly
labial hypertrophy

Skeletal Hands:
large hands

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

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

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
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 AGPAT1 AGPAT2 BSCL2 CAV1 CAVIN1 GPAT3
2 adipose tissue MP:0005375 10.09 AGPAT1 AGPAT2 BSCL2 CAV1 GPAT3 LEP
3 cardiovascular system MP:0005385 10.02 AGPAT1 BSCL2 CAV1 CAVIN1 FUT8 LEP
4 endocrine/exocrine gland MP:0005379 9.91 AGPAT1 AGPAT2 BSCL2 CAV1 FUT1 LEP
5 growth/size/body region MP:0005378 9.9 AGPAT1 AGPAT2 BSCL2 CAV1 CAVIN1 FUT8
6 digestive/alimentary MP:0005381 9.87 AGPAT2 BSCL2 CAV1 FUT1 FUT8 LEP
7 liver/biliary system MP:0005370 9.61 AGPAT2 BSCL2 CAV1 FUT8 GPAT3 LEP
8 renal/urinary system MP:0005367 9.17 AGPAT2 BSCL2 CAV1 CAVIN1 LEP LMNA

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 Insulin, Globin Zinc Phase 3
3 Hypoglycemic Agents Phase 3
4 Sodium-Glucose Transporter 2 Inhibitors Phase 3
5 insulin Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multicenter, Open-label, Single-arm, Extension Study With Regard to the Safety and Efficacy of Empagliflozin in Patients With Refractory Diabetes Mellitus With Insulin Resistance (EMPIRE-02) Recruiting NCT04221152 Phase 3 Empagliflozin Tablets
2 A Multicenter, Open-label, Single-arm Study With Regard to the Efficacy and Safety of Empagliflozin in Patients With Refractory Diabetes Mellitus With Insulin Resistance Recruiting NCT04018365 Phase 3 Empagliflozin Tablets
3 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
4 Efficacy of Leptin Replacement in Treatment of Lipodystrophy Completed NCT00005905 Phase 2 hu Leptin (A-100)
5 Long-Term Efficacy of Leptin Replacement in Treatment of Lipodystrophy Completed NCT00025883 Phase 2 Metreleptin

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
Bone, Liver, Ovary, Adipocyte

Publications for Lipodystrophy, Congenital Generalized, Type 2

Articles related to Lipodystrophy, Congenital Generalized, Type 2:

