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FPLD3
MCID: LPD021
MIFTS: 51

Lipodystrophy, Familial Partial, Type 3 (FPLD3)

Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Lipodystrophy, Familial Partial, Type 3

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MalaCards integrated aliases for Lipodystrophy, Familial Partial, Type 3:

Name: Lipodystrophy, Familial Partial, Type 3 57 40
Fpld3 57 12 53 59 75
Familial Partial Lipodystrophy Type 3 12 53 59 15
Familial Partial Lipodystrophy Associated with Pparg Mutations 12 53 75
Pparg-Related Familial Partial Lipodystrophy 12 53 59
Pparg-Related Fpld 12 53 59
Lipodystrophy, Familial Partial, Associated with Pparg Mutations 57 53
Familial Partial Lipodystrophy 3 29 6
Familial Partial Lipodystrophy, Type 3 73
Insulin Resistance, Severe, Digenic 57
Lipodystrophy, Familial Partial, 3 75

Characteristics:

Orphanet epidemiological data:

59
pparg-related familial partial lipodystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset of major clinical features in young adulthood
onset of insulin resistance may occur in childhood


HPO:

32
lipodystrophy, familial partial, type 3:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Skin diseases Endocrine diseases Cardiovascular diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare skin diseases
Rare endocrine diseases


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Summaries for Lipodystrophy, Familial Partial, Type 3

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UniProtKB/Swiss-Prot : 75 Lipodystrophy, familial partial, 3: A form of lipodystrophy characterized by marked loss of subcutaneous fat from the extremities. Facial adipose tissue may be increased, decreased or normal. Affected individuals show an increased preponderance of insulin resistance, diabetes mellitus and dyslipidemia.

MalaCards based summary : Lipodystrophy, Familial Partial, Type 3, also known as fpld3, is related to diabetes mellitus, noninsulin-dependent and familial partial lipodystrophy. An important gene associated with Lipodystrophy, Familial Partial, Type 3 is PPARG (Peroxisome Proliferator Activated Receptor Gamma), and among its related pathways/superpathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Glucose / Energy Metabolism. Affiliated tissues include skin, ovary and skeletal muscle, and related phenotypes are hypertension and splenomegaly

Disease Ontology : 12 A familial partial lipodystrophy characterized by autosomal dominant inheritance that has material basis in mutation in the PPARG gene on chromosome 3p25.

Description from OMIM: 604367
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Related Diseases for Lipodystrophy, Familial Partial, Type 3

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Diseases in the Familial Partial Lipodystrophy family:

Lipodystrophy, Familial Partial, Type 2 Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Familial Partial, Type 1 Lipodystrophy, Partial, Acquired
Lipodystrophy, Familial Partial, Type 4 Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Familial Partial, Type 6 Familial Partial Lipodystrophy Due to Akt2 Mutations

Diseases related to Lipodystrophy, Familial Partial, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, noninsulin-dependent 31.9 LMNA PPARA PPARD PPARG
2 familial partial lipodystrophy 30.2 AGPAT2 BSCL2 LMNA PPARG
3 lipodystrophy, familial partial, type 1 10.2 LMNA PPARG
4 lipodystrophy, familial partial, type 2 10.1 AGPAT2 LMNA
5 berardinelli-seip congenital lipodystrophy 10.1 AGPAT2 BSCL2
6 spastic paraplegia 17, autosomal dominant 10.1 AGPAT2 BSCL2
7 generalized resistance to thyroid hormone 10.0 THRB TXNRD2
8 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.0 AGPAT2 BSCL2 LMNA
9 lipodystrophy, congenital generalized, type 1 10.0 AGPAT2 BSCL2 LMNA
10 congenital generalized lipodystrophy 10.0 AGPAT2 BSCL2 LMNA
11 lipodystrophy, congenital generalized, type 4 10.0 AGPAT2 BSCL2 LMNA
12 autosomal dominant non-syndromic intellectual disability 2 10.0 PPARA PPARG
13 autosomal dominant non-syndromic intellectual disability 3 10.0 PPARA PPARG
14 lipodystrophy, congenital generalized, type 3 10.0 AGPAT2 BSCL2
15 graves disease 1 10.0 THRB TXNRD2
16 alcoholic cardiomyopathy 10.0 PPARA PPARG
17 thyroid hormone resistance, generalized, autosomal dominant 10.0 THRB TXNRD2
18 acanthosis nigricans 10.0 LMNA PPARG
19 idiopathic edema 9.9 PPARA PPARG
20 lipodystrophy, congenital generalized, type 2 9.9 AGPAT2 BSCL2 LMNA PPARG
21 complete generalized lipodystrophy 9.9 AGPAT2 BSCL2 LMNA PPARG
22 acquired generalized lipodystrophy 9.9 AGPAT2 BSCL2 LMNA PPARG
23 thyroid gland disease 9.9 THRB TXNRD2
24 arrhythmogenic right ventricular cardiomyopathy 9.9 LMNA PPARA PPARG
25 body mass index quantitative trait locus 11 9.7 LMNA PPARA PPARD PPARG

Graphical network of the top 20 diseases related to Lipodystrophy, Familial Partial, Type 3:



Diseases related to Lipodystrophy, Familial Partial, Type 3
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Symptoms & Phenotypes for Lipodystrophy, Familial Partial, Type 3

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Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension
prominent superficial veins

Skin Nails Hair Skin:
acanthosis nigricans
prominent superficial veins

Abdomen Liver:
hepatic steatosis
cirrhosis

Skin Nails Hair Hair:
hirsutism

Head And Neck Face:
normal or decreased facial adipose tissue

Genitourinary Internal Genitalia Female:
polycystic ovary syndrome in some

Laboratory Abnormalities:
hyperuricemia
hyperglycemia
increased serum triglycerides
decreased hdl cholesterol

Endocrine Features:
primary amenorrhea
hyperinsulinemia
insulin-resistant diabetes mellitus
oligomenorrhea

Prenatal Manifestations Maternal:
preeclampsia
gestational diabetes

Muscle Soft Tissue:
loss of subcutaneous adipose tissue from extremities
loss of subcutaneous adipose tissue from gluteal region
some subcutaneous adipose tissue may remain on upper arms
normal or increased abdominal adipose tissue
normal or decreased facial and neck adipose tissue
more
Head And Neck Neck:
normal adipose tissue around neck


Clinical features from OMIM:

604367

Human phenotypes related to Lipodystrophy, Familial Partial, Type 3:

59 32 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 obligate (100%) Obligate (100%) HP:0000822
2 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
3 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
4 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
5 lipoatrophy 59 32 obligate (100%) Obligate (100%) HP:0100578
6 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
7 hypertriglyceridemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002155
8 hyperuricemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002149
9 acanthosis nigricans 59 32 occasional (7.5%) Occasional (29-5%) HP:0000956
10 thin skin 59 32 frequent (33%) Frequent (79-30%) HP:0000963
11 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
12 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
13 primary amenorrhea 59 32 very rare (1%) Very rare (<4-1%) HP:0000786
14 secondary amenorrhea 59 32 frequent (33%) Frequent (79-30%) HP:0000869
15 hepatic steatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001397
16 cirrhosis 59 32 very rare (1%) Very rare (<4-1%) HP:0001394
17 pancreatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001733
18 myalgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003326
19 polycystic ovaries 59 32 occasional (7.5%) Occasional (29-5%) HP:0000147
20 dysmenorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0100607
21 maternal diabetes 59 32 occasional (7.5%) Occasional (29-5%) HP:0009800
22 insulin-resistant diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000831
23 xanthomatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000991
24 calf muscle pseudohypertrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003707
25 loss of subcutaneous adipose tissue in limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0003635
26 abnormality of skeletal muscle fiber size 59 32 occasional (7.5%) Occasional (29-5%) HP:0012084
27 eclampsia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100601
28 prominent veins on trunk 59 32 very rare (1%) Very rare (<4-1%) HP:0007457
29 loss of facial adipose tissue 59 32 occasional (7.5%) Occasional (29-5%) HP:0000292
30 oligomenorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000876
31 marked muscular hypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0009042
32 diabetes mellitus 59 Very frequent (99-80%)
33 hyperinsulinemia 32 HP:0000842
34 lipodystrophy 32 HP:0009125
35 abnormality of the face 32 HP:0000271
36 aplasia/hypoplasia of the skin 59 Very frequent (99-80%)
37 abnormality of the musculature 32 HP:0003011
38 abnormality of the neck 32 HP:0000464
39 preeclampsia 32 HP:0100602
40 skeletal muscle hypertrophy 59 Very frequent (99-80%)
41 atherosclerosis 59 Frequent (79-30%)
42 prominent superficial veins 32 HP:0001015
43 insulin resistance 59 Obligate (100%)
44 hirsutism 32 HP:0001007
45 hyperglycemia 32 HP:0003074
46 coronary artery disease 59 Occasional (29-5%)
47 reduced subcutaneous adipose tissue 32 HP:0003758
48 loss of gluteal subcutaneous adipose tissue 32 HP:0009017
49 coronary artery atherosclerosis 32 occasional (7.5%) HP:0001677
50 decreased hdl cholesterol concentration 32 HP:0003233

MGI Mouse Phenotypes related to Lipodystrophy, Familial Partial, Type 3:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 BSCL2 LMNA NR2E1 PPARA PPARD PPARG
2 homeostasis/metabolism MP:0005376 10.11 AGPAT2 BSCL2 LMNA PPARA PPARD PPARG
3 adipose tissue MP:0005375 10.1 AGPAT2 BSCL2 LMNA NR2E1 PPARA PPARD
4 growth/size/body region MP:0005378 10.1 AGPAT2 BSCL2 LMNA NR2E1 PPARA PPARD
5 behavior/neurological MP:0005386 10.09 AGPAT2 BSCL2 LMNA NR2E1 PPARD PPARG
6 cardiovascular system MP:0005385 10.08 BSCL2 LMNA NR2E1 PPARA PPARG THRB
7 hematopoietic system MP:0005397 10.02 AGPAT2 BSCL2 LMNA PPARD PPARG THRB
8 digestive/alimentary MP:0005381 9.99 AGPAT2 BSCL2 LMNA PPARD PPOX THRB
9 immune system MP:0005387 9.98 AGPAT2 BSCL2 LMNA PPARA PPARD PPARG
10 mortality/aging MP:0010768 9.97 AGPAT2 BSCL2 LMNA PPARA PPARD PPARG
11 liver/biliary system MP:0005370 9.91 AGPAT2 BSCL2 LMNA PPARA PPARD PPARG
12 integument MP:0010771 9.88 AGPAT2 BSCL2 LMNA PPARA PPARD PPARG
13 muscle MP:0005369 9.73 LMNA PPARA PPARD PPARG THRB TXNRD2
14 renal/urinary system MP:0005367 9.55 AGPAT2 BSCL2 LMNA PPARG PPOX
15 reproductive system MP:0005389 9.43 BSCL2 LMNA NR2E1 PPARD PPARG THRB
16 skeleton MP:0005390 9.1 AGPAT2 BSCL2 LMNA PPARD PPARG THRB
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Drugs & Therapeutics for Lipodystrophy, Familial Partial, Type 3

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Search Clinical Trials , NIH Clinical Center for Lipodystrophy, Familial Partial, Type 3

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Genetic Tests for Lipodystrophy, Familial Partial, Type 3

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Genetic tests related to Lipodystrophy, Familial Partial, Type 3:

# Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy 3 29 PPARG
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Anatomical Context for Lipodystrophy, Familial Partial, Type 3

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MalaCards organs/tissues related to Lipodystrophy, Familial Partial, Type 3:

41
Skin, Ovary, Skeletal Muscle, Heart, Thyroid
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Publications for Lipodystrophy, Familial Partial, Type 3

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Articles related to Lipodystrophy, Familial Partial, Type 3:

# Title Authors Year
1
Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3. ( 26119484 )
2015
2
Familial partial lipodystrophy type 3: a new mutation on the PPARG gene. ( 26158656 )
2015
3
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
4
Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3). ( 16412238 )
2006
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Variations for Lipodystrophy, Familial Partial, Type 3

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UniProtKB/Swiss-Prot genetic disease variations for Lipodystrophy, Familial Partial, Type 3:

75
# Symbol AA change Variation ID SNP ID
1 PPARG p.Phe388Leu VAR_022700 rs72551363
2 PPARG p.Arg425Cys VAR_022701 rs72551364

ClinVar genetic disease variations for Lipodystrophy, Familial Partial, Type 3:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 PPARG NM_015869.4(PPARG): c.1484C> T (p.Pro495Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121909244 GRCh37 Chromosome 3, 12475610: 12475610
2 PPARG NM_015869.4(PPARG): c.1484C> T (p.Pro495Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121909244 GRCh38 Chromosome 3, 12434111: 12434111
3 PPARG NM_138712.3(PPARG): c.868G> A (p.Val290Met) single nucleotide variant Pathogenic rs72551362 GRCh37 Chromosome 3, 12458335: 12458335
4 PPARG NM_138712.3(PPARG): c.868G> A (p.Val290Met) single nucleotide variant Pathogenic rs72551362 GRCh38 Chromosome 3, 12416836: 12416836
5 PPARG NM_138712.3(PPARG): c.1080T> A (p.Phe360Leu) single nucleotide variant Pathogenic rs72551363 GRCh37 Chromosome 3, 12458547: 12458547
6 PPARG NM_138712.3(PPARG): c.1080T> A (p.Phe360Leu) single nucleotide variant Pathogenic rs72551363 GRCh38 Chromosome 3, 12417048: 12417048
7 PPARG NM_138712.3(PPARG): c.1189C> T (p.Arg397Cys) single nucleotide variant Pathogenic rs72551364 GRCh37 Chromosome 3, 12475399: 12475399
8 PPARG NM_138712.3(PPARG): c.1189C> T (p.Arg397Cys) single nucleotide variant Pathogenic rs72551364 GRCh38 Chromosome 3, 12433900: 12433900
9 PPARG NM_138712.3(PPARG): c.484T> A (p.Cys162Ser) single nucleotide variant Pathogenic rs121909245 GRCh37 Chromosome 3, 12434200: 12434200
10 PPARG NM_138712.3(PPARG): c.484T> A (p.Cys162Ser) single nucleotide variant Pathogenic rs121909245 GRCh38 Chromosome 3, 12392701: 12392701
11 PPARG NM_138712.3(PPARG): c.496C> T (p.Arg166Trp) single nucleotide variant Pathogenic rs121909246 GRCh37 Chromosome 3, 12434212: 12434212
12 PPARG NM_138712.3(PPARG): c.496C> T (p.Arg166Trp) single nucleotide variant Pathogenic rs121909246 GRCh38 Chromosome 3, 12392713: 12392713
13 BSCL2 NM_032667.6(BSCL2): c.1125C> A (p.Val375=) single nucleotide variant Likely pathogenic rs1057516190 GRCh37 Chromosome 11, 62457911: 62457911
14 BSCL2 NM_032667.6(BSCL2): c.1125C> A (p.Val375=) single nucleotide variant Likely pathogenic rs1057516190 GRCh38 Chromosome 11, 62690439: 62690439
15 PPARG NM_015869.4(PPARG): c.470A> G (p.Glu157Gly) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 12422980: 12422980
16 PPARG NM_015869.4(PPARG): c.470A> G (p.Glu157Gly) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 12381481: 12381481
17 PPARG NM_015869.4(PPARG): c.581G> A (p.Arg194Gln) single nucleotide variant Likely pathogenic rs148195788 GRCh38 Chromosome 3, 12392714: 12392714
18 PPARG NM_015869.4(PPARG): c.581G> A (p.Arg194Gln) single nucleotide variant Likely pathogenic rs148195788 GRCh37 Chromosome 3, 12434213: 12434213
19 PPARG NM_015869.4(PPARG): c.635G> A (p.Arg212Gln) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 12405897: 12405897
20 PPARG NM_015869.4(PPARG): c.635G> A (p.Arg212Gln) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 12447396: 12447396
21 PPARG NM_015869.4(PPARG): c.971T> C (p.Ile324Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 12416855: 12416855
22 PPARG NM_015869.4(PPARG): c.971T> C (p.Ile324Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 12458354: 12458354
23 PPARG NM_138712.3(PPARG): c.930_934delCTTGA (p.Asp310Glufs) deletion Pathogenic GRCh37 Chromosome 3, 12458397: 12458401
24 PPARG NM_138712.3(PPARG): c.930_934delCTTGA (p.Asp310Glufs) deletion Pathogenic GRCh38 Chromosome 3, 12416898: 12416902
25 PPARG NM_015869.4(PPARG): c.1352T> C (p.Leu451Pro) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 12433979: 12433979
26 PPARG NM_015869.4(PPARG): c.1352T> C (p.Leu451Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 12475478: 12475478
27 PPARG NM_138712.3(PPARG): c.1277delC (p.Pro426Leufs) deletion Pathogenic rs770557781 GRCh37 Chromosome 3, 12475487: 12475487
28 PPARG NM_138712.3(PPARG): c.1277delC (p.Pro426Leufs) deletion Pathogenic rs770557781 GRCh38 Chromosome 3, 12433988: 12433988
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Expression for Lipodystrophy, Familial Partial, Type 3

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Search GEO for disease gene expression data for Lipodystrophy, Familial Partial, Type 3.
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Pathways for Lipodystrophy, Familial Partial, Type 3

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Pathways related to Lipodystrophy, Familial Partial, Type 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) 66
Show member pathways
 12.44 AGPAT2 PPARA PPARD PPARG
2
Glucose / Energy Metabolism 4
12.11 AGPAT2 BSCL2 PPARG TXNRD2
3
Development Ligand-independent activation of ESR1 and ESR2 22
Show member pathways
 11.9 PPARA PPARD PPARG
4
Nuclear Receptor transcription pathway 66
Show member pathways
 11.31 NR2E1 PPARA PPARD PPARG THRB
5
PPAR signaling pathway 37
11.3 PPARA PPARD PPARG
6
Adipogenesis 1
11.22 AGPAT2 BSCL2 LMNA PPARA PPARD PPARG
7
Nuclear Receptors in Lipid Metabolism and Toxicity 1
10.88 PPARA PPARD PPARG
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GO Terms for Lipodystrophy, Familial Partial, Type 3

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Cellular components related to Lipodystrophy, Familial Partial, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor complex GO:0090575 8.92 PPARA PPARD PPARG THRB

Biological processes related to Lipodystrophy, Familial Partial, Type 3 according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.91 PPARA PPARD PPARG THRB
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.91 NR2E1 PPARA PPARD PPARG THRB
3 lipid metabolic process GO:0006629 9.83 AGPAT2 BSCL2 PPARA PPARD PPARG
4 heart development GO:0007507 9.8 PPARA PPARD PPARG
5 transcription, DNA-templated GO:0006351 9.8 PPARD PPARG THRB
6 fatty acid metabolic process GO:0006631 9.77 PPARA PPARD PPARG
7 transcription initiation from RNA polymerase II promoter GO:0006367 9.77 NR2E1 PPARA PPARD PPARG THRB
8 regulation of lipid metabolic process GO:0019216 9.67 PPARA PPARD PPARG
9 positive regulation of fat cell differentiation GO:0045600 9.64 PPARD PPARG
10 regulation of circadian rhythm GO:0042752 9.64 PPARA PPARG
11 placenta development GO:0001890 9.63 PPARD PPARG
12 negative regulation of smooth muscle cell proliferation GO:0048662 9.62 PPARD PPARG
13 hormone-mediated signaling pathway GO:0009755 9.62 PPARA PPARD PPARG THRB
14 response to vitamin A GO:0033189 9.58 PPARD PPARG
15 negative regulation of collagen biosynthetic process GO:0032966 9.58 PPARD PPARG
16 regulation of fat cell differentiation GO:0045598 9.57 PPARD PPARG
17 fatty acid oxidation GO:0019395 9.56 PPARD PPARG
18 fatty acid transport GO:0015908 9.55 PPARA PPARD
19 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.54 PPARA PPARG
20 negative regulation of pri-miRNA transcription by RNA polymerase II GO:1902894 9.52 PPARA PPARD
21 positive regulation of fatty acid oxidation GO:0046321 9.48 PPARA PPARG
22 negative regulation of sequestering of triglyceride GO:0010891 9.46 PPARA PPARG
23 intracellular receptor signaling pathway GO:0030522 9.46 PPARA PPARD PPARG THRB
24 negative regulation of cholesterol storage GO:0010887 9.43 PPARA PPARD PPARG
25 negative regulation of receptor biosynthetic process GO:0010871 9.4 PPARA PPARG
26 response to lipid GO:0033993 9.26 PPARA PPARD PPARG THRB
27 steroid hormone mediated signaling pathway GO:0043401 9.02 NR2E1 PPARA PPARD PPARG THRB
28 positive regulation of transcription by RNA polymerase II GO:0045944 10 NR2E1 PPARA PPARD PPARG THRB
29 multicellular organism development GO:0007275 10 NR2E1 PPARA PPARD PPARG THRB

Molecular functions related to Lipodystrophy, Familial Partial, Type 3 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.95 NR2E1 PPARA PPARD PPARG THRB
2 zinc ion binding GO:0008270 9.92 NR2E1 PPARA PPARD PPARG THRB
3 sequence-specific DNA binding GO:0043565 9.88 NR2E1 PPARA PPARD PPARG THRB
4 transcription factor binding GO:0008134 9.81 PPARA PPARD PPARG THRB
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.8 PPARA PPARD PPARG THRB
6 signaling receptor activity GO:0038023 9.73 PPARA PPARD PPARG THRB
7 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.71 PPARA PPARD PPARG
8 proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001078 9.71 NR2E1 PPARA PPARD PPARG
9 drug binding GO:0008144 9.63 PPARA PPARD PPARG
10 transcription regulatory region sequence-specific DNA binding GO:0000976 9.56 PPARA PPARD PPARG THRB
11 RNA polymerase II repressing transcription factor binding GO:0001103 9.54 PPARA PPARD PPARG
12 fatty acid binding GO:0005504 9.5 PPARA PPARD PPARG
13 nuclear receptor transcription coactivator activity GO:0030374 9.46 PPARA PPARD PPARG THRB
14 nuclear receptor activity GO:0004879 9.26 PPARA PPARD PPARG THRB
15 steroid hormone receptor activity GO:0003707 9.02 NR2E1 PPARA PPARD PPARG THRB
Sources

Sources for Lipodystrophy, Familial Partial, Type 3

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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