FPLD2
MCID: LPD037
MIFTS: 52

Lipodystrophy, Familial Partial, 2 (FPLD2) malady

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

Aliases & Classifications for Lipodystrophy, Familial Partial, 2

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Aliases & Descriptions for Lipodystrophy, Familial Partial, 2:

Name: Lipodystrophy, Familial Partial, 2 52 70 12
Familial Partial Lipodystrophy Type 2 48 24 54 27
Lipoatrophic Diabetes 11 48 70 13
Fpld2 48 24 54 70
Familial Partial Lipodystrophy, Dunnigan Type 48 24 54
Lipodystrophy, Familial Partial, Type 2 52 48
Dunnigan Syndrome 48 54
Fpl2 48 70
Generalized Lipoatrophy Associated with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy and Leukomelanodermic Papules 70
Lipodystrophy, Familial, of Limbs and Lower Trunk 48
 
Lipodystrophy Familial of Limbs and Lower Trunk 70
Lipodystrophy, Familial Partial, Dunnigan Type 48
Familial Partial Lipodystrophy Dunnigan Type 70
Familial Partial Lipodystrophy, Type 2 68
Familial Generalized Lipodystrophy 68
Diabetes Mellitus, Lipoatrophic 39
Lipoatrophic Diabetes Mellitus 68
Lipodystrophy, Reverse Partial 48
Lipodystrophy Reverse Partial 70

Characteristics:

Orphanet epidemiological data:

54
familial partial lipodystrophy type 2:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult; Age of death: adult,elderly

HPO:

64
lipodystrophy, familial partial, 2:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 151660
Disease Ontology11 DOID:11712
NCIt45 C34537
Orphanet54 ORPHA2348
UMLS via Orphanet69 C1720860
ICD10 via Orphanet31 E88.1
MedGen37 C1720860

Summaries for Lipodystrophy, Familial Partial, 2

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OMIM:52 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 myalgia, myalgia and Array. An important gene associated with Lipodystrophy, Familial Partial, 2 is LMNA (Lamin A/C), and among its related pathways are Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and Signaling events mediated by PTP1B. Affiliated tissues include liver, skin and skeletal muscle, and related mouse phenotypes are pigmentation and adipose tissue.

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

NIH Rare Diseases:48 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:70 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:71 Dunnigan-type familial partial lipodystrophy, abbreviated as (FPLD), is a rare monogenic form of insulin... more...

Related Diseases for Lipodystrophy, Familial Partial, 2

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

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1aredyld11.8
2familial partial lipodystrophy11.4
3lipodystrophy, congenital generalized, type 211.3
4lipodystrophy, familial partial, type 111.2
5lipodystrophy, congenital generalized, type 111.1
6acquired generalized lipodystrophy11.1
7lipodystrophy10.1
8tooth agenesis10.1LEP, LMNA
9autosomal recessive congenital ichthyosis10.1INS, LEP
10fetal warfarin syndrome10.1INS, LEP
11hyperlipoproteinemia type iv10.1INS, LEP
12not otherwise specified 3-mga-uria type10.1INS, LEP
13epidural spinal canal meningioma10.1INS, LEP
14perry syndrome10.1INS, LEP
15neurogenic arthropathy10.1INS, LEP
16chondroma10.1INS, LEP
17cataract 20, multiple types10.1INS, LEP
18limb ischemia10.1INS, LEP
19diabetic encephalopathy10.1INS, LEP
20mucopolysaccharidosis iii10.1INS, LEP
21lipomatosis10.0INS, LEP
22glomangiomyoma10.0INS, LEP
23antidepressant type abuse10.0INS, LEP
24adrenal adenoma10.0INS, LEP
25exostosis10.0INS, LEP
26peroneal neuropathy10.0INS, LEP
27hyperphosphatemia10.0INS, LEP, LMNA
28leg dermatosis10.0INS, LEP, LMNA
29thymus clear cell carcinoma10.0INS, LEP, LMNA
30chronic myocardial ischemia9.9INS, LEP
31congenital generalized lipodystrophy9.9
32hyperglycemia9.9
33edict syndrome9.9INS, LEP
34hypertriglyceridemia9.7
35ectodermal dysplasia9.7
36hepatitis9.7
37liver disease9.7
38rickets9.7
39retinitis9.7
40pancreatitis9.7
41retinal degeneration9.7
42neuropathy9.7
43nonalcoholic steatohepatitis9.7
44emery-dreifuss muscular dystrophy 3, ar9.2GFPT2, INS, IRS4, LEP, LMNA, PDE3B

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



Diseases related to lipodystrophy, familial partial, 2

Symptoms & Phenotypes for Lipodystrophy, Familial Partial, 2

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Symptoms by clinical synopsis from OMIM:

151660

Clinical features from OMIM:

151660

Human phenotypes related to Lipodystrophy, Familial Partial, 2:

 54 64 (show all 51)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polycystic ovaries64 54 Occasional (29-5%) HP:0000147
2 round face64 54 Very frequent (99-80%) HP:0000311
3 diabetes mellitus64 54 Very frequent (99-80%) HP:0000819
4 insulin resistance64 54 Very frequent (99-80%) HP:0000855
5 secondary amenorrhea64 54 Frequent (79-30%) HP:0000869
6 acanthosis nigricans64 54 Occasional (29-5%) HP:0000956
7 thin skin64 54 Frequent (79-30%) HP:0000963
8 xanthomatosis64 54 Very frequent (99-80%) HP:0000991
9 hepatic steatosis64 54 Occasional (29-5%) HP:0001397
10 abnormality of the nail64 54 Frequent (79-30%) HP:0001597
11 congestive heart failure64 54 Occasional (29-5%) HP:0001635
12 hypertrophic cardiomyopathy64 54 Occasional (29-5%) HP:0001639
13 coronary artery disease64 54 Occasional (29-5%) HP:0001677
14 pancreatitis64 54 Occasional (29-5%) HP:0001733
15 splenomegaly64 54 Occasional (29-5%) HP:0001744
16 hypertriglyceridemia64 54 Very frequent (99-80%) HP:0002155
17 generalized hirsutism64 54 Occasional (29-5%) HP:0002230
18 hepatomegaly64 54 Very frequent (99-80%) HP:0002240
19 atherosclerosis64 54 Frequent (79-30%) HP:0002621
20 myopathy64 54 Occasional (29-5%) HP:0003198
21 myalgia64 54 Occasional (29-5%) HP:0003326
22 loss of subcutaneous adipose tissue in limbs64 54 Frequent (79-30%) HP:0003635
23 skeletal muscle hypertrophy64 54 Very frequent (99-80%) HP:0003712
24 abnormality of complement system64 54 Occasional (29-5%) HP:0005339
25 advanced eruption of teeth64 54 Frequent (79-30%) HP:0006288
26 cranial nerve paralysis64 54 Occasional (29-5%) HP:0006824
27 aplasia/hypoplasia of the skin54 Very frequent (99-80%)
28 lipodystrophy64 54 Very frequent (99-80%) HP:0009125
29 abnormality of skeletal muscle fiber size64 54 Occasional (29-5%) HP:0012084
30 lipoatrophy64 54 Very frequent (99-80%) HP:0100578
31 eclampsia64 54 Occasional (29-5%) HP:0100601
32 dysmenorrhea64 54 Occasional (29-5%) HP:0100607
33 cellulitis64 54 Occasional (29-5%) HP:0100658
34 glomerulopathy64 54 Occasional (29-5%) HP:0100820
35 increased facial adipose tissue64 HP:0000287
36 increased adipose tissue around the neck64 HP:0000468
37 hypertension64 HP:0000822
38 insulin-resistant diabetes mellitus64 HP:0000831
39 hyperinsulinemia64 HP:0000842
40 hirsutism64 HP:0001007
41 prominent superficial veins64 HP:0001015
42 acute pancreatitis64 HP:0001735
43 hyperglycemia64 HP:0003074
44 hypoalphalipoproteinemia64 HP:0003233
45 reduced subcutaneous adipose tissue64 HP:0003758
46 labial pseudohypertrophy64 HP:0008739
47 adipose tissue loss64 HP:0008887
48 increased intramuscular fat64 HP:0008985
49 increased intraabdominal fat64 HP:0008993
50 loss of truncal subcutaneous adipose tissue64 HP:0009002
51 enlarged peripheral nerve64 HP:0012645

UMLS symptoms related to Lipodystrophy, Familial Partial, 2:


myalgia

MGI Mouse Phenotypes related to Lipodystrophy, Familial Partial, 2 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.7LEP, LMNA, PDE3B
2MP:00053758.5GFPT2, INS, LEP, LMNA, PDE3B
3MP:00053918.3GFPT2, INS, LEP, LMNA

Drugs & Therapeutics for Lipodystrophy, Familial Partial, 2

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Drugs for Lipodystrophy, Familial Partial, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
chenodeoxycholic acidapprovedPhase 234474-25-910133
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 2537
3Gastrointestinal AgentsPhase 28402
4CatharticsPhase 2537
5
Mentholapproved26062216-51-516666
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 StudyActive, not recruitingNCT02404896Phase 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

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Genetic tests related to Lipodystrophy, Familial Partial, 2:

id Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy 227
2 Familial Partial Lipodystrophy Type 224 LMNA

Anatomical Context for Lipodystrophy, Familial Partial, 2

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

36
Liver, Skin, Skeletal muscle, Ovary, Heart

Publications for Lipodystrophy, Familial Partial, 2

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Variations for Lipodystrophy, Familial Partial, 2

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

70 (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

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

Pathways for genes affiliated with Lipodystrophy, Familial Partial, 2

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

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.5INS, LEP
29.5INS, LEP
39.4LEP, PDE3B
4
Show member pathways
9.4INS, IRS4
59.3IRS4, LEP
6
Show member pathways
9.2GFPT2, INS
7
Show member pathways
9.0INS, LEP, PDE3B
8
Show member pathways
8.9INS, IRS4, LEP
9
Show member pathways
8.9INS, IRS4, PDE3B
108.9INS, IRS4, PDE3B
11
Show member pathways
8.9INS, IRS4, PDE3B
128.5INS, IRS4, LEP, LMNA

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

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1glucose homeostasisGO:004259310.1INS, LEP
2glucose metabolic processGO:000600610.1INS, LEP
3negative regulation of lipid catabolic processGO:005099510.1INS, PDE3B
4positive regulation of insulin receptor signaling pathwayGO:004662810.1INS, LEP
5positive regulation of MAPK cascadeGO:004341010.1INS, LEP
6positive regulation of phosphatidylinositol 3-kinase signalingGO:001406810.0INS, LEP
7insulin receptor signaling pathwayGO:000828610.0INS, IRS4
8energy reserve metabolic processGO:00061129.8GFPT2, LEP
9positive regulation of protein kinase B signalingGO:00518979.6INS, LEP
10regulation of protein localization to nucleusGO:19001809.5LEP, LMNA

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

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:00051799.9INS, LEP
2insulin receptor bindingGO:00051589.4INS, IRS4

Sources for Lipodystrophy, Familial Partial, 2

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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