CGL3
MCID: LPD020
MIFTS: 45

Lipodystrophy, Congenital Generalized, Type 3 (CGL3)

Categories: Endocrine diseases, Genetic 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 73
Congenital Generalized Lipodystrophy Type 3 12 53 15
Bscl3 57 12 75
Cgl3 57 12 75
Berardinelli-Seip Congenital Lipodystrophy Type 3 12 75
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 75

Characteristics:

HPO:

32
lipodystrophy, congenital generalized, type 3:
Inheritance autosomal recessive inheritance


Classifications:



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). See also partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome (LCCNS; 606721), which is associated with heterozygous mutation in the CAV1 gene. (612526)

MalaCards based summary : Lipodystrophy, Congenital Generalized, Type 3, also known as congenital generalized lipodystrophy type 3, is related to congenital generalized lipodystrophy and mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome. 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 G-Beta Gamma Signaling. Affiliated tissues include skin and t cells, and related phenotypes are diabetes mellitus and short stature

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 : 75 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

Clinical features from OMIM:

612526

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

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 short stature 32 HP:0004322
3 hypertriglyceridemia 32 HP:0002155
4 acanthosis nigricans 32 HP:0000956
5 hepatic steatosis 32 HP:0001397
6 lipodystrophy 32 HP:0009125
7 hypocalcemia 32 HP:0002901
8 hypercholesterolemia 32 HP:0003124
9 insulin resistance 32 HP:0000855
10 hepatosplenomegaly 32 HP:0001433
11 hirsutism 32 HP:0001007
12 reduced subcutaneous adipose tissue 32 HP:0003758

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 9.23 CA9 CAV1 CEBPA FOSL1 JUN JUND

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

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.3 AGPAT2 BSCL2 CAV1 CAVIN1 CEBPA FOS
2 behavior/neurological MP:0005386 10.29 AGPAT2 BSCL2 CAV1 CAVIN1 CEBPA FOS
3 endocrine/exocrine gland MP:0005379 10.22 AGPAT2 BSCL2 CA9 CAV1 CEBPA FOS
4 homeostasis/metabolism MP:0005376 10.18 AGPAT2 BSCL2 CAV1 CAVIN1 CEBPA FOS
5 hematopoietic system MP:0005397 10.17 AGPAT2 BSCL2 CA9 CAV1 CEBPA FOS
6 cardiovascular system MP:0005385 10.15 BSCL2 CAV1 CAVIN1 CEBPA FOSL1 GJA1
7 adipose tissue MP:0005375 10.13 AGPAT2 BSCL2 CAV1 CEBPA FOSL2 JUND
8 immune system MP:0005387 10.11 AGPAT2 BSCL2 CA9 CAV1 CEBPA FOS
9 integument MP:0010771 9.97 AGPAT2 BSCL2 CAV1 CEBPA FOS GJA1
10 mortality/aging MP:0010768 9.97 AGPAT2 BSCL2 CA9 CAV1 CAVIN1 CEBPA
11 liver/biliary system MP:0005370 9.91 AGPAT2 BSCL2 CAV1 CEBPA FOSL1 JUN
12 reproductive system MP:0005389 9.56 BSCL2 CAV1 CEBPA FOS GJA1 JUND
13 skeleton MP:0005390 9.28 AGPAT2 BSCL2 CAV1 FOS FOSL1 FOSL2

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
Skin, T Cells

Publications for Lipodystrophy, Congenital Generalized, Type 3

Articles related to Lipodystrophy, Congenital Generalized, Type 3:

