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

About this section

Aliases & Descriptions for Familial Partial Lipodystrophy:

Name: Familial Partial Lipodystrophy 11 47 25 13 67
Lipodystrophy, Familial Partial 25 26 49 38
Familial Partial Lipodystrophy, Type 2 67
Dunnigan-Kobberling Syndrome 25
Kobberling-Dunnigan Syndrome 25
 
Koberling-Dunnigan Syndrome 11
Dunnigan Syndrome 11
Fpld 47
Fpl 25

Classifications:



External Ids:

Disease Ontology11 DOID:0050440
MeSH38 D052496
SNOMED-CT61 49292002
NCIt44 C84708
UMLS67 C0271694, C1720859, C1720860 C1720861, more

Summaries for Familial Partial Lipodystrophy

About this section
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.

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.

Wikipedia:70 Familial partial lipodystrophy (also known as \"Köbberling–Dunnigan syndrome\") is an autosomal... more...

Related Diseases for Familial Partial Lipodystrophy

About this section

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 for Familial Partial Lipodystrophy

About this section

UMLS symptoms related to Familial Partial Lipodystrophy:


hepatomegaly, myalgia

Drugs & Therapeutics for Familial Partial Lipodystrophy

About this section

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

About this section

Genetic tests related to Familial Partial Lipodystrophy:

id Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy26

Anatomical Context for Familial Partial Lipodystrophy

About this section

MalaCards organs/tissues related to Familial Partial Lipodystrophy:

35
Skin, Ovary, Breast, Thyroid, Adipocyte, Skeletal muscle

Animal Models for Familial Partial Lipodystrophy or affiliated genes

About this section

MGI Mouse Phenotypes related to Familial Partial Lipodystrophy:

40 (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

Publications for Familial Partial Lipodystrophy

About this section

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
Familial partial lipodystrophy as differential diagnosis of polycystic ovary syndrome. (26662654)
2015
9
Familial partial lipodystrophy, Dunnigan variety - challenges for patient care during pregnancy: a case report. (25885670)
2015
10
Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3. (26119484)
2015
11
Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy. (25114292)
2014
12
A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. (25475467)
2014
13
Primary intestinal follicular lymphoma and premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy. (24739605)
2014
14
Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations. (23243001)
2013
15
Biochemical, hormonal and genetic evaluation of the families of two Brazilian patients with type 2 familial partial lipodystrophy]. (24343626)
2013
16
Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family. (24002959)
2013
17
Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations. (21883346)
2012
18
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
19
Premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy and hypertriglyceridemia. (22989829)
2012
20
Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. (22935701)
2012
21
Breast augmentation in Familial Partial Lipodystrophy: a case report. (21306965)
2011
22
Regional decrease of subcutaneous adipose tissue in patients with type 2 familial partial lipodystrophy is associated with changes in thyroid hormone metabolism. (20373986)
2010
23
Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations. (20041886)
2010
24
Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family. (20625965)
2010
25
Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy. (19793595)
2009
26
Structure of the lamin A/C R482W mutant responsible for dominant familial partial lipodystrophy (FPLD). (19574635)
2009
27
Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy. (18805829)
2009
28
Serum retinol binding protein 4 in patients with familial partial lipodystrophy. (19303000)
2009
29
Obstructive sleep apnea in 2 women with familial partial lipodystrophy due to a heterozygous LMNA R482Q mutation. (17893350)
2007
30
Long-term efficacy of leptin replacement in patients with Dunnigan-type familial partial lipodystrophy. (17379009)
2007
31
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660). (17250669)
2007
32
Familial partial lipodystrophy due to the LMNA R482W mutation with multinodular goitre, extrapyramidal syndrome and primary hyperaldosteronism. (17524034)
2007
33
The retinol acid receptor B gene is hypermethylated in patients with familial partial lipodystrophy. (17556535)
2007
34
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. (18041775)
2007
35
Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy. (16415042)
2006
36
An imaging study of body composition including lipodeposition pattern in a patient of familial partial lipodystrophy (Dunnigan type). (16459536)
2005
37
Long-term treatment experience in a subject with Dunnigan-type familial partial lipodystrophy: efficacy of rosiglitazone. (16241930)
2005
38
Adipokines and the insulin resistance syndrome in familial partial lipodystrophy caused by a mutation in lamin A/C. (16320084)
2005
39
Familial partial lipodystrophy complicated by pre-eclampsia. (15814388)
2005
40
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
41
Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells. (12729796)
2003
42
Post-mortem findings in familial partial lipodystrophy, Dunnigan variety. (12647844)
2002
43
Consider cardiomyopathy in subjects with familial partial lipodystrophy. (11790714)
2002
44
Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene. (11231979)
2001
45
Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). (10843151)
2000
46
Familial partial lipodystrophy: a monogenic form of the insulin resistance syndrome. (11136544)
2000
47
Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. (10999845)
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

About this section

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

About this section
Search GEO for disease gene expression data for Familial Partial Lipodystrophy.

Pathways for genes affiliated with Familial Partial Lipodystrophy

About this section

GO Terms for genes affiliated with Familial Partial Lipodystrophy

About this section

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 reassemblyGO:000708410.4EMD, LMNA
2regulation of protein localization to nucleusGO:190018010.4LEP, LMNA
3mitotic nuclear envelope disassemblyGO:000707710.3EMD, LMNA
4positive regulation of cytokine productionGO:000181910.2AGPAT2, LEP
5negative regulation of acute inflammatory responseGO:000267410.1INS, PPARG
6positive regulation of insulin receptor signaling pathwayGO:004662810.1INS, LEP
7placenta developmentGO:00018909.9LEP, PPARG
8regulation of fat cell differentiationGO:00455989.9LEP, PPARG
9negative regulation of lipid catabolic processGO:00509959.8BSCL2, INS
10negative regulation of smooth muscle cell proliferationGO:00486629.7CAV1, PPARG
11lipid storageGO:00199159.5BSCL2, CAV1
12glucose homeostasisGO:00425939.4INS, LEP, PPARG
13lipid metabolic processGO:00066299.4LEP, PLIN1, PPARG
14regulation of nitric-oxide synthase activityGO:00509999.4CAV1, LEP
15response to nutrientGO:00075849.3CAV1, LEP, PPARG
16cellular response to hyperoxiaGO:00714559.0CAV1, PPARG
17positive regulation of gene expressionGO:00106288.7CAV1, INS, LMNA

Sources for Familial Partial Lipodystrophy

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet