MCID: FML012
MIFTS: 51

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 48 25 13 68
Lipodystrophy, Familial Partial 25 27 50 39
Familial Partial Lipodystrophy, Type 2 68
Dunnigan-Kobberling Syndrome 25
Kobberling-Dunnigan Syndrome 25
 
Koberling-Dunnigan Syndrome 11
Dunnigan Syndrome 11
Fpld 48
Fpl 25

Classifications:



External Ids:

Disease Ontology11 DOID:0050440
MeSH39 D052496
SNOMED-CT62 49292002
NCIt45 C84708
UMLS68 C0271694, C1720859, C1720860 C1720861, more

Summaries for Familial Partial Lipodystrophy

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NIH Rare Diseases:48 Familial partial lipodystrophy (FPLD) is a group of diseases characterized by an abnormal distribution of fat around the body. Specifically, fat is lost in the arms, legs, and hips, and gained around the face and liver. Symptoms usually develop around puberty and include problems breaking down food and resistance to the hormone that helps control blood sugar (insulin). Insulin resistance can eventually lead to diabetes. Other symptoms may include inflammation of the pancreas (pancreatitis), heart problems, and high blood pressure (hypertension). There are at least six subtypes of FPLD. The most common form is type 2.  Familial partial lipodystrophy can be caused by a change (mutation) in one of several genes. These genes are responsible for making proteins that play an important role in fat storage. Changes in any of these genes can reduce or eliminate the function of the proteins they produce. This impairs the development, structure, or function of the fat cells (adipocytes), making them unable to properly store and use fats. The condition can be inherited in an autosomal dominant or autosomal recessive manner. Treatment may require a team of specialists who can monitor the patient for any health changes and prescribe a special diet and medication to treat the symptoms of the disease. Last updated: 10/8/2016

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 Nuclear Envelope Reassembly and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include skin, ovary and breast, and related mouse phenotypes are skeleton and reproductive system.

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

Genetics Home Reference:25 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.

Wikipedia:71 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 Familial Partial Lipodystrophy Due to Akt2 Mutations
Lipe-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 69)
idRelated DiseaseScoreTop Affiliating Genes
1lipodystrophy, familial partial, 232.9INS, LEP, LMNA
2mandibuloacral dysplasia29.1AGPAT2, BSCL2, LMNA
3obesity28.8INS, LEP, PLIN1, PPARG
4familial partial lipodystrophy due to akt2 mutations12.0
5lipe-related familial partial lipodystrophy12.0
6lipodystrophy, familial partial, type 111.9
7lipodystrophy, familial partial, type 411.8
8lipodystrophy, familial partial, type 311.4
9lipodystrophy, familial partial, type 511.2
10partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome10.9
11lipodystrophy, congenital generalized, type 110.9
12lipodystrophy, congenital generalized, type 210.9
13lipodystrophy, familial partial, type 610.9
14lipodystrophy10.7
15linear scleroderma10.4EMD, LMNA
16emery-dreifuss muscular dystrophy 2, ad10.4EMD, LMNA
17atrial standstill, digenic10.3EMD, LMNA
18pelger-huet anomaly10.3EMD, LMNA
19microcephaly and chorioretinopathy 110.2EMD, LMNA
20casr-related disorders10.2INS, PPARG
21nondystrophic myotonia10.1INS, LEP
22exostosis10.1LEP, PLIN1
23scleredema adultorum10.1INS, LEP
24patellofemoral pain syndrome10.1INS, LEP
25dysthymic disorder10.1INS, LEP
26alstrom syndrome10.1INS, LEP
27keratoacanthoma10.0INS, LEP
28breast mucoepidermoid carcinoma10.0INS, LEP
29diabetic encephalopathy10.0INS, LEP
30cardiomyopathy9.9
31antidepressant type abuse9.9INS, LEP, PPARG
32deafness, x-linked 59.9INS, LEP, PPARG
33mucolipidoses9.9INS, LEP, PPARG
34neonatal diabetes mellitus9.9INS, LEP, PPARG
35diffuse large b-cell lymphoma9.9INS, LEP
36chronic myelomonocytic leukemia9.9INS, LEP
37angiomatous meningioma9.9INS, LEP, PPARG
38femoral neuropathy9.9INS, LEP, PPARG
39survival motor neuron spinal muscular atrophy9.8INS, LEP, PPARG
40atherosclerosis9.8
41sleep apnea9.8
42obstructive sleep apnea9.8
43hypertrichosis9.8INS, LEP, PPARG
44gemistocytic astrocytoma9.8INS, LEP, PPARG
45gestational choriocarcinoma9.8INS, LEP
46hypertriglyceridemia9.7
47dilated cardiomyopathy9.7
48focal segmental glomerulosclerosis9.7
49follicular lymphoma9.7
50glomerulonephritis9.7

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



Diseases related to familial partial lipodystrophy

Symptoms & Phenotypes for Familial Partial Lipodystrophy

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UMLS symptoms related to Familial Partial Lipodystrophy:


hepatomegaly, myalgia

MGI Mouse Phenotypes related to Familial Partial Lipodystrophy according to GeneCards Suite gene sharing:

41 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.8AGPAT2, CAV1, INS, LEP, LMNA, PPARG
2MP:00053897.8BSCL2, CAV1, INS, LEP, LMNA, PPARG
3MP:00053697.4CAV1, EMD, INS, LEP, LMNA, PLIN1
4MP:00053847.4BSCL2, CAV1, EMD, INS, LEP, LMNA
5MP:00053797.3AGPAT2, BSCL2, CAV1, INS, LEP, LMNA
6MP:00053817.2AGPAT2, BSCL2, CAV1, INS, LEP, LMNA
7MP:00053877.2AGPAT2, BSCL2, CAV1, INS, LEP, LMNA
8MP:00053977.1AGPAT2, BSCL2, CAV1, INS, LEP, LMNA
9MP:00053857.1BSCL2, CAV1, EMD, INS, LEP, LMNA
10MP:00053706.8AGPAT2, BSCL2, CAV1, INS, LEP, LMNA
11MP:00107716.7AGPAT2, BSCL2, CAV1, INS, LEP, LMNA
12MP:00053676.6AGPAT2, BSCL2, CAV1, INS, LEP, LMNA
13MP:00053786.5AGPAT2, BSCL2, CAV1, INS, LEP, LMNA
14MP:00053766.5AGPAT2, BSCL2, CAV1, INS, LEP, LMNA
15MP:00053756.4AGPAT2, BSCL2, CAV1, INS, LEP, LMNA
16MP:00053866.2AGPAT2, BSCL2, CAV1, EMD, INS, LEP

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 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
2LaxativesPhase 2520
3Gastrointestinal AgentsPhase 28109
4CatharticsPhase 2520
5
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
1The BROADEN Study: A Study of Volanesorsen (Formerly ISIS-APOCIIIRx) in Patients With Familial Partial LipodystrophyRecruitingNCT02527343Phase 2, Phase 3
2Phase 2 Study of Obeticholic Acid for Lipodystrophy PatientsRecruitingNCT02430077Phase 2
3CLINICAL PROTOCOL to Investigate the Long-term Safety and Efficacy of Metreleptin in Various Forms of Partial LipodystrophyRecruitingNCT02654977Phase 2
4Expanded Access Metreleptin StudyEnrolling by invitationNCT02404896Phase 2
5Identification of a New Gene Involved in Hereditary LipodystrophyCompletedNCT02056912
6Familial Partial Lipodystrophy StudyRecruitingNCT02858830
7Lipodystrophy 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 Lipodystrophy27

Anatomical Context for Familial Partial Lipodystrophy

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MalaCards organs/tissues related to Familial Partial Lipodystrophy:

36
Skin, Ovary, Breast, Thyroid, Adipocyte, Skeletal muscle

Publications for Familial Partial Lipodystrophy

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Articles related to Familial Partial Lipodystrophy:

(show top 50)    (show all 108)
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
LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A. (27841971)
2016
3
A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N). (26775134)
2016
4
An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease. (27504462)
2016
5
Familial partial lipodystrophy presenting as metabolic syndrome. (27919367)
2016
6
Clinical Utility Gene Card for: Familial partial lipodystrophy. (27485410)
2016
7
Fitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl. (26976018)
2016
8
Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy. (27376152)
2016
9
A Case of Familial Partial Lipodystrophy: From Clinical Phenotype to Genetics. (27026223)
2016
10
Type 1 familial partial lipodystrophy: understanding the KAPbberling syndrome. (27473102)
2016
11
Familial partial lipodystrophy as differential diagnosis of polycystic ovary syndrome. (26662654)
2015
12
Familial partial lipodystrophy, Dunnigan variety - challenges for patient care during pregnancy: a case report. (25885670)
2015
13
Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3. (26119484)
2015
14
The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. (25524705)
2015
15
Erratum: Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation. (25774228)
2015
16
Familial partial lipodystrophy type 3: a new mutation on the PPARG gene. (26158656)
2015
17
Evaluation of epicardial adipose tissue in familial partial lipodystrophy. (25859279)
2015
18
Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy. (25114292)
2014
19
A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. (25475467)
2014
20
Primary intestinal follicular lymphoma and premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy. (24739605)
2014
21
Structural basis of the transactivation deficiency of the human PPARI^ F360L mutant associated with familial partial lipodystrophy. (25004973)
2014
22
A woman with familial partial lipodystrophy and the complications of her four pregnancies. (27512436)
2014
23
Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations. (23243001)
2013
24
Biochemical, hormonal and genetic evaluation of the families of two Brazilian patients with type 2 familial partial lipodystrophy]. (24343626)
2013
25
Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family. (24002959)
2013
26
Increased skeletal muscle volume in women with familial partial lipodystrophy, Dunnigan variety. (23783098)
2013
27
Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA. (24080738)
2013
28
Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations. (21883346)
2012
29
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
30
Premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy and hypertriglyceridemia. (22989829)
2012
31
Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. (22935701)
2012
32
Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation. (22938045)
2012
33
A new method for body fat evaluation, body adiposity index, is useful in women with familial partial lipodystrophy. (22095113)
2012
34
Quantitative whole-body MRI in familial partial lipodystrophy type 2: changes in adipose tissue distribution coincide with biochemical improvement. (23096204)
2012
35
Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene. (22276265)
2012
36
Comparison of efficacy and safety of leptin replacement therapy in moderately and severely hypoleptinemic patients with familial partial lipodystrophy of the Dunnigan variety. (22170723)
2012
37
Breast augmentation in Familial Partial Lipodystrophy: a case report. (21306965)
2011
38
Characterisation of non-obese diabetic patients with marked insulin resistance identifies a novel familial partial lipodystrophy-associated PPARI^ mutation (Y151C). (21479595)
2011
39
Surgical management of phenotypic alterations related to the Dunnigan variety of familial partial lipodystrophy. (21561824)
2011
40
Successful treatment for the Dunnigan-type familial partial lipodystrophy with Roux-en-Y gastric bypass. (21521325)
2011
41
Visual vignette. Type 2 familial partial lipodystrophy syndrome of the Dunnigan variety. (21454231)
2011
42
Regional decrease of subcutaneous adipose tissue in patients with type 2 familial partial lipodystrophy is associated with changes in thyroid hormone metabolism. (20373986)
2010
43
Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations. (20041886)
2010
44
Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family. (20625965)
2010
45
Post-mortem findings in Dunnigan-type familial partial lipodystrophy. (20546275)
2010
46
A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features. (21031082)
2010
47
Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy. (19793595)
2009
48
Structure of the lamin A/C R482W mutant responsible for dominant familial partial lipodystrophy (FPLD). (19574635)
2009
49
Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy. (18805829)
2009
50
Serum retinol binding protein 4 in patients with familial partial lipodystrophy. (19303000)
2009

Variations for Familial Partial Lipodystrophy

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Clinvar genetic disease variations for Familial Partial Lipodystrophy:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_170707.3(LMNA): c.178C> G (p.Arg60Gly)SNVPathogenicrs28928900GRCh37Chr 1, 156084887: 156084887
2LMNANM_170707.3(LMNA): c.1580G> C (p.Arg527Pro)SNVPathogenicrs57520892GRCh37Chr 1, 156106995: 156106995
3LMNANM_170707.3(LMNA): c.1445G> A (p.Arg482Gln)SNVPathogenicrs11575937GRCh37Chr 1, 156106776: 156106776
4LMNANM_170707.3(LMNA): c.398G> T (p.Arg133Leu)SNVPathogenicrs60864230GRCh37Chr 1, 156100449: 156100449
5LMNANM_005572.3(LMNA): c.1444C> T (p.Arg482Trp)SNVPathogenicrs57920071GRCh37Chr 1, 156106775: 156106775
6LMNANM_170707.3(LMNA): c.1445G> T (p.Arg482Leu)SNVPathogenicrs11575937GRCh37Chr 1, 156106776: 156106776
7LMNANM_170707.3(LMNA): c.1394G> A (p.Gly465Asp)SNVPathogenicrs61282106GRCh37Chr 1, 156106725: 156106725
8LMNANM_170707.3(LMNA): c.1745G> A (p.Arg582His)SNVPathogenicrs57830985GRCh37Chr 1, 156108325: 156108325
9LMNANM_170707.3(LMNA): c.688G> A (p.Asp230Asn)SNVPathogenicrs61214927GRCh37Chr 1, 156104644: 156104644
10LMNANM_170707.3(LMNA): c.1072G> A (p.Glu358Lys)SNVPathogenicrs60458016GRCh37Chr 1, 156105827: 156105827
11LMNANM_005572.3(LMNA): c.1458G> T (p.Lys486Asn)SNVPathogenicrs59981161GRCh37Chr 1, 156106789: 156106789
12LMNANM_170707.3(LMNA): c.1488+5G> CSNVPathogenicrs267607543GRCh37Chr 1, 156106824: 156106824
13LMNANM_170707.3(LMNA): c.1961dupG (p.Thr655Asnfs)duplicationPathogenicrs863225024GRCh37Chr 1, 156108541: 156108541
14PPARGNM_015869.4(PPARG): c.1484C> T (p.Pro495Leu)SNVLikely pathogenic, Pathogenicrs121909244GRCh37Chr 3, 12475610: 12475610

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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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
1endoplasmic reticulumGO:00057838.3AGPAT2, CAV1, EMD, PLIN1

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1mitotic nuclear envelope disassemblyGO:000707710.5EMD, LMNA
2mitotic nuclear envelope reassemblyGO:000708410.5EMD, LMNA
3placenta developmentGO:000189010.3LEP, PPARG
4positive regulation of cytokine productionGO:000181910.3AGPAT2, LEP
5regulation of protein localization to nucleusGO:190018010.3LEP, LMNA
6regulation of fat cell differentiationGO:004559810.2LEP, PPARG
7negative regulation of acute inflammatory responseGO:000267410.1INS, PPARG
8cellular response to hyperoxiaGO:007145510.0CAV1, PPARG
9negative regulation of lipid catabolic processGO:005099510.0BSCL2, INS
10positive regulation of insulin receptor signaling pathwayGO:004662810.0INS, LEP
11negative regulation of smooth muscle cell proliferationGO:00486629.9CAV1, PPARG
12lipid metabolic processGO:00066299.8LEP, PLIN1, PPARG
13lipid storageGO:00199159.8BSCL2, CAV1
14glucose homeostasisGO:00425939.8INS, LEP, PPARG
15regulation of nitric-oxide synthase activityGO:00509999.8CAV1, LEP
16positive regulation of gene expressionGO:00106289.3CAV1, INS, LMNA
17response to nutrientGO:00075848.9CAV1, LEP, PPARG

Sources for Familial Partial 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