# Title Authors Year
1
Studies in congenital generalized lipodystrophy. 3. Growth hormone levels. ( 4740840 )
1973

Variations for Lipodystrophy, Congenital Generalized, Type 3

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CAV1 NM_001753.4(CAV1): c.112G> T (p.Glu38Ter) single nucleotide variant Pathogenic rs121434501 GRCh37 Chromosome 7, 116166660: 116166660
2 CAV1 NM_001753.4(CAV1): c.112G> T (p.Glu38Ter) single nucleotide variant Pathogenic rs121434501 GRCh38 Chromosome 7, 116526606: 116526606
3 CAV1 NM_001753.4(CAV1): c.479_480delTT (p.Phe160Terfs) deletion Pathogenic rs797044871 GRCh37 Chromosome 7, 116199283: 116199284
4 CAV1 NM_001753.4(CAV1): c.479_480delTT (p.Phe160Terfs) deletion Pathogenic rs797044871 GRCh38 Chromosome 7, 116559229: 116559230
5 CAV1 NM_001753.4(CAV1): c.424C> T (p.Gln142Ter) single nucleotide variant Pathogenic rs797045176 GRCh37 Chromosome 7, 116199228: 116199228
6 CAV1 NM_001753.4(CAV1): c.424C> T (p.Gln142Ter) single nucleotide variant Pathogenic rs797045176 GRCh38 Chromosome 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 45)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 FOS FOSB FOSL1 FOSL2 JUN JUND
2
Show member pathways
12.95 CAV1 FOS GJA1 JUN JUND
3
Show member pathways
12.93 CEBPA FOS FOSB FOSL1 FOSL2 JUN
4
Show member pathways
12.89 FOS FOSB FOSL1 FOSL2 JUN JUND
5
Show member pathways
12.85 AGPAT2 CEBPA LPIN1 SCD SCD5
6
Show member pathways
12.74 FOS FOSB FOSL1 JUN JUND
7 12.57 AGPAT2 BSCL2 CA9 CEBPA LPIN1 SCD
8
Show member pathways
12.54 FOS FOSB FOSL1 FOSL2 JUN JUND
9
Show member pathways
12.41 FOS FOSB FOSL1 JUN JUND
10
Show member pathways
12.33 FOS FOSB FOSL1 FOSL2 JUN JUND
11
Show member pathways
12.32 FOS FOSB FOSL1 FOSL2 JUN JUND
12
Show member pathways
12.26 FOS FOSB FOSL1 FOSL2 JUN JUND
13
Show member pathways
12.25 FOS FOSB FOSL1 JUN JUND
14
Show member pathways
12.22 FOS FOSB FOSL1 FOSL2 JUN JUND
15
Show member pathways
12.21 AGPAT2 LPIN1 SCD SCD5
16 12.12 CAV1 FOS FOSB GJA1 JUN JUND
17 12.11 CAV1 FOS FOSB JUN JUND
18 12.09 AGPAT2 BSCL2 CEBPA LPIN1 SCD
19
Show member pathways
12.08 FOS FOSB FOSL1 JUN JUND
20 12.04 FOS FOSB FOSL1 FOSL2 JUN JUND
21 12.01 CAV1 FOS JUN
22 11.99 FOS FOSB FOSL1 FOSL2 JUN JUND
23
Show member pathways
11.92 FOS FOSB JUN
24 11.92 FOS FOSB FOSL1 JUN JUND
25
Show member pathways
11.89 FOS FOSB FOSL1 FOSL2 JUN JUND
26
Show member pathways
11.87 FOS FOSB FOSL1 FOSL2 JUN JUND
27 11.79 FOS FOSB FOSL1 FOSL2 JUN JUND
28
Show member pathways
11.73 FOS FOSL1 JUN
29 11.67 FOS FOSB FOSL1 FOSL2 JUN JUND
30 11.65 CA9 FOS JUN
31
Show member pathways
11.62 FOS FOSL1 JUN
32 11.6 FOS FOSB FOSL1 FOSL2 GJA1 JUND
33 11.57 FOS JUN JUND
34 11.47 FOS FOSL1 JUN
35 11.38 FOSL1 GJA1 JUN JUND
36 11.32 FOS JUN JUND
37 11.14 CAV1 FOS JUN
38 11.08 FOS JUN
39 11.05 FOS JUN
40 11.05 FOS JUN
41 11.03 CEBPA LPIN1
42
Show member pathways
10.76 FOS FOSB FOSL1 FOSL2 JUN JUND
43 10.75 FOS JUN
44 10.74 FOS FOSB FOSL1 FOSL2 JUN JUND
45 10.43 SCD SCD5

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 nucleoplasm GO:0005654 9.96 CAVIN1 CEBPA FOS FOSB FOSL1 FOSL2
2 endoplasmic reticulum membrane GO:0005789 9.7 AGPAT2 BSCL2 CAV1 GJA1 LPIN1 SCD
3 transcription factor complex GO:0005667 9.62 CEBPA FOS JUN JUND
4 endoplasmic reticulum GO:0005783 9.61 AGPAT2 BSCL2 CAV1 CAVIN1 FOS GJA1
5 transcription factor AP-1 complex GO:0035976 8.8 FOS JUN JUND

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.99 AGPAT2 BSCL2 LPIN1 SCD SCD5
2 transcription by RNA polymerase II GO:0006366 9.98 CEBPA FOS FOSB FOSL1 FOSL2 JUN
3 negative regulation of cell proliferation GO:0008285 9.95 CAV1 CEBPA FOSL1 GJA1 JUN
4 response to lipopolysaccharide GO:0032496 9.84 FOS GJA1 JUN JUND
5 response to organic cyclic compound GO:0014070 9.83 FOS FOSL1 JUN JUND
6 female pregnancy GO:0007565 9.79 FOS FOSB FOSL1
7 cellular response to calcium ion GO:0071277 9.76 FOS FOSB JUN JUND
8 positive regulation of osteoblast differentiation GO:0045669 9.73 CEBPA GJA1 JUND
9 response to cytokine GO:0034097 9.71 FOS FOSL1 JUN JUND
10 response to corticosterone GO:0051412 9.67 FOS FOSB FOSL1
11 cellular response to hormone stimulus GO:0032870 9.67 FOS FOSB JUN JUND
12 positive regulation of cold-induced thermogenesis GO:0120162 9.65 BSCL2 CAV1 GJA1 LPIN1 SCD
13 regulation of DNA-binding transcription factor activity GO:0051090 9.64 FOS JUN
14 lipid storage GO:0019915 9.64 BSCL2 CAV1
15 membrane depolarization GO:0051899 9.63 CAV1 JUN
16 cellular response to extracellular stimulus GO:0031668 9.63 FOS FOSL1
17 response to muscle stretch GO:0035994 9.62 FOS JUN
18 unsaturated fatty acid biosynthetic process GO:0006636 9.62 SCD SCD5
19 response to progesterone GO:0032570 9.62 CAV1 FOS FOSB FOSL1
20 fatty-acyl-CoA biosynthetic process GO:0046949 9.6 SCD SCD5
21 response to gravity GO:0009629 9.58 FOS FOSL1
22 positive regulation of DNA-templated transcription, initiation GO:2000144 9.58 FOSL1 JUN
23 response to mechanical stimulus GO:0009612 9.55 FOS FOSB FOSL1 JUN JUND
24 monounsaturated fatty acid biosynthetic process GO:1903966 9.51 SCD SCD5
25 response to drug GO:0042493 9.5 AGPAT2 CA9 FOS FOSB FOSL1 JUN
26 response to cAMP GO:0051591 9.02 FOS FOSB FOSL1 JUN JUND
27 regulation of transcription, DNA-templated GO:0006355 10.15 CEBPA FOS FOSB FOSL1 FOSL2 JUN
28 regulation of transcription by RNA polymerase II GO:0006357 10.11 CEBPA FOS FOSB FOSL1 FOSL2 JUND
29 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 CEBPA FOS FOSB FOSL1 FOSL2 JUN

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.89 CEBPA FOS FOSB JUN JUND
2 transcription factor binding GO:0008134 9.8 CEBPA FOS FOSB JUN JUND
3 transcription coactivator activity GO:0003713 9.76 CEBPA JUN JUND LPIN1
4 transcription regulatory region DNA binding GO:0044212 9.73 CEBPA FOS JUN JUND
5 DNA-binding transcription factor activity GO:0003700 9.7 CEBPA FOS FOSB FOSL1 FOSL2 JUN
6 double-stranded DNA binding GO:0003690 9.56 FOS FOSB JUN JUND
7 R-SMAD binding GO:0070412 9.51 FOS JUN
8 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.43 CEBPA FOS FOSB FOSL1 JUN JUND
9 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 SCD SCD5
10 stearoyl-CoA 9-desaturase activity GO:0004768 9.32 SCD SCD5
11 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.17 CEBPA FOS FOSB FOSL1 FOSL2 JUN
12 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.02 CEBPA FOS FOSB FOSL1 FOSL2 JUN

Sources for Lipodystrophy, Congenital Generalized, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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