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FPLD3
MCID: LPD021
MIFTS: 52

Lipodystrophy, Familial Partial, Type 3 (FPLD3)

Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
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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 38
Pparg-Related Familial Partial Lipodystrophy 11 19 58 28 5
Fpld3 57 11 19 58 73
Familial Partial Lipodystrophy Type 3 11 19 58 14
Familial Partial Lipodystrophy Associated with Pparg Mutations 11 19 73
Pparg-Related Fpld 11 19 58
Lipodystrophy, Familial Partial, Associated with Pparg Mutations 57 19
Familial Partial Lipodystrophy, Type 3 71
Insulin Resistance, Severe, Digenic 57
Lipodystrophy, Familial Partial, 3 73

Characteristics:


Inheritance:

Lipodystrophy, Familial Partial, Type 3: Autosomal dominant 57
Pparg-Related Familial Partial Lipodystrophy: Autosomal dominant 58

Prevelance:

Pparg-Related Familial Partial Lipodystrophy: <1/1000000 (Worldwide) 58

Age Of Onset:

Pparg-Related Familial Partial Lipodystrophy: Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset of major clinical features in young adulthood
onset of insulin resistance may occur in childhood


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Skin diseases Endocrine diseases Neuronal diseases Cardiovascular diseases Muscle diseases Liver diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare skin diseases
Rare endocrine diseases


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Summaries for Lipodystrophy, Familial Partial, Type 3

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GARD: 19 A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs.

MalaCards based summary: Lipodystrophy, Familial Partial, Type 3, also known as pparg-related familial partial lipodystrophy, is related to type 2 diabetes mellitus and lipodystrophy, congenital generalized, type 1. 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 AMPK Enzyme Complex Pathway. Affiliated tissues include skin, skeletal muscle and ovary, and related phenotypes are hypertension and lipoatrophy

Orphanet: 58 A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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
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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 7 Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Partial, Acquired Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Familial Partial, Type 5 Lipodystrophy, Familial Partial, Type 6
Akt2-Related Familial Partial Lipodystrophy

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

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 type 2 diabetes mellitus 30.5 PPP1R3A PPARG PLIN1 LMNA LIPE LEP
2 lipodystrophy, congenital generalized, type 1 30.0 CAVIN1 BSCL2 AGPAT2
3 leptin deficiency or dysfunction 29.7 PPARG LIPE LEP INS
4 peripheral nervous system disease 29.6 PPARG LMNA LEP INS HNRNPUL2-BSCL2 BSCL2
5 lipodystrophy, congenital generalized, type 2 28.4 PPARG PLIN1 LMNA LEP INS HNRNPUL2-BSCL2
6 familial partial lipodystrophy 28.0 ZMPSTE24 PPARG PLIN1 LMNA LIPE LEP
7 lipodystrophy, familial partial, type 2 27.6 ZMPSTE24 PPARG PLIN1 LMNA LIPE LEP
8 congenital generalized lipodystrophy 26.7 ZMPSTE24 PPP1R3A PPARG PLIN1 PCYT1A LMNA
9 carotid intimal medial thickness 1 10.3 PPARG LOC114803475
10 neuronopathy, distal hereditary motor, type vc 10.3 HNRNPUL2-BSCL2 BSCL2
11 encephalopathy, progressive, with or without lipodystrophy 10.3 HNRNPUL2-BSCL2 BSCL2
12 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
13 lipedema 10.2 PPARG LEP
14 berardinelli-seip congenital lipodystrophy 10.2 HNRNPUL2-BSCL2 BSCL2 AGPAT2
15 restrictive dermopathy 1 10.2 ZMPSTE24 LMNA
16 restrictive dermopathy 10.2 ZMPSTE24 LMNA
17 mandibuloacral dysplasia with type a lipodystrophy 10.2 ZMPSTE24 LMNA
18 lethal restrictive dermopathy 10.2 ZMPSTE24 LMNA
19 acroosteolysis 10.2 ZMPSTE24 LMNA
20 ulcer of lower limbs 10.1 PPARG INS
21 reynolds syndrome 10.1 ZMPSTE24 LMNA
22 lipodystrophy, congenital generalized, type 4 10.1 CAVIN1 BSCL2 AGPAT2
23 lipodystrophy, congenital generalized, type 3 10.1 CAVIN1 BSCL2 AGPAT2
24 emery-dreifuss muscular dystrophy 3, autosomal recessive 10.1 ZMPSTE24 LMNA
25 pre-eclampsia 10.1
26 eclampsia 10.1
27 neuropathy 10.1
28 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.1 ZMPSTE24 LMNA
29 hypertriglyceridemia 1 10.1
30 supine hypotensive syndrome 10.0 LMNA INS
31 charcot-marie-tooth disease, axonal, type 2b1 10.0 ZMPSTE24 LMNA
32 adiposis dolorosa 10.0 PLIN1 CIDEC BSCL2 AGPAT2
33 diencephalic astrocytoma 10.0 LEP INS
34 marasmus 10.0 LEP INS
35 platelet glycoprotein iv deficiency 10.0 PPARG INS
36 hernia, hiatus 10.0 LEP INS
37 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.0 PPARG LEP INS
38 adult syndrome 10.0 PPARG LEP INS
39 fetal macrosomia 10.0 LEP INS
40 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.0 ZMPSTE24 LMNA
41 abdominal obesity-metabolic syndrome 1 9.9 PPARG LEP INS
42 non-alcoholic steatohepatitis 9.9 PPARG LEP INS
43 monogenic diabetes 9.9 LMNA INS HNRNPUL2-BSCL2 BSCL2
44 acanthosis nigricans 9.9 LMNA LEP INS
45 kwashiorkor 9.9 LEP INS
46 hyperuricemia 9.9 PPARG LEP INS
47 sleep apnea 9.9 PPARG LEP INS
48 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.9 LMNA INS BSCL2 AGPAT2
49 premature ovarian failure 19 9.9 INS AKT2
50 hypercholesterolemia, familial, 1 9.9

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

58 30 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 58 30 Very rare (1%) Obligate (100%)
 HP:0000822
2 lipoatrophy 58 30 Obligate (100%) Obligate (100%)
 HP:0100578
3 hepatomegaly 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002240
4 hypertriglyceridemia 58 30 Very rare (1%) Very frequent (99-80%)
 HP:0002155
5 skeletal muscle hypertrophy 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0003712
6 xanthomatosis 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000991
7 loss of subcutaneous adipose tissue in limbs 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0003635
8 insulin-resistant diabetes mellitus 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000831
9 secondary amenorrhea 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000869
10 thin skin 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000963
11 splenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001744
12 myopathy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0003198
13 hyperuricemia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002149
14 congestive heart failure 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001635
15 hepatic steatosis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001397
16 hypertrophic cardiomyopathy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001639
17 myalgia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0003326
18 polycystic ovaries 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000147
19 generalized hirsutism 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002230
20 acanthosis nigricans 58 30 Very rare (1%) Occasional (29-5%)
 HP:0000956
21 dysmenorrhea 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100607
22 maternal diabetes 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0009800
23 pancreatitis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001733
24 coronary artery atherosclerosis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001677
25 abnormality of skeletal muscle fiber size 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0012084
26 eclampsia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100601
27 oligomenorrhea 58 30 Very rare (1%) Occasional (29-5%)
 HP:0000876
28 loss of facial adipose tissue 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000292
29 calf muscle pseudohypertrophy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0003707
30 primary amenorrhea 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000786
31 cirrhosis 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0001394
32 insulin resistance 58 30 Very rare (1%) Obligate (100%)
 HP:0000855
33 prominent veins on trunk 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0007457
34 type ii diabetes mellitus 30 Very rare (1%) HP:0005978
35 hyperinsulinemia 30 Very rare (1%) HP:0000842
36 lipodystrophy 30 Very rare (1%) HP:0009125
37 decreased hdl cholesterol concentration 30 Very rare (1%) HP:0003233
38 hyperglycemia 30 Very rare (1%) HP:0003074
39 diabetes mellitus 58 Very frequent (99-80%)
40 aplasia/hypoplasia of the skin 58 Very frequent (99-80%)
41 atherosclerosis 58 Frequent (79-30%)
42 hirsutism 30 HP:0001007
43 preeclampsia 30 HP:0100602
44 prominent superficial veins 30 HP:0001015
45 reduced subcutaneous adipose tissue 30 HP:0003758
46 loss of gluteal subcutaneous adipose tissue 30 HP:0009017
47 marked muscular hypertrophy 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Vascular:
hypertension
prominent superficial veins

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

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 08-Dec-2022)

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

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 AGPAT2 AKT2 BSCL2 CAVIN1 CIDEC INS
2 adipose tissue MP:0005375 10.21 AGPAT2 AKT2 BSCL2 CIDEC INS LEP
3 liver/biliary system MP:0005370 10.2 AGPAT2 AKT2 BSCL2 CIDEC INS LEP
4 muscle MP:0005369 10.18 AKT2 CAVIN1 INS LEP LIPE LMNA
5 growth/size/body region MP:0005378 10.18 AGPAT2 AKT2 BSCL2 CAVIN1 CIDEC INS
6 renal/urinary system MP:0005367 10.15 AGPAT2 BSCL2 CAVIN1 INS LEP LIPE
7 endocrine/exocrine gland MP:0005379 9.97 AGPAT2 AKT2 BSCL2 INS LEP LIPE
8 cellular MP:0005384 9.9 AGPAT2 AKT2 BSCL2 CAVIN1 INS LEP
9 digestive/alimentary MP:0005381 9.8 AGPAT2 BSCL2 INS LEP LIPE LMNA
10 skeleton MP:0005390 9.61 AGPAT2 AKT2 BSCL2 INS LEP LIPE
11 integument MP:0010771 9.36 AGPAT2 AKT2 BSCL2 CIDEC INS LEP
Sources

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 Pparg-Related Familial Partial Lipodystrophy 28 PPARG
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Anatomical Context for Lipodystrophy, Familial Partial, Type 3

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Organs/tissues related to Lipodystrophy, Familial Partial, Type 3:

MalaCards : Skin, Skeletal Muscle, Ovary, Heart, Adipocyte
ODiseA: Adipose-Subcutaneous, Adipose, Adipose-Visceral
Sources

Publications for Lipodystrophy, Familial Partial, Type 3

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Articles related to Lipodystrophy, Familial Partial, Type 3:

(show all 40)
# Title Authors PMID Year
1
PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. 57 5
12453919 2002
2
A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. 57 5
11788685 2002
3
Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension. 57 5
10622252 1999
4
Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma. 62 5
17299075 2007
5
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes. 5
25157153 2014
6
Peroxisome proliferator-activated receptor-γ protects against vascular aging. 5
22461176 2012
7
Peroxisome proliferator-activated receptor-gamma C190S mutation causes partial lipodystrophy. 5
17356052 2007
8
Hypertension and abnormal fat distribution but not insulin resistance in mice with P465L PPARgamma. 5
15254591 2004
9
Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma. 57
12663460 2003
10
Phenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants. 62
36397776 2022
11
Familial Partial Lipodystrophy-Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3. 62
35626278 2022
12
Case Report: A New Peroxisome Proliferator-Activated Receptor Gamma Mutation Causes Familial Partial Lipodystrophy Type 3 in a Chinese Patient. 62
35422762 2022
13
Genotype - phenotype correlation in an adolescent girl with pathogenic PPARy genetic variation that caused severe hypertriglyceridemia and early onset type 2 diabetes. 62
34991302 2021
14
Genotype - phenotype correlation in an adolescent girl with pathogenic variant in PPARÆ´ gene causing severe hypertriglyceridemia and early onset type 2 diabetes. 62
34670072 2021
15
Case Report: Metreleptin Treatment in a Patient With a Novel Mutation for Familial Partial Lipodystrophy Type 3, Presenting With Uncontrolled Diabetes and Insulin Resistance. 62
34168618 2021
16
PPARgamma in Metabolism, Immunity, and Cancer: Unified and Diverse Mechanisms of Action. 62
33716977 2021
17
Peroxisome proliferator-activated receptor gamma-ligand-binding domain mutations associated with familial partial lipodystrophy type 3 disrupt human trophoblast fusion and fibroblast migration. 62
32519441 2020
18
The novel loss of function Ile354Val mutation in PPARG causes familial partial lipodystrophy. 62
31863320 2020
19
Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants. 62
30742913 2019
20
Natural helix 9 mutants of PPARγ differently affect its transcriptional activity. 62
30595551 2019
21
P465L-PPARγ mutation confers partial resistance to the hypolipidaemic action of fibrates. 62
29790245 2018
22
A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations. 62
29622583 2018
23
Heterodimers of photoreceptor-specific nuclear receptor (PNR/NR2E3) and peroxisome proliferator-activated receptor-γ (PPARγ) are disrupted by retinal disease-associated mutations. 62
28300834 2017
24
PPARgamma Deficiency Counteracts Thymic Senescence. 62
29163553 2017
25
Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3. 62
26119484 2016
26
Familial partial lipodystrophy type 3: a new mutation on the PPARG gene. 62
26158656 2015
27
PPARγ mutations, lipodystrophy and diabetes. 62
25460295 2014
28
Peroxisome proliferator-activated receptor-γ mutations responsible for lipodystrophy with severe hypertension activate the cellular renin-angiotensin system. 62
23393388 2013
29
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. 62
22559930 2012
30
Clinical and molecular characterization of a severe form of partial lipodystrophy expanding the phenotype of PPARγ deficiency. 62
22750678 2012
31
Functional implications of genetic variation in human PPARgamma. 62
19748282 2009
32
Impaired peroxisome proliferator-activated receptor gamma function through mutation of a conserved salt bridge (R425C) in familial partial lipodystrophy. 62
17312272 2007
33
Quantitative and qualitative differences in subcutaneous adipose tissue stores across lipodystrophy types shown by magnetic resonance imaging. 62
17352814 2007
34
A frameshift mutation in peroxisome-proliferator-activated receptor-gamma in familial partial lipodystrophy subtype 3 (FPLD3; MIM 604367). 62
16965332 2006
35
Semi-automated segmentation and quantification of adipose tissue in calf and thigh by MRI: a preliminary study in patients with monogenic metabolic syndrome. 62
16945131 2006
36
Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3). 62
16412238 2006
37
Diseases of adipose tissue: genetic and acquired lipodystrophies. 62
16246048 2005
38
Genetic and physiological insights into the metabolic syndrome. 62
15890790 2005
39
Lessons from human mutations in PPARgamma. 62
15711581 2005
40
A single-base mutation in the peroxisome proliferator-activated receptor gamma4 promoter associated with altered in vitro expression and partial lipodystrophy. 62
15531525 2004
Sources

Variations for Lipodystrophy, Familial Partial, Type 3

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

5 (show all 40)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PPARG NM_138711.6(PPARG):c.862G>A (p.Val288Met) SNV Pathogenic
 8137 rs72551362 GRCh37: 3:12458335-12458335
GRCh38: 3:12416836-12416836
2 PPARG NM_138711.6(PPARG):c.1074T>A (p.Phe358Leu) SNV Pathogenic
 8141 rs72551363 GRCh37: 3:12458547-12458547
GRCh38: 3:12417048-12417048
3 PPARG NM_138711.6(PPARG):c.478T>A (p.Cys160Ser) SNV Pathogenic
 8143 rs121909245 GRCh37: 3:12434200-12434200
GRCh38: 3:12392701-12392701
4 PPARG NM_138711.6(PPARG):c.490C>T (p.Arg164Trp) SNV Pathogenic
 8144 rs121909246 GRCh37: 3:12434212-12434212
GRCh38: 3:12392713-12392713
5 LOC114803475, PPARG NM_138711.6(PPARG):c.530-1G>A SNV Pathogenic
 1285541 GRCh37: 3:12447380-12447380
GRCh38: 3:12405881-12405881
6 PPARG NM_138711.6(PPARG):c.924_928del (p.Asp308fs) MICROSAT Pathogenic
 436400 rs1553650477 GRCh37: 3:12458392-12458396
GRCh38: 3:12416893-12416897
7 PPARG NM_138711.6(PPARG):c.1271del (p.Pro424fs) DEL Pathogenic
 436405 rs770557781 GRCh37: 3:12475485-12475485
GRCh38: 3:12433986-12433986
8 PPARG NM_138711.6(PPARG):c.1183C>T (p.Arg395Cys) SNV Pathogenic
 8142 rs72551364 GRCh37: 3:12475399-12475399
GRCh38: 3:12433900-12433900
9 PPARG NM_138711.6(PPARG):c.491G>A (p.Arg164Gln) SNV Likely Pathogenic
 436397 rs148195788 GRCh37: 3:12434213-12434213
GRCh38: 3:12392714-12392714
10 BSCL2, HNRNPUL2-BSCL2 NM_001122955.4(BSCL2):c.1317C>A (p.Val439=) SNV Likely Pathogenic
 369947 rs1057516190 GRCh37: 11:62457911-62457911
GRCh38: 11:62690439-62690439
11 PPARG NM_138711.6(PPARG):c.1394C>T (p.Pro465Leu) SNV Likely Pathogenic
 8136 rs121909244 GRCh37: 3:12475610-12475610
GRCh38: 3:12434111-12434111
12 PPARG NM_138711.6(PPARG):c.380A>G (p.Glu127Gly) SNV Likely Pathogenic
 436406 rs1553643326 GRCh37: 3:12422980-12422980
GRCh38: 3:12381481-12381481
13 LOC114803475, PPARG NM_138711.6(PPARG):c.545G>A (p.Arg182Gln) SNV Likely Pathogenic
 436398 rs1553647989 GRCh37: 3:12447396-12447396
GRCh38: 3:12405897-12405897
14 PPARG NM_138711.6(PPARG):c.1262T>C (p.Leu421Pro) SNV Likely Pathogenic
 436404 rs1553653993 GRCh37: 3:12475478-12475478
GRCh38: 3:12433979-12433979
15 PPARG NM_138711.6(PPARG):c.881T>C (p.Ile294Thr) SNV Likely Pathogenic
 436399 rs1378972597 GRCh37: 3:12458354-12458354
GRCh38: 3:12416855-12416855
16 PPARG NM_138711.6(PPARG):c.353G>A (p.Gly118Glu) SNV Likely Pathogenic
 1098721 GRCh37: 3:12422953-12422953
GRCh38: 3:12381454-12381454
17 PPARG NM_138711.6(PPARG):c.1124T>C (p.Leu375Pro) SNV Likely Pathogenic
 1341578 GRCh37: 3:12458597-12458597
GRCh38: 3:12417098-12417098
18 PPARG NM_138711.6(PPARG):c.841C>T (p.Gln281Ter) SNV Likely Pathogenic
 1676242 GRCh37: 3:12458314-12458314
GRCh38: 3:12416815-12416815
19 LOC114803475, PPARG NM_138711.6(PPARG):c.614_616delinsC (p.Glu205fs) INDEL Likely Pathogenic
 976149 rs2050647473 GRCh37: 3:12447465-12447467
GRCh38: 3:12405966-12405968
20 LOC114803475, PPARG NM_138711.6(PPARG):c.629G>C (p.Arg210Pro) SNV Likely Pathogenic
 976317 rs150296212 GRCh37: 3:12447480-12447480
GRCh38: 3:12405981-12405981
21 LOC114803475, PPARG NM_138711.6(PPARG):c.614_615del (p.Glu205fs) MICROSAT Likely Pathogenic
 983029 rs2050647141 GRCh37: 3:12447463-12447464
GRCh38: 3:12405964-12405965
22 PPARG NM_138711.6(PPARG):c.198C>T (p.Asp66=) SNV Uncertain Significance
 342921 rs753817211 GRCh37: 3:12421408-12421408
GRCh38: 3:12379909-12379909
23 PPARG NM_138711.6(PPARG):c.56A>C (p.Asp19Ala) SNV Uncertain Significance
 901544 rs762280243 GRCh37: 3:12421266-12421266
GRCh38: 3:12379767-12379767
24 PPARG NM_138711.6(PPARG):c.145G>A (p.Glu49Lys) SNV Uncertain Significance
 436395 rs777334819 GRCh37: 3:12421355-12421355
GRCh38: 3:12379856-12379856
25 PPARG NM_138711.6(PPARG):c.1419C>T (p.Asp473=) SNV Uncertain Significance
 343051 rs886057903 GRCh37: 3:12475635-12475635
GRCh38: 3:12434136-12434136
26 PPARG NM_138711.6(PPARG):c.431A>G (p.Asp144Gly) SNV Uncertain Significance
 901055 rs1211829538 GRCh37: 3:12434153-12434153
GRCh38: 3:12392654-12392654
27 PPARG NM_138711.6(PPARG):c.1116C>A (p.Phe372Leu) SNV Uncertain Significance
 343048 rs886057902 GRCh37: 3:12458589-12458589
GRCh38: 3:12417090-12417090
28 PPARG NM_138711.6(PPARG):c.1281A>G (p.Ser427=) SNV Likely Benign
 343049 rs41516544 GRCh37: 3:12475497-12475497
GRCh38: 3:12433998-12433998
29 PPARG NM_138711.6(PPARG):c.1341C>T (p.His447=) SNV Likely Benign
 8139 rs3856806 GRCh37: 3:12475557-12475557
GRCh38: 3:12434058-12434058
30 PPARG NM_138711.6(PPARG):c.-8-28078C>G SNV Likely Benign
 130019 rs1801282 GRCh37: 3:12393125-12393125
GRCh38: 3:12351626-12351626
31 LOC114803475, PPARG NM_138711.6(PPARG):c.629G>A (p.Arg210Gln) SNV Likely Benign
 901923 rs150296212 GRCh37: 3:12447480-12447480
GRCh38: 3:12405981-12405981
32 PPARG NM_138711.6(PPARG):c.1224A>G (p.Gln408=) SNV Likely Benign
 902829 rs28763894 GRCh37: 3:12475440-12475440
GRCh38: 3:12433941-12433941
33 PPARG NM_138711.6(PPARG):c.393T>C (p.Gly131=) SNV Benign
 901054 rs201126401 GRCh37: 3:12434115-12434115
GRCh38: 3:12392616-12392616
34 PPARG NM_138711.6(PPARG):c.1362C>T (p.Ile454=) SNV Benign
 343050 rs149367249 GRCh37: 3:12475578-12475578
GRCh38: 3:12434079-12434079
35 PPARG NM_138711.6(PPARG):c.348T>C (p.Ala116=) SNV Benign
 342922 rs147975759 GRCh37: 3:12422948-12422948
GRCh38: 3:12381449-12381449
36 PPARG NM_138711.6(PPARG):c.-8-28133C>T SNV Benign
 342919 rs200479885 GRCh37: 3:12393070-12393070
GRCh38: 3:12351571-12351571
37 PPARG NM_138711.6(PPARG):c.150C>T (p.Asp50=) SNV Benign
 342920 rs112174008 GRCh37: 3:12421360-12421360
GRCh38: 3:12379861-12379861
38 PPARG NM_138711.6(PPARG):c.801C>G (p.Pro267=) SNV Benign
 343047 rs13306747 GRCh37: 3:12458274-12458274
GRCh38: 3:12416775-12416775
39 PPARG NM_138711.6(PPARG):c.417G>A (p.Leu139=) SNV Benign
 342924 rs41415646 GRCh37: 3:12434139-12434139
GRCh38: 3:12392640-12392640
40 PPARG NM_138711.6(PPARG):c.391-3C>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:

73
# Symbol AA change Variation ID SNP ID
1 PPARG p.Phe388Leu VAR_022700 rs72551363
2 PPARG p.Arg425Cys VAR_022701 rs72551364

Sources

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:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Glucose / Energy Metabolism 3
12.24 PPARG PLIN1 PCYT1A LIPE INS BSCL2
2
AMPK Enzyme Complex Pathway 64
Show member pathways
 11.96 LIPE LEP INS AKT2
3
AMP-activated protein kinase signaling 74
Show member pathways
 11.86 LIPE LEP INS AKT2
4
Thermogenesis 74
Show member pathways
 11.72 PPARG PLIN1 LIPE
5
Mesenchymal Stem Cells and Lineage-specific Markers 65
11.63 PPARG LEP INS
6
Overlap between signal transduction pathways contributing to LMNA laminopathies 74
Show member pathways
 11.6 ZMPSTE24 PPARG LMNA
7
Adipogenesis 74
11.39 ZMPSTE24 PPARG PLIN1 LMNA LIPE LEP
8
Differentiation of white and brown adipocyte 74
10.95 PPARG LEP
9
Progeria-associated lipodystrophy 74
Show member pathways
 10.89 ZMPSTE24 PPARG LMNA
10
Transcription factor regulation in adipogenesis 74
10.88 PPARG LEP
11
Familial partial lipodystrophy 74
10.85 ZMPSTE24 PPARG PLIN1 LMNA LIPE CIDEC
12
Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics 60
10.83 LEP INS
13
Congenital generalized lipodystrophy 74
10.79 CAVIN1 BSCL2 AKT2 AGPAT2
14
Insulin-mediated glucose transport 61
10.78 AKT2 INS PPP1R3A
15
Lipid metabolism pathway 74
10.74 PLIN1 LIPE
Sources

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 lipid droplet GO:0005811 9.23 PLIN1 LIPE CIDEC BSCL2

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cytokine production GO:0001819 9.8 LEP INS AGPAT2
2 glucose metabolic process GO:0006006 9.8 LEP INS AKT2
3 negative regulation of lipid storage GO:0010888 9.67 PPARG LEP
4 negative regulation of cardiac muscle hypertrophy in response to stress GO:1903243 9.46 PPARG LMNA
5 regulation of protein localization to nucleus GO:1900180 9.43 LMNA LEP
6 lipid metabolic process GO:0006629 9.32 PPARG PLIN1 PCYT1A LIPE LEP BSCL2
7 negative regulation of acute inflammatory response GO:0002674 9.13 PPARG INS
Sources

Sources for Lipodystrophy, Familial Partial, Type 3

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 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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