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

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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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 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:

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: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Lipodystrophy, not elsewhere classified

External Ids:

Disease Ontology ¹² DOID:0111137

OMIM ⁵⁷ 612526 PS608594

MeSH ⁴⁴ D052497

ICD10 ³³ E88.1

MedGen ⁴² C2675861

UMLS ⁷² C2675861

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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.

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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 11)

#	Related Disease	Score	Top Affiliating Genes
1	congenital generalized lipodystrophy	29.8	FOS CAVIN1 CAV1 BSCL2 AGPAT2
2	berardinelli-seip congenital lipodystrophy	10.3	CAV1 BSCL2 AGPAT2
3	lipodystrophy, congenital generalized, type 2	10.3	CAVIN1 BSCL2 AGPAT2
4	mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	10.3	BSCL2 AGPAT2
5	familial partial lipodystrophy	10.2	CAVIN1 BSCL2 AGPAT2
6	complete generalized lipodystrophy	10.2	CAVIN1 CAV1 BSCL2 AGPAT2
7	acquired generalized lipodystrophy	10.1	CAVIN1 CAV1 BSCL2 AGPAT2
8	sjogren-larsson syndrome	10.0	LPIN1 FA2H
9	short-rib thoracic dysplasia 2 with or without polydactyly	9.5	FOSB CEBPB
10	lipodystrophy, congenital generalized, type 4	9.3	SCD5 SCD CEBPA CAVIN1 CAV1 BSCL2
11	t-cell leukemia	9.0	JUND JUN FOSL1 FOS 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:

³² (show all 15)

#	Description	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

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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:

⁴¹

Adipocyte

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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. ⁸ ⁷¹	Kim CA...Magre J	18211975	2008
2	Acquired and inherited lipodystrophies. ⁸	Garg A	15028826	2004
3	Berardinelli-Seip Congenital Lipodystrophy ⁷¹	Van Maldergem L	20301391	2003
4	Caveolin-1-deficient mice are lean, resistant to diet-induced obesity, and show hypertriglyceridemia with adipocyte abnormalities. ⁸	Razani B...Lisanti MP	11739396	2002
5	Region-specific variation in the properties of skeletal adipocytes reveals regulated and constitutive marrow adipose tissues. ³⁸	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 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CAV1	Caveolin 1	Protein Coding	1073.63	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	18211975
2	AGPAT2	1-Acylglycerol-3-Phosphate O-Acyltransferase 2	Protein Coding	16.67	DISEASES inferred ¹⁵
3	BSCL2	BSCL2 Lipid Droplet Biogenesis Associated, Seipin	Protein Coding	15.81	DISEASES inferred ¹⁵
4	FA2H	Fatty Acid 2-Hydroxylase	Protein Coding	15.42	DISEASES inferred ¹⁵
5	CAVIN1	Caveolae Associated Protein 1	Protein Coding	15.42	DISEASES inferred ¹⁵
6	LPIN1	Lipin 1	Protein Coding	15.05	DISEASES inferred ¹⁵
7	SCD	Stearoyl-CoA Desaturase	Protein Coding	14.27	DISEASES inferred ¹⁵
8	CEBPA	CCAAT Enhancer Binding Protein Alpha	Protein Coding	14.01	DISEASES inferred ¹⁵
9	GJA1	Gap Junction Protein Alpha 1	Protein Coding	13.83	DISEASES inferred ¹⁵
10	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	13.23	DISEASES inferred ¹⁵
11	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	13.12	DISEASES inferred ¹⁵
12	LGALSL	Galectin Like	Protein Coding	6.83	DISEASES inferred ¹⁵
13	SCD5	Stearoyl-CoA Desaturase 5	Protein Coding	5.18	DISEASES inferred ¹⁵
14	FOSL2	FOS Like 2, AP-1 Transcription Factor Subunit	Protein Coding	5.02	DISEASES inferred ¹⁵
15	FOSB	FosB Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	4.7	DISEASES inferred ¹⁵
16	FOSL1	FOS Like 1, AP-1 Transcription Factor Subunit	Protein Coding	4.68	DISEASES inferred ¹⁵
17	JUND	JunD Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	4.67	DISEASES inferred ¹⁵
18	CEBPB	CCAAT Enhancer Binding Protein Beta	Protein Coding	4.02	DISEASES inferred ¹⁵
19	CA9	Carbonic Anhydrase 9	Protein Coding	3.78	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	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

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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:

(show all 49)

#	Super pathways	Score	Top Affiliating Genes
1	Toll-like Receptor Signaling Pathway ³⁷ ¹ Show member pathways Chagas disease (American trypanosomiasis) ³⁷ Hepatitis B ³⁷ Hepatitis C ³⁷ NOD-like Receptor Signaling Pathways ⁶⁵ Regulation of toll-like receptor signaling pathway ¹	13.07	JUND JUN FOSL2 FOSL1 FOSB FOS
2	Sertoli-Sertoli Cell Junction Dynamics ⁶⁴ Show member pathways Epithelial Tight Junctions ⁶⁴ Germ Cell-Sertoli Cell Junction Dynamics ⁶⁴	12.95	JUND JUN FOSL2 FOSL1 FOSB FOS
3	TCR Signaling (Qiagen) ⁶⁴ Show member pathways Fc-EpsilonRI Pathway ⁶⁴ ITK and TCR Signaling ⁶⁴ PDGF Pathway ⁶⁴ PKC-Theta Pathway ⁶⁴	12.9	JUND JUN FOSL2 FOSL1 FOSB FOS
4	Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) ⁶⁶ Show member pathways Fatty acid, triacylglycerol, and ketone body metabolism ⁶⁶ PPARA activates gene expression ⁶⁶ Transcriptional regulation of white adipocyte differentiation ⁶⁶	12.89	SCD5 SCD LPIN1 CEBPB CEBPA AGPAT2
5	Common Cytokine Receptor Gamma-Chain Family Signaling Pathways ⁶⁵ Show member pathways Adipokines and Insulin Signaling Pathways ⁶⁵ Development Thrombopoietin-regulated cell processes ²² IL-15 Signaling Pathways ⁶⁵ IL-2 Signaling Pathways ⁶⁵ IL-21 Signaling Pathways ⁶⁵ IL-4 Signaling Pathways ⁶⁵ IL-7 Signaling Pathways ⁶⁵ IL-9 Pathway ⁶⁴ IL-9 Signaling Pathways ⁶⁵ Immune response IL-9 signaling pathway ²²	12.76	JUND JUN FOSL1 FOSB FOS
6	Immune response Role of DAP12 receptors in NK cells ²² Show member pathways Immune response CD16 signaling in NK cells ²² Natural killer cell mediated cytotoxicity ³⁷	12.56	JUND JUN FOSL2 FOSL1 FOSB FOS
7	Glucose / Energy Metabolism ⁴	12.54	SCD LPIN1 CEBPB CEBPA CA9 BSCL2
8	Fatty Acyl-CoA Biosynthesis ⁶⁶ Show member pathways acyl-CoA hydrolysis ¹ fatty acid activation ¹ Fatty acid degradation ³⁷ Fatty acid metabolism ³⁷ stearate biosynthesis ¹ Synthesis of very long-chain fatty acyl-CoAs ⁶⁶ Triglyceride Biosynthesis ⁶⁶	12.42	SCD5 SCD LPIN1 AGPAT2
9	Development VEGF signaling via VEGFR2 - generic cascades ²² Show member pathways Development VEGF signaling and activation ²² VEGF - VEGF R2 Signaling Pathways ⁶⁵	12.42	JUND JUN FOSL1 FOSB FOS
10	WNT Signaling ⁶⁴	12.4	JUN FOSL1 FOS CEBPB
11	Toll Comparative Pathway ⁶⁴ Show member pathways IL-1 Pathway ⁶⁴ Immune response MIF in innate immunity response ²² iNOS Signaling ⁶⁴ TLR-TRIF Pathway ⁶⁴	12.32	JUND JUN FOSL2 FOSL1 FOSB FOS
12	IL-1 Family Signaling Pathways ⁶⁵ Show member pathways Immune response IL-1 signaling pathway ²² Mucin expression in CF via TLRs, EGFR signaling pathways ²²	12.28	JUND JUN FOSL2 FOSL1 FOSB FOS
13	C-type lectin receptor signaling pathway ³⁷ Show member pathways Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁵	12.25	JUND JUN FOSL1 FOSB FOS
14	EGF/EGFR Signaling Pathway ¹	12.22	JUND JUN GJA1 FOSB FOS CAV1
15	IL-17 Family Signaling Pathways ⁶⁵ Show member pathways IL17 signaling pathway ¹ IL-17 signaling pathway ³⁷ Interleukin-17 signaling ⁶⁶ Mucin expression in CF via IL-6, IL-17 signaling pathways ²²	12.13	JUND JUN FOSL2 FOSL1 FOSB FOS
16	TGF-beta Signaling Pathway (WikiPathways) ¹	12.12	JUND JUN FOSB FOS CAV1
17	G-protein signaling Ras family GTPases in kinase cascades (scheme) ²² Show member pathways Activation of the AP-1 family of transcription factors ⁶⁶ Immune response Oncostatin M signaling via MAPK in human cells ²² MAPK Cascade ¹ Oncostatin M Signaling Pathway ¹	12.12	JUND JUN FOSL2 FOSL1 FOSB FOS
18	Th1 Differentiation Pathway ⁶⁵ Show member pathways IL27-mediated signaling events ¹ Th17 Differentiation Pathway ⁶⁵	12.1	JUND JUN FOSL1 FOSB FOS
19	SMAD Signaling Network ⁶⁴	12.1	JUND JUN FOSL2 FOSL1 FOSB FOS
20	Adipogenesis ¹	12.09	SCD LPIN1 CEBPB CEBPA BSCL2 AGPAT2
21	Osteoclast differentiation ³⁷	12.04	JUND JUN FOSL2 FOSL1 FOSB FOS
22	Ceramide Pathway ⁶⁴ Show member pathways TNF-Induced Apoptosis Implicating Sphingolipids ⁶⁴	11.97	JUND JUN FOSL2 FOSL1 FOSB FOS
23	Amphetamine addiction ³⁷ Show member pathways Cocaine addiction ³⁷	11.95	JUN FOSB FOS
24	TGF-beta Signaling Pathways ⁶⁵	11.95	JUND JUN FOSL1 FOSB FOS
25	Cell cycle Cell cycle (generic schema) ²² Show member pathways Cell cycle Regulation of G1/S transition (part 2) ²² G0 and Early G1 ⁶⁶ G2 Phase ⁶⁶	11.94	JUN FOSL1 FOS CEBPB
26	Immune response IL-2 activation and signaling pathway ²² Show member pathways Immune response IL-3 activation and signaling pathway ²²	11.94	JUND JUN FOSL2 FOSL1 FOSB FOS
27	TNF signaling pathway ³⁷	11.93	JUN FOS CEBPB
28	MAP Kinase Signaling ⁴	11.9	JUND JUN FOSL2 FOSL1 FOSB FOS
29	IL-6 signaling pathway ¹ Show member pathways IL6-mediated signaling events ¹	11.8	JUN FOS CEBPB
30	Transcription_P53 signaling pathway ²²	11.76	JUND JUN FOSL2 FOSL1 FOSB FOS
31	Regulation of nuclear SMAD2/3 signaling ¹	11.75	JUN FOS CEBPB
32	Calcineurin-regulated NFAT-dependent transcription in lymphocytes ¹ Show member pathways Calcium signaling in the CD4+ TCR pathway ¹	11.74	JUN FOSL1 FOS
33	Transcription Ligand-dependent activation of the ESR1/SP pathway ²² Show member pathways Development Ligand-dependent activation of the ESR1/AP-1 pathway ²²	11.7	JUN FOS CEBPB
34	HIF-1-alpha transcription factor network ¹	11.67	JUN FOS CA9
35	Downstream signaling in naive CD8+ T cells ¹ Show member pathways Ras signaling in the CD4+ TCR pathway ¹	11.64	JUN FOSL1 FOS
36	Regulation of retinoblastoma protein ¹	11.6	JUN CEBPB CEBPA
37	Corticotropin-releasing hormone signaling pathway ¹	11.6	JUND GJA1 FOSL2 FOSL1 FOSB FOS
38	ATF-2 transcription factor network ¹	11.58	JUND JUN FOS
39	FOXA1 transcription factor network ¹ Show member pathways FOXA transcription factor networks ¹	11.49	JUN FOS CEBPB
40	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²²	11.48	JUN FOSL1 FOS
41	Development_Glucocorticoid receptor signaling ²²	11.43	JUN FOS CEBPB
42	Validated transcriptional targets of AP1 family members Fra1 and Fra2 ¹	11.42	JUND JUN GJA1 FOSL1
43	Immune response_IL-6 signaling pathway ²²	11.4	JUND JUN FOS CEBPB
44	Transcription factor regulation in adipogenesis ¹	11.15	LPIN1 CEBPB CEBPA
45	PDGFR-alpha signaling pathway ¹	11.14	JUN FOS CAV1
46	MIF Action Through Endocytic Pathway ⁶⁴	10.77	JUN FOS
47	Telomere Extension by Telomerase ⁶⁴ Show member pathways XAV939 inhibits tankyrase, stabilizing AXIN ⁶⁶	10.76	JUND JUN FOSL2 FOSL1 FOSB FOS
48	Tacrolimus/Cyclosporine Pathway, Pharmacodynamics ⁶¹	10.74	JUND JUN FOSL2 FOSL1 FOSB FOS
49	oleate biosynthesis ¹	10.45	SCD5 SCD

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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	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

Sources for Lipodystrophy, Congenital Generalized, Type 3

¹ BioSystems

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²⁰ GeneAnalytics

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²³ GeneHancer via GeneCards

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³³ ICD10

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⁴¹ MalaCards

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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:

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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:

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

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

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

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

Sources for Lipodystrophy, Congenital Generalized, Type 3