FPLD4
MCID: LPD034
MIFTS: 36

Lipodystrophy, Familial Partial, Type 4 (FPLD4)

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 4

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

Name: Lipodystrophy, Familial Partial, Type 4 58 54 13 41 74
Fpld4 58 12 54 60 76
Familial Partial Lipodystrophy Associated with Plin1 Mutations 12 54 76
Plin1-Related Familial Partial Lipodystrophy 12 54 60
Familial Partial Lipodystrophy Type 4 12 54 15
Plin1-Related Fpld 12 54 60
Familial Partial Lipodystrophy 4 30 6
Lipodystrophy, Familial Partial, Associated with Plin1 Mutations 58
Lipodystrophy, Familial Partial, 4 76
Fpld Due to Plin1 Mutations 54

Characteristics:

Orphanet epidemiological data:

60
plin1-related familial partial lipodystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
three families have been reported (last curated april 2011)
body habitus becomes apparent in childhood


HPO:

33
lipodystrophy, familial partial, type 4:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Lipodystrophy, Familial Partial, Type 4

OMIM : 58 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). (613877)

MalaCards based summary : Lipodystrophy, Familial Partial, Type 4, also known as fpld4, is related to chanarin-dorfman syndrome and acquired generalized lipodystrophy. An important gene associated with Lipodystrophy, Familial Partial, Type 4 is PLIN1 (Perilipin 1), and among its related pathways/superpathways are Dilated cardiomyopathy (DCM) and Adipogenesis. Affiliated tissues include skin, ovary and skeletal muscle, and related phenotypes are hypertension and lipoatrophy

Disease Ontology : 12 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 : 76 Lