MCID: LPD021
MIFTS: 35

Lipodystrophy, Familial Partial, Type 3

Categories: Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Fetal diseases, Metabolic diseases, Cardiovascular 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 40
Fpld3 57 53 59 75
Lipodystrophy, Familial Partial, Associated with Pparg Mutations 57 53
Familial Partial Lipodystrophy Associated with Pparg Mutations 53 75
Pparg-Related Familial Partial Lipodystrophy 53 59
Familial Partial Lipodystrophy Type 3 53 59
Familial Partial Lipodystrophy 3 29 6
Pparg-Related Fpld 53 59
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:



Summaries for Lipodystrophy, Familial Partial, Type 3

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 is mTOR Pathway. Affiliated tissues include skin, ovary and skeletal muscle, and related phenotypes are hypertension and splenomegaly

Description from OMIM: 604367

Related Diseases for Lipodystrophy, Familial Partial, Type 3

Symptoms & Phenotypes for Lipodystrophy, Familial Partial, Type 3

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 loss of subcutaneous adipose tissue in limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0003635
25 abnormality of skeletal muscle fiber size 59 32 occasional (7.5%) Occasional (29-5%) HP:0012084
26 eclampsia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100601
27 prominent veins on trunk 59 32 very rare (1%) Very rare (<4-1%) HP:0007457
28 loss of facial adipose tissue 59 32 occasional (7.5%) Occasional (29-5%) HP:0000292
29 oligomenorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000876
30 marked muscular hypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0009042
31 calf muscle pseudohypertrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003707
32 diabetes mellitus 59 Very frequent (99-80%)
33 hyperinsulinemia 32 HP:0000842
34 abnormality of the face 32 HP:0000271
35 aplasia/hypoplasia of the skin 59 Very frequent (99-80%)
36 abnormality of the musculature 32 HP:0003011
37 abnormality of the neck 32 HP:0000464
38 preeclampsia 32 HP:0100602
39 skeletal muscle hypertrophy 59 Very frequent (99-80%)
40 atherosclerosis 59 Frequent (79-30%)
41 prominent superficial veins 32 HP:0001015
42 insulin resistance 59 Obligate (100%)
43 lipodystrophy 32 HP:0009125
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
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.96 PPARG PPP1R3A
2 muscle MP:0005369 8.62 PPARG PPP1R3A

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 PPP1R3A

Anatomical Context for Lipodystrophy, Familial Partial, Type 3

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

41
Skin, Ovary, Skeletal Muscle, Heart

Publications for Lipodystrophy, Familial Partial, Type 3

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

Variations for Lipodystrophy, Familial Partial, Type 3

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

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
Show member pathways
10.83 PPARG PPP1R3A

GO Terms for Lipodystrophy, Familial Partial, Type 3

Sources for Lipodystrophy, Familial Partial, Type 3

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
Content
Loading form....