CGL3
MCID: LPD020
MIFTS: 38

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 56 29 13 6 39 71
Congenital Generalized Lipodystrophy Type 3 12 52 15
Berardinelli-Seip Congenital Lipodystrophy Type 3 12 73
Bscl3 56 73
Cgl3 56 73
Berardinelli-Seip Congenital Lipodystrophy, Type 3; Bscl3 56
Lipodystrophy, Berardinelli-Seip Congenital, Type 3 56
Berardinelli-Seip Congenital Lipodystrophy, Type 3 56
Type 3 Berardinelli-Seip Congenital Lipodystrophy 52
Congenital Generalized Lipodystrophy 3 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
lipodystrophy, congenital generalized, type 3:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Lipodystrophy, Congenital Generalized, Type 3

OMIM : 56 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 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome and congenital generalized lipodystrophy. An important gene associated with Lipodystrophy, Congenital Generalized, Type 3 is CAV1 (Caveolin 1), and among its related pathways/superpathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Glucose / Energy Metabolism. Affiliated tissues include adipocyte, and related phenotypes are splenomegaly and hepatomegaly

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 : 73 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

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 24)
# Related Disease Score Top Affiliating Genes
1 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 29.4 LPIN1 BSCL2 AGPAT2
2 congenital generalized lipodystrophy 28.7 LPIN1 CAVIN1 CAV1 BSCL2 AGPAT2
3 acquired lipodystrophy 10.1 CAV1 BSCL2
4 adiposis dolorosa 10.1 BSCL2 AGPAT2
5 lipodystrophy, familial partial, type 3 10.1 BSCL2 AGPAT2
6 lipodystrophy, congenital generalized, type 1 10.1 BSCL2 AGPAT2
7 donohue syndrome 10.1 BSCL2 AGPAT2
8 spastic paraplegia 17, autosomal dominant 10.0 BSCL2 AGPAT2
9 umbilical hernia 10.0 BSCL2 AGPAT2
10 autosomal dominant distal hereditary motor neuronopathy 10.0 BSCL2 AGPAT2
11 neuronopathy, distal hereditary motor, type va 9.9 BSCL2 AGPAT2
12 lipodystrophy, familial partial, type 1 9.9 CAVIN1 BSCL2 AGPAT2
13 acquired generalized lipodystrophy 9.9 CAVIN1 BSCL2 AGPAT2
14 pigmentation disease 9.8 CAVIN1 BSCL2 AGPAT2
15 lipodystrophy, familial partial, type 2 9.8 CAVIN1 BSCL2 AGPAT2
16 familial partial lipodystrophy 9.8 BSCL2 AGPAT2
17 glaucoma, normal tension 9.7 CAV2 CAV1
18 lipodystrophy, congenital generalized, type 4 9.6 CAVIN1 CAV1 BSCL2 AGPAT2
19 berardinelli-seip congenital lipodystrophy 9.6 CAVIN1 CAV1 BSCL2 AGPAT2
20 lipodystrophy, familial partial, type 5 9.6 CAVIN1 CAV1 BSCL2 AGPAT2
21 glaucoma, primary open angle 9.4 CAV2 CAV1
22 isolated elevated serum creatine phosphokinase levels 9.3 FIBIN CAV2 CAV1 AGPAT2
23 complete generalized lipodystrophy 9.2 LPIN1 CAVIN1 CAV1 BSCL2 AGPAT2
24 lipodystrophy, congenital generalized, type 2 9.2 LPIN1 CAVIN1 CAV1 BSCL2 AGPAT2

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:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 short stature 31 HP:0004322
4 hypertriglyceridemia 31 HP:0002155
5 primary amenorrhea 31 HP:0000786
6 hepatic steatosis 31 HP:0001397
7 diabetes mellitus 31 HP:0000819
8 hypercholesterolemia 31 HP:0003124
9 hypocalcemia 31 HP:0002901
10 acanthosis nigricans 31 HP:0000956
11 insulin resistance 31 HP:0000855
12 hirsutism 31 HP:0001007
13 hepatosplenomegaly 31 HP:0001433
14 generalized lipodystrophy 31 HP:0009064
15 reduced subcutaneous adipose tissue 31 HP:0003758

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Laboratory Abnormalities:
hypertriglyceridemia
hypercholesterolemia
hypocalcemia
vitamin d resistance

Metabolic Features:
diabetes mellitus
insulin resistance

Skin Nails Hair Hair:
hirsutism

Growth Height:
poor growth

Abdomen Liver:
hepatomegaly
hepatic steatosis

Endocrine Features:
primary amenorrhea
hyperandrogenism

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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.02 AGPAT2 BSCL2 CAV1 CAV2 LPIN1

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:

40
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. 6 56
18211975 2008
2
Acquired and inherited lipodystrophies. 56
15028826 2004
3
Berardinelli-Seip Congenital Lipodystrophy 6
20301391 2003
4
Caveolin-1-deficient mice are lean, resistant to diet-induced obesity, and show hypertriglyceridemia with adipocyte abnormalities. 56
11739396 2002
5
Region-specific variation in the properties of skeletal adipocytes reveals regulated and constitutive marrow adipose tissues. 61
26245716 2015

Variations for Lipodystrophy, Congenital Generalized, Type 3

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

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CAV1 NM_001753.5(CAV1):c.112G>T (p.Glu38Ter)SNV Pathogenic 8467 rs121434501 7:116166660-116166660 7:116526606-116526606
2 CAV1 NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer)deletion Pathogenic 208669 rs797044871 7:116199282-116199283 7:116559228-116559229
3 CAV1 NM_001753.5(CAV1):c.424C>T (p.Gln142Ter)SNV Pathogenic 209106 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

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 membrane GO:0005789 9.65 SCD5 LPIN1 CAV1 BSCL2 AGPAT2
2 membrane raft GO:0045121 9.54 CAVIN1 CAV2 CAV1
3 caveola GO:0005901 9.33 CAVIN1 CAV2 CAV1
4 acrosomal membrane GO:0002080 9.32 CAV2 CAV1
5 endoplasmic reticulum GO:0005783 9.23 SLC27A3 SCD5 LPIN1 FIBIN CAVIN1 CAV1
6 caveolar macromolecular signaling complex GO:0002095 8.96 CAV2 CAV1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 fatty acid metabolic process GO:0006631 9.58 SLC27A3 SCD5 LPIN1
2 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.49 CAV2 CAV1
3 regulation of cytosolic calcium ion concentration GO:0051480 9.48 CAV2 CAV1
4 negative regulation of endothelial cell proliferation GO:0001937 9.46 CAV2 CAV1
5 lipid storage GO:0019915 9.43 CAV1 BSCL2
6 positive regulation of cold-induced thermogenesis GO:0120162 9.43 LPIN1 CAV1 BSCL2
7 basement membrane organization GO:0071711 9.37 CAV2 CAV1
8 lipid metabolic process GO:0006629 9.35 SLC27A3 SCD5 LPIN1 BSCL2 AGPAT2
9 vesicle organization GO:0016050 9.32 CAV2 CAV1
10 caveola assembly GO:0070836 9.16 CAV2 CAV1
11 receptor-mediated endocytosis of virus by host cell GO:0019065 8.62 CAV2 CAV1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding, bridging GO:0030674 8.96 CAV2 CAV1
2 molecular adaptor activity GO:0060090 8.62 CAV2 CAV1

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 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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