MCID: FML012
MIFTS: 50

Familial Partial Lipodystrophy malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Fetal diseases, Metabolic diseases, Cardiovascular diseases

Aliases & Classifications for Familial Partial Lipodystrophy

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Aliases & Descriptions for Familial Partial Lipodystrophy:

Name: Familial Partial Lipodystrophy 11 46 24 13 66
Lipodystrophy, Familial Partial 24 25 48 37
Familial Partial Lipodystrophy, Type 2 66
Dunnigan-Kobberling Syndrome 24
Kobberling-Dunnigan Syndrome 24
 
Koberling-Dunnigan Syndrome 11
Dunnigan Syndrome 11
Fpld 46
Fpl 24

Classifications:



External Ids:

Disease Ontology11 DOID:0050440
MeSH37 D052496
SNOMED-CT60 49292002
NCIt43 C84708
UMLS66 C0271694, C1720859, C1720860 C1720861, more

Summaries for Familial Partial Lipodystrophy

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Genetics Home Reference:24 Familial partial lipodystrophy is a rare condition characterized by an abnormal distribution of fatty (adipose) tissue. Adipose tissue is normally found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat as a source of energy and also provides cushioning. In people with familial partial lipodystrophy, adipose tissue is lost from the arms, legs, and hips, giving these parts of the body a very muscular appearance. The fat that cannot be stored in the limbs builds up around the face and neck, and inside the abdomen. Excess fat in these areas gives individuals an appearance described as "cushingoid," because it resembles the physical features associated with a hormonal disorder called Cushing disease. This abnormal fat distribution can begin anytime from childhood to adulthood.

MalaCards based summary: Familial Partial Lipodystrophy, also known as lipodystrophy, familial partial, is related to lipodystrophy, familial partial, 2 and mandibuloacral dysplasia, and has symptoms including hepatomegaly and myalgia. An important gene associated with Familial Partial Lipodystrophy is LMNA (Lamin A/C), and among its related pathways are Signaling events mediated by PTP1B and Development_Leptin signaling via PI3K-dependent pathway. Affiliated tissues include skin, ovary and breast, and related mouse phenotypes are integument and adipose tissue.

Disease Ontology:11 A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.

Wikipedia:69 Familial partial lipodystrophy (also known as \"Köbberling–Dunnigan syndrome\") is an autosomal... more...

Related Diseases for Familial Partial Lipodystrophy

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Diseases in the Familial Partial Lipodystrophy family:

Lipodystrophy, Familial Partial, 2 Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Familial Partial, Type 3 Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Partial, Acquired Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Familial Partial, Type 1 Akt2-Related Familial Partial Lipodystrophy

Diseases related to Familial Partial Lipodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1lipodystrophy, familial partial, 233.3LEP, LMNA
2mandibuloacral dysplasia29.8BANF1, LMNA
3obesity28.6LEP, PLIN1, PPARG, SREBF1
4akt2-related familial partial lipodystrophy12.1
5lipodystrophy, familial partial, type 111.7
6lipodystrophy, familial partial, type 411.6
7lipodystrophy, familial partial, type 311.5
8lipodystrophy, familial partial, type 511.3
9lipodystrophy, familial partial, type 611.1
10lipodystrophy10.8
11linear scleroderma10.4EMD, LMNA
12emery-dreifuss muscular dystrophy 2, ad10.4EMD, LMNA
13atrial standstill, digenic10.3EMD, LMNA
14biotin-thiamine-responsive basal ganglia disease10.3CAV1, LEP
15antidepressant type abuse10.3LEP, PPARG
16pelger-huet anomaly10.3EMD, LMNA
17tooth agenesis10.3CAV1, LMNA
18partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome10.1
19deafness, x-linked 510.0LEP, PPARG
20mucolipidoses10.0LEP, PPARG
21cardiomyopathy10.0
22microcephaly and chorioretinopathy 110.0EMD, LMNA
23atherosclerosis10.0
24sleep apnea10.0
25obstructive sleep apnea10.0
26exostosis9.9LEP, PLIN1
27hypertriglyceridemia9.8
28dilated cardiomyopathy9.8
29focal segmental glomerulosclerosis9.8
30follicular lymphoma9.8
31glomerulonephritis9.8
32hepatitis9.8
33polycystic ovary syndrome9.8
34glomerulosclerosis9.8
35lymphoma9.8
36pre-eclampsia9.8
37emery-dreifuss muscular dystrophy9.8
38eclampsia9.8
39vascular disease9.8
40hyperaldosteronism9.8
41thyroiditis9.8
42muscular dystrophy9.8
43angiomatous meningioma9.8LEP, PPARG, SREBF1
44survival motor neuron spinal muscular atrophy9.7LEP, PPARG, SREBF1
45neuronitis9.6CAV1, LMNA, PLIN1, PPARG
46odontoclasia9.6BANF1, EMD, LMNA
47pancreatic cystadenoma9.4BANF1, LMNA
48kleine-levin hibernation syndrome9.3AKT2, BANF1, PLIN1
49tracheal calcification9.3LEP, PLIN1, PPARG, SREBF1
50diabetes mellitus, noninsulin-dependent8.5AKT2, LEP, LMNA, PLIN1, PPARG, SREBF1

Graphical network of the top 20 diseases related to Familial Partial Lipodystrophy:



Diseases related to familial partial lipodystrophy

Symptoms for Familial Partial Lipodystrophy

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UMLS symptoms related to Familial Partial Lipodystrophy:


hepatomegaly, myalgia

Drugs & Therapeutics for Familial Partial Lipodystrophy

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Drugs for Familial Partial Lipodystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
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
2
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
1Phase 2 Study of Obeticholic Acid for Lipodystrophy PatientsRecruitingNCT02430077Phase 2
2CLINICAL PROTOCOL to Investigate the Long-term Safety and Efficacy of Metreleptin in Various Forms of Partial LipodystrophyRecruitingNCT02654977Phase 2
3Expanded Access Metreleptin StudyEnrolling by invitationNCT02404896Phase 2
4Identification of a New Gene Involved in Hereditary LipodystrophyCompletedNCT02056912
5Familial Partial Lipodystrophy StudyRecruitingNCT02858830
6Lipodystrophy Connect Patient RegistryRecruitingNCT02577952

Search NIH Clinical Center for Familial Partial Lipodystrophy


Cochrane evidence based reviews: lipodystrophy, familial partial

Genetic Tests for Familial Partial Lipodystrophy

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Genetic tests related to Familial Partial Lipodystrophy:

id Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy25

Anatomical Context for Familial Partial Lipodystrophy

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MalaCards organs/tissues related to Familial Partial Lipodystrophy:

34
Skin, Ovary, Breast, Thyroid, Adipocyte, Skeletal muscle

Animal Models for Familial Partial Lipodystrophy or affiliated genes

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MGI Mouse Phenotypes related to Familial Partial Lipodystrophy:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.2AKT2, CAV1, LEP, LMNA, PLIN1, PPARG
2MP:00053757.8AKT2, CAV1, LEP, LMNA, PLIN1, PPARG
3MP:00053697.6AKT2, CAV1, EMD, LEP, LMNA, PLIN1
4MP:00053707.6AKT2, CAV1, LEP, LMNA, PLIN1, PPARG
5MP:00053767.2AKT2, CAV1, LEP, LMNA, PLIN1, PPARG

Publications for Familial Partial Lipodystrophy

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Articles related to Familial Partial Lipodystrophy:

(show top 50)    (show all 106)
idTitleAuthorsYear
1
Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -I^ (PPARG) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A/C (LMNA) mutations. (26756202)
2016
2
A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N). (26775134)
2016
3
An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease. (27504462)
2016
4
Clinical Utility Gene Card for: Familial partial lipodystrophy. (27485410)
2016
5
Fitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl. (26976018)
2016
6
Familial partial lipodystrophy as differential diagnosis of polycystic ovary syndrome. (26662654)
2015
7
Familial partial lipodystrophy, Dunnigan variety - challenges for patient care during pregnancy: a case report. (25885670)
2015
8
Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3. (26119484)
2015
9
Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy. (25114292)
2014
10
A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. (25475467)
2014
11
Primary intestinal follicular lymphoma and premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy. (24739605)
2014
12
Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations. (23243001)
2013
13
Biochemical, hormonal and genetic evaluation of the families of two Brazilian patients with type 2 familial partial lipodystrophy]. (24343626)
2013
14
Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family. (24002959)
2013
15
Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations. (21883346)
2012
16
Vascular placental abnormalities and newborn death in a pregnant diabetic woman with familial partial lipodystrophy type 3: a possible role for peroxisome proliferator-activated receptor I^. (22559930)
2012
17
Premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy and hypertriglyceridemia. (22989829)
2012
18
Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. (22935701)
2012
19
Breast augmentation in Familial Partial Lipodystrophy: a case report. (21306965)
2011
20
Regional decrease of subcutaneous adipose tissue in patients with type 2 familial partial lipodystrophy is associated with changes in thyroid hormone metabolism. (20373986)
2010
21
Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations. (20041886)
2010
22
Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family. (20625965)
2010
23
Post-mortem findings in Dunnigan-type familial partial lipodystrophy. (20546275)
2010
24
Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy. (19793595)
2009
25
Structure of the lamin A/C R482W mutant responsible for dominant familial partial lipodystrophy (FPLD). (19574635)
2009
26
Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy. (18805829)
2009
27
Serum retinol binding protein 4 in patients with familial partial lipodystrophy. (19303000)
2009
28
Obstructive sleep apnea in 2 women with familial partial lipodystrophy due to a heterozygous LMNA R482Q mutation. (17893350)
2007
29
Long-term efficacy of leptin replacement in patients with Dunnigan-type familial partial lipodystrophy. (17379009)
2007
30
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660). (17250669)
2007
31
Familial partial lipodystrophy due to the LMNA R482W mutation with multinodular goitre, extrapyramidal syndrome and primary hyperaldosteronism. (17524034)
2007
32
The retinol acid receptor B gene is hypermethylated in patients with familial partial lipodystrophy. (17556535)
2007
33
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. (18041775)
2007
34
Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy. (16415042)
2006
35
An imaging study of body composition including lipodeposition pattern in a patient of familial partial lipodystrophy (Dunnigan type). (16459536)
2005
36
Long-term treatment experience in a subject with Dunnigan-type familial partial lipodystrophy: efficacy of rosiglitazone. (16241930)
2005
37
Adipokines and the insulin resistance syndrome in familial partial lipodystrophy caused by a mutation in lamin A/C. (16320084)
2005
38
Familial partial lipodystrophy complicated by pre-eclampsia. (15814388)
2005
39
Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription. (14597414)
2003
40
Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells. (12729796)
2003
41
Post-mortem findings in familial partial lipodystrophy, Dunnigan variety. (12647844)
2002
42
Consider cardiomyopathy in subjects with familial partial lipodystrophy. (11790714)
2002
43
Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene. (11231979)
2001
44
Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). (10843151)
2000
45
Familial partial lipodystrophy: a monogenic form of the insulin resistance syndrome. (11136544)
2000
46
Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. (10999845)
2000
47
Mutations of the lamin A/C gene causing familial partial lipodystrophy: significance for the development of hyperlipidemia and insulin resistant diabetes mellitus]. (10820868)
2000
48
Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). (9920078)
1999
49
Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22. (9500556)
1998
50
Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state. (3712389)
1986

Variations for Familial Partial Lipodystrophy

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Clinvar genetic disease variations for Familial Partial Lipodystrophy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_170707.3(LMNA): c.1445G> A (p.Arg482Gln)single nucleotide variantPathogenicrs11575937GRCh37Chr 1, 156106776: 156106776
2LMNANM_170707.3(LMNA): c.398G> T (p.Arg133Leu)single nucleotide variantPathogenicrs60864230GRCh37Chr 1, 156100449: 156100449

Expression for genes affiliated with Familial Partial Lipodystrophy

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Search GEO for disease gene expression data for Familial Partial Lipodystrophy.

Pathways for genes affiliated with Familial Partial Lipodystrophy

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Pathways related to Familial Partial Lipodystrophy according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
19.5CAV1, LEP
29.5AKT2, LEP
39.4AKT2, CAV1
49.3CAV1, EMD, LMNA
5
Show member pathways
9.1AKT2, PLIN1, PPARG
6
Show member pathways
9.1AKT2, CAV1, PPARG
7
Show member pathways
9.0AKT2, LMNA, SREBF1
8
Show member pathways
9.0BANF1, EMD, LMNA
9
Show member pathways
8.6LEP, PLIN1, PPARG, SREBF1
10
Show member pathways
8.5AKT2, LEP, PPARG, SREBF1
118.5AKT2, PLIN1, PPARG, SREBF1
128.3LEP, LMNA, PLIN1, PPARG, SREBF1
13
Show member pathways
8.1AKT2, LEP, PLIN1, PPARG, SREBF1

GO Terms for genes affiliated with Familial Partial Lipodystrophy

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Cellular components related to Familial Partial Lipodystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear envelopeGO:00056359.5EMD, LMNA, SREBF1
2cytosolGO:00058296.8AKT2, BANF1, CAV1, LMNA, PLIN1, PPARG

Biological processes related to Familial Partial Lipodystrophy according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1regulation of protein localization to nucleusGO:190018010.4LEP, LMNA
2regulation of fat cell differentiationGO:004559810.1LEP, PPARG
3response to lipidGO:003399310.0PPARG, SREBF1
4negative regulation of smooth muscle cell proliferationGO:004866210.0CAV1, PPARG
5placenta developmentGO:000189010.0LEP, PPARG
6regulation of fatty acid metabolic processGO:00192179.9CAV1, SREBF1
7regulation of nitric-oxide synthase activityGO:00509999.8CAV1, LEP
8cellular response to hyperoxiaGO:00714559.7CAV1, PPARG
9response to nutrientGO:00075849.6CAV1, LEP, PPARG
10mitotic nuclear envelope reassemblyGO:00070849.6BANF1, EMD, LMNA
11response to retinoic acidGO:00325269.5PPARG, SREBF1
12mitotic nuclear envelope disassemblyGO:00070779.5BANF1, EMD, LMNA
13response to progesteroneGO:00325709.4CAV1, SREBF1
14lipid metabolic processGO:00066299.0LEP, PLIN1, PPARG, SREBF1
15cellular response to insulin stimulusGO:00328698.9AKT2, PPARG, SREBF1
16negative regulation of transcription from RNA polymerase II promoterGO:00001228.5CAV1, LEP, PPARG, SREBF1

Sources for Familial Partial Lipodystrophy

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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