FPLD3
MCID: LPD021
MIFTS: 45

Lipodystrophy, Familial Partial, Type 3 (FPLD3)

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

Aliases & Classifications for Lipodystrophy, Familial Partial, Type 3

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

Name: Lipodystrophy, Familial Partial, Type 3 57 39
Fpld3 57 12 20 58 72
Familial Partial Lipodystrophy Type 3 12 20 58 15
Familial Partial Lipodystrophy Associated with Pparg Mutations 12 20 72
Pparg-Related Familial Partial Lipodystrophy 12 20 58
Pparg-Related Fpld 12 20 58
Lipodystrophy, Familial Partial, Associated with Pparg Mutations 57 20
Familial Partial Lipodystrophy 3 29 6
Familial Partial Lipodystrophy, Type 3 70
Insulin Resistance, Severe, Digenic 57
Lipodystrophy, Familial Partial, 3 72

Characteristics:

Orphanet epidemiological data:

58
pparg-related familial partial lipodystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
lipodystrophy, familial partial, type 3:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Rare endocrine diseases


Summaries for Lipodystrophy, Familial Partial, Type 3

UniProtKB/Swiss-Prot : 72 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 type 2 diabetes mellitus and mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome. An important gene associated with Lipodystrophy, Familial Partial, Type 3 is PPARG (Peroxisome Proliferator Activated Receptor Gamma), and among its related pathways/superpathways are Glucose / Energy Metabolism and Adipogenesis. Affiliated tissues include skeletal muscle, heart and ovary, and related phenotypes are hypertension and lipoatrophy

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.

More information from OMIM: 604367 PS151660

Related Diseases for Lipodystrophy, Familial Partial, Type 3

Diseases in the Familial Partial Lipodystrophy family:

Lipodystrophy, Familial Partial, Type 2 Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Familial Partial, Type 7 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 31)
# Related Disease Score Top Affiliating Genes
1 type 2 diabetes mellitus 31.5 PPP1R3A PPARG LMNA BSCL2 AGPAT2
2 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 29.8 PPARG LMNA BSCL2 AGPAT2
3 familial partial lipodystrophy 29.4 PPARG LMNA CIDEC BSCL2 AGPAT2
4 neuronopathy, distal hereditary motor, type vc 10.2 HNRNPUL2-BSCL2 BSCL2
5 spastic paraplegia 17 10.2 HNRNPUL2-BSCL2 BSCL2
6 encephalopathy, progressive, with or without lipodystrophy 10.2 HNRNPUL2-BSCL2 BSCL2
7 lipodystrophy, congenital generalized, type 4 10.1 BSCL2 AGPAT2
8 lipodystrophy, congenital generalized, type 3 10.1 BSCL2 AGPAT2
9 pre-eclampsia 10.1
10 eclampsia 10.1
11 spastic paraplegia 17, autosomal dominant 10.1 HNRNPUL2-BSCL2 BSCL2
12 lipodystrophy, congenital generalized, type 1 10.1 BSCL2 AGPAT2
13 donohue syndrome 10.1 BSCL2 AGPAT2
14 umbilical hernia 10.1 BSCL2 AGPAT2
15 acanthosis nigricans 10.0 PPARG LMNA
16 lipodystrophy, familial partial, type 4 10.0 LMNA CIDEC
17 monogenic diabetes 10.0 LMNA HNRNPUL2-BSCL2 BSCL2
18 berardinelli-seip congenital lipodystrophy 10.0 HNRNPUL2-BSCL2 BSCL2 AGPAT2
19 neuronopathy, distal hereditary motor, type va 10.0 HNRNPUL2-BSCL2 BSCL2 AGPAT2
20 pigmentation disease 9.9 LMNA BSCL2 AGPAT2
21 hypertriglyceridemia, familial 9.9
22 adiposis dolorosa 9.9 CIDEC BSCL2 AGPAT2
23 lipodystrophy, familial partial, type 1 9.7 LMNA CIDEC BSCL2 AGPAT2
24 acquired generalized lipodystrophy 9.7 LMNA CIDEC BSCL2 AGPAT2
25 charcot-marie-tooth disease, axonal, type 2e 9.7 LMNA HNRNPUL2-BSCL2 BSCL2
26 maturity-onset diabetes of the young 9.6 ZNHIT3 PPARG EXOSC4
27 complete generalized lipodystrophy 9.5 PPARG LMNA CIDEC BSCL2 AGPAT2
28 lipodystrophy, familial partial, type 2 9.5 PPARG LMNA CIDEC BSCL2 AGPAT2
29 lipodystrophy, congenital generalized, type 2 9.4 PPARG LMNA HNRNPUL2-BSCL2 CIDEC BSCL2 AGPAT2
30 lipodystrophy, familial partial, type 5 9.2 PCYT1A LMNA CIDEC BSCL2 AGPAT2
31 congenital generalized lipodystrophy 8.9 PPARG PCYT1A LMNA HNRNPUL2-BSCL2 CIDEC BSCL2

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



Diseases related to Lipodystrophy, Familial Partial, Type 3

Symptoms & Phenotypes for Lipodystrophy, Familial Partial, Type 3

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

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 58 31 obligate (100%) Obligate (100%) HP:0000822
2 lipoatrophy 58 31 obligate (100%) Obligate (100%) HP:0100578
3 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
4 hypertriglyceridemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002155
5 xanthomatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000991
6 loss of subcutaneous adipose tissue in limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0003635
7 insulin-resistant diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000831
8 secondary amenorrhea 58 31 frequent (33%) Frequent (79-30%) HP:0000869
9 thin skin 58 31 frequent (33%) Frequent (79-30%) HP:0000963
10 marked muscular hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009042
11 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
12 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
13 hyperuricemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002149
14 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
15 hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001397
16 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
17 myalgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003326
18 polycystic ovaries 58 31 occasional (7.5%) Occasional (29-5%) HP:0000147
19 generalized hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002230
20 acanthosis nigricans 58 31 occasional (7.5%) Occasional (29-5%) HP:0000956
21 dysmenorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0100607
22 maternal diabetes 58 31 occasional (7.5%) Occasional (29-5%) HP:0009800
23 pancreatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001733
24 coronary artery atherosclerosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001677
25 abnormality of skeletal muscle fiber size 58 31 occasional (7.5%) Occasional (29-5%) HP:0012084
26 eclampsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100601
27 oligomenorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000876
28 loss of facial adipose tissue 58 31 occasional (7.5%) Occasional (29-5%) HP:0000292
29 calf muscle pseudohypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003707
30 primary amenorrhea 58 31 very rare (1%) Very rare (<4-1%) HP:0000786
31 cirrhosis 58 31 very rare (1%) Very rare (<4-1%) HP:0001394
32 prominent veins on trunk 58 31 very rare (1%) Very rare (<4-1%) HP:0007457
33 diabetes mellitus 58 Very frequent (99-80%)
34 hyperinsulinemia 31 HP:0000842
35 lipodystrophy 31 HP:0009125
36 abnormality of the face 31 HP:0000271
37 aplasia/hypoplasia of the skin 58 Very frequent (99-80%)
38 abnormality of the neck 31 HP:0000464
39 skeletal muscle hypertrophy 58 Very frequent (99-80%)
40 decreased hdl cholesterol concentration 31 HP:0003233
41 atherosclerosis 58 Frequent (79-30%)
42 insulin resistance 58 Obligate (100%)
43 abnormality of the musculature 31 HP:0003011
44 hirsutism 31 HP:0001007
45 preeclampsia 31 HP:0100602
46 hyperglycemia 31 HP:0003074
47 prominent superficial veins 31 HP:0001015
48 reduced subcutaneous adipose tissue 31 HP:0003758
49 loss of gluteal subcutaneous adipose tissue 31 HP:0009017

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Vascular:
hypertension
prominent superficial veins

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

Skin Nails Hair Skin:
acanthosis nigricans
prominent superficial veins

Prenatal Manifestations Maternal:
preeclampsia
gestational diabetes

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

Abdomen Liver:
hepatic steatosis
cirrhosis

Skin Nails Hair Hair:
hirsutism

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 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.43 AGPAT2 BSCL2 CIDEC LMNA PPARG PPP1R3A
2 liver/biliary system MP:0005370 9.02 AGPAT2 BSCL2 CIDEC LMNA PPARG

