CGL3
MCID: LPD020
MIFTS: 43

Lipodystrophy, Congenital Generalized, Type 3 (CGL3)

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

Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 3

MalaCards integrated aliases for Lipodystrophy, Congenital Generalized, Type 3:

Name: Lipodystrophy, Congenital Generalized, Type 3 57 29 13 6 40 72
Congenital Generalized Lipodystrophy Type 3 12 53 15
Berardinelli-Seip Congenital Lipodystrophy Type 3 12 74
Bscl3 57 74
Cgl3 57 74
Berardinelli-Seip Congenital Lipodystrophy, Type 3; Bscl3 57
Lipodystrophy, Berardinelli-Seip Congenital, Type 3 57
Berardinelli-Seip Congenital Lipodystrophy, Type 3 57
Type 3 Berardinelli-Seip Congenital Lipodystrophy 53
Congenital Generalized Lipodystrophy 3 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
one patient born of consanguineous brazilian parents has been reported (last curated march 2019)


HPO:

32
lipodystrophy, congenital generalized, type 3:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111137
MeSH 44 D052497
ICD10 33 E88.1
MedGen 42 C2675861
UMLS 72 C2675861

Summaries for Lipodystrophy, Congenital Generalized, Type 3

OMIM : 57 Congenital generalized lipodystrophy, 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). (612526)

MalaCards based summary : Lipodystrophy, Congenital Generalized, Type 3, also known as congenital generalized lipodystrophy type 3, is related to congenital generalized lipodystrophy and berardinelli-seip congenital lipodystrophy. An important gene associated with Lipodystrophy, Congenital Generalized, Type 3 is CAV1 (Caveolin 1), and among its related pathways/superpathways are Toll-like Receptor Signaling Pathway and Sertoli-Sertoli Cell Junction Dynamics. Affiliated tissues include adipocyte, and related phenotypes are diabetes mellitus and splenomegaly

Disease Ontology : 12 A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of CAV1 on chromosome 7q31.2.

UniProtKB/Swiss-Prot : 74 Congenital generalized lipodystrophy 3: 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 3

Graphical network of the top 20 diseases related to Lipodystrophy, Congenital Generalized, Type 3:



Diseases related to Lipodystrophy, Congenital Generalized, Type 3

Symptoms & Phenotypes for Lipodystrophy, Congenital Generalized, Type 3

Human phenotypes related to Lipodystrophy, Congenital Generalized, Type 3:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 splenomegaly 32 HP:0001744
3 hepatomegaly 32 HP:0002240
4 short stature 32 HP:0004322
5 hypertriglyceridemia 32 HP:0002155
6 acanthosis nigricans 32 HP:0000956
7 primary amenorrhea 32 HP:0000786
8 hepatic steatosis 32 HP:0001397
9 hypocalcemia 32 HP:0002901
10 hypercholesterolemia 32 HP:0003124
11 hepatosplenomegaly 32 HP:0001433
12 insulin resistance 32 HP:0000855
13 hirsutism 32 HP:0001007
14 generalized lipodystrophy 32 HP:0009064
15 reduced subcutaneous adipose tissue 32 HP:0003758

Symptoms via clinical synopsis from OMIM:

57
Metabolic Features:
diabetes mellitus
insulin resistance

Abdomen Liver:
hepatomegaly
hepatic steatosis

Skin Nails Hair:
acanthosis nigricans
prominent peripheral veins in the limbs

Skin Nails Hair Hair:
hirsutism

Growth Height:
poor growth

Abdomen Spleen:
splenomegaly

Laboratory Abnormalities:
hypertriglyceridemia
hypocalcemia
hypercholesterolemia
vitamin d resistance

Endocrine Features:
primary amenorrhea
hyperandrogenism

Muscle Soft Tissue:
muscular appearance
lipodystrophy, generalized
near total absence of subcutaneous and visceral adipose tissue

Head And Neck Face:
facial lipoatrophy

Clinical features from OMIM:

612526

GenomeRNAi Phenotypes related to Lipodystrophy, Congenital Generalized, Type 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.28 CA9 CAV1 CEBPA CEBPB FOSL1 JUN

MGI Mouse Phenotypes related to Lipodystrophy, Congenital Generalized, Type 3:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.37 AGPAT2 BSCL2 CAV1 CAVIN1 CEBPA CEBPB
2 behavior/neurological MP:0005386 10.36 AGPAT2 BSCL2 CAV1 CAVIN1 CEBPA FA2H
3 endocrine/exocrine gland MP:0005379 10.32 AGPAT2 BSCL2 CA9 CAV1 CEBPA CEBPB
4 homeostasis/metabolism MP:0005376 10.3 AGPAT2 BSCL2 CAV1 CAVIN1 CEBPA CEBPB
5 hematopoietic system MP:0005397 10.26 AGPAT2 BSCL2 CA9 CAV1 CEBPA CEBPB
6 cellular MP:0005384 10.22 BSCL2 CAV1 CAVIN1 CEBPA CEBPB FOS
7 adipose tissue MP:0005375 10.21 AGPAT2 BSCL2 CAV1 CEBPA CEBPB FOSL2
8 immune system MP:0005387 10.21 AGPAT2 BSCL2 CA9 CAV1 CEBPA CEBPB
9 cardiovascular system MP:0005385 10.19 BSCL2 CAV1 CAVIN1 CEBPA FOSL1 GJA1
10 mortality/aging MP:0010768 10.17 AGPAT2 BSCL2 CA9 CAV1 CAVIN1 CEBPA
11 integument MP:0010771 10.14 AGPAT2 BSCL2 CAV1 CEBPA CEBPB FA2H
12 liver/biliary system MP:0005370 10.07 AGPAT2 BSCL2 CAV1 CEBPA CEBPB FOSL1
13 muscle MP:0005369 9.8 CAV1 CAVIN1 CEBPA CEBPB GJA1 JUND
14 renal/urinary system MP:0005367 9.7 AGPAT2 BSCL2 CAV1 CAVIN1 CEBPA CEBPB
15 reproductive system MP:0005389 9.61 BSCL2 CAV1 CEBPA CEBPB FOS GJA1
16 skeleton MP:0005390 9.32 AGPAT2 BSCL2 CAV1 CEBPB FOS FOSL1

Drugs & Therapeutics for Lipodystrophy, Congenital Generalized, Type 3

Search Clinical Trials , NIH Clinical Center for Lipodystrophy, Congenital Generalized, Type 3

Genetic Tests for Lipodystrophy, Congenital Generalized, Type 3

Genetic tests related to Lipodystrophy, Congenital Generalized, Type 3:

# Genetic test Affiliating Genes
1 Lipodystrophy, Congenital Generalized, Type 3 29 CAV1

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 3

MalaCards organs/tissues related to Lipodystrophy, Congenital Generalized, Type 3:

41
Adipocyte

Publications for Lipodystrophy, Congenital Generalized, Type 3

Articles related to Lipodystrophy, Congenital Generalized, Type 3:

# Title Authors PMID Year
1
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. 8 71
18211975 2008
2
Acquired and inherited lipodystrophies. 8
15028826 2004
3
Berardinelli-Seip Congenital Lipodystrophy 71
20301391 2003
4
Caveolin-1-deficient mice are lean, resistant to diet-induced obesity, and show hypertriglyceridemia with adipocyte abnormalities. 8
11739396 2002
5
Region-specific variation in the properties of skeletal adipocytes reveals regulated and constitutive marrow adipose tissues. 38
26245716 2015

Variations for Lipodystrophy, Congenital Generalized, Type 3

ClinVar genetic disease variations for Lipodystrophy, Congenital Generalized, Type 3:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CAV1 NM_001753.5(CAV1): c.112G> T (p.Glu38Ter) single nucleotide variant Pathogenic rs121434501 7:116166660-116166660 7:116526606-116526606
2 CAV1 NM_001753.5(CAV1): c.479_480del (p.Leu159_Phe160insTer) deletion Pathogenic rs797044871 7:116199283-116199284 7:116559229-116559230
3 CAV1 NM_001753.5(CAV1): c.424C> T (p.Gln142Ter) single nucleotide variant Pathogenic rs797045176 7:116199228-116199228 7:116559174-116559174

Expression for Lipodystrophy, Congenital Generalized, Type 3

Search GEO for disease gene expression data for Lipodystrophy, Congenital Generalized, Type 3.

Pathways for Lipodystrophy, Congenital Generalized, Type 3

Pathways related to Lipodystrophy, Congenital Generalized, Type 3 according to GeneCards Suite gene sharing:

(show all 49)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.07 JUND JUN FOSL2 FOSL1 FOSB FOS
2
Show member pathways
12.95 JUND JUN FOSL2 FOSL1 FOSB FOS
3
Show member pathways
12.9 JUND JUN FOSL2 FOSL1 FOSB FOS
4
Show member pathways
12.89 SCD5 SCD LPIN1 CEBPB CEBPA AGPAT2
5
Show member pathways
12.76 JUND JUN FOSL1 FOSB FOS
6
Show member pathways
12.56 JUND JUN FOSL2 FOSL1 FOSB FOS
7 12.54 SCD LPIN1 CEBPB CEBPA CA9 BSCL2
8
Show member pathways
12.42 SCD5 SCD LPIN1 AGPAT2
9
Show member pathways
12.42 JUND JUN FOSL1 FOSB FOS
10 12.4 JUN FOSL1 FOS CEBPB
11
Show member pathways
12.32 JUND JUN FOSL2 FOSL1 FOSB FOS
12
Show member pathways
12.28 JUND JUN FOSL2 FOSL1 FOSB FOS
13
Show member pathways
12.25 JUND JUN FOSL1 FOSB FOS
14 12.22 JUND JUN GJA1 FOSB FOS CAV1
15
Show member pathways
12.13 JUND JUN FOSL2 FOSL1 FOSB FOS
16 12.12 JUND JUN FOSB FOS CAV1
17
Show member pathways
12.12 JUND JUN FOSL2 FOSL1 FOSB FOS
18
Show member pathways
12.1 JUND JUN FOSL1 FOSB FOS
19 12.1 JUND JUN FOSL2 FOSL1 FOSB FOS
20 12.09 SCD LPIN1 CEBPB CEBPA BSCL2 AGPAT2
21 12.04 JUND JUN FOSL2 FOSL1 FOSB FOS
22
Show member pathways
11.97 JUND JUN FOSL2 FOSL1 FOSB FOS
23
Show member pathways
11.95 JUN FOSB FOS
24 11.95 JUND JUN FOSL1 FOSB FOS
25
Show member pathways
11.94 JUN FOSL1 FOS CEBPB
26
Show member pathways
11.94 JUND JUN FOSL2 FOSL1 FOSB FOS
27 11.93 JUN FOS CEBPB
28 11.9 JUND JUN FOSL2 FOSL1 FOSB FOS
29
Show member pathways
11.8 JUN FOS CEBPB
30 11.76 JUND JUN FOSL2 FOSL1 FOSB FOS
31 11.75 JUN FOS CEBPB
32
Show member pathways
11.74 JUN FOSL1 FOS
33
Show member pathways
11.7 JUN FOS CEBPB
34 11.67 JUN FOS CA9
35
Show member pathways
11.64 JUN FOSL1 FOS
36 11.6 JUN CEBPB CEBPA
37 11.6 JUND GJA1 FOSL2 FOSL1 FOSB FOS
38 11.58 JUND JUN FOS
39
Show member pathways
11.49 JUN FOS CEBPB
40 11.48 JUN FOSL1 FOS
41 11.43 JUN FOS CEBPB
42 11.42 JUND JUN GJA1 FOSL1
43 11.4 JUND JUN FOS CEBPB
44 11.15 LPIN1 CEBPB CEBPA
45 11.14 JUN FOS CAV1
46 10.77 JUN FOS
47
Show member pathways
10.76 JUND JUN FOSL2 FOSL1 FOSB FOS
48 10.74 JUND JUN FOSL2 FOSL1 FOSB FOS
49 10.45 SCD5 SCD

GO Terms for Lipodystrophy, Congenital Generalized, Type 3

Cellular components related to Lipodystrophy, Congenital Generalized, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.8 GJA1 FOSL1 FOSB FA2H CEBPA CAVIN1
2 endoplasmic reticulum membrane GO:0005789 9.76 SCD5 SCD LPIN1 GJA1 FA2H CAV1
3 transcription factor complex GO:0005667 9.67 JUND JUN FOS CEBPA
4 endoplasmic reticulum GO:0005783 9.65 SCD5 SCD LPIN1 GJA1 FOS FA2H
5 transcription factor AP-1 complex GO:0035976 8.8 JUND JUN FOS
6 nucleoplasm GO:0005654 10 LPIN1 JUND JUN GJA1 FOSL2 FOSL1

Biological processes related to Lipodystrophy, Congenital Generalized, Type 3 according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.99 JUN GJA1 FOSL1 CEBPA CAV1
2 response to lipopolysaccharide GO:0032496 9.89 JUND JUN GJA1 FOS CEBPB
3 fatty acid metabolic process GO:0006631 9.87 SCD5 SCD LPIN1 FA2H
4 transcription by RNA polymerase II GO:0006366 9.87 JUND JUN FOSL1 FOSB FOS CEBPB
5 response to organic cyclic compound GO:0014070 9.86 JUND JUN FOSL1 FOS
6 female pregnancy GO:0007565 9.81 FOSL1 FOSB FOS
7 liver development GO:0001889 9.81 JUN CEBPB CEBPA
8 cellular response to calcium ion GO:0071277 9.81 JUND JUN FOSB FOS
9 fat cell differentiation GO:0045444 9.8 CEBPB CEBPA BSCL2
10 response to drug GO:0042493 9.8 JUND JUN FOSL1 FOSB FOS CA9
11 fatty acid biosynthetic process GO:0006633 9.78 SCD5 SCD FA2H
12 response to cytokine GO:0034097 9.78 JUND JUN FOSL1 FOS
13 cellular response to hormone stimulus GO:0032870 9.73 JUND JUN FOSB FOS
14 response to corticosterone GO:0051412 9.7 FOSL1 FOSB FOS
15 response to progesterone GO:0032570 9.67 FOSL1 FOSB FOS CAV1
16 cellular response to extracellular stimulus GO:0031668 9.65 FOSL1 FOS
17 response to muscle stretch GO:0035994 9.65 JUN FOS
18 unsaturated fatty acid biosynthetic process GO:0006636 9.64 SCD5 SCD
19 fatty-acyl-CoA biosynthetic process GO:0046949 9.63 SCD5 SCD
20 positive regulation of osteoblast differentiation GO:0045669 9.63 JUND CEBPB CEBPA
21 response to gravity GO:0009629 9.61 FOSL1 FOS
22 positive regulation of DNA-templated transcription, initiation GO:2000144 9.58 JUN FOSL1
23 response to mechanical stimulus GO:0009612 9.55 JUND JUN FOSL1 FOSB FOS
24 monounsaturated fatty acid biosynthetic process GO:1903966 9.54 SCD5 SCD
25 response to cAMP GO:0051591 9.35 JUND JUN FOSL1 FOSB FOS
26 positive regulation of cold-induced thermogenesis GO:0120162 9.1 SCD LPIN1 GJA1 CEBPB CAV1 BSCL2
27 regulation of transcription, DNA-templated GO:0006355 10.18 JUND JUN FOSL2 FOSL1 FOSB FOS
28 regulation of transcription by RNA polymerase II GO:0006357 10.16 LPIN1 JUND FOSL2 FOSL1 FOSB FOS
29 negative regulation of transcription by RNA polymerase II GO:0000122 10.08 JUND JUN FOSB CEBPB CEBPA CAV1
30 positive regulation of transcription by RNA polymerase II GO:0045944 10.06 LPIN1 JUND JUN FOSL2 FOSL1 FOSB
31 positive regulation of transcription, DNA-templated GO:0045893 10.05 JUN FOSL2 FOS CEBPB CEBPA
32 lipid metabolic process GO:0006629 10.02 SCD5 SCD LPIN1 FA2H BSCL2 AGPAT2

Molecular functions related to Lipodystrophy, Congenital Generalized, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.91 JUND JUN FOSB FOS CEBPB CEBPA
2 transcription coactivator activity GO:0003713 9.78 LPIN1 JUND JUN CEBPA
3 transcription regulatory region DNA binding GO:0044212 9.65 JUND JUN FOS CEBPB CEBPA
4 transcription factor binding GO:0008134 9.63 JUND JUN FOSB FOS CEBPB CEBPA
5 double-stranded DNA binding GO:0003690 9.62 JUND JUN FOSB FOS
6 DNA-binding transcription factor activity GO:0003700 9.56 JUND JUN FOSL2 FOSL1 FOSB FOS
7 stearoyl-CoA 9-desaturase activity GO:0004768 9.4 SCD5 SCD
8 oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water GO:0016717 9.37 SCD5 SCD
9 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.23 JUND JUN FOSL2 FOSL1 FOSB FOS
10 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.06 JUND JUN FOSL2 FOSL1 FOSB FOS

Sources for Lipodystrophy, Congenital Generalized, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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