FPLD4
MCID: LPD034
MIFTS: 44

Lipodystrophy, Familial Partial, Type 4 (FPLD4)

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 4

MalaCards integrated aliases for Lipodystrophy, Familial Partial, Type 4:

Name: Lipodystrophy, Familial Partial, Type 4 57 38 71
Plin1-Related Familial Partial Lipodystrophy 11 58 28 5
Fpld4 57 11 58 73
Familial Partial Lipodystrophy Associated with Plin1 Mutations 11 73
Familial Partial Lipodystrophy Type 4 11 14
Plin1-Related Fpld 11 58
Lipodystrophy, Familial Partial, Associated with Plin1 Mutations 57
Lipodystrophy, Familial Partial, 4 73

Characteristics:


Inheritance:

Lipodystrophy, Familial Partial, Type 4: Autosomal dominant 57
Plin1-Related Familial Partial Lipodystrophy: Autosomal dominant 58

Prevelance:

Plin1-Related Familial Partial Lipodystrophy: <1/1000000 (Worldwide) 58

Age Of Onset:

Plin1-Related Familial Partial Lipodystrophy: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
body habitus becomes apparent in childhood


Classifications:

Orphanet: 58  
Rare skin diseases
Rare endocrine diseases


External Ids:

Disease Ontology 11 DOID:0070205
OMIM® 57 613877
OMIM Phenotypic Series 57 PS151660
MeSH 43 D052496
ICD10 via Orphanet 32 E88.1
Orphanet 58 ORPHA280356
MedGen 40 C3151268
UMLS 71 C3151268

Summaries for Lipodystrophy, Familial Partial, Type 4

OMIM®: 57 Familial partial lipodystrophy type 4 is an autosomal dominant metabolic disorder characterized by childhood or young adult onset of loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension (summary by Gandotra et al., 2011). Other features may include hepatic steatosis, acanthosis nigricans, polycystic ovary syndrome, and renal disease (summary by Chen et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660. (613877) (Updated 08-Dec-2022)

MalaCards based summary: Lipodystrophy, Familial Partial, Type 4, also known as plin1-related familial partial lipodystrophy, is related to lipodystrophy, familial partial, type 6 and lipodystrophy, congenital generalized, type 4. An important gene associated with Lipodystrophy, Familial Partial, Type 4 is PLIN1 (Perilipin 1), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include ovary, skin and adipocyte, and related phenotypes are hypertension and lipoatrophy

Orphanet: 58 A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical.

Disease Ontology: 11 A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has material basis in mutation in the PLIN1 gene on chromosome 15q26.

UniProtKB/Swiss-Prot: 73 A form of lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension.

Related Diseases for Lipodystrophy, Familial Partial, Type 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, familial partial, type 6 9.7 PLIN1 LIPE CIDEC
2 lipodystrophy, congenital generalized, type 4 9.7 CAVIN1 AGPAT2
3 lipodystrophy, congenital generalized, type 3 9.7 CAVIN1 AGPAT2
4 lipid storage disease 9.7 PNPLA2 ABHD5
5 lipodystrophy, congenital generalized, type 1 9.7 CAVIN1 AGPAT2
6 pigmentation disease 9.6 CAVIN1 AGPAT2
7 adiposis dolorosa 9.6 PLIN1 CIDEC AGPAT2
8 lysosomal and lipase deficiency 9.6 PNPLA2 LIPE ABHD5
9 lysosomal acid lipase deficiency 9.6 PNPLA2 LIPE ABHD5
10 lipodystrophy, familial partial, type 1 9.6 CIDEC CAVIN1 AGPAT2
11 chanarin-dorfman syndrome 9.4 PNPLA2 PLIN1 LIPE ABHD5
12 acquired generalized lipodystrophy 9.4 PLIN1 CIDEC CAVIN1 AGPAT2
13 complete generalized lipodystrophy 9.4 PLIN1 CIDEC CAVIN1 AGPAT2
14 lipodystrophy, congenital generalized, type 2 9.4 PLIN1 CIDEC CAVIN1 AGPAT2
15 lipodystrophy, familial partial, type 5 9.3 PLIN1 LIPE CIDEC AGPAT2
16 lipodystrophy, familial partial, type 3 9.1 PLIN1 LIPE CIDEC CAVIN1 AGPAT2
17 lipodystrophy, familial partial, type 2 9.1 PLIN1 LIPE CIDEC CAVIN1 AGPAT2
18 familial partial lipodystrophy 9.1 PNPLA2 PLIN1 LIPE CIDEC AGPAT2
19 type 2 diabetes mellitus 9.1 PNPLA2 PLIN1 LIPE AGPAT2
20 congenital generalized lipodystrophy 8.8 PNPLA2 PLIN1 LIPE CIDEC CAVIN1 AGPAT2

Graphical network of the top 20 diseases related to Lipodystrophy, Familial Partial, Type 4:



Diseases related to Lipodystrophy, Familial Partial, Type 4

Symptoms & Phenotypes for Lipodystrophy, Familial Partial, Type 4

Human phenotypes related to Lipodystrophy, Familial Partial, Type 4:

58 30 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 58 30 Very rare (1%) Obligate (100%)
HP:0000822
2 lipoatrophy 58 30 Very rare (1%) Obligate (100%)
HP:0100578
3 hypertriglyceridemia 58 30 Very rare (1%) Obligate (100%)
HP:0002155
4 hepatic steatosis 58 30 Very rare (1%) Obligate (100%)
HP:0001397
5 hyperinsulinemia 58 30 Obligate (100%) Obligate (100%)
HP:0000842
6 acanthosis nigricans 58 30 Very rare (1%) Obligate (100%)
HP:0000956
7 insulin-resistant diabetes mellitus at puberty 58 30 Obligate (100%) Obligate (100%)
HP:0000877
8 infertility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000789
9 loss of subcutaneous adipose tissue in limbs 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003635
10 calf muscle hypertrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008981
11 reduced subcutaneous adipose tissue 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003758
12 loss of gluteal subcutaneous adipose tissue 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009017
13 hepatic fibrosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001395
14 polycystic ovaries 58 30 Frequent (33%) Frequent (79-30%)
HP:0000147
15 oligomenorrhea 58 30 Very rare (1%) Frequent (79-30%)
HP:0000876
16 stroke 30 Very rare (1%) HP:0001297
17 skeletal muscle hypertrophy 30 Very rare (1%) HP:0003712
18 insulin-resistant diabetes mellitus 30 Very rare (1%) HP:0000831
19 abnormality of circulating hormone level 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

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

Abdomen Pancreas:
pancreatitis

Genitourinary Kidneys:
thickening of the glomerular basement membrane
microalbuminemia (1 patient)
proteinuria (1 patient)
increased glomerular filtration rate (1 patient)
enlarged glomeruli on renal biopsy (1 patient)
more
Muscle Soft Tissue:
partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue)
no lipodystrophy in face and neck
muscular appearance
muscular hypertrophy
central obesity
more
Abdomen Liver:
steatosis

Head And Neck Neck:
normal cervical adipose tissue

Skin Nails Hair Skin:
acanthosis nigricans

Endocrine Features:
oligomenorrhea
diabetes mellitus, insulin-resistant
ovarian hyperandrogenemia
polycystic ovary syndrome
cushingoid appearance (in some patients)

Cardiovascular Heart:
cardiomyopathy (in some patients)

Laboratory Abnormalities:
increased serum triglycerides
dyslipidemia

Head And Neck Face:
normal facial adipose tissue
cushingoid appearance (2 patients)

Clinical features from OMIM®:

613877 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Lipodystrophy, Familial Partial, Type 4:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.8 ABHD5 AGPAT2 CIDEC LIPE PLIN1 PNPLA2
2 muscle MP:0005369 9.77 ABHD5 CAVIN1 LIPE PLIN1 PNPLA2
3 homeostasis/metabolism MP:0005376 9.7 ABHD5 AGPAT2 CAVIN1 CIDEC LIPE PLIN1
4 adipose tissue MP:0005375 9.65 AGPAT2 CIDEC LIPE PLIN1 PNPLA2
5 growth/size/body region MP:0005378 9.5 ABHD5 AGPAT2 CAVIN1 CIDEC LIPE PLIN1
6 integument MP:0010771 9.1 ABHD5 AGPAT2 CIDEC LIPE PLIN1 PNPLA2

Drugs & Therapeutics for Lipodystrophy, Familial Partial, Type 4

Search Clinical Trials, NIH Clinical Center for Lipodystrophy, Familial Partial, Type 4

Genetic Tests for Lipodystrophy, Familial Partial, Type 4

Genetic tests related to Lipodystrophy, Familial Partial, Type 4:

# Genetic test Affiliating Genes
1 Plin1-Related Familial Partial Lipodystrophy 28 PLIN1

Anatomical Context for Lipodystrophy, Familial Partial, Type 4

Organs/tissues related to Lipodystrophy, Familial Partial, Type 4:

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

Publications for Lipodystrophy, Familial Partial, Type 4

Articles related to Lipodystrophy, Familial Partial, Type 4:

# Title Authors PMID Year
1
The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature. 62 57 5
29747582 2018
2
Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy. 62 57 5
25114292 2015
3
Perilipin deficiency and autosomal dominant partial lipodystrophy. 57 5
21345103 2011
4
Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy. 62
31504636 2019
5
Recent developments in lipodystrophy. 62
31135595 2019

Variations for Lipodystrophy, Familial Partial, Type 4

ClinVar genetic disease variations for Lipodystrophy, Familial Partial, Type 4:

5 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLIN1 NM_002666.5(PLIN1):c.1210-1G>T SNV Pathogenic
29827 rs1567075176 GRCh37: 15:90209174-90209174
GRCh38: 15:89665943-89665943
2 PLIN1 NM_002666.5(PLIN1):c.1191_1192del (p.Val398fs) DEL Pathogenic
29828 rs1567075667 GRCh37: 15:90210184-90210185
GRCh38: 15:89666953-89666954
3 PLIN1 NM_002666.5(PLIN1):c.1210-1del DEL Pathogenic
995943 rs1964333023 GRCh37: 15:90209174-90209174
GRCh38: 15:89665943-89665943
4 PLIN1 NM_002666.5(PLIN1):c.1308_1309del (p.Pro439fs) DEL Pathogenic
1342123 GRCh37: 15:90209074-90209075
GRCh38: 15:89665843-89665844
5 PLIN1 NM_002666.5(PLIN1):c.1201_1202dup (p.Val402fs) DUP Pathogenic
1342124 GRCh37: 15:90210173-90210174
GRCh38: 15:89666942-89666943
6 PLIN1 NM_002666.5(PLIN1):c.691C>T (p.Arg231Ter) SNV Likely Pathogenic
1339162 GRCh37: 15:90212811-90212811
GRCh38: 15:89669580-89669580
7 PLIN1 NM_002666.5(PLIN1):c.1033A>G (p.Thr345Ala) SNV Uncertain Significance
1029621 rs779890983 GRCh37: 15:90210343-90210343
GRCh38: 15:89667112-89667112
8 PLIN1 NM_002666.5(PLIN1):c.269T>C (p.Leu90Pro) SNV Uncertain Significance
1033942 rs139271800 GRCh37: 15:90214777-90214777
GRCh38: 15:89671546-89671546
9 PLIN1 NM_002666.5(PLIN1):c.902C>T (p.Thr301Met) SNV Uncertain Significance
634585 rs74407840 GRCh37: 15:90210894-90210894
GRCh38: 15:89667663-89667663
10 PLIN1 NM_002666.5(PLIN1):c.224C>T (p.Pro75Leu) SNV Uncertain Significance
976014 rs146569237 GRCh37: 15:90216467-90216467
GRCh38: 15:89673236-89673236
11 PLIN1 NM_002666.5(PLIN1):c.1113T>C (p.Pro371=) SNV Benign
129970 rs2304795 GRCh37: 15:90210263-90210263
GRCh38: 15:89667032-89667032
12 PLIN1 NM_002666.5(PLIN1):c.1119C>T (p.Val373=) SNV Benign
129971 rs2304796 GRCh37: 15:90210257-90210257
GRCh38: 15:89667026-89667026
13 PLIN1 NM_002666.5(PLIN1):c.580C>G (p.Pro194Ala) SNV Benign
129973 rs6496589 GRCh37: 15:90213229-90213229
GRCh38: 15:89669998-89669998
14 PLIN1 NM_002666.5(PLIN1):c.772-23T>A SNV Benign
1250333 GRCh37: 15:90211047-90211047
GRCh38: 15:89667816-89667816

Expression for Lipodystrophy, Familial Partial, Type 4

Search GEO for disease gene expression data for Lipodystrophy, Familial Partial, Type 4.

Pathways for Lipodystrophy, Familial Partial, Type 4

Pathways related to Lipodystrophy, Familial Partial, Type 4 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.37 PNPLA2 PLIN1 LIPE CIDEC AGPAT2 ABHD5
2
Show member pathways
12.4 PNPLA2 AGPAT2 ABHD5
3 12.04 PNPLA2 PLIN1 LIPE AGPAT2
4 11.7 PLIN1 LIPE AGPAT2
5
Show member pathways
11.68 PNPLA2 LIPE
6
Show member pathways
11.6 LIPE PLIN1 PNPLA2
7 11.41 PNPLA2 PLIN1
8
Show member pathways
11.37 PLIN1 LIPE ABHD5
9
Show member pathways
11.17 PNPLA2 LIPE AGPAT2 ABHD5
10
Show member pathways
11.08 PNPLA2 LIPE
11 10.69 CAVIN1 AGPAT2
12 10.67 PNPLA2 PLIN1 LIPE CIDEC
13 10.15 PNPLA2 PLIN1 LIPE ABHD5

GO Terms for Lipodystrophy, Familial Partial, Type 4

Cellular components related to Lipodystrophy, Familial Partial, Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid droplet GO:0005811 9.32 PNPLA2 PLIN1 LIPE CIDEC ABHD5

Biological processes related to Lipodystrophy, Familial Partial, Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retinol metabolic process GO:0042572 9.78 PNPLA2 LIPE
2 lipid homeostasis GO:0055088 9.76 PNPLA2 ABHD5
3 phosphatidic acid biosynthetic process GO:0006654 9.71 AGPAT2 ABHD5
4 triglyceride catabolic process GO:0019433 9.67 PNPLA2 LIPE
5 lipid catabolic process GO:0016042 9.65 PNPLA2 PLIN1 LIPE
6 lipid droplet organization GO:0034389 9.5 PNPLA2 CIDEC
7 positive regulation of triglyceride catabolic process GO:0010898 9.46 PNPLA2 ABHD5
8 phospholipid biosynthetic process GO:0008654 9.43 AGPAT2 ABHD5
9 negative regulation of sequestering of triglyceride GO:0010891 9.26 PNPLA2 ABHD5
10 lipid metabolic process GO:0006629 9.1 PNPLA2 PLIN1 LIPE AGPAT2 ABHD5

Molecular functions related to Lipodystrophy, Familial Partial, Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 1-acylglycerol-3-phosphate O-acyltransferase activity GO:0003841 9.46 AGPAT2 ABHD5
2 retinyl-palmitate esterase activity GO:0050253 9.26 PNPLA2 LIPE
3 triglyceride lipase activity GO:0004806 9.02 PNPLA2 LIPE ABHD5

Sources for Lipodystrophy, Familial Partial, Type 4

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
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