Drugs & Therapeutics for Lipodystrophy, Familial Partial, Type 3

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

Genetic Tests for Lipodystrophy, Familial Partial, Type 3

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

# Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy 3 29 PPARG

Anatomical Context for Lipodystrophy, Familial Partial, Type 3

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

40
Skeletal Muscle, Heart, Ovary, Adipocyte

Publications for Lipodystrophy, Familial Partial, Type 3

Articles related to Lipodystrophy, Familial Partial, Type 3:

(show all 30)
# Title Authors PMID Year
1
PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. 57 6
12453919 2002
2
A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. 57 6
11788685 2002
3
Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension. 57 6
10622252 1999
4
Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma. 6 61
17299075 2007
5
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes. 6
25157153 2014
6
Peroxisome proliferator-activated receptor-γ protects against vascular aging. 6
22461176 2012
7
Peroxisome proliferator-activated receptor-gamma C190S mutation causes partial lipodystrophy. 6
17356052 2007
8
Hypertension and abnormal fat distribution but not insulin resistance in mice with P465L PPARgamma. 6
15254591 2004
9
Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma. 57
12663460 2003
10
PPARgamma in Metabolism, Immunity, and Cancer: Unified and Diverse Mechanisms of Action. 61
33716977 2021
11
The novel loss of function Ile354Val mutation in PPARG causes familial partial lipodystrophy. 61
31863320 2020
12
Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants. 61
30742913 2019
13
Natural helix 9 mutants of PPARγ differently affect its transcriptional activity. 61
30595551 2019
14
P465L-PPARγ mutation confers partial resistance to the hypolipidaemic action of fibrates. 61
29790245 2018
15
A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations. 61
29622583 2018
16
PPARgamma Deficiency Counteracts Thymic Senescence. 61
29163553 2017
17
Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3. 61
26119484 2016
18
PPARγ mutations, lipodystrophy and diabetes. 61
25460295 2014
19
Peroxisome proliferator-activated receptor-γ mutations responsible for lipodystrophy with severe hypertension activate the cellular renin-angiotensin system. 61
23393388 2013
20
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 γ. 61
22559930 2012
21
Clinical and molecular characterization of a severe form of partial lipodystrophy expanding the phenotype of PPARγ deficiency. 61
22750678 2012
22
Impaired peroxisome proliferator-activated receptor gamma function through mutation of a conserved salt bridge (R425C) in familial partial lipodystrophy. 61
17312272 2007
23
Quantitative and qualitative differences in subcutaneous adipose tissue stores across lipodystrophy types shown by magnetic resonance imaging. 61
17352814 2007
24
A frameshift mutation in peroxisome-proliferator-activated receptor-gamma in familial partial lipodystrophy subtype 3 (FPLD3; MIM 604367). 61
16965332 2006
25
Semi-automated segmentation and quantification of adipose tissue in calf and thigh by MRI: a preliminary study in patients with monogenic metabolic syndrome. 61
16945131 2006
26
Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3). 61
16412238 2006
27
Diseases of adipose tissue: genetic and acquired lipodystrophies. 61
16246048 2005
28
Genetic and physiological insights into the metabolic syndrome. 61
15890790 2005
29
Lessons from human mutations in PPARgamma. 61
15711581 2005
30
A single-base mutation in the peroxisome proliferator-activated receptor gamma4 promoter associated with altered in vitro expression and partial lipodystrophy. 61
15531525 2004

Variations for Lipodystrophy, Familial Partial, Type 3

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

6 (show all 36)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PPARG NM_001330615.1(PPARG):c.735+10967T>A SNV Pathogenic 8141 rs72551363 GRCh37: 3:12458547-12458547
GRCh38: 3:12417048-12417048
2 PPARG NM_005037.5(PPARG):c.1189C>T (p.Arg397Cys) SNV Pathogenic 8142 rs72551364 GRCh37: 3:12475399-12475399
GRCh38: 3:12433900-12433900
3 PPARG NM_005037.5(PPARG):c.484T>A (p.Cys162Ser) SNV Pathogenic 8143 rs121909245 GRCh37: 3:12434200-12434200
GRCh38: 3:12392701-12392701
4 PPARG NM_005037.5(PPARG):c.496C>T (p.Arg166Trp) SNV Pathogenic 8144 rs121909246 GRCh37: 3:12434212-12434212
GRCh38: 3:12392713-12392713
5 PPARG NM_001330615.1(PPARG):c.735+10755G>A SNV Pathogenic 8137 rs72551362 GRCh37: 3:12458335-12458335
GRCh38: 3:12416836-12416836
6 PPARG NM_001330615.1(PPARG):c.735+10817_735+10821del Microsatellite Pathogenic 436400 rs1553650477 GRCh37: 3:12458392-12458396
GRCh38: 3:12416893-12416897
7 PPARG NM_015869.4(PPARG):c.1361del (p.Pro454fs) Deletion Pathogenic 436405 rs770557781 GRCh37: 3:12475485-12475485
GRCh38: 3:12433986-12433986
8 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.1125C>A (p.Val375=) SNV Likely pathogenic 369947 rs1057516190 GRCh37: 11:62457911-62457911
GRCh38: 11:62690439-62690439
9 PPARG NM_015869.4(PPARG):c.470A>G (p.Glu157Gly) SNV Likely pathogenic 436406 rs1553643326 GRCh37: 3:12422980-12422980
GRCh38: 3:12381481-12381481
10 LOC114803475 , PPARG NM_015869.4(PPARG):c.635G>A (p.Arg212Gln) SNV Likely pathogenic 436398 rs1553647989 GRCh37: 3:12447396-12447396
GRCh38: 3:12405897-12405897
11 PPARG NM_015869.4(PPARG):c.1352T>C (p.Leu451Pro) SNV Likely pathogenic 436404 rs1553653993 GRCh37: 3:12475478-12475478
GRCh38: 3:12433979-12433979
12 PPARG NM_015869.4(PPARG):c.971T>C (p.Ile324Thr) SNV Likely pathogenic 436399 rs1378972597 GRCh37: 3:12458354-12458354
GRCh38: 3:12416855-12416855
13 LOC114803475 , PPARG NM_138711.6(PPARG):c.614_616delinsC (p.Glu205fs) Indel Likely pathogenic 976149 GRCh37: 3:12447465-12447467
GRCh38: 3:12405966-12405968
14 LOC114803475 , PPARG NM_138711.6(PPARG):c.629G>C (p.Arg210Pro) SNV Likely pathogenic 976317 GRCh37: 3:12447480-12447480
GRCh38: 3:12405981-12405981
15 LOC114803475 , PPARG NM_138711.6(PPARG):c.614_615del (p.Glu205fs) Microsatellite Likely pathogenic 983029 GRCh37: 3:12447463-12447464
GRCh38: 3:12405964-12405965
16 PPARG NM_015869.4(PPARG):c.1484C>T (p.Pro495Leu) SNV Likely pathogenic 8136 rs121909244 GRCh37: 3:12475610-12475610
GRCh38: 3:12434111-12434111
17 PPARG NM_015869.4(PPARG):c.581G>A (p.Arg194Gln) SNV Likely pathogenic 436397 rs148195788 GRCh37: 3:12434213-12434213
GRCh38: 3:12392714-12392714
18 PPARG NM_138711.6(PPARG):c.431A>G (p.Asp144Gly) SNV Uncertain significance 901055 GRCh37: 3:12434153-12434153
GRCh38: 3:12392654-12392654
19 PPARG NM_138711.6(PPARG):c.56A>C (p.Asp19Ala) SNV Uncertain significance 901544 GRCh37: 3:12421266-12421266
GRCh38: 3:12379767-12379767
20 PPARG NM_015869.4(PPARG):c.235G>A (p.Glu79Lys) SNV Uncertain significance 436395 rs777334819 GRCh37: 3:12421355-12421355
GRCh38: 3:12379856-12379856
21 PPARG NM_015869.4(PPARG):c.1206C>A (p.Phe402Leu) SNV Uncertain significance 343048 rs886057902 GRCh37: 3:12458589-12458589
GRCh38: 3:12417090-12417090
22 PPARG NM_015869.4(PPARG):c.1509C>T (p.Asp503=) SNV Uncertain significance 343051 rs886057903 GRCh37: 3:12475635-12475635
GRCh38: 3:12434136-12434136
23 PPARG NM_015869.4(PPARG):c.288C>T (p.Asp96=) SNV Uncertain significance 342921 rs753817211 GRCh37: 3:12421408-12421408
GRCh38: 3:12379909-12379909
24 PPARG NM_015869.4(PPARG):c.1371A>G (p.Ser457=) SNV Likely benign 343049 rs41516544 GRCh37: 3:12475497-12475497
GRCh38: 3:12433998-12433998
25 PPARG NM_015869.4(PPARG):c.1431C>T (p.His477=) SNV Likely benign 8139 rs3856806 GRCh37: 3:12475557-12475557
GRCh38: 3:12434058-12434058
26 PPARG NM_015869.4(PPARG):c.34C>G (p.Pro12Ala) SNV Likely benign 130019 rs1801282 GRCh37: 3:12393125-12393125
GRCh38: 3:12351626-12351626
27 LOC114803475 , PPARG NM_138711.6(PPARG):c.629G>A (p.Arg210Gln) SNV Likely benign 901923 GRCh37: 3:12447480-12447480
GRCh38: 3:12405981-12405981
28 PPARG NM_138711.6(PPARG):c.1224A>G (p.Gln408=) SNV Likely benign 902829 GRCh37: 3:12475440-12475440
GRCh38: 3:12433941-12433941
29 PPARG NM_015869.4(PPARG):c.438T>C (p.Ala146=) SNV Benign 342922 rs147975759 GRCh37: 3:12422948-12422948
GRCh38: 3:12381449-12381449
30 PPARG NM_015869.4(PPARG):c.1452C>T (p.Ile484=) SNV Benign 343050 rs149367249 GRCh37: 3:12475578-12475578
GRCh38: 3:12434079-12434079
31 PPARG NM_015869.4(PPARG):c.-22C>T SNV Benign 342919 rs200479885 GRCh37: 3:12393070-12393070
GRCh38: 3:12351571-12351571
32 PPARG NM_138711.6(PPARG):c.393T>C (p.Gly131=) SNV Benign 901054 GRCh37: 3:12434115-12434115
GRCh38: 3:12392616-12392616
33 PPARG NM_015869.4(PPARG):c.240C>T (p.Asp80=) SNV Benign 342920 rs112174008 GRCh37: 3:12421360-12421360
GRCh38: 3:12379861-12379861
34 PPARG NM_015869.4(PPARG):c.891C>G (p.Pro297=) SNV Benign 343047 rs13306747 GRCh37: 3:12458274-12458274
GRCh38: 3:12416775-12416775
35 PPARG NM_015869.4(PPARG):c.507G>A (p.Leu169=) SNV Benign 342924 rs41415646 GRCh37: 3:12434139-12434139
GRCh38: 3:12392640-12392640
36 PPARG NM_015869.4(PPARG):c.481-3C>T SNV Benign 342923 rs370830238 GRCh37: 3:12434110-12434110
GRCh38: 3:12392611-12392611

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

72
# Symbol AA change Variation ID SNP ID
1 PPARG p.Phe388Leu VAR_022700 rs72551363
2 PPARG p.Arg425Cys VAR_022701 rs72551364

Expression for Lipodystrophy, Familial Partial, Type 3

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

Pathways for Lipodystrophy, Familial Partial, Type 3

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

# Super pathways Score Top Affiliating Genes
1 11.75 PPARG PCYT1A BSCL2 AGPAT2
2 11.04 PPARG LMNA BSCL2 AGPAT2

GO Terms for Lipodystrophy, Familial Partial, Type 3

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.26 PPARG PCYT1A BSCL2 AGPAT2
2 phospholipid biosynthetic process GO:0008654 9.16 PCYT1A AGPAT2
3 lipid droplet organization GO:0034389 8.62 CIDEC BSCL2

Sources for Lipodystrophy, Familial Partial, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....