CGL3
MCID: LPD020
MIFTS: 38

Lipodystrophy, Congenital Generalized, Type 3 (CGL3)

Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 3

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

Name: Lipodystrophy, Congenital Generalized, Type 3 57 12 38 71
Congenital Generalized Lipodystrophy Type 3 11 19 28 5 14
Berardinelli-Seip Congenital Lipodystrophy Type 3 11 73
Bscl3 57 73
Cgl3 57 73
Lipodystrophy, Berardinelli-Seip Congenital, Type 3 57
Berardinelli-Seip Congenital Lipodystrophy, Type 3 57
Type 3 Berardinelli-Seip Congenital Lipodystrophy 19
Congenital Generalized Lipodystrophy 3 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
one patient born of consanguineous brazilian parents has been reported (last curated march 2019)


Classifications:



External Ids:

Disease Ontology 11 DOID:0111137
OMIM® 57 612526
OMIM Phenotypic Series 57 PS608594
MeSH 43 D052497
ICD10 31 E88.1
MedGen 40 C2675861
UMLS 71 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) (Updated 08-Dec-2022)

MalaCards based summary: Lipodystrophy, Congenital Generalized, Type 3, also known as congenital generalized lipodystrophy type 3, is related to congenital generalized lipodystrophy and lipodystrophy, familial partial, type 1. An important gene associated with Lipodystrophy, Congenital Generalized, Type 3 is CAV1 (Caveolin 1), and among its related pathways/superpathways are Cytoskeletal Signaling and Metabolism of nitric oxide: NOS3 activation and regulation. Affiliated tissues include adipocyte, and related phenotypes are diabetes mellitus and splenomegaly

GARD: 19 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).

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

Disease Ontology: 11 A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of CAV1 on chromosome 7q31.2.

Related Diseases for Lipodystrophy, Congenital Generalized, Type 3

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 congenital generalized lipodystrophy 29.7 CAVIN1 CAV1 BSCL2 AGPAT2
2 lipodystrophy, familial partial, type 1 10.1 CAVIN1 AGPAT2
3 lipodystrophy, familial partial, type 4 10.0 CAVIN1 AGPAT2
4 adiposis dolorosa 10.0 BSCL2 AGPAT2
5 lung pleomorphic carcinoma 10.0 CAV2 CAV1
6 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.0 BSCL2 AGPAT2
7 chronic bilirubin encephalopathy 10.0
8 donohue syndrome 10.0 BSCL2 AGPAT2
9 umbilical hernia 10.0 BSCL2 AGPAT2
10 berardinelli-seip congenital lipodystrophy 9.9 CAV1 BSCL2 AGPAT2
11 lipodystrophy, congenital generalized, type 1 9.9 CAVIN1 BSCL2 AGPAT2
12 acquired generalized lipodystrophy 9.9 CAVIN1 BSCL2 AGPAT2
13 glaucoma, normal tension 9.9 CAV2 CAV1
14 lipodystrophy, familial partial, type 3 9.9 CAVIN1 BSCL2 AGPAT2
15 pigmentation disease 9.9 CAVIN1 BSCL2 AGPAT2
16 familial partial lipodystrophy 9.9 BSCL2 AGPAT2
17 rippling muscle disease 2 9.8 FIBIN CAV2 CAV1
18 lipodystrophy, congenital generalized, type 4 9.8 CAVIN1 CAV1 BSCL2 AGPAT2
19 complete generalized lipodystrophy 9.8 CAVIN1 CAV1 BSCL2 AGPAT2
20 lipodystrophy, congenital generalized, type 2 9.7 CAVIN1 CAV1 BSCL2 AGPAT2
21 lipodystrophy, familial partial, type 2 9.7 CAVIN1 CAV1 BSCL2 AGPAT2
22 isolated elevated serum creatine phosphokinase levels 9.7 CAV2 CAV1

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:

30 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 30 HP:0000819
2 splenomegaly 30 HP:0001744
3 hepatomegaly 30 HP:0002240
4 short stature 30 HP:0004322
5 hypertriglyceridemia 30 HP:0002155
6 primary amenorrhea 30 HP:0000786
7 hepatic steatosis 30 HP:0001397
8 hypercholesterolemia 30 HP:0003124
9 hypocalcemia 30 HP:0002901
10 acanthosis nigricans 30 HP:0000956
11 insulin resistance 30 HP:0000855
12 hirsutism 30 HP:0001007
13 hepatosplenomegaly 30 HP:0001433
14 generalized lipodystrophy 30 HP:0009064
15 reduced subcutaneous adipose tissue 30 HP:0003758

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Metabolic Features:
diabetes mellitus
insulin resistance

Abdomen Liver:
hepatomegaly
hepatic steatosis

Endocrine Features:
primary amenorrhea
hyperandrogenism

Skin Nails Hair Hair:
hirsutism

Growth Height:
poor growth

Abdomen Spleen:
splenomegaly

Laboratory Abnormalities:
hypertriglyceridemia
hypercholesterolemia
hypocalcemia
vitamin d resistance

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

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 (Updated 08-Dec-2022)

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 Congenital Generalized Lipodystrophy Type 3 28 CAV1

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 3

Organs/tissues related to Lipodystrophy, Congenital Generalized, Type 3:

MalaCards : Adipocyte

Publications for Lipodystrophy, Congenital Generalized, Type 3

Articles related to Lipodystrophy, Congenital Generalized, Type 3:

(show all 18)
# Title Authors PMID Year
1
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. 57 5
18211975 2008
2
Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. 5
25898808 2015
3
Acquired and inherited lipodystrophies. 57
15028826 2004
4
Caveolin-1-deficient mice are lean, resistant to diet-induced obesity, and show hypertriglyceridemia with adipocyte abnormalities. 57
11739396 2002
5
Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia. 62
34643546 2021
6
Effect of reduced graphene oxide doping on photocatalytic reduction of Cr(VI) and photocatalytic oxidation of tetracycline by ZnAlTi layered double oxides under visible light. 62
31004817 2019
7
Region-specific variation in the properties of skeletal adipocytes reveals regulated and constitutive marrow adipose tissues. 62
26245716 2015
8
Inhibition of Haemonchus contortus larval development by fungal lectins. 62
26283415 2015
9
A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome. 62
26176221 2015
10
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. 62
23430896 2012
11
Ginzburg-Landau equation for dynamical four-wave mixing in gain nonlinear media with relaxation. 62
20365290 2009
12
Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. 62
18698612 2008
13
Structural basis for chitotetraose coordination by CGL3, a novel galectin-related protein from Coprinopsis cinerea. 62
18440554 2008
14
Expression of S100P gene in cervical carcinoma cells is independent of E7 human papillomavirus oncogene. 62
16047742 2005
15
Detection of differentially expressed genes in HeLa x fibroblast hybrids using subtractive suppression hybridization. 62
11389086 2001
16
Transcriptional regulation of the MN/CA 9 gene coding for the tumor-associated carbonic anhydrase IX. Identification and characterization of a proximal silencer element. 62
10551812 1999
17
Conversion of HPV 18 positive non-tumorigenic HeLa-fibroblast hybrids to invasive growth involves loss of TNF-alpha mediated repression of viral transcription and modification of the AP-1 transcription complex. 62
10359524 1999
18
Studies in congenital generalized lipodystrophy. 3. Growth hormone levels. 62
4740840 1973

Variations for Lipodystrophy, Congenital Generalized, Type 3

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CAV1 NM_001753.5(CAV1):c.424C>T (p.Gln142Ter) SNV Pathogenic
209106 rs797045176 GRCh37: 7:116199228-116199228
GRCh38: 7:116559174-116559174
2 CAV1 NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer) DEL Pathogenic
208669 rs797044871 GRCh37: 7:116199282-116199283
GRCh38: 7:116559228-116559229
3 CAV1 NM_001753.5(CAV1):c.112G>T (p.Glu38Ter) SNV Pathogenic
8467 rs121434501 GRCh37: 7:116166660-116166660
GRCh38: 7:116526606-116526606
4 CAV1 NM_001753.5(CAV1):c.30+214A>C SNV Benign
672478 rs1997623 GRCh37: 7:116165360-116165360
GRCh38: 7:116525306-116525306

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:

# Super pathways Score Top Affiliating Genes
1 11.92 CAVIN1 CAV2 CAV1
2
Show member pathways
10.74 NOSIP CAV1
3
Show member pathways
10.5 CAV2 CAV1
4 10.15 CAVIN1 CAV1 BSCL2 AGPAT2

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 endoplasmic reticulum GO:0005783 9.85 SCD5 FIBIN CAVIN1 CAV1 BSCL2 AGPAT2
2 membrane raft GO:0045121 9.8 CAVIN1 CAV2 CAV1
3 acrosomal membrane GO:0002080 9.56 CAV2 CAV1
4 caveola GO:0005901 9.43 CAVIN1 CAV2 CAV1
5 caveolar macromolecular signaling complex GO:0002095 8.92 CAV2 CAV1

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

# Name GO ID Score Top Affiliating Genes
1 regulation of cytosolic calcium ion concentration GO:0051480 9.76 CAV2 CAV1
2 negative regulation of endothelial cell proliferation GO:0001937 9.73 CAV2 CAV1
3 lipid storage GO:0019915 9.71 CAV1 BSCL2
4 endothelial cell proliferation GO:0001935 9.67 CAV2 CAV1
5 basement membrane organization GO:0071711 9.62 CAV2 CAV1
6 vesicle organization GO:0016050 9.56 CAV2 CAV1
7 negative regulation of nitric-oxide synthase activity GO:0051001 9.46 NOSIP CAV1
8 receptor-mediated endocytosis of virus by host cell GO:0019065 9.26 CAV2 CAV1
9 caveola assembly GO:0070836 8.92 CAV2 CAV1

Sources for Lipodystrophy, Congenital Generalized, Type 3

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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