(show all 31)
# 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. 6 56
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
Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. 6
18057387 2007
7
The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology. 6
18093937 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
Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome. 61
32440981 2020
16
Changes in redox and endoplasmic reticulum homeostasis are related to congenital generalized lipodystrophy type 2. 61
31917334 2020
17
Seipin-linked congenital generalized lipodystrophy type 2: a rare case with multiple lytic and pseudo-osteopoikilosis lesions. 61
31853371 2019
18
Berardinelli Seip Congenital Lipodystrophy Syndrome: 10 Year Follow-up. 61
31724546 2019
19
Berardinelli-Seip syndrome and progressive myoclonus epilepsy. 61
30767895 2019
20
Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study. 61
28754454 2017
21
Congenital Generalized Lipodystrophy Type 2 in a Patient From a High-Prevalence Area. 61
29264552 2017
22
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. 61
27632409 2016
23
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
24
Control of lipid droplet size in budding yeast requires the collaboration between Fld1 and Ldb16. 61
24434579 2014
25
Seipin differentially regulates lipogenesis and adipogenesis through a conserved core sequence and an evolutionarily acquired C-terminus. 61
23458123 2013
26
Seipin regulates excitatory synaptic transmission in cortical neurons. 61
23173741 2013
27
Altered lipid metabolism in residual white adipose tissues of Bscl2 deficient mice. 61
24358199 2013
28
[BSCL2-related neurologic disorders/seipinopathy: endoplasmic reticulum stress in neurodegeneration]. 61
22277529 2011
29
The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. 61
19574402 2009
30
Seipinopathy: a novel endoplasmic reticulum stress-associated disease. 61
18790819 2009
31
[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 top 50) (show all 69) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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_032667.6(BSCL2):c.412C>T (p.Arg138Ter)SNV Pathogenic 4537 rs137852970 11:62462066-62462066 11:62694594-62694594
8 BSCL2 NM_032667.6:c.438+1G>ASNV Pathogenic 4538
9 BSCL2 NM_032667.6(BSCL2):c.634G>C (p.Ala212Pro)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.652_662del (p.Ala218fs)deletion Pathogenic 424623 rs1064797076 11:62459857-62459867 11:62692385-62692395
16 BSCL2 NM_032667.6(BSCL2):c.750dup (p.Leu251fs)duplication Pathogenic 434545 rs1554983076 11:62458814-62458815 11:62691342-62691343
17 BSCL2 NM_032667.6(BSCL2):c.212+1G>TSNV Pathogenic 549713 rs1565152616 11:62472772-62472772 11:62705300-62705300
18 BSCL2 NM_032667.6(BSCL2):c.210C>G (p.Tyr70Ter)SNV Pathogenic 549716 rs557044760 11:62472775-62472775 11:62705303-62705303
19 BSCL2 NM_032667.6(BSCL2):c.584C>T (p.Thr195Ile)SNV Pathogenic 623294 rs1565144468 11:62459935-62459935 11:62692463-62692463
20 BSCL2 NM_032667.6(BSCL2):c.563_564GA[2] (p.Asn190fs)short repeat Pathogenic 549714 rs1565144681 11:62460140-62460141 11:62692668-62692669
21 BSCL2 NM_032667.6(BSCL2):c.793C>T (p.Arg265Ter)SNV Pathogenic 143858 rs587777606 11:62458772-62458772 11:62691300-62691300
22 BSCL2 NM_032667.6(BSCL2):c.782dup (p.Ile262fs)duplication Pathogenic 372120 rs749890533 11:62458782-62458783 11:62691310-62691311
23 BSCL2 NM_032667.6(BSCL2):c.672-2A>GSNV Pathogenic 372119 rs766061024 11:62458895-62458895 11:62691423-62691423
24 BSCL2 NM_032667.6(BSCL2):c.672-2A>CSNV Pathogenic 372118 rs766061024 11:62458895-62458895 11:62691423-62691423
25 BSCL2 NM_032667.6(BSCL2):c.574-2A>GSNV Pathogenic 372117 rs1013079991 11:62459947-62459947 11:62692475-62692475
26 BSCL2 NM_032667.6(BSCL2):c.193delinsGGA (p.Pro65fs)indel Pathogenic 372116 rs1057517659 11:62472792-62472792 11:62705320-62705320
27 BSCL2 NM_032667.6(BSCL2):c.154_155dup (p.Tyr53fs)duplication Pathogenic 372115 rs1057517658 11:62472829-62472830 11:62705357-62705358
28 BSCL2 NM_032667.6(BSCL2):c.142C>T (p.Leu48Phe)SNV Pathogenic 372114 rs1057517657 11:62472843-62472843 11:62705371-62705371
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.545_546insCCG (p.Glu182delinsAspArg)insertion Likely pathogenic 549715 rs747297291 11:62460162-62460163 11:62692690-62692691
31 BSCL2 NM_032667.6(BSCL2):c.1043-2A>CSNV Likely pathogenic 623295 rs1565142553 11:62457995-62457995 11:62690523-62690523
32 BSCL2 NM_032667.6(BSCL2):c.618C>T (p.Arg206=)SNV Conflicting interpretations of pathogenicity 515141 rs998498207 11:62459901-62459901 11:62692429-62692429
33 BSCL2 NM_032667.6(BSCL2):c.1088T>C (p.Leu363Pro)SNV Conflicting interpretations of pathogenicity 128532 rs145649423 11:62457948-62457948 11:62690476-62690476
34 BSCL2 NM_032667.6(BSCL2):c.553G>A (p.Ala185Thr)SNV Conflicting interpretations of pathogenicity 246574 rs10776 11:62460155-62460155 11:62692683-62692683
35 BSCL2 NM_032667.6(BSCL2):c.256G>A (p.Val86Ile)SNV Conflicting interpretations of pathogenicity 246599 rs149412531 11:62469978-62469978 11:62702506-62702506
36 BSCL2 NM_032667.6(BSCL2):c.396C>T (p.Cys132=)SNV Conflicting interpretations of pathogenicity 220467 rs369806785 11:62462082-62462082 11:62694610-62694610
37 BSCL2 NM_032667.6(BSCL2):c.669C>T (p.Leu223=)SNV Conflicting interpretations of pathogenicity 305176 rs370926100 11:62459850-62459850 11:62692378-62692378
38 BSCL2 NM_032667.6(BSCL2):c.423C>T (p.Ser141=)SNV Conflicting interpretations of pathogenicity 305180 rs140208002 11:62462055-62462055 11:62694583-62694583
39 BSCL2 NM_001122955.3(BSCL2):c.124C>T (p.Arg42Cys)SNV Conflicting interpretations of pathogenicity 305185 rs201493373 11:62473053-62473053 11:62705581-62705581
40 BSCL2 NM_032667.6(BSCL2):c.-194G>TSNV Conflicting interpretations of pathogenicity 305191 rs549450153 11:62473763-62473763 11:62706291-62706291
41 BSCL2 NM_032667.6(BSCL2):c.631G>A (p.Gly211Arg)SNV Conflicting interpretations of pathogenicity 305178 rs151018278 11:62459888-62459888 11:62692416-62692416
42 BSCL2 NM_001122955.3(BSCL2):c.184C>T (p.Leu62Phe)SNV Uncertain significance 305182 rs756907468 11:62472993-62472993 11:62705521-62705521
43 BSCL2 NM_032667.6(BSCL2):c.-140A>CSNV Uncertain significance 305187 rs886048443 11:62473709-62473709 11:62706237-62706237
44 BSCL2 NM_001122955.3(BSCL2):c.131G>A (p.Gly44Asp)SNV Uncertain significance 305184 rs769536524 11:62473046-62473046 11:62705574-62705574
45 BSCL2 NM_032667.6(BSCL2):c.*49T>GSNV Uncertain significance 305172 rs368144792 11:62457790-62457790 11:62690318-62690318
46 BSCL2 NM_032667.6(BSCL2):c.862A>G (p.Ile288Val)SNV Uncertain significance 305174 rs775718358 11:62458565-62458565 11:62691093-62691093
47 BSCL2 NM_032667.6(BSCL2):c.553G>T (p.Ala185Ser)SNV Uncertain significance 305179 rs10776 11:62460155-62460155 11:62692683-62692683
48 BSCL2 NM_032667.6(BSCL2):c.352C>A (p.Pro118Thr)SNV Uncertain significance 305181 rs886048442 11:62462126-62462126 11:62694654-62694654
49 BSCL2 NM_032667.6(BSCL2):c.1042+14T>GSNV Uncertain significance 305173 rs778380128 11:62458070-62458070 11:62690598-62690598
50 BSCL2 NM_032667.6(BSCL2):c.1009G>A (p.Gly337Arg)SNV Uncertain significance 245798 rs138964424 11:62458117-62458117 11:62690645-62690645

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

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.51 PPARG LPIN1 LEP GPAT3 AGPAT2 AGPAT1
2 12.22 PPARG LPIN1 BSCL2 AGPAT2
3
Show member pathways
12.16 LPIN1 GPAT3 AGPAT2 AGPAT1
4
Show member pathways
11.87 GPAT3 AGPAT2 AGPAT1
5
Show member pathways
11.39 GPAT3 AGPAT2 AGPAT1
6
Show member pathways
11.22 LMNA GZMH GZMB
7 11.22 PPARG LPIN1 LMNA LEP BSCL2 AGPAT2
8 11.04 LPIN1 GPAT3 AGPAT2 AGPAT1
9 10.91 FUT6 FUT1
10 10.85 PPARG LEP
11 10.67 PPARG LPIN1 LEP

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 GO:0005783 9.8 LPIN1 GPAT3 CAVIN1 CAV1 BSCL2 AGPAT2
2 Golgi cisterna membrane GO:0032580 9.33 FUT8 FUT6 FUT1
3 endoplasmic reticulum membrane GO:0005789 9.17 TMEM159 LPIN1 GPAT3 CAV1 BSCL2 AGPAT2
4 lipid droplet GO:0005811 9.13 TMEM159 CAV1 BSCL2

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cellular response to insulin stimulus GO:0032869 9.74 PPARG LPIN1 LEP
2 phospholipid biosynthetic process GO:0008654 9.63 GPAT3 AGPAT2 AGPAT1
3 lipid storage GO:0019915 9.61 CAV1 BSCL2
4 regulation of nitric-oxide synthase activity GO:0050999 9.6 LEP CAV1
5 regulation of fat cell differentiation GO:0045598 9.59 PPARG LEP
6 cytolysis GO:0019835 9.58 GZMH GZMB
7 triglyceride biosynthetic process GO:0019432 9.58 LPIN1 GPAT3
8 phosphatidic acid biosynthetic process GO:0006654 9.58 GPAT3 AGPAT2 AGPAT1
9 fatty acid catabolic process GO:0009062 9.56 LPIN1 LEP
10 positive regulation of cold-induced thermogenesis GO:0120162 9.56 LPIN1 LEP CAV1 BSCL2
11 fucosylation GO:0036065 9.55 FUT6 FUT1
12 positive regulation of cytokine-mediated signaling pathway GO:0001961 9.54 AGPAT2 AGPAT1
13 positive regulation of cytokine production GO:0001819 9.54 LEP AGPAT2 AGPAT1
14 regulation of protein localization to nucleus GO:1900180 9.52 LMNA LEP
15 lipid droplet formation GO:0140042 9.51 TMEM159 BSCL2
16 lipid metabolic process GO:0006629 9.5 PPARG LPIN1 LEP GPAT3 BSCL2 AGPAT2
17 regulation of endothelial cell proliferation GO:0001936 9.49 LEP FUT1
18 cellular response to hyperoxia GO:0071455 9.48 PPARG CAV1
19 granzyme-mediated apoptotic signaling pathway GO:0008626 9.43 GZMH GZMB
20 CDP-diacylglycerol biosynthetic process GO:0016024 9.33 GPAT3 AGPAT2 AGPAT1
21 N-glycan fucosylation GO:0036071 9.32 FUT8 FUT6
22 L-fucose catabolic process GO:0042355 8.8 FUT8 FUT6 FUT1

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

# Name GO ID Score Top Affiliating Genes
1 fucosyltransferase activity GO:0008417 8.96 FUT6 FUT1
2 1-acylglycerol-3-phosphate O-acyltransferase activity GO:0003841 8.8 GPAT3 AGPAT2 AGPAT1

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
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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