Lipodystrophy, Familial Partial, Type 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LPD021 MIFTS: 35	Lipodystrophy, Familial Partial, Type 3 Categories: Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Fetal diseases, Metabolic diseases, Cardiovascular diseases
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Skin diseases Endocrine diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Lipodystrophy, not elsewhere classified

Orphanet: ⁵⁹

Rare skin diseases

Rare endocrine diseases

External Ids:

OMIM ⁵⁷ 604367

Orphanet ⁵⁹ ORPHA79083

ICD10 via Orphanet ³⁴ E88.1

UMLS via Orphanet ⁷⁴ C1720861

MedGen ⁴² C1720861

MeSH ⁴⁴ D052496

SNOMED-CT via HPO ⁶⁹ 263681008 69878008 118930001 more

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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

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Related Diseases for Lipodystrophy, Familial Partial, Type 3

Diseases in the 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
Familial Partial Lipodystrophy Due to Akt2 Mutations	Lipe-Related Familial Partial Lipodystrophy

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

#	Related Disease	Score	Top Affiliating Genes
1	diabetes mellitus, noninsulin-dependent	31.1	PPARG PPP1R3A
2	familial partial lipodystrophy	10.1
3	partial lipodystrophy	10.1
4	diabetes mellitus	9.0	PPARG PPP1R3A

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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

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Drugs & Therapeutics for Lipodystrophy, Familial Partial, Type 3

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

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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

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Anatomical Context for Lipodystrophy, Familial Partial, Type 3

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

⁴¹

Skin, Ovary, Skeletal Muscle, Heart

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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 )	Miehle K....Hoffmann K.	2015
2	Familial partial lipodystrophy type 3: a new mutation on the PPARG gene. ( 26158656 )	Lau E....Freitas P.	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 )	Castell A.L....FAcnichel P.	2012
4	Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3). ( 16412238 )	Francis G.A....Hegele R.A.	2006

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Genes for Lipodystrophy, Familial Partial, Type 3

Genes related to Lipodystrophy, Familial Partial, Type 3 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PPARG	Peroxisome Proliferator Activated Receptor Gamma	Protein Coding	1650	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹	10622252 12663460 12453919 (more) 17356052 17299075 11788685
2	PPP1R3A	Protein Phosphatase 1 Regulatory Subunit 3A	Protein Coding	100	Genetic Tests ²⁹

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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

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Expression for Lipodystrophy, Familial Partial, Type 3

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

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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	mTOR Pathway ⁷² Show member pathways Insulin Pathway ⁷² TGF-beta Pathway ⁷²	10.83	PPARG PPP1R3A

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GO Terms for Lipodystrophy, Familial Partial, Type 3

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Sources for Lipodystrophy, Familial Partial, Type 3

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