CGL2
MCID: LPD033
MIFTS: 42

Lipodystrophy, Congenital Generalized, Type 2 (CGL2)

Categories: Endocrine diseases, Genetic 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 58 13 41
Congenital Generalized Lipodystrophy Type 2 12 54 30 6 15 74
Total Lipodystrophy and Acromegaloid Gigantism 12 54 76
Cgl2 58 12 76
Berardinelli-Seip Congenital Lipodystrophy Type 2 12 76
Brunzell Syndrome Bscl2-Related 12 76
Berardinelli-Seip Syndrome 12 76
Berardinelli Syndrome 58 54
Lipodystrophy, Berardinelli-Seip Congenital, Type 2 58
Berardinelli-Seip Congenital Lipodystrophy, Type 2 58
Berardinelli Seip Congenital Lipodystrophy Type 2 54
Lipodystrophy, Total, and Acromegaloid Gigantism 58
Congenital Generalized Lipodystrophy 2 76
Familial Partial Lipodystrophy, Type 2 74
Familial Generalized Lipodystrophy 74
Lipoatrophic Diabetes, Congenital 58
Brunzell Syndrome, Bscl2-Related 58
Congenital Lipoatrophic Diabetes 12
Bscl2-Related Brunzell Syndrome 54
Lipodystrophy Berardinelli Type 76
Lipoatrophic Diabetes Mellitus 74
Lipoatrophic Diabetes 76
Seip Syndrome 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or early infancy


HPO:

33
lipodystrophy, congenital generalized, type 2:
Onset and clinical course congenital onset
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Lipodystrophy, Congenital Generalized, Type 2

OMIM : 58 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 congenital 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 Glucose / Energy Metabolism and Adipogenesis. Affiliated tissues include bone, liver and ovary, and related phenotypes are mandibular prognathia and macrotia

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 : 76 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 all 38)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, familial partial, type 2 33.4 AGPAT2 LMNA
2 congenital generalized lipodystrophy 31.9 AGPAT2 BSCL2 CAVIN1 LMNA
3 lipodystrophy, congenital generalized, type 1 31.8 AGPAT2 BSCL2 LMNA
4 lipodystrophy, congenital generalized, type 3 31.4 AGPAT2 BSCL2 CAVIN1
5 acquired generalized lipodystrophy 31.0 AGPAT2 BSCL2 CAVIN1 LMNA PPARG
6 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 29.8 AGPAT2 BSCL2 LMNA
7 acanthosis nigricans 29.5 LMNA PPARG
8 aredyld 12.2
9 diabetes mellitus 10.5
10 diabetes mellitus, noninsulin-dependent 10.3
11 hyperglycemia 10.1
12 berardinelli-seip congenital lipodystrophy 10.1 AGPAT2 BSCL2
13 spastic paraplegia 17, autosomal dominant 10.1 AGPAT2 BSCL2
14 pigmentation disease 10.0 AGPAT2 BSCL2
15 childhood type dermatomyositis 10.0
16 ectodermal dysplasia 10.0
17 liver disease 10.0
18 dermatomyositis 10.0
19 rickets 10.0
20 ovarian disease 10.0
21 retinal degeneration 10.0
22 neuropathy 10.0
23 nonalcoholic steatohepatitis 10.0
24 hereditary hypophosphatemic rickets 10.0
25 diabetic polyneuropathy 10.0
26 polyneuropathy 10.0
27 epilepsy 10.0
28 progressive myoclonus epilepsy 10.0
29 achalasia 10.0
30 myoclonus epilepsy 10.0
31 myoclonus 10.0
32 lipodystrophy, familial partial, type 1 9.9 LMNA PPARG
33 papillon-lefevre syndrome 9.8 CTSG GZMB
34 aging 9.6 LMNA PPARG
35 lipodystrophy, congenital generalized, type 4 9.5 AGPAT2 BSCL2 CAVIN1 LMNA
36 lipodystrophy, familial partial, type 3 9.5 AGPAT2 BSCL2 LMNA PPARG
37 complete generalized lipodystrophy 9.3 AGPAT2 BSCL2 CAVIN1 LMNA PPARG
38 familial partial lipodystrophy 9.2 AGPAT2 BSCL2 CAVIN1 LMNA PPARG

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:

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

Symptoms via clinical synopsis from OMIM:

58
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

Skeletal Hands:
large hands

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)
hernias
nearly complete absence of mechanical adipose tissue (joints, orbits, palms, soles)
generalized muscular appearance from birth

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
hepatic steatosis
cirrhosis

Cardiovascular Heart:
hypertrophic cardiomyopathy

Skin Nails Hair Skin:
acanthosis nigricans

Genitourinary Kidneys:
nephrolithiasis

Genitourinary External Genitalia Female:
clitoromegaly
labial hypertrophy

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.56 AGPAT2 BSCL2 LMNA PPARG
2 liver/biliary system MP:0005370 9.55 AGPAT2 BSCL2 CTSG LMNA PPARG
3 mortality/aging MP:0010768 9.43 AGPAT2 BSCL2 CAVIN1 CTSG LMNA PPARG
4 renal/urinary system MP:0005367 9.02 AGPAT2 BSCL2 CAVIN1 LMNA PPARG

Drugs & Therapeutics for Lipodystrophy, Congenital Generalized, Type 2

Search Clinical Trials , 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 30 BSCL2

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 2

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

42
Bone, Liver, Ovary

Publications for Lipodystrophy, Congenital Generalized, Type 2

Articles related to Lipodystrophy, Congenital Generalized, Type 2:

# Title Authors Year
1
Congenital Generalized Lipodystrophy Type 2 in a Patient From a High-Prevalence Area. ( 29264552 )
2017
2
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. ( 27632409 )
2016

Variations for Lipodystrophy, Congenital Generalized, Type 2

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

76
# Symbol AA change Variation ID SNP ID
1 BSCL2 p.Ala212Pro VAR_022377 rs137852971

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

6 (show top 50) (show all 60)
# Gene Variation Type Significance SNP ID Assembly Location
1 BSCL2 NM_032667.6(BSCL2): c.192_193delCCinsGGA (p.Ser64Argfs) indel Pathogenic rs786205068 GRCh38 Chromosome 11, 62705320: 62705321
2 BSCL2 NM_032667.6(BSCL2): c.192_193delCCinsGGA (p.Ser64Argfs) indel Pathogenic rs786205068 GRCh37 Chromosome 11, 62472792: 62472793
3 BSCL2 NM_032667.6(BSCL2): c.301_302insAA (p.Met101Lysfs) insertion Pathogenic rs786205069 GRCh38 Chromosome 11, 62694704: 62694705
4 BSCL2 NM_032667.6(BSCL2): c.301_302insAA (p.Met101Lysfs) insertion Pathogenic rs786205069 GRCh37 Chromosome 11, 62462176: 62462177
5 BSCL2 NM_032667.6(BSCL2): c.315_316delGT (p.Tyr106Serfs) deletion Pathogenic rs786205070 GRCh38 Chromosome 11, 62694690: 62694691
6 BSCL2 NM_032667.6(BSCL2): c.315_316delGT (p.Tyr106Serfs) deletion Pathogenic rs786205070 GRCh37 Chromosome 11, 62462162: 62462163
7 BSCL2 BSCL2, 258-BP DEL/12-BP INS indel Pathogenic
8 BSCL2 NM_032667.6(BSCL2): c.317_321delATCGT (p.Tyr106Cysfs) deletion Pathogenic rs587777608 GRCh38 Chromosome 11, 62694685: 62694689
9 BSCL2 NM_032667.6(BSCL2): c.317_321delATCGT (p.Tyr106Cysfs) deletion Pathogenic rs587777608 GRCh37 Chromosome 11, 62462157: 62462161
10 BSCL2 NM_032667.6(BSCL2): c.325dupA (p.Thr109Asnfs) duplication Pathogenic rs786205071 GRCh38 Chromosome 11, 62694681: 62694681
11 BSCL2 NM_032667.6(BSCL2): c.325dupA (p.Thr109Asnfs) duplication Pathogenic rs786205071 GRCh37 Chromosome 11, 62462153: 62462153
12 BSCL2 NM_032667.6(BSCL2): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs137852970 GRCh37 Chromosome 11, 62462066: 62462066
13 BSCL2 NM_032667.6(BSCL2): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs137852970 GRCh38 Chromosome 11, 62694594: 62694594
14 BSCL2 BSCL2, IVS4, G-A, +1 single nucleotide variant Pathogenic
15 BSCL2 NM_032667.6(BSCL2): c.634G> C (p.Ala212Pro) single nucleotide variant Pathogenic rs137852971 GRCh37 Chromosome 11, 62459885: 62459885
16 BSCL2 NM_032667.6(BSCL2): c.634G> C (p.Ala212Pro) single nucleotide variant Pathogenic rs137852971 GRCh38 Chromosome 11, 62692413: 62692413
17 BSCL2 NM_032667.6(BSCL2): c.636delC (p.Tyr213Thrfs) deletion Pathogenic rs758843908 GRCh38 Chromosome 11, 62692411: 62692411
18 BSCL2 NM_032667.6(BSCL2): c.636delC (p.Tyr213Thrfs) deletion Pathogenic rs758843908 GRCh37 Chromosome 11, 62459883: 62459883
19 BSCL2 NM_032667.6(BSCL2): c.671+5G> A single nucleotide variant Pathogenic rs786205072 GRCh38 Chromosome 11, 62692371: 62692371
20 BSCL2 NM_032667.6(BSCL2): c.671+5G> A single nucleotide variant Pathogenic rs786205072 GRCh37 Chromosome 11, 62459843: 62459843
21 BSCL2 NM_032667.6(BSCL2): c.672-3C> G single nucleotide variant Pathogenic rs786205073 GRCh38 Chromosome 11, 62691424: 62691424
22 BSCL2 NM_032667.6(BSCL2): c.672-3C> G single nucleotide variant Pathogenic rs786205073 GRCh37 Chromosome 11, 62458896: 62458896
23 BSCL2 NM_032667.6(BSCL2): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs137852974 GRCh37 Chromosome 11, 62458604: 62458604
24 BSCL2 NM_032667.6(BSCL2): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs137852974 GRCh38 Chromosome 11, 62691132: 62691132
25 BSCL2 NM_032667.6(BSCL2): c.565G> T (p.Glu189Ter) single nucleotide variant Pathogenic rs137852975 GRCh37 Chromosome 11, 62460143: 62460143
26 BSCL2 NM_032667.6(BSCL2): c.565G> T (p.Glu189Ter) single nucleotide variant Pathogenic rs137852975 GRCh38 Chromosome 11, 62692671: 62692671
27 BSCL2 NM_032667.6(BSCL2): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs587777606 GRCh38 Chromosome 11, 62691300: 62691300
28 BSCL2 NM_032667.6(BSCL2): c.793C> T (p.Arg265Ter) single nucleotide variant Pathogenic rs587777606 GRCh37 Chromosome 11, 62458772: 62458772
29 BSCL2 NM_032667.6(BSCL2): c.814-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs879254029 GRCh38 Chromosome 11, 62691143: 62691143
30 BSCL2 NM_032667.6(BSCL2): c.814-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs879254029 GRCh37 Chromosome 11, 62458615: 62458615
31 BSCL2 NM_032667.6(BSCL2): c.782dup (p.Ile262Hisfs) duplication Pathogenic rs749890533 GRCh38 Chromosome 11, 62691311: 62691311
32 BSCL2 NM_032667.6(BSCL2): c.782dup (p.Ile262Hisfs) duplication Pathogenic rs749890533 GRCh37 Chromosome 11, 62458783: 62458783
33 BSCL2 NM_032667.6(BSCL2): c.672-2A> G single nucleotide variant Pathogenic rs766061024 GRCh38 Chromosome 11, 62691423: 62691423
34 BSCL2 NM_032667.6(BSCL2): c.672-2A> G single nucleotide variant Pathogenic rs766061024 GRCh37 Chromosome 11, 62458895: 62458895
35 BSCL2 NM_032667.6(BSCL2): c.672-2A> C single nucleotide variant Pathogenic rs766061024 GRCh38 Chromosome 11, 62691423: 62691423
36 BSCL2 NM_032667.6(BSCL2): c.672-2A> C single nucleotide variant Pathogenic rs766061024 GRCh37 Chromosome 11, 62458895: 62458895
37 BSCL2 NM_032667.6(BSCL2): c.574-2A> G single nucleotide variant Pathogenic rs1013079991 GRCh38 Chromosome 11, 62692475: 62692475
38 BSCL2 NM_032667.6(BSCL2): c.574-2A> G single nucleotide variant Pathogenic rs1013079991 GRCh37 Chromosome 11, 62459947: 62459947
39 BSCL2 NM_032667.6(BSCL2): c.193delCinsGGA (p.Pro65Glyfs) indel Pathogenic rs1057517659 GRCh38 Chromosome 11, 62705320: 62705320
40 BSCL2 NM_032667.6(BSCL2): c.193delCinsGGA (p.Pro65Glyfs) indel Pathogenic rs1057517659 GRCh37 Chromosome 11, 62472792: 62472792
41 BSCL2 NM_032667.6(BSCL2): c.154_155dup (p.Tyr53Serfs) duplication Pathogenic rs1057517658 GRCh38 Chromosome 11, 62705358: 62705359
42 BSCL2 NM_032667.6(BSCL2): c.154_155dup (p.Tyr53Serfs) duplication Pathogenic rs1057517658 GRCh37 Chromosome 11, 62472830: 62472831
43 BSCL2 NM_032667.6(BSCL2): c.142C> T (p.Leu48Phe) single nucleotide variant Pathogenic rs1057517657 GRCh38 Chromosome 11, 62705371: 62705371
44 BSCL2 NM_032667.6(BSCL2): c.142C> T (p.Leu48Phe) single nucleotide variant Pathogenic rs1057517657 GRCh37 Chromosome 11, 62472843: 62472843
45 BSCL2 NM_032667.6(BSCL2): c.652_662delGCGCACTTCAC (p.Ala218Trpfs) deletion Pathogenic rs1064797076 GRCh38 Chromosome 11, 62692385: 62692395
46 BSCL2 NM_032667.6(BSCL2): c.652_662delGCGCACTTCAC (p.Ala218Trpfs) deletion Pathogenic rs1064797076 GRCh37 Chromosome 11, 62459857: 62459867
47 BSCL2 NM_032667.6(BSCL2): c.750dup (p.Leu251Alafs) duplication Pathogenic rs1554983076 GRCh38 Chromosome 11, 62691343: 62691343
48 BSCL2 NM_032667.6(BSCL2): c.750dup (p.Leu251Alafs) duplication Pathogenic rs1554983076 GRCh37 Chromosome 11, 62458815: 62458815
49 BSCL2 NM_001122955.3(BSCL2): c.759_760delGA (p.Asn254Leufs) deletion Pathogenic GRCh38 Chromosome 11, 62692668: 62692669
50 BSCL2 NM_001122955.3(BSCL2): c.759_760delGA (p.Asn254Leufs) deletion Pathogenic GRCh37 Chromosome 11, 62460140: 62460141

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:

# Super pathways Score Top Affiliating Genes
1 11.62 AGPAT2 BSCL2 PPARG
2 11.04 AGPAT2 BSCL2 LMNA PPARG
3
Show member pathways
10.85 GZMB LMNA

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 secretory granule GO:0030141 8.62 CTSG GZMB

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 8.8 AGPAT2 BSCL2 PPARG

Sources for Lipodystrophy, Congenital Generalized, Type 2

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
46 MESH via Orphanet
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50 NCI
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59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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