MCID: CNG012
MIFTS: 42

Congenital Generalized Lipodystrophy malady

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

Aliases & Classifications for Congenital Generalized Lipodystrophy

About this section

Aliases & Descriptions for Congenital Generalized Lipodystrophy:

Name: Congenital Generalized Lipodystrophy 11 24 13
Lipodystrophy, Congenital Generalized 24 25 48
Generalized Lipodystrophy 24 25
Congenital Generalized Lipodystrophy Type 2 66
Berardinelli-Seip Congenital Lipodystrophy 24
Familial Generalized Lipodystrophy 66
 
Berardinelli-Seip Syndrome 24
Beradinelli-Seip Syndrome 11
Total Lipodystrophy 24
Brunzell Syndrome 24
Seip Syndrome 24
Bscl 24

Classifications:



External Ids:

Disease Ontology11 DOID:0050585

Summaries for Congenital Generalized Lipodystrophy

About this section
Genetics Home Reference:24 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 AGPAT2 (1-Acylglycerol-3-Phosphate O-Acyltransferase 2), and among its related pathways are PDGFR-alpha signaling pathway and Adipogenesis. Affiliated tissues include skin, liver and bone, and related mouse phenotypes are digestive/alimentary and adipose tissue.

Wikipedia:69 Congenital generalized lipodystrophy (also known as BerardinelliÔÇôSeip syndrome) is an extremely rare... more...

Related Diseases for Congenital Generalized Lipodystrophy

About this section

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 all 32)
idRelated DiseaseScoreTop Affiliating Genes
1acquired generalized lipodystrophy12.3
2lipodystrophy, congenital generalized, type 111.7
3lipodystrophy, congenital generalized, type 211.7
4lipodystrophy, congenital generalized, type 411.7
5lipodystrophy, congenital generalized, type 311.6
6berardinelli-seip congenital lipodystrophy11.3
7lipodystrophy10.8
8acute hydrops keratoconus10.1AGPAT2, BSCL2
9kleine-levin hibernation syndrome10.0AGPAT2, BSCL2
10myocardial infarction9.8
11insulin-like growth factor i9.8
12dilated cardiomyopathy9.8
13gas gangrene9.8
14hepatitis9.8
15epilepsy9.8
16cervicitis9.8
17long qt syndrome9.8
18myopathy9.8
19progressive myoclonus epilepsy9.8
20amyloidosis9.8
21muscular dystrophy9.8
22myoclonus epilepsy9.8
23cardiomyopathy9.8
24angiomatosis9.8
25myoclonus9.8
26neuropathy, congenital hypomyelinating9.8AGPAT2, BSCL2
27pachyonychia congenita9.7CAV1, LMNA
28biotin-thiamine-responsive basal ganglia disease9.7AGPAT2, BSCL2, CAV1
29mandibuloacral dysplasia9.6AGPAT2, BSCL2, LMNA
30diabetes mellitus, noninsulin-dependent9.5AGPAT2, BSCL2, LMNA
31neuronitis8.7AGPAT2, BSCL2, CAV1, LMNA, PTRF
32tooth agenesis7.4AGPAT2, BSCL2, CAV1, FOS, LMNA, NHLRC1

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



Diseases related to congenital generalized lipodystrophy

Symptoms for Congenital Generalized Lipodystrophy

About this section

UMLS symptoms related to Congenital Generalized Lipodystrophy:


hepatomegaly

Drugs & Therapeutics for Congenital Generalized Lipodystrophy

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1insulinPhase 2, Phase 34401
2
chenodeoxycholic acidPhase 228474-25-910133
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
3
Menthol21842216-51-516666
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

About this section

Genetic tests related to Congenital Generalized Lipodystrophy:

id Genetic test Affiliating Genes
1 Congenital Generalized Lipodystrophy25
2 Generalized Lipodystrophy25

Anatomical Context for Congenital Generalized Lipodystrophy

About this section

MalaCards organs/tissues related to Congenital Generalized Lipodystrophy:

34
Skin, Liver, Bone, Adipocyte, Skeletal muscle

Animal Models for Congenital Generalized Lipodystrophy or affiliated genes

About this section

MGI Mouse Phenotypes related to Congenital Generalized Lipodystrophy:

39 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.8AGPAT2, BSCL2, CAV1, LMNA
2MP:00053758.8AGPAT2, BSCL2, CAV1, LMNA
3MP:00107718.5AGPAT2, BSCL2, CAV1, FOS, LMNA
4MP:00053698.4CAV1, LMNA, NHLRC1, PTRF
5MP:00053978.3AGPAT2, BSCL2, CAV1, FOS, LMNA
6MP:00053708.2AGPAT2, BSCL2, CAV1, LMNA, NHLRC1
7MP:00053678.1AGPAT2, BSCL2, CAV1, LMNA, PTRF
8MP:00053798.1AGPAT2, BSCL2, CAV1, FOS, LMNA
9MP:00107687.7AGPAT2, BSCL2, CAV1, FOS, LMNA, PTRF
10MP:00053847.5BSCL2, CAV1, FOS, LMNA, NHLRC1, PTRF
11MP:00053787.5AGPAT2, BSCL2, CAV1, FOS, LMNA, PTRF
12MP:00053766.7AGPAT2, BSCL2, CAV1, FOS, LMNA, NHLRC1
13MP:00053866.4AGPAT2, BSCL2, CAV1, FOS, LMNA, NHLRC1

Publications for Congenital Generalized Lipodystrophy

About this section

Articles related to Congenital Generalized Lipodystrophy:

(show top 50)    (show all 98)
idTitleAuthorsYear
1
Successful cardiac transplantation in a patient with congenital generalized lipodystrophy. (26821845)
2016
2
Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4. (27167729)
2016
3
Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy. (27189019)
2016
4
Maladaptative autophagy impairs adipose function in Congenital Generalized Lipodystrophy due to cavin-1 deficiency. (27144934)
2016
5
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
6
Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome. (24980513)
2014
7
Bone mineral content in patients with congenital generalized lipodystrophy is unaffected by metreleptin replacement therapy. (25070319)
2014
8
Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood. (23489663)
2013
9
Serous transformation of marrow of distal femoral epiphysis in a patient with congenital general lipodystrophy and spondylarthritis. (23764404)
2013
10
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1. (22902344)
2012
11
Serum retinol binding protein 4 is not decreased in congenital generalized lipodystrophy: a case series. (21779631)
2011
12
Congenital generalized lipodystrophy of Berardinelli-Seip type: a rare case. (21508592)
2011
13
Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy. (20854387)
2010
14
A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4. (20638880)
2010
15
Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations. (19438831)
2009
16
Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy. (19187773)
2009
17
Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). (19376819)
2009
18
Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. (19226263)
2009
19
Lafora disease and congenital generalized lipodystrophy: a case report. (19951852)
2009
20
Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. (18698612)
2008
21
Dilated cardiomyopathy and myocardial infarction secondary to congenital generalized lipodystrophy. (18612489)
2008
22
Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene. (18690553)
2008
23
Computed tomography findings of congenital generalized lipodystrophy: multiple nodular fatty liver and diffuse sclerosis of bones. (18026908)
2007
24
Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. (18057387)
2007
25
Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy. (15629135)
2005
26
Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. (15126564)
2004
27
Genetic basis of congenital generalized lipodystrophy. (14557833)
2004
28
Successful renal transplantation in a patient with congenital generalized lipodystrophy: a case report. (14962001)
2004
29
Proteinuric nephropathy in acquired and congenital generalized lipodystrophy: baseline characteristics and course during recombinant leptin therapy. (15240593)
2004
30
Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. (14602785)
2003
31
Induction of adipocyte differentiation by a thiazolidinedione in cultured, subepidermal, fibroblast-like cells of an infant with congenital generalized lipodystrophy. (11994391)
2002
32
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)
2001
33
A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. (10487716)
1999
34
Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy. (9784493)
1998
35
Severe islet amyloidosis in congenital generalized lipodystrophy. (8720529)
1996
36
Studies of insulin resistance in congenital generalized lipodystrophy. (8783770)
1996
37
Detection of an aberrant fragment in growth hormone gene cluster in a girl with congenital generalized lipodystrophy. (8820990)
1996
38
Postmortem findings in congenital generalized lipodystrophy. (7559900)
1995
39
Clostridial gas gangrene associated with congenital generalized lipodystrophy: report of a case. (7780235)
1994
40
The skeleton in congenital, generalized lipodystrophy: evaluation using whole-body radiographic surveys, magnetic resonance imaging and technetium-99m bone scintigraphy. (1523434)
1992
41
Congenital generalized lipodystrophy with insulin-resistant diabetes. (203464)
1978
42
Decreased binding of insulin to its receptor in patients with congenital generalized lipodystrophy. (831106)
1977
43
Congenital generalized lipodystrophy and experimental lipoatrophic diabetes in rabbits treated successfully with fenfluramine. (577333)
1977
44
Lipoatrophy produced in mice and rabbits by a fraction prepared from the urine from patients with congenital generalized lipodystrophy. (1242274)
1975
45
Studies in congenital generalized lipodystrophy. 3. Growth hormone levels. (4740840)
1973
46
Studies in congenital generalized lipodystrophy (Seip-Berardinelli syndrome). I. Development of diabetes. (4739356)
1973
47
Studies in congenital generalized lipodystrophy. II. The effect of patients' plasma on glycogen synthesis in rat diaphragm and adipose tissue in vivo. (4739357)
1973
48
Congenital generalized lipodystrophy with abnormal growth hormone homeostasis. (4256264)
1971
49
Congenital generalized lipodystrophy. (4318181)
1970
50
Congenital generalized lipodystrophy accompanied by cystic angiomatosis. (5673170)
1968

Variations for Congenital Generalized Lipodystrophy

About this section

Clinvar genetic disease variations for Congenital Generalized Lipodystrophy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_001122955.3(BSCL2): c.509_513delATCGT (p.Tyr170Cysfs)deletionPathogenicrs587777608GRCh38Chr 11, 62694685: 62694689
2NM_032667.6(BSCL2): c.565G> T (p.Glu189Ter)single nucleotide variantPathogenicrs137852975GRCh37Chr 11, 62460143: 62460143

Expression for genes affiliated with Congenital Generalized Lipodystrophy

About this section
Search GEO for disease gene expression data for Congenital Generalized Lipodystrophy.

Pathways for genes affiliated with Congenital Generalized Lipodystrophy

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.4CAV1, FOS
29.1AGPAT2, BSCL2, LMNA
38.9CAV1, LMNA, PTRF

GO Terms for genes affiliated with Congenital Generalized Lipodystrophy

About this section

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

idNameGO IDScoreTop Affiliating Genes
1caveolaGO:00059019.5CAV1, PTRF
2endoplasmic reticulumGO:00057837.8AGPAT2, CAV1, FOS, NHLRC1, PTRF

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

idNameGO IDScoreTop Affiliating Genes
1lipid storageGO:00199159.6BSCL2, CAV1
2response to progesteroneGO:00325709.4CAV1, FOS
3positive regulation of protein ubiquitinationGO:00313989.3CAV1, NHLRC1
4response to mechanical stimulusGO:00096129.2FOS, LMNA

Sources for Congenital Generalized Lipodystrophy

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet