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

CGL3 MCID: LPD020 MIFTS: 45	Lipodystrophy, Congenital Generalized, Type 3 (CGL3) Categories: Endocrine diseases, Genetic 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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases Endocrine 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:

OMIM ⁵⁷ 612526

Disease Ontology ¹² DOID:0111137

ICD10 ³³ E88.1

MedGen ⁴² C2675861

MeSH ⁴⁴ D052497

SNOMED-CT via HPO ⁶⁹ 258211005 73211009 48606007 more

UMLS ⁷³ 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). 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.

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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 12)

#	Related Disease	Score	Top Affiliating Genes
1	congenital generalized lipodystrophy	29.8	AGPAT2 BSCL2 CAV1 CAVIN1 FOS
2	mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	10.1	AGPAT2 BSCL2
3	berardinelli-seip congenital lipodystrophy	10.1	AGPAT2 BSCL2 CAV1
4	lipodystrophy, congenital generalized, type 2	10.1	AGPAT2 BSCL2 CAVIN1
5	spastic paraplegia 17, autosomal dominant	10.1	AGPAT2 BSCL2
6	familial partial lipodystrophy	10.1	AGPAT2 BSCL2 CAVIN1
7	complete generalized lipodystrophy	10.0	AGPAT2 BSCL2 CAV1 CAVIN1
8	periosteal osteogenic sarcoma	10.0	FOS JUN
9	acquired generalized lipodystrophy	10.0	AGPAT2 BSCL2 CAV1 CAVIN1
10	lipodystrophy, congenital generalized, type 1	10.0	AGPAT2 BSCL2
11	lipodystrophy, congenital generalized, type 4	9.7	AGPAT2 BSCL2 CAV1 CAVIN1 CEBPA SCD
12	t-cell leukemia	9.5	CAV1 FOS FOSL1 JUN JUND

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

Clinical features from OMIM:

612526

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

³² (show all 12)

#	Description	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

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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

Skin, T Cells

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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

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Genes for Lipodystrophy, Congenital Generalized, Type 3

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

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CAV1	Caveolin 1	Protein Coding	1073.74	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	20301658 18211975
2	AGPAT2	1-Acylglycerol-3-Phosphate O-Acyltransferase 2	Protein Coding	16.7	DISEASES inferred ¹⁵
3	BSCL2	BSCL2, Seipin Lipid Droplet Biogenesis Associated	Protein Coding	15.89	DISEASES inferred ¹⁵
4	CAVIN1	Caveolae Associated Protein 1	Protein Coding	15.46	DISEASES inferred ¹⁵
5	LPIN1	Lipin 1	Protein Coding	15.14	DISEASES inferred ¹⁵
6	SCD	Stearoyl-CoA Desaturase	Protein Coding	14.33	DISEASES inferred ¹⁵
7	CEBPA	CCAAT Enhancer Binding Protein Alpha	Protein Coding	14.13	DISEASES inferred ¹⁵
8	GJA1	Gap Junction Protein Alpha 1	Protein Coding	13.9	DISEASES inferred ¹⁵
9	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	13.3	DISEASES inferred ¹⁵
10	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	13.18	DISEASES inferred ¹⁵
11	LGALSL	Galectin Like	Protein Coding	6.98	DISEASES inferred ¹⁵
12	SCD5	Stearoyl-CoA Desaturase 5	Protein Coding	5.24	DISEASES inferred ¹⁵
13	FOSL2	FOS Like 2, AP-1 Transcription Factor Subunit	Protein Coding	5.1	DISEASES inferred ¹⁵
14	FOSB	FosB Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	4.78	DISEASES inferred ¹⁵
15	FOSL1	FOS Like 1, AP-1 Transcription Factor Subunit	Protein Coding	4.77	DISEASES inferred ¹⁵
16	JUND	JunD Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	4.74	DISEASES inferred ¹⁵
17	CA9	Carbonic Anhydrase 9	Protein Coding	3.88	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	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

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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 45)

#	Super pathways	Score	Top Affiliating Genes
1	Toll-like Receptor Signaling Pathway ³⁷ ¹ Show member pathways Chagas disease (American trypanosomiasis) ³⁷ NOD-like receptor signaling pathway ³⁷ NOD-like Receptor Signaling Pathways ⁶⁵ Regulation of toll-like receptor signaling pathway ¹	12.97	FOS FOSB FOSL1 FOSL2 JUN JUND
2	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴ Hedgehog Signaling in Mammals ⁶⁴ Relaxin Pathway ⁶⁴ Signaling in Gap Junctions ⁶⁴	12.95	CAV1 FOS GJA1 JUN JUND
3	Sertoli-Sertoli Cell Junction Dynamics ⁶⁴ Show member pathways Epithelial Tight Junctions ⁶⁴ Germ Cell-Sertoli Cell Junction Dynamics ⁶⁴	12.93	CEBPA FOS FOSB FOSL1 FOSL2 JUN
4	TCR Signaling (Qiagen) ⁶⁴ Show member pathways Fc-EpsilonRI Pathway ⁶⁴ ITK and TCR Signaling ⁶⁴ PDGF Pathway ⁶⁴ PKC-Theta Pathway ⁶⁴	12.89	FOS FOSB FOSL1 FOSL2 JUN JUND
5	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	12.85	AGPAT2 CEBPA LPIN1 SCD SCD5
6	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	12.74	FOS FOSB FOSL1 JUN JUND
7	Glucose / Energy Metabolism ⁴	12.57	AGPAT2 BSCL2 CA9 CEBPA LPIN1 SCD
8	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	12.54	FOS FOSB FOSL1 FOSL2 JUN JUND
9	Development VEGF signaling via VEGFR2 - generic cascades ²² Show member pathways Development VEGF signaling and activation ²² VEGF - VEGF R2 Signaling Pathways ⁶⁵	12.41	FOS FOSB FOSL1 JUN JUND
10	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	12.33	FOS FOSB FOSL1 FOSL2 JUN JUND
11	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	12.32	FOS FOSB FOSL1 FOSL2 JUN JUND
12	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	12.26	FOS FOSB FOSL1 FOSL2 JUN JUND
13	C-type lectin receptor signaling pathway ³⁷ Show member pathways Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁵	12.25	FOS FOSB FOSL1 JUN JUND
14	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	12.22	FOS FOSB FOSL1 FOSL2 JUN JUND
15	Fatty Acyl-CoA Biosynthesis ⁶⁶ Show member pathways acyl-CoA hydrolysis ¹ fatty acid activation ¹ stearate biosynthesis ¹ Synthesis of very long-chain fatty acyl-CoAs ⁶⁶ Triglyceride Biosynthesis ⁶⁶	12.21	AGPAT2 LPIN1 SCD SCD5
16	EGF/EGFR Signaling Pathway ¹	12.12	CAV1 FOS FOSB GJA1 JUN JUND
17	TGF-beta Signaling Pathway (WikiPathways) ¹	12.11	CAV1 FOS FOSB JUN JUND
18	Adipogenesis ¹	12.09	AGPAT2 BSCL2 CEBPA LPIN1 SCD
19	Th1 Differentiation Pathway ⁶⁵ Show member pathways IL27-mediated signaling events ¹ Th17 Differentiation Pathway ⁶⁵	12.08	FOS FOSB FOSL1 JUN JUND
20	SMAD Signaling Network ⁶⁴	12.04	FOS FOSB FOSL1 FOSL2 JUN JUND
21	Fluid shear stress and atherosclerosis ³⁷	12.01	CAV1 FOS JUN
22	Osteoclast differentiation ³⁷	11.99	FOS FOSB FOSL1 FOSL2 JUN JUND
23	Amphetamine addiction ³⁷ Show member pathways Cocaine addiction ³⁷	11.92	FOS FOSB JUN
24	TGF-beta Signaling Pathways ⁶⁵	11.92	FOS FOSB FOSL1 JUN JUND
25	Ceramide Pathway ⁶⁴ Show member pathways TNF-Induced Apoptosis Implicating Sphingolipids ⁶⁴	11.89	FOS FOSB FOSL1 FOSL2 JUN JUND
26	Immune response IL-2 activation and signaling pathway ²² Show member pathways Immune response IL-3 activation and signaling pathway ²²	11.87	FOS FOSB FOSL1 FOSL2 JUN JUND
27	MAP Kinase Signaling ⁴	11.79	FOS FOSB FOSL1 FOSL2 JUN JUND
28	Calcineurin-regulated NFAT-dependent transcription in lymphocytes ¹ Show member pathways Calcium signaling in the CD4+ TCR pathway ¹	11.73	FOS FOSL1 JUN
29	Transcription_P53 signaling pathway ²²	11.67	FOS FOSB FOSL1 FOSL2 JUN JUND
30	HIF-1-alpha transcription factor network ¹	11.65	CA9 FOS JUN
31	Downstream signaling in naive CD8+ T cells ¹ Show member pathways Ras signaling in the CD4+ TCR pathway ¹	11.62	FOS FOSL1 JUN
32	Corticotropin-releasing hormone signaling pathway ¹	11.6	FOS FOSB FOSL1 FOSL2 GJA1 JUND
33	ATF-2 transcription factor network ¹	11.57	FOS JUN JUND
34	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²²	11.47	FOS FOSL1 JUN
35	Validated transcriptional targets of AP1 family members Fra1 and Fra2 ¹	11.38	FOSL1 GJA1 JUN JUND
36	Immune response_IL-6 signaling pathway ²²	11.32	FOS JUN JUND
37	PDGFR-alpha signaling pathway ¹	11.14	CAV1 FOS JUN
38	Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling ¹	11.08	FOS JUN
39	Estrogen signaling pathway ¹	11.05	FOS JUN
40	MNAR-PELP1 and Estrogen Receptor Interaction ⁶⁴	11.05	FOS JUN
41	Transcription factor regulation in adipogenesis ¹	11.03	CEBPA LPIN1
42	Telomere Extension by Telomerase ⁶⁴ Show member pathways XAV939 inhibits tankyrase, stabilizing AXIN ⁶⁶	10.76	FOS FOSB FOSL1 FOSL2 JUN JUND
43	MIF Action Through Endocytic Pathway ⁶⁴	10.75	FOS JUN
44	Tacrolimus/Cyclosporine Pathway, Pharmacodynamics ⁶¹	10.74	FOS FOSB FOSL1 FOSL2 JUN JUND
45	oleate biosynthesis ¹	10.43	SCD SCD5

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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	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

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Sources for Lipodystrophy, Congenital Generalized, Type 3

¹ BioSystems

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¹⁰ dbSNP

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Lipodystrophy, Congenital Generalized, Type 3 (CGL3)

Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 3

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

Characteristics:

HPO:

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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:

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Symptoms & Phenotypes for Lipodystrophy, Congenital Generalized, Type 3

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

Variations for Lipodystrophy, Congenital Generalized, Type 3

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Expression for Lipodystrophy, Congenital Generalized, Type 3

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

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