Lipodystrophy, Congenital Generalized, Type 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Skin diseases Endocrine diseases Immune diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Lipodystrophy, not elsewhere classified

External Ids:

Disease Ontology ¹² DOID:0111137

OMIM ⁵⁶ 612526

OMIM Phenotypic Series ⁵⁶ PS608594

MeSH ⁴³ D052497

ICD10 ³² E88.1

MedGen ⁴¹ C2675861

UMLS ⁷¹ C2675861

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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 congenital generalized lipodystrophy and acquired 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 Glycerophospholipid biosynthesis. Affiliated tissues include adipocyte and skin, 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 : 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.

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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 19)

#	Related Disease	Score	Top Affiliating Genes
1	congenital generalized lipodystrophy	27.3	LPIN1 LGALSL GPAT4 GPAT3 CAVIN1 CAV1
2	acquired lipodystrophy	10.1	CAV1 BSCL2
3	lipodystrophy, familial partial, type 4	10.1	CAVIN1 AGPAT2
4	lipodystrophy, familial partial, type 1	10.1	CAVIN1 AGPAT2
5	adiposis dolorosa	10.1	BSCL2 AGPAT2
6	lipodystrophy, familial partial, type 3	10.0	BSCL2 AGPAT2
7	acquired generalized lipodystrophy	10.0	CAVIN1 BSCL2 AGPAT2
8	pigmentation disease	9.9	CAVIN1 BSCL2 AGPAT2
9	lipodystrophy, familial partial, type 2	9.9	CAVIN1 BSCL2 AGPAT2
10	spastic paraplegia 17, autosomal dominant	9.9	BSCL2 AGPAT2
11	familial partial lipodystrophy	9.9	CAVIN1 BSCL2 AGPAT2
12	mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	9.9	LPIN1 BSCL2 AGPAT2
13	donohue syndrome	9.8	BSCL2 AGPAT2
14	berardinelli-seip congenital lipodystrophy	9.8	CAVIN1 CAV1 BSCL2 AGPAT2
15	lipodystrophy, familial partial, type 5	9.8	CAVIN1 CAV1 BSCL2 AGPAT2
16	lipodystrophy, congenital generalized, type 1	9.5	LPIN1 CAVIN1 CAV1 BSCL2 AGPAT2
17	lipodystrophy, congenital generalized, type 4	9.4	GPAT3 CAVIN1 CAV1 BSCL2 AGPAT2
18	lipodystrophy, congenital generalized, type 2	8.9	LPIN1 LGALSL GPAT3 CAVIN1 CAV1 BSCL2
19	complete generalized lipodystrophy	8.2	LPIN1 LGALSL GPAT4 GPAT3 CAVIN1 CAV1

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

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Symptoms & Phenotypes for Lipodystrophy, Congenital Generalized, Type 3

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

³¹ (show all 15)

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

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

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

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	adipose tissue	MP:0005375	9.55	AGPAT2 BSCL2 CAV1 GPAT3 LPIN1
2	endocrine/exocrine gland	MP:0005379	9.43	AGPAT2 BSCL2 CA9 CAV1 GPAT4 LPIN1
3	liver/biliary system	MP:0005370	9.02	AGPAT2 BSCL2 CAV1 GPAT3 LPIN1

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Drugs & Therapeutics for Lipodystrophy, Congenital Generalized, Type 3

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

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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

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Anatomical Context for Lipodystrophy, Congenital Generalized, Type 3

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

⁴⁰

Adipocyte, Skin

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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. ⁵⁶ ⁶	Kim CA...Magre J	18211975	2008
2	Acquired and inherited lipodystrophies. ⁵⁶	Garg A	15028826	2004
3	Berardinelli-Seip Congenital Lipodystrophy ⁶	Van Maldergem L	20301391	2003
4	Caveolin-1-deficient mice are lean, resistant to diet-induced obesity, and show hypertriglyceridemia with adipocyte abnormalities. ⁵⁶	Razani B...Lisanti MP	11739396	2002
5	Region-specific variation in the properties of skeletal adipocytes reveals regulated and constitutive marrow adipose tissues. ⁶¹	Scheller EL...MacDougald OA	26245716	2015

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Genes for Lipodystrophy, Congenital Generalized, Type 3

Genes related to Lipodystrophy, Congenital Generalized, Type 3 (1 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CAV1	Caveolin 1	Protein Coding	1065.29	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ Unconfirmed association ⁵⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	18211975
2	AGPAT2	1-Acylglycerol-3-Phosphate O-Acyltransferase 2	Protein Coding	8.06	DISEASES inferred ¹⁵
3	CAVIN1	Caveolae Associated Protein 1	Protein Coding	8.05	DISEASES inferred ¹⁵
4	BSCL2	BSCL2 Lipid Droplet Biogenesis Associated, Seipin	Protein Coding	7.79	DISEASES inferred ¹⁵
5	LGALSL	Galectin Like	Protein Coding	6.7	DISEASES inferred ¹⁵
6	LPIN1	Lipin 1	Protein Coding	5.59	DISEASES inferred ¹⁵
7	GPAT3	Glycerol-3-Phosphate Acyltransferase 3	Protein Coding	5.55	DISEASES inferred ¹⁵
8	LPCAT4	Lysophosphatidylcholine Acyltransferase 4	Protein Coding	5.01	DISEASES inferred ¹⁵
9	CA9	Carbonic Anhydrase 9	Protein Coding	4.94	DISEASES inferred ¹⁵
10	GPAT4	Glycerol-3-Phosphate Acyltransferase 4	Protein Coding	4.93	DISEASES inferred ¹⁵
11	FIBIN	Fin Bud Initiation Factor Homolog	Protein Coding	4.9	DISEASES inferred ¹⁵

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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.479_480del (p.Leu159_Phe160insTer)	deletion	Pathogenic	208669	rs797044871	7:116199282-116199283	7:116559228-116559229
2	CAV1	NM_001753.5(CAV1):c.424C>T (p.Gln142Ter)	SNV	Pathogenic	209106	rs797045176	7:116199228-116199228	7:116559174-116559174
3	CAV1	NM_001753.5(CAV1):c.112G>T (p.Glu38Ter)	SNV	Pathogenic	8467	rs121434501	7:116166660-116166660	7:116526606-116526606

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Expression for Lipodystrophy, Congenital Generalized, Type 3

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

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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	Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) ⁶⁵ Show member pathways Fatty acid, triacylglycerol, and ketone body metabolism ⁶⁵ PPARA activates gene expression ⁶⁵ Transcriptional regulation of white adipocyte differentiation ⁶⁵	12.54	LPIN1 LPCAT4 GPAT4 GPAT3 AGPAT2
2	Glycerophospholipid biosynthesis ⁶⁵ Show member pathways Acyl chain remodeling of CL ⁶⁵ Acyl chain remodeling of DAG and TAG ⁶⁵ Acyl chain remodelling of PG ⁶⁵ Acyl chain remodelling of PI ⁶⁵ Choline catabolism ⁶⁵ choline degradation ¹ glycerol-3-phosphate shuttle ¹ Glycerophospholipid metabolism ³⁶ Hydrolysis of LPC ⁶⁵ Hydrolysis of LPE ⁶⁵ phosphatidylserine biosynthesis I ¹ phosphatidylserine biosynthesis II ¹ Phospholipid metabolism ⁶⁵ Phosphonate and phosphinate metabolism ³⁶ Synthesis of CL ⁶⁵ Synthesis of PE ⁶⁵ Synthesis of PG ⁶⁵ Synthesis of PI ⁶⁵ Synthesis of PS ⁶⁵	12.45	LPIN1 LPCAT4 GPAT4 GPAT3 AGPAT2
3	Glucose / Energy Metabolism ⁴	12.2	LPIN1 CA9 BSCL2 AGPAT2
4	Fatty Acyl-CoA Biosynthesis ⁶⁵ Show member pathways acyl-CoA hydrolysis ¹ fatty acid activation ¹ Fatty acid degradation ³⁶ Fatty acid metabolism ³⁶ stearate biosynthesis ¹ Synthesis of very long-chain fatty acyl-CoAs ⁶⁵ Triglyceride Biosynthesis ⁶⁵	12.01	LPIN1 LPCAT4 GPAT4 GPAT3 AGPAT2
5	Acyl chain remodelling of PE ⁶⁵ Show member pathways Acyl chain remodelling of PC ⁶⁵ Acyl chain remodelling of PS ⁶⁵ Ether lipid metabolism ³⁶ Synthesis of PA ⁶⁵	11.76	LPCAT4 GPAT4 GPAT3 AGPAT2
6	Adipogenesis ¹	11.73	LPIN1 BSCL2 AGPAT2
7	triacylglycerol biosynthesis ¹ Show member pathways CDP-diacylglycerol biosynthesis ¹ Triacylglyceride Synthesis ¹	11.1	LPCAT4 GPAT4 GPAT3 AGPAT2
8	Glycerolipid metabolism ³⁶	10.71	LPIN1 GPAT4 GPAT3 AGPAT2

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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	9.5	LPIN1 LPCAT4 GPAT4 GPAT3 CAV1 BSCL2
2	endoplasmic reticulum	GO:0005783	9.28	LPIN1 LPCAT4 GPAT4 GPAT3 FIBIN CAVIN1

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	lipid metabolic process	GO:0006629	9.73	LPIN1 LPCAT4 GPAT4 GPAT3 BSCL2 AGPAT2
2	positive regulation of cold-induced thermogenesis	GO:0120162	9.54	LPIN1 CAV1 BSCL2
3	phospholipid metabolic process	GO:0006644	9.51	LPCAT4 AGPAT2
4	triglyceride biosynthetic process	GO:0019432	9.5	LPIN1 GPAT4 GPAT3
5	lactation	GO:0007595	9.49	GPAT4 CAV1
6	triglyceride metabolic process	GO:0006641	9.48	GPAT4 CAV1
7	mammary gland development	GO:0030879	9.46	GPAT4 CAV1
8	phosphatidylcholine biosynthetic process	GO:0006656	9.43	LPIN1 GPAT4
9	lipid storage	GO:0019915	9.4	CAV1 BSCL2
10	CDP-diacylglycerol biosynthetic process	GO:0016024	9.33	GPAT4 GPAT3 AGPAT2
11	phospholipid biosynthetic process	GO:0008654	9.26	LPCAT4 GPAT4 GPAT3 AGPAT2
12	phosphatidic acid biosynthetic process	GO:0006654	8.92	LPCAT4 GPAT4 GPAT3 AGPAT2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	sn-1-glycerol-3-phosphate C16:0-DCA-CoA acyl transferase activity	GO:0102420	9.26	GPAT4 GPAT3
2	transferase activity, transferring acyl groups	GO:0016746	9.26	LPCAT4 GPAT4 GPAT3 AGPAT2
3	glycerol-3-phosphate O-acyltransferase activity	GO:0004366	9.16	GPAT4 GPAT3
4	1-acylglycerol-3-phosphate O-acyltransferase activity	GO:0003841	8.8	GPAT4 GPAT3 AGPAT2

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⁷⁴ Wikipedia

Lipodystrophy, Congenital Generalized, Type 3 (CGL3)

Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 3

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Lipodystrophy, Congenital Generalized, Type 3

Related Diseases for Lipodystrophy, Congenital Generalized, Type 3

Diseases in the Acquired Generalized Lipodystrophy family:

Diseases related to Lipodystrophy, Congenital Generalized, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics for Lipodystrophy, Congenital Generalized, Type 3

Genetic Tests for Lipodystrophy, Congenital Generalized, Type 3

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

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 3

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

Publications for Lipodystrophy, Congenital Generalized, Type 3

Articles related to Lipodystrophy, Congenital Generalized, Type 3:

Genes for Lipodystrophy, Congenital Generalized, Type 3

Genes related to Lipodystrophy, Congenital Generalized, Type 3 (1 elite genes):

Variations for Lipodystrophy, Congenital Generalized, Type 3

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

Expression 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:

GO Terms for Lipodystrophy, Congenital Generalized, Type 3

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

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

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

Sources for Lipodystrophy, Congenital Generalized, Type 3