Congenital Generalized Lipodystrophy malady

Genetics Home Reference: Berardinelli-Seip congenital lipodystrophy is a rare condition characterized by a lack of fatty (adipose) tissue in the body. This lack of adipose tissue means that fats must be stored elsewhere in the body, such as in the liver and muscles. The abnormal handling and storage of fats leads to serious medical problems.¹⁷

MalaCards: Congenital Generalized Lipodystrophy, also known as berardinelli-seip congenital lipodystrophy, is related to familial partial lipodystrophy and distal hereditary motor neuropathy. An important gene associated with Congenital Generalized Lipodystrophy is BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)), and among its related pathways is Granzyme Pathway. The compounds testosterone and n-acetylleucylleucylnorleucinal have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, liver and skin, and related mouse phenotypes are hematopoietic system and adipose tissue.

Wikipedia: Congenital generalized lipodystrophy (also known as Berardinelli–Seip syndrome) is a very rare...⁴⁴ more...

GeneReviews summary for bscl

Aliases & Descriptions:

congenital generalized lipodystrophy 6 15 16 17 berardinelli-seip congenital lipodystrophy 15 16 17 berardinelli-seip congenital generalized lipodystrophy 15 16 lipodystrophy, congenital generalized 17 32 congenital generalized lipodystrophy type 2 43 brunzell syndrome (with bone cysts) 17 familial generalized lipodystrophy 43

generalized lipodystrophy 17 beradinelli-seip syndrome 6 total lipodystrophy 17 lipodystrophy 43 seip syndrome 17 bscl 17

Disease types for congenital generalized lipodystrophy family:

congenital generalized lipodystrophy type 1	congenital generalized lipodystrophy type 2
congenital generalized lipodystrophy type 4	lipodystrophy, congenital generalized, type 3

Diseases related to congenital generalized lipodystrophy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 183)

id	Related Disease	Score	Top Affiliating Genes
1	familial partial lipodystrophy	33.0	LMNA, LEP, INS
2	distal hereditary motor neuropathy	31.2	AGPAT2, GZMH, BSCL2
3	lipodystrophy	30.1	INS, AGPAT2, LEP, GZMH, SREBF2, CAV1
4	neuropathy	29.0	AGPAT2, INS, LMNA, LEP, BSCL2
5	immunodeficiency	28.8	INS, SREBF2, LSL, CAV1, LEP, LMNA
6	lipoatrophic diabetes	28.6	INS, LEP
7	mandibuloacral dysplasia	27.9	BSCL2, LMNA, INS, AGPAT2
8	growth hormone deficiency	27.5	LSL, INS, LEP
9	myopathy	26.7	LEP, BSCL2, LMNA, PTRF, CAV1, INS
10	muscular dystrophy	26.6	LMNA, INS, PTRF, CAV1
11	sleep apnea	26.6	LSL, LEP
12	acanthosis nigricans	26.3	BSCL2, LEP, AGPAT2, LMNA, INS
13	type 2 diabetes mellitus	26.3	LSL, INS, LEP, LMNA
14	polycystic ovary syndrome	26.0	LEP, INS
15	hyperlipidemia	25.9	LSL, SREBF2, SREBF1, INS, LEP
16	nonalcoholic steatohepatitis	25.7	INS, LSL, LEP
17	acromegaly	25.6	LSL, LEP, INS
18	cushing's syndrome	25.6	INS, LSL, LEP
19	obesity	25.4	SREBF2, SREBF1, CAV1, INS, LEP, LSL
20	proteinuria	25.2	LSL, SREBF1, INS, LEP
21	multiple sclerosis	24.9	CAV1, BSCL2, LEP, INS, LSL
22	atherosclerosis	24.8	LMNA, INS, CAV1, SREBF1, LEP, LSL
23	diabetes mellitus	24.7	CAV1, AGPAT2, BSCL2, LMNA, SREBF2, INS
24	apnea	24.5	LEP, INS, LSL, LMNA
25	insulin resistance	24.3	LMNA, LEP, BSCL2, LSL, INS, CAV1
26	hypertension	24.0	LMNA, LEP, INS, CAV1, SREBF2, LSL
27	hypertriglyceridemia	23.8	LSL, CAV1, AGPAT2, BSCL2, LEP, INS
28	hepatitis	23.2	SREBF1, LMNA, BSCL2, INS, AGPAT2, LSL
29	thyroiditis	22.9	SREBF1, LEP, INS, CAV1, LSL, SREBF2
30	bulimia nervosa	12.9	LSL, LEP
31	leptin deficiency	12.9	LSL, LEP
32	premature ejaculation	12.9	LSL, LEP
33	delayed puberty	12.8	LSL, LEP
34	hypothyroidism	12.8	LEP, LSL
35	overnutrition	12.8	LEP, INS
36	rabson-mendenhall syndrome	12.8	LEP, INS
37	fetal macrosomia	12.8	LEP, INS
38	alström syndrome	12.8	LEP, INS
39	acute lymphoblastic leukemia, childhood	12.8	LEP, INS
40	ketoacidosis due to scot deficiency	12.8	LSL, INS
41	laron syndrome	12.8	LSL, INS
42	familial male-limited precocious puberty	12.8	LEP, LSL
43	transsexualism	12.7	LEP, LSL
44	charcot-marie-tooth disease type 2	12.7	LMNA, GZMH
45	anovulation	12.7	INS, LEP
46	eating disorder	12.7	LSL, LEP
47	neuroectodermal endocrine syndrome	12.6	LEP, INS
48	diabetic angiopathy	12.6	INS, LEP
49	high blood pressure	12.6	LEP, INS
50	rickets	12.6	LEP, INS

Approved drugs:

Drug clinical trials:

Genetic tests related to congenital generalized lipodystrophy:

id	Genetic test	Affiliating Genes
1	Congenital Generalized Lipodystrophy clinical/research	BSCL2, AGPAT2

MalaCards organs/tissues related to congenital generalized lipodystrophy:

²²

MGI Mouse Phenotypes related to congenital generalized lipodystrophy:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system phenotype	MP:0005397	9.9	BSCL2, AGPAT2
2	adipose tissue phenotype	MP:0005375	7.6	AGPAT2, CAV1, INS, LEP, LMNA, BSCL2
3	renal/urinary system phenotype	MP:0005367	7.5	AGPAT2, CAV1, INS, LEP, LMNA, BSCL2
4	digestive/alimentary phenotype	MP:0005381	7.5	AGPAT2, CAV1, INS, LEP, LMNA, BSCL2
5	growth/size phenotype	MP:0005378	7.3	AGPAT2, PTRF, INS, LEP, LMNA, BSCL2
6	integument phenotype	MP:0010771	7.1	AGPAT2, SREBF2, CAV1, INS, LEP, LMNA
7	behavior/neurological phenotype	MP:0005386	7.1	AGPAT2, PTRF, CAV1, INS, LEP, LMNA
8	liver/biliary system phenotype	MP:0005370	6.8	BSCL2, AGPAT2, SREBF2, SREBF1, CAV1, INS
9	mortality/aging	MP:0010768	6.5	AGPAT2, SREBF2, SREBF1, CAV1, INS, LEP
10	homeostasis/metabolism phenotype	MP:0005376	6.5	AGPAT2, SREBF2, SREBF1, PTRF, CAV1, INS

Articles related to congenital generalized lipodystrophy:

(show all 26)

id	Title	Authors	Year	Affiliating Genes
1	Fatal cardiac arrhythmia and long-QT syndrome in a ne w form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. (20300641)	Rajab A.... Schuelke M.	2010	PTRF
2	Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. (20684003)	Shastry S.... Garg A.	2010	PTRF
3	Novel mutations of the BSCL2 and AGPAT2 genes in 10 f amilies with Berardinelli-Seip congenital generalized lipodystrophy syndrome. (19226263)	Miranda D.M.... De Marco L.	2009	AGPAT2, BSCL2
4	Congenital generalized lipodystrophy: a case report with neurological involvement (19026526)	Ben Turkia H.... Ben Dridi M.F.	2009	AGPAT2, BSCL2
5	Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. (18698612)	Simha V.... Garg A.	2008	CAV1, AGPAT2, INS
6	Congenital generalized lipodystrophy in an Indian pat ient with a novel mutation in BSCL2 gene. (18690553)	Shirwalkar H.U.... Maitra A.	2008	BSCL2
7	Energy balance in congenital generalized lipodystrophy type I. (18640396)	Taleban S.... Brunzell J.D.	2008	LSL
8	Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. (18057387)	Jin J.... Luo F.	2007	AGPAT2, BSCL2
9	Long-term effects of recombinant human insulin-like growth factor I treatment on glucose and lipid metabolism and the growth of a patient with congenital generalized lipodystrophy. (16902264)	Satoh M.... Yokoya S.	2006	INS
10	Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy. (15629135)	Haque W.... Agarwal A.K.	2005	AGPAT2
11	Congenital generalized lipodystrophy: profile of the disease and gender differences in two siblings. (15617555)	Raygada M.... Rennert O.	2005	INS
12	Congenital generalized lipodystrophy in a 4 year old Chinese girl. (16269843)	Dong G.... Zou C.	2005	INS
13	Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. (15126564)	Ebihara K.... Nakao K.	2004	AGPAT2, BSCL2
14	Genetic basis of congenital generalized lipodystrophy. (14557833)	Agarwal A.K.... Garg A.	2004	AGPAT2, INS, BSCL2
15	Proteinuric nephropathy in acquired and congenital generalized lipodystrophy: baseline characteristics and course during recombinant leptin therapy. (15240593)	Javor E.D.... Gorden P.	2004	LEP, INS
16	Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. (14602785)	Simha V.... Garg A.	2003	AGPAT2, INS, BSCL2
17	Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. (14557463)	Agarwal A.K.... Garg A.	2003	AGPAT2, BSCL2
18	Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways. (12826327)	Agarwal A.K.... Garg A.	2003	BSCL2
19	AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. (11967537)	Agarwal A.K.... Garg A.	2002	AGPAT2, INS
20	A case of congenital generalized lipodystrophy: metabolic effects of four dietary regimens. Lack of association of CGL with polymorphism in the lamin A/C Gene. (11298098)	Kazlauskaite R.... Wajchenberg B.L.	2001	LMNA
21	Congenital generalized lipodystrophy in a 4-month-old infant. (11695279)	Lee I.H.... Chang M.H.	2001	INS
22	Skeletal muscle morphology and exercise response in congenital generalized lipodystrophy. (11023150)	Garg A.... Bertocci L.A.	2000	INS
23	A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. (10487716)	Garg A.... Bowcock A.M.	1999	AGPAT2
24	Severe islet amyloidosis in congenital generalized lipodystrophy. (8720529)	Garg A.... Vuitch F.	1996	INS
25	Studies of insulin resistance in congenital generalized lipodystrophy. (8783770)	SA... Pedersen O.	1996	INS
26	Clostridial gas gangrene associated with congenital generalized lipodystrophy: report of a case. (7780235)	Nakae H.... Kikuchi M.	1994	INS

Genes related to congenital generalized lipodystrophy according to GeneCards:

(show all 11)

id	Symbol	Description	Score	GeneCards Section Context
1	BSCL2	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	11.1	Publications, Summaries
2	AGPAT2	1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)	11.1	Publications, Summaries
3	PTRF	polymerase I and transcript release factor	11.0	Publications
4	GZMH	granzyme H (cathepsin G-like 2, protein h-CCPX)	11.0
5	SREBF1	sterol regulatory element binding transcription factor 1	11.0	Orthologs
6	SREBF2	sterol regulatory element binding transcription factor 2	11.0	Orthologs
7	LSL	Leptin, serum levels of	11.0	Publications
8	CAV1	caveolin 1, caveolae protein, 22kDa	11.0	Publications
9	LMNA	lamin A/C	11.0	Publications
10	INS	insulin	11.0	Publications
11	LEP	leptin	11.0	Publications

Pathways related to congenital generalized lipodystrophy according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Granzyme Pathway36	9.5	LMNA, GZMH

Compounds related to congenital generalized lipodystrophy according to GeneDecks:

(show all 48)

id	Compound	Score	Top Affiliating Genes
1	testosterone32 9 18 9	13.0	SREBF1, LSL
2	n-acetylleucylleucylnorleucinal32	10.0	SREBF1, SREBF2
3	25-hydroxycholesterol32 18	10.8	SREBF2, SREBF1
4	tibolone32	9.7	LEP, LSL
5	squalene32 18	10.7	SREBF2, SREBF1
6	nelfinavir32 34 9 9	12.6	SREBF1, LMNA
7	mevalonate32	9.6	SREBF2, SREBF1, CAV1
8	oleic acid32 9 18 9	12.5	SREBF2, SREBF1, CAV1
9	exenatide32 9 9	11.5	LEP, INS
10	pravastatin32 34 9 18 9	13.5	LSL, SREBF2, LEP
11	pramlintide32 9 9	11.4	LEP, INS
12	sterol32	9.4	SREBF2, SREBF1, CAV1
13	lovastatin32 42 9 9	12.4	LMNA, SREBF1, SREBF2
14	telmisartan32 9 9	11.4	LEP, INS
15	ceramide32	9.3	SREBF2, SREBF1, CAV1
16	cortisone32 18	10.3	LEP, INS
17	fenofibrate32 9 9	11.1	LEP, INS, SREBF2
18	sibutramine32 9 9	11.1	LSL, INS, LEP
19	beta-hydroxybutyrate32	9.1	LEP, INS, LSL
20	acipimox32	9.1	LSL, INS, LEP
21	intralipid32	9.1	LSL, INS, LEP
22	nash32	9.1	LSL, INS, LEP
23	orlistat32 42 9 9	12.1	LEP, INS, LSL
24	acetyl-coa32 18	10.1	AGPAT2, SREBF2, SREBF1
25	dehydroepiandrosterone sulfate32	9.1	LSL, INS, LEP
26	olanzapine32 34 9 18 9	13.1	LEP, INS, LSL
27	metformin32 34 9 9	12.1	LEP, INS, LSL
28	c-peptide32	9.1	LSL, INS, LEP
29	dhea32	9.1	LSL, INS, LEP
30	androstenedione32 18	10.0	LEP, INS, LSL
31	uric acid32 18	10.0	LEP, INS, LSL
32	troglitazone32 42 9 9	12.0	LSL, INS, LEP
33	thyroxine32 18	10.0	LSL, INS, LEP
34	glycerol32 9 18 9	11.8	LEP, INS, LSL
35	gnrh32	8.7	LEP, INS, LSL
36	ly29400232	8.6	SREBF1, CAV1, INS, LEP
37	acth32	8.6	LEP, INS, LSL
38	creatinine32	8.3	LMNA, LEP, INS, LSL
39	wortmannin32 42	9.2	SREBF2, SREBF1, CAV1, INS, LEP
40	phosphatidylinositol32	8.1	LSL, SREBF1, CAV1, INS, LEP
41	triacylglycerol32	8.0	LEP, INS, SREBF1, SREBF2, LSL, AGPAT2
42	rosiglitazone32 9 18 9	11.0	LSL, CAV1, INS, LEP, LMNA
43	alanine32	8.0	LSL, SREBF2, CAV1, INS, LMNA
44	fatty acid32	7.8	LSL, SREBF2, SREBF1, CAV1, INS, LEP
45	serine32	7.6	SREBF1, CAV1, INS, GZMH, LEP, LMNA
46	cholesterol32 9 18 9	10.2	LSL, SREBF2, SREBF1, CAV1, INS, LEP
47	arginine32	7.2	LSL, SREBF2, SREBF1, CAV1, INS, LEP
48	lipid32	6.9	AGPAT2, LSL, SREBF2, SREBF1, CAV1, INS

Cellular components related to congenital generalized lipodystrophy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	endoplasmic reticulum	GO:005783	8.5	CAV1, PTRF, SREBF1, SREBF2, AGPAT2

Biological processes related to congenital generalized lipodystrophy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cellular response to starvation	GO:009267	9.6	CAV1, SREBF1
2	lipid storage	GO:019915	9.6	BSCL2, CAV1
3	negative regulation of lipid catabolic process	GO:050995	9.4	INS, BSCL2
4	positive regulation of cytokine production	GO:001819	9.4	LEP, AGPAT2
5	cholesterol metabolic process	GO:008203	9.3	LEP, SREBF1, SREBF2
6	positive regulation of insulin receptor signaling pathway	GO:046628	9.2	LEP, INS