MCID: LPD037
MIFTS: 51

Lipodystrophy, Familial Partial, 2 malady

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

Aliases & Classifications for Lipodystrophy, Familial Partial, 2

About this section

Aliases & Descriptions for Lipodystrophy, Familial Partial, 2:

Name: Lipodystrophy, Familial Partial, 2 51 69 12
Familial Partial Lipodystrophy Type 2 47 24 53 26
Lipoatrophic Diabetes 11 47 69 13
Fpld2 47 24 53 69
Familial Partial Lipodystrophy, Dunnigan Type 47 24 53
Lipodystrophy, Familial Partial, Type 2 51 47
Dunnigan Syndrome 47 53
Fpl2 47 69
Generalized Lipoatrophy Associated with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy and Leukomelanodermic Papules 69
Lipodystrophy, Familial, of Limbs and Lower Trunk 47
 
Lipodystrophy Familial of Limbs and Lower Trunk 69
Lipodystrophy, Familial Partial, Dunnigan Type 47
Familial Partial Lipodystrophy Dunnigan Type 69
Familial Partial Lipodystrophy, Type 2 67
Familial Generalized Lipodystrophy 67
Diabetes Mellitus, Lipoatrophic 38
Lipoatrophic Diabetes Mellitus 67
Lipodystrophy, Reverse Partial 47
Lipodystrophy Reverse Partial 69

Characteristics:

Orphanet epidemiological data:

53
familial partial lipodystrophy type 2:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult; Age of death: adult,elderly

HPO:

63
lipodystrophy, familial partial, 2:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 151660
Disease Ontology11 DOID:11712
NCIt44 C34537
Orphanet53 ORPHA2348
UMLS via Orphanet68 C1720860
ICD10 via Orphanet30 E88.1
MedGen36 C1720860

Summaries for Lipodystrophy, Familial Partial, 2

About this section
OMIM:51 Familial partial lipodystrophy is a metabolic disorder characterized by abnormal subcutaneous adipose tissue... (151660) more...

MalaCards based summary: Lipodystrophy, Familial Partial, 2, also known as familial partial lipodystrophy type 2, is related to aredyld and familial partial lipodystrophy, and has symptoms including round face, diabetes mellitus and insulin resistance. An important gene associated with Lipodystrophy, Familial Partial, 2 is LMNA (Lamin A/C), and among its related pathways are Signaling events mediated by PTP1B and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include liver, skin and skeletal muscle, and related mouse phenotypes are adipose tissue and vision/eye.

Disease Ontology:11 A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes.

NIH Rare Diseases:47 Familial partial lipodystrophy type 2 is a rare genetic condition that affects the amount and distribution of fat in the body. It is characterized by a loss of fatty tissue from the torso, buttocks, and limbs and a buildup of fat in the face, neck, shoulders and abdomen. Symptoms typically develop around puberty. This condition can be associated with a number of metabolic complications, including insulin resistance, high blood cholesterol levels (dyslipidemia), diabetes, and liver steatosis. These metabolic complications lead to an increased risk for cardiovascular disease. Familial partial lipodystrophy type 2 is caused by mutations in the LMNA gene. It is inherited in an autosomal dominant manner. Treatment includes correction of metabolic abnormalities and management of complications through diet, exercise, and medications.    Last updated: 7/3/2016

UniProtKB/Swiss-Prot:69 Lipodystrophy, familial partial, 2: A disorder characterized by the loss of subcutaneous adipose tissue in the lower parts of the body (limbs, buttocks, trunk). It is accompanied by an accumulation of adipose tissue in the face and neck causing a double chin, fat neck, or cushingoid appearance. Adipose tissue may also accumulate in the axillae, back, labia majora, and intraabdominal region. Affected patients are insulin-resistant and may develop glucose intolerance and diabetes mellitus after age 20 years, hypertriglyceridemia, and low levels of high density lipoprotein cholesterol.

Wikipedia:70 Dunnigan-type familial partial lipodystrophy, abbreviated as (FPLD), is a rare monogenic form of insulin... more...

Related Diseases for Lipodystrophy, Familial Partial, 2

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 Lipodystrophy, Familial Partial, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1aredyld11.8
2familial partial lipodystrophy11.6
3lipodystrophy, familial partial, type 111.2
4lipodystrophy, congenital generalized, type 211.2
5lipodystrophy, congenital generalized, type 111.1
6acquired generalized lipodystrophy11.1
7nondystrophic myotonia10.1INS, LEP
8antidepressant type abuse10.1INS, LEP
9scleredema adultorum10.1INS, LEP
10patellofemoral pain syndrome10.0INS, LEP
11dysthymic disorder10.0INS, LEP
12deafness, x-linked 510.0INS, LEP
13alstrom syndrome10.0INS, LEP
14keratoacanthoma10.0INS, LEP
15breast mucoepidermoid carcinoma10.0INS, LEP
16diabetic encephalopathy10.0INS, LEP
17tracheal calcification10.0INS, LEP
18diffuse large b-cell lymphoma10.0INS, LEP
19mucolipidoses10.0INS, LEP
20gestational choriocarcinoma10.0INS, LEP
21short bowel syndrome10.0INS, LEP
22neonatal diabetes mellitus10.0INS, LEP
23chronic myelomonocytic leukemia10.0INS, LEP
24periampullary adenoma9.9INS, LEP
25alveoli adenoma9.9INS, LEP
26angiomatous meningioma9.9INS, LEP
27precursor b lymphoblastic lymphoma/leukemia9.9INS, LEP
28femoral neuropathy9.9INS, LEP
29survival motor neuron spinal muscular atrophy9.9INS, LEP
30lung cancer susceptibility 29.8INS, LEP
31hypertrichosis9.8INS, LEP
32lipodystrophy9.8
33isthmus cancer9.7INS, LEP
34gemistocytic astrocytoma9.6INS, LEP
35diabetes mellitus, noninsulin-dependent9.6INS, LEP, LMNA
36lymphoblastic lymphoma9.5INS, LEP

Graphical network of the top 20 diseases related to Lipodystrophy, Familial Partial, 2:



Diseases related to lipodystrophy, familial partial, 2

Symptoms for Lipodystrophy, Familial Partial, 2

About this section

Symptoms by clinical synopsis from OMIM:

151660

Clinical features from OMIM:

151660

Human phenotypes related to Lipodystrophy, Familial Partial, 2:

 63 53 (show all 55)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 round face63 53 hallmark (90%) Very frequent (99-80%) HP:0000311
2 diabetes mellitus63 53 hallmark (90%) Very frequent (99-80%) HP:0000819
3 insulin resistance63 53 hallmark (90%) Very frequent (99-80%) HP:0000855
4 multiple lipomas63 hallmark (90%) HP:0001012
5 hepatomegaly63 53 hallmark (90%) Very frequent (99-80%) HP:0002240
6 abnormality of lipid metabolism63 hallmark (90%) HP:0003119
7 skeletal muscle hypertrophy63 53 hallmark (90%) Very frequent (99-80%) HP:0003712
8 lipoatrophy63 53 hallmark (90%) Very frequent (99-80%) HP:0100578
9 secondary amenorrhea63 53 typical (50%) Frequent (79-30%) HP:0000869
10 thin skin63 53 typical (50%) Frequent (79-30%) HP:0000963
11 abnormality of the nail63 53 typical (50%) Frequent (79-30%) HP:0001597
12 advanced eruption of teeth63 53 typical (50%) Frequent (79-30%) HP:0006288
13 polycystic ovaries63 53 occasional (7.5%) Occasional (29-5%) HP:0000147
14 acanthosis nigricans63 53 occasional (7.5%) Occasional (29-5%) HP:0000956
15 hypertrichosis63 occasional (7.5%) HP:0000998
16 hepatic steatosis63 53 occasional (7.5%) Occasional (29-5%) HP:0001397
17 congestive heart failure63 53 occasional (7.5%) Occasional (29-5%) HP:0001635
18 hypertrophic cardiomyopathy63 53 occasional (7.5%) Occasional (29-5%) HP:0001639
19 coronary artery disease63 53 occasional (7.5%) Occasional (29-5%) HP:0001677
20 splenomegaly63 53 occasional (7.5%) Occasional (29-5%) HP:0001744
21 myopathy63 53 occasional (7.5%) Occasional (29-5%) HP:0003198
22 myalgia63 53 occasional (7.5%) Occasional (29-5%) HP:0003326
23 abnormality of complement system63 53 occasional (7.5%) Occasional (29-5%) HP:0005339
24 cranial nerve paralysis63 53 occasional (7.5%) Occasional (29-5%) HP:0006824
25 toxemia of pregnancy63 occasional (7.5%) HP:0100603
26 cellulitis63 53 occasional (7.5%) Occasional (29-5%) HP:0100658
27 glomerulopathy63 53 occasional (7.5%) Occasional (29-5%) HP:0100820
28 increased facial adipose tissue63 HP:0000287
29 increased adipose tissue around the neck63 HP:0000468
30 hypertension63 HP:0000822
31 insulin-resistant diabetes mellitus63 HP:0000831
32 hyperinsulinemia63 HP:0000842
33 xanthomatosis63 53 Very frequent (99-80%) HP:0000991
34 reduced subcutaneous adipose tissue63 HP:0001002
35 hirsutism63 HP:0001007
36 prominent superficial veins63 HP:0001015
37 acute pancreatitis63 HP:0001735
38 hypertriglyceridemia63 53 Very frequent (99-80%) HP:0002155
39 atherosclerosis63 53 Frequent (79-30%) HP:0002621
40 hyperglycemia63 HP:0003074
41 hypoalphalipoproteinemia63 HP:0003233
42 loss of subcutaneous adipose tissue in limbs63 53 Frequent (79-30%) HP:0003635
43 labial pseudohypertrophy63 HP:0008739
44 adipose tissue loss63 HP:0008887
45 increased intramuscular fat63 HP:0008985
46 increased intraabdominal fat63 HP:0008993
47 loss of truncal subcutaneous adipose tissue63 HP:0009002
48 enlarged peripheral nerve63 HP:0012645
49 pancreatitis53 Occasional (29-5%)
50 generalized hirsutism53 Occasional (29-5%)
51 aplasia/hypoplasia of the skin53 Very frequent (99-80%)
52 lipodystrophy53 Very frequent (99-80%)
53 abnormality of skeletal muscle fiber size53 Occasional (29-5%)
54 eclampsia53 Occasional (29-5%)
55 dysmenorrhea53 Occasional (29-5%)

UMLS symptoms related to Lipodystrophy, Familial Partial, 2:


hepatomegaly, myalgia

Drugs & Therapeutics for Lipodystrophy, Familial Partial, 2

About this section

Drugs for Lipodystrophy, Familial Partial, 2 (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

Search NIH Clinical Center for Lipodystrophy, Familial Partial, 2


Cochrane evidence based reviews: diabetes mellitus, lipoatrophic

Genetic Tests for Lipodystrophy, Familial Partial, 2

About this section

Genetic tests related to Lipodystrophy, Familial Partial, 2:

id Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy 226
2 Familial Partial Lipodystrophy Type 224 LMNA

Anatomical Context for Lipodystrophy, Familial Partial, 2

About this section

MalaCards organs/tissues related to Lipodystrophy, Familial Partial, 2:

35
Liver, Skin, Skeletal muscle, Ovary, Heart

Animal Models for Lipodystrophy, Familial Partial, 2 or affiliated genes

About this section

MGI Mouse Phenotypes related to Lipodystrophy, Familial Partial, 2:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1GFPT2, INS, LEP, LMNA
2MP:00053918.4GFPT2, INS, LEP, LMNA

Publications for Lipodystrophy, Familial Partial, 2

About this section

Variations for Lipodystrophy, Familial Partial, 2

About this section

UniProtKB/Swiss-Prot genetic disease variations for Lipodystrophy, Familial Partial, 2:

69 (show all 16)
id Symbol AA change Variation ID SNP ID
1LMNAp.Gly465AspVAR_009989rs61282106
2LMNAp.Arg482LeuVAR_009991rs11575937
3LMNAp.Arg482GlnVAR_009992rs11575937
4LMNAp.Arg482TrpVAR_009993rs57920071
5LMNAp.Lys486AsnVAR_009994rs59981161
6LMNAp.Arg527ProVAR_009995rs57520892
7LMNAp.Arg582HisVAR_009998rs57830985
8LMNAp.Arg133LeuVAR_016913rs60864230
9LMNAp.Arg60GlyVAR_034706rs28928900
10LMNAp.Arg28TrpVAR_039748rs59914820
11LMNAp.Arg62GlyVAR_039755rs56793579
12LMNAp.Asp230AsnVAR_039770rs61214927
13LMNAp.Arg399CysVAR_039778rs58672172
14LMNAp.Ser573LeuVAR_039789rs60890628
15LMNAp.Arg439CysVAR_070181rs62636506
16LMNAp.Lys515GluVAR_071968

Clinvar genetic disease variations for Lipodystrophy, Familial Partial, 2:

5 (show all 13)
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

Expression for genes affiliated with Lipodystrophy, Familial Partial, 2

About this section
Search GEO for disease gene expression data for Lipodystrophy, Familial Partial, 2.

Pathways for genes affiliated with Lipodystrophy, Familial Partial, 2

About this section

GO Terms for genes affiliated with Lipodystrophy, Familial Partial, 2

About this section

Biological processes related to Lipodystrophy, Familial Partial, 2 according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1regulation of protein localization to nucleusGO:190018010.0LEP, LMNA
2energy reserve metabolic processGO:00061129.9GFPT2, LEP
3positive regulation of insulin receptor signaling pathwayGO:00466289.9INS, LEP
4insulin receptor signaling pathwayGO:00082869.6INS, IRS4
5positive regulation of protein kinase B signalingGO:00518979.6INS, LEP
6positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.3INS, LEP
7positive regulation of MAPK cascadeGO:00434109.3INS, LEP
8glucose homeostasisGO:00425939.2INS, LEP
9glucose metabolic processGO:00060069.0INS, LEP

Molecular functions related to Lipodystrophy, Familial Partial, 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:00051799.5INS, LEP
2insulin receptor bindingGO:00051589.1INS, IRS4

Sources for Lipodystrophy, Familial Partial, 2

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