MCID: CNG012
MIFTS: 45

Congenital Generalized Lipodystrophy malady

Categories: Genetic diseases, Skin diseases, Rare diseases, Neuronal diseases, Endocrine diseases, Muscle diseases

Aliases & Classifications for Congenital Generalized Lipodystrophy

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Aliases & Descriptions for Congenital Generalized Lipodystrophy:

Name: Congenital Generalized Lipodystrophy 11 25 13
Lipodystrophy, Congenital Generalized 25 27 50
Generalized Lipodystrophy 25 27
Congenital Generalized Lipodystrophy Type 2 68
Berardinelli-Seip Congenital Lipodystrophy 25
Familial Generalized Lipodystrophy 68
 
Berardinelli-Seip Syndrome 25
Beradinelli-Seip Syndrome 11
Total Lipodystrophy 25
Brunzell Syndrome 25
Seip Syndrome 25
Bscl 25

Classifications:



External Ids:

Disease Ontology11 DOID:0050585

Summaries for Congenital Generalized Lipodystrophy

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Genetics Home Reference:25 Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) is a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems.

MalaCards based summary: Congenital Generalized Lipodystrophy, also known as lipodystrophy, congenital generalized, is related to acquired generalized lipodystrophy and lipodystrophy, congenital generalized, type 1, and has symptoms including hepatomegaly An important gene associated with Congenital Generalized Lipodystrophy is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated), and among its related pathways are Insulin Pathway and Cytoskeletal Signaling. Affiliated tissues include skin, liver and bone, and related mouse phenotypes are limbs/digits/tail and reproductive system.

Wikipedia:71 Congenital generalized lipodystrophy (also known as BerardinelliÔÇôSeip syndrome) is an extremely rare... more...

Related Diseases for Congenital Generalized Lipodystrophy

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Diseases in the Acquired Generalized Lipodystrophy family:

Lipodystrophy, Congenital Generalized, Type 3 Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Congenital Generalized, Type 2 Lipodystrophy, Congenital Generalized, Type 4
congenital generalized lipodystrophy

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

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1acquired generalized lipodystrophy12.3
2lipodystrophy, congenital generalized, type 111.9
3lipodystrophy, congenital generalized, type 411.8
4lipodystrophy, congenital generalized, type 211.8
5lipodystrophy, congenital generalized, type 311.7
6berardinelli-seip congenital lipodystrophy11.1
7lipodystrophy10.7
8neuropathy, congenital hypomyelinating10.3AGPAT2, BSCL2
9restrictive dermopathy, lethal10.1LMNA, ZMPSTE24
10proliferative type fibrocystic change of breast10.1LMNA, ZMPSTE24
11reynolds syndrome10.0LMNA, ZMPSTE24
12hutchinson-gilford progeria10.0LMNA, ZMPSTE24
13pancreatic cystadenoma10.0LMNA, ZMPSTE24
14acute hydrops keratoconus10.0AGPAT2, BSCL2, INS
15kleine-levin hibernation syndrome9.9AGPAT2, BSCL2, ZMPSTE24
16nondystrophic myotonia9.9INS, LEP
17antidepressant type abuse9.9INS, LEP
18scleredema adultorum9.9INS, LEP
19patellofemoral pain syndrome9.9INS, LEP
20dysthymic disorder9.9INS, LEP
21deafness, x-linked 59.8INS, LEP
22alstrom syndrome9.8INS, LEP
23keratoacanthoma9.8INS, LEP
24breast mucoepidermoid carcinoma9.8INS, LEP
25diabetic encephalopathy9.8INS, LEP
26tracheal calcification9.8INS, LEP
27diffuse large b-cell lymphoma9.8INS, LEP
28mucolipidoses9.8INS, LEP
29gestational choriocarcinoma9.8INS, LEP
30short bowel syndrome9.7INS, LEP
31neonatal diabetes mellitus9.7INS, LEP
32chronic myelomonocytic leukemia9.7INS, LEP
33myocardial infarction9.7
34insulin-like growth factor i9.7
35dilated cardiomyopathy9.7
36gas gangrene9.7
37hepatitis9.7
38epilepsy9.7
39cervicitis9.7
40myopathy9.7
41amyloidosis9.7
42muscular dystrophy9.7
43myoclonus epilepsy9.7
44cardiomyopathy9.7
45angiomatosis9.7
46myoclonus9.7
47periampullary adenoma9.7INS, LEP
48alveoli adenoma9.6INS, LEP
49angiomatous meningioma9.6INS, LEP
50precursor b lymphoblastic lymphoma/leukemia9.5INS, LEP

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



Diseases related to congenital generalized lipodystrophy

Symptoms & Phenotypes for Congenital Generalized Lipodystrophy

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UMLS symptoms related to Congenital Generalized Lipodystrophy:


hepatomegaly

MGI Mouse Phenotypes related to Congenital Generalized Lipodystrophy according to GeneCards Suite gene sharing:

41 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.6AGPAT2, LEP, LMNA, ZMPSTE24
2MP:00053898.2BSCL2, CAV1, INS, LEP, LMNA
3MP:00053697.5CAV1, INS, LEP, LMNA, PTRF, ZMPSTE24
4MP:00053907.5AGPAT2, CAV1, INS, LEP, LMNA, ZMPSTE24
5MP:00053797.2AGPAT2, BSCL2, CAV1, INS, LEP, LMNA
6MP:00053707.2AGPAT2, BSCL2, CAV1, INS, LEP, LMNA
7MP:00053847.1BSCL2, CAV1, INS, LEP, LMNA, PTRF
8MP:00107717.1AGPAT2, BSCL2, CAV1, INS, LEP, LMNA
9MP:00053877.1AGPAT2, BSCL2, CAV1, INS, LEP, LMNA
10MP:00053977.0AGPAT2, BSCL2, CAV1, INS, LEP, LMNA
11MP:00053756.8AGPAT2, BSCL2, CAV1, INS, LEP, LMNA
12MP:00053856.8BSCL2, CAV1, INS, LEP, LMNA, PTRF
13MP:00053816.7AGPAT2, BSCL2, CAV1, INS, LEP, LMNA
14MP:00107686.6AGPAT2, BSCL2, CAV1, INS, LEP, LMNA
15MP:00053866.6AGPAT2, BSCL2, CAV1, INS, LEP, LMNA
16MP:00053786.5AGPAT2, BSCL2, CAV1, INS, LEP, LMNA
17MP:00053766.5AGPAT2, BSCL2, CAV1, INS, LEP, LMNA
18MP:00053676.1AGPAT2, BSCL2, CAV1, INS, LEP, LMNA

Drugs & Therapeutics for Congenital Generalized Lipodystrophy

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Drugs for Congenital Generalized Lipodystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Insulin, Globin ZincPhase 2, Phase 34523
2insulinPhase 2, Phase 34524
3
chenodeoxycholic acidapprovedPhase 232474-25-910133
Synonyms:
(+)-chenodeoxycholate
(+)-chenodeoxycholic acid
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oic acid
3a,7a-Dihydroxy-5b,14a,17b-cholanate
3a,7a-Dihydroxy-5b,14a,17b-cholanic acid
3a,7a-Dihydroxy-5b-cholan-24-oate
3a,7a-Dihydroxy-5b-cholan-24-oic acid
3a,7a-Dihydroxy-5b-cholanate
3a,7a-Dihydroxy-5b-cholanic acid
3alpha,7alpha-Dihydroxy-5beta-cholanic acid
7a-Hydroxy-desoxycholsaeure
 
7alpha-Hydroxylithocholic acid
Anthropodeoxycholic acid
Anthropodesoxycholic acid
CDCA
Chenic acid
Chenix
Chenocholic acid
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
4LaxativesPhase 2520
5Gastrointestinal AgentsPhase 28109
6CatharticsPhase 2520
7
Mentholapproved23532216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol

Interventional clinical trials:

idNameStatusNCT IDPhase
1Trial of Leptin Replacement Therapy in Patients With LipodystrophyCompletedNCT00896298Phase 2, Phase 3
2Compassionate Use of Metreleptin in Previously Treated People With Generalized LipodystrophyEnrolling by invitationNCT02262832Phase 3
3Compassionate Use of Metreleptin in Previously Treated People With Partial LipodystrophyEnrolling by invitationNCT02262806Phase 3
4Leptin to Treat LipodystrophyCompletedNCT00025883Phase 2
5Phase 2 Study of Obeticholic Acid for Lipodystrophy PatientsRecruitingNCT02430077Phase 2
6Expanded Access Metreleptin StudyEnrolling by invitationNCT02404896Phase 2
7Identification of a New Gene Involved in Hereditary LipodystrophyCompletedNCT02056912
8Lipodystrophy Connect Patient RegistryRecruitingNCT02577952
9Post Authorisation Safety Registry for US Patients With Generalised Lipodystrophy Treated With MetreleptinNot yet recruitingNCT02325674

Search NIH Clinical Center for Congenital Generalized Lipodystrophy

Genetic Tests for Congenital Generalized Lipodystrophy

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Genetic tests related to Congenital Generalized Lipodystrophy:

id Genetic test Affiliating Genes
1 Congenital Generalized Lipodystrophy27
2 Generalized Lipodystrophy27

Anatomical Context for Congenital Generalized Lipodystrophy

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MalaCards organs/tissues related to Congenital Generalized Lipodystrophy:

36
Skin, Liver, Bone, Adipocyte, Skeletal muscle

Publications for Congenital Generalized Lipodystrophy

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Articles related to Congenital Generalized Lipodystrophy:

(show top 50)    (show all 100)
idTitleAuthorsYear
1
Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy. (27717241)
2016
2
Successful cardiac transplantation in a patient with congenital generalized lipodystrophy. (26821845)
2016
3
Cardiac Manifestations of Congenital Generalized Lipodystrophy. (27766009)
2016
4
Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4. (27167729)
2016
5
Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy. (27189019)
2016
6
Maladaptative autophagy impairs adipose function in Congenital Generalized Lipodystrophy due to cavin-1 deficiency. (27144934)
2016
7
Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy. (26985241)
2016
8
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study from Turkey. (27144933)
2016
9
Clinical and mutational features of three Chinese children with congenital generalized lipodystrophy. (27612026)
2016
10
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. (27632409)
2016
11
Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum. (26072926)
2015
12
Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family. (25721873)
2015
13
Divergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. a clinical, genetic and in silico study. (24498038)
2014
14
Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome. (24980513)
2014
15
Bone mineral content in patients with congenital generalized lipodystrophy is unaffected by metreleptin replacement therapy. (25070319)
2014
16
Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood. (23489663)
2013
17
Serous transformation of marrow of distal femoral epiphysis in a patient with congenital general lipodystrophy and spondylarthritis. (23764404)
2013
18
Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family. (23659685)
2013
19
A mutation in the c-fos gene associated with congenital generalized lipodystrophy. (23919306)
2013
20
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1. (22902344)
2012
21
Pregnancy in a woman with congenital generalized lipodystrophy: leptin's vital role in reproduction. (22270436)
2012
22
Delayed emergence from anesthesia in a child with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). (22272673)
2012
23
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. (23430896)
2012
24
Serum retinol binding protein 4 is not decreased in congenital generalized lipodystrophy: a case series. (21779631)
2011
25
Congenital generalized lipodystrophy of Berardinelli-Seip type: a rare case. (21508592)
2011
26
Pathology of congenital generalized lipodystrophy in Agpat2-/- mice. (21051554)
2011
27
Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy. (20854387)
2010
28
A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4. (20638880)
2010
29
A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene. (21126715)
2010
30
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. (20300641)
2010
31
Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. (20684003)
2010
32
Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations. (19438831)
2009
33
Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy. (19187773)
2009
34
Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). (19376819)
2009
35
Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. (19226263)
2009
36
Lafora disease and congenital generalized lipodystrophy: a case report. (19951852)
2009
37
Congenital generalized lipodystrophy: a case report with neurological involvement]. (19026526)
2009
38
Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. (18698612)
2008
39
Dilated cardiomyopathy and myocardial infarction secondary to congenital generalized lipodystrophy. (18612489)
2008
40
Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene. (18690553)
2008
41
Energy balance in congenital generalized lipodystrophy type I. (18640396)
2008
42
Computed tomography findings of congenital generalized lipodystrophy: multiple nodular fatty liver and diffuse sclerosis of bones. (18026908)
2007
43
Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. (18057387)
2007
44
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)
2006
45
Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy. (15629135)
2005
46
Congenital generalized lipodystrophy: profile of the disease and gender differences in two siblings. (15617555)
2005
47
Case 88: Congenital generalized lipodystrophy. (16244256)
2005
48
Congenital generalized lipodystrophy in a 4 year old Chinese girl. (16269843)
2005
49
Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. (15126564)
2004
50
Genetic basis of congenital generalized lipodystrophy. (14557833)
2004

Variations for Congenital Generalized Lipodystrophy

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Clinvar genetic disease variations for Congenital Generalized Lipodystrophy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1BSCL2NM_001122955.3(BSCL2): c.509_513delATCGT (p.Tyr170Cysfs)deletionPathogenicrs587777608GRCh38Chr 11, 62694685: 62694689

Expression for genes affiliated with Congenital Generalized Lipodystrophy

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Search GEO for disease gene expression data for Congenital Generalized Lipodystrophy.

Pathways for genes affiliated with Congenital Generalized Lipodystrophy

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

idSuper pathwaysScoreTop Affiliating Genes
19.4CAV1, INS
29.1CAV1, LMNA, PTRF
38.6CAV1, INS, LEP
47.3AGPAT2, BSCL2, INS, LEP, LMNA, ZMPSTE24

GO Terms for genes affiliated with Congenital Generalized Lipodystrophy

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

idNameGO IDScoreTop Affiliating Genes
1caveolaGO:00059019.5CAV1, PTRF

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1lipid storageGO:001991510.3BSCL2, CAV1
2negative regulation of lipid catabolic processGO:005099510.3BSCL2, INS
3nuclear envelope organizationGO:000699810.0LMNA, ZMPSTE24
4positive regulation of cytokine productionGO:00018199.9AGPAT2, LEP
5glucose metabolic processGO:00060069.8INS, LEP
6positive regulation of insulin receptor signaling pathwayGO:00466289.7INS, LEP
7positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.5INS, LEP
8positive regulation of gene expressionGO:00106289.5CAV1, INS, LMNA
9regulation of nitric-oxide synthase activityGO:00509999.3CAV1, LEP
10regulation of protein localization to nucleusGO:19001809.2LEP, LMNA

Sources for Congenital Generalized Lipodystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet