MCID: LPD037
MIFTS: 52

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

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Aliases & Descriptions for Lipodystrophy, Familial Partial, 2:

Name: Lipodystrophy, Familial Partial, 2 50 68 12
Familial Partial Lipodystrophy Type 2 46 23 52 25
Lipoatrophic Diabetes 11 46 13 68
Fpld2 46 23 52 68
Familial Partial Lipodystrophy, Dunnigan Type 46 23 52
Lipodystrophy, Familial Partial, Type 2 50 46
Dunnigan Syndrome 46 52
Fpl2 46 68
Generalized Lipoatrophy Associated with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy and Leukomelanodermic Papules 68
Lipodystrophy, Familial, of Limbs and Lower Trunk 46
 
Lipodystrophy Familial of Limbs and Lower Trunk 68
Lipodystrophy, Familial Partial, Dunnigan Type 46
Familial Partial Lipodystrophy Dunnigan Type 68
Familial Partial Lipodystrophy, Type 2 66
Familial Generalized Lipodystrophy 66
Diabetes Mellitus, Lipoatrophic 37
Lipodystrophy, Reverse Partial 46
Lipoatrophic Diabetes Mellitus 66
Lipodystrophy Reverse Partial 68

Characteristics:

Orphanet epidemiological data:

52
familial partial lipodystrophy type 2:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult; Age of death: adult,elderly

HPO:

62
lipodystrophy, familial partial, 2:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 151660
Disease Ontology11 DOID:11712
NCIt43 C34537
Orphanet52 ORPHA2348
ICD10 via Orphanet29 E88.1
UMLS via Orphanet67 C1720860
MedGen35 C1720860

Summaries for Lipodystrophy, Familial Partial, 2

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OMIM:50 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 pigmentation and integument.

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

NIH Rare Diseases:46 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:68 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.

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 Akt2-Related Familial Partial Lipodystrophy

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

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1aredyld11.8
2familial partial lipodystrophy11.5
3lipodystrophy, congenital generalized, type 211.2
4lipodystrophy, congenital generalized, type 111.1
5acquired generalized lipodystrophy11.1
6pachyonychia congenita10.3LEP, LMNA
7lipodystrophy10.3
8nondystrophic myotonia10.3INS, LEP
9antidepressant type abuse10.3INS, LEP
10scleredema adultorum10.2INS, LEP
11patellofemoral pain syndrome10.2INS, LEP
12dysthymic disorder10.2INS, LEP
13deafness, x-linked 510.2INS, LEP
14alstrom syndrome10.2INS, LEP
15laryngeal carcinoma10.2INS, LEP
16keratoacanthoma10.2INS, LEP
17breast mucoepidermoid carcinoma10.2INS, LEP
18diabetic encephalopathy10.2INS, LEP
19tracheal calcification10.2INS, LEP
20diffuse large b-cell lymphoma10.2INS, LEP
21mucolipidoses10.2INS, LEP
22gestational choriocarcinoma10.2INS, LEP
23short bowel syndrome10.2INS, LEP
24neonatal diabetes mellitus10.1INS, LEP
25chronic myelomonocytic leukemia10.1INS, LEP
26periampullary adenoma10.1INS, LEP
27alveoli adenoma10.1INS, LEP
28angiomatous meningioma10.0INS, LEP
29precursor b lymphoblastic lymphoma/leukemia10.0INS, LEP
30congenital generalized lipodystrophy10.0
31hyperglycemia10.0
32femoral neuropathy10.0INS, LEP
33survival motor neuron spinal muscular atrophy9.9INS, LEP
34lung cancer susceptibility 29.9INS, LEP
35gemistocytic astrocytoma9.9INS, LEP
36hypertriglyceridemia9.8
37ectodermal dysplasia9.8
38hepatitis9.8
39liver disease9.8
40rickets9.8
41retinitis9.8
42pancreatitis9.8
43retinal degeneration9.8
44neuropathy9.8
45nonalcoholic steatohepatitis9.8
46hypertrichosis9.8INS, LEP
47diabetes mellitus, noninsulin-dependent9.7INS, LEP, LMNA
48isthmus cancer9.6INS, LEP
49lipodystrophy, familial partial, 28.0GFPT2, 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 for Lipodystrophy, Familial Partial, 2

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Symptoms by clinical synopsis from OMIM:

151660

Clinical features from OMIM:

151660

Symptoms:

 52 (show all 34)
  • polycystic ovaries
  • round face
  • diabetes mellitus
  • insulin resistance
  • secondary amenorrhea
  • acanthosis nigricans
  • thin skin
  • xanthomatosis
  • hepatic steatosis
  • abnormality of the nail
  • congestive heart failure
  • hypertrophic cardiomyopathy
  • coronary artery disease
  • pancreatitis
  • splenomegaly
  • hypertriglyceridemia
  • generalized hirsutism
  • hepatomegaly
  • atherosclerosis
  • myopathy
  • myalgia
  • loss of subcutaneous adipose tissue in limbs
  • skeletal muscle hypertrophy
  • abnormality of complement system
  • advanced eruption of teeth
  • cranial nerve paralysis
  • aplasia/hypoplasia of the skin
  • lipodystrophy
  • abnormality of skeletal muscle fiber size
  • lipoatrophy
  • eclampsia
  • dysmenorrhea
  • cellulitis
  • glomerulopathy

HPO human phenotypes related to Lipodystrophy, Familial Partial, 2:

(show all 55)
id Description Frequency HPO Source Accession
1 round face hallmark (90%) HP:0000311
2 diabetes mellitus hallmark (90%) HP:0000819
3 insulin resistance hallmark (90%) HP:0000855
4 multiple lipomas hallmark (90%) HP:0001012
5 hepatomegaly hallmark (90%) HP:0002240
6 abnormality of lipid metabolism hallmark (90%) HP:0003119
7 skeletal muscle hypertrophy hallmark (90%) HP:0003712
8 lipoatrophy hallmark (90%) HP:0100578
9 secondary amenorrhea typical (50%) HP:0000869
10 thin skin typical (50%) HP:0000963
11 abnormality of the nail typical (50%) HP:0001597
12 advanced eruption of teeth typical (50%) HP:0006288
13 polycystic ovaries occasional (7.5%) HP:0000147
14 acanthosis nigricans occasional (7.5%) HP:0000956
15 hypertrichosis occasional (7.5%) HP:0000998
16 hepatic steatosis occasional (7.5%) HP:0001397
17 congestive heart failure occasional (7.5%) HP:0001635
18 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
19 coronary artery disease occasional (7.5%) HP:0001677
20 splenomegaly occasional (7.5%) HP:0001744
21 myopathy occasional (7.5%) HP:0003198
22 myalgia occasional (7.5%) HP:0003326
23 abnormality of complement system occasional (7.5%) HP:0005339
24 cranial nerve paralysis occasional (7.5%) HP:0006824
25 toxemia of pregnancy occasional (7.5%) HP:0100603
26 cellulitis occasional (7.5%) HP:0100658
27 glomerulopathy occasional (7.5%) HP:0100820
28 polycystic ovaries HP:0000147
29 increased facial adipose tissue HP:0000287
30 round face HP:0000311
31 increased adipose tissue around the neck HP:0000468
32 hypertension HP:0000822
33 insulin-resistant diabetes mellitus HP:0000831
34 hyperinsulinemia HP:0000842
35 acanthosis nigricans HP:0000956
36 xanthomatosis HP:0000991
37 reduced subcutaneous adipose tissue HP:0001002
38 hirsutism HP:0001007
39 prominent superficial veins HP:0001015
40 hepatic steatosis HP:0001397
41 acute pancreatitis HP:0001735
42 hypertriglyceridemia HP:0002155
43 hepatomegaly HP:0002240
44 atherosclerosis HP:0002621
45 hyperglycemia HP:0003074
46 hypoalphalipoproteinemia HP:0003233
47 myalgia HP:0003326
48 loss of subcutaneous adipose tissue in limbs HP:0003635
49 skeletal muscle hypertrophy HP:0003712
50 labial pseudohypertrophy HP:0008739
51 adipose tissue loss HP:0008887
52 increased intramuscular fat HP:0008985
53 increased intraabdominal fat HP:0008993
54 loss of truncal subcutaneous adipose tissue HP:0009002
55 enlarged peripheral nerve HP:0012645

UMLS symptoms related to Lipodystrophy, Familial Partial, 2:


hepatomegaly, myalgia

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 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

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 225
2 Familial Partial Lipodystrophy Type 223 LMNA

Anatomical Context for Lipodystrophy, Familial Partial, 2

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

34
Liver, Skin, Skeletal muscle, Ovary, Heart

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

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.2LEP, LMNA, PDE3B
2MP:00107718.8INS, LEP, LMNA, PDE3B
3MP:00053918.3GFPT2, INS, LEP, LMNA
4MP:00053757.6GFPT2, INS, LEP, LMNA, PDE3B

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:

68 (show all 16)
id Symbol AA change Variation ID SNP ID
1LMNAp.Gly465AspVAR_009989
2LMNAp.Arg482LeuVAR_009991
3LMNAp.Arg482GlnVAR_009992rs11575937
4LMNAp.Arg482TrpVAR_009993
5LMNAp.Lys486AsnVAR_009994
6LMNAp.Arg527ProVAR_009995
7LMNAp.Arg582HisVAR_009998rs57830985
8LMNAp.Arg133LeuVAR_016913
9LMNAp.Arg60GlyVAR_034706rs28928900
10LMNAp.Arg28TrpVAR_039748rs59914820
11LMNAp.Arg62GlyVAR_039755rs56793579
12LMNAp.Asp230AsnVAR_039770
13LMNAp.Arg399CysVAR_039778
14LMNAp.Ser573LeuVAR_039789
15LMNAp.Arg439CysVAR_070181
16LMNAp.Lys515GluVAR_071968

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

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_170707.3(LMNA): c.178C> G (p.Arg60Gly)single nucleotide variantPathogenicrs28928900GRCh37Chr 1, 156084887: 156084887
2LMNANM_170707.3(LMNA): c.1580G> C (p.Arg527Pro)single nucleotide variantPathogenicrs57520892GRCh37Chr 1, 156106995: 156106995
3LMNANM_170707.3(LMNA): c.1445G> A (p.Arg482Gln)single nucleotide variantPathogenicrs11575937GRCh37Chr 1, 156106776: 156106776
4LMNANM_170707.3(LMNA): c.398G> T (p.Arg133Leu)single nucleotide variantPathogenicrs60864230GRCh37Chr 1, 156100449: 156100449
5LMNANM_005572.3(LMNA): c.1444C> T (p.Arg482Trp)single nucleotide variantPathogenicrs57920071GRCh37Chr 1, 156106775: 156106775
6LMNANM_170707.3(LMNA): c.1445G> T (p.Arg482Leu)single nucleotide variantPathogenicrs11575937GRCh37Chr 1, 156106776: 156106776
7LMNANM_170707.3(LMNA): c.1394G> A (p.Gly465Asp)single nucleotide variantPathogenicrs61282106GRCh37Chr 1, 156106725: 156106725
8LMNANM_170707.3(LMNA): c.1745G> A (p.Arg582His)single nucleotide variantPathogenicrs57830985GRCh37Chr 1, 156108325: 156108325
9LMNANM_170707.3(LMNA): c.688G> A (p.Asp230Asn)single nucleotide variantPathogenicrs61214927GRCh37Chr 1, 156104644: 156104644
10LMNANM_005572.3(LMNA): c.1458G> T (p.Lys486Asn)single nucleotide variantPathogenicrs59981161GRCh37Chr 1, 156106789: 156106789
11LMNANM_170707.3(LMNA): c.1488+5G> Csingle nucleotide variantPathogenicrs267607543GRCh37Chr 1, 156106824: 156106824
12LMNANM_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 11)
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
9.0INS, LEP, PDE3B
7
Show member pathways
8.9INS, IRS4, LEP
8
Show member pathways
8.9INS, IRS4, PDE3B
9
Show member pathways
8.9INS, IRS4, PDE3B
108.5INS, IRS4, LEP, LMNA
11
Show member pathways
8.1GFPT2, INS, IRS4, PDE3B

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
1regulation of protein localization to nucleusGO:190018010.1LEP, LMNA
2positive regulation of insulin receptor signaling pathwayGO:004662810.1INS, LEP
3insulin receptor signaling pathwayGO:00082869.8INS, IRS4
4negative regulation of lipid catabolic processGO:00509959.8INS, PDE3B
5energy reserve metabolic processGO:00061129.7GFPT2, LEP
6positive regulation of protein kinase B signalingGO:00518979.6INS, LEP
7glucose homeostasisGO:00425939.5INS, LEP
8positive regulation of MAPK cascadeGO:00434109.5INS, LEP
9glucose metabolic processGO:00060069.4INS, LEP
10positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.2INS, LEP

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

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:00051799.7INS, LEP
2insulin receptor bindingGO:00051589.4INS, IRS4

Sources for Lipodystrophy, Familial Partial, 2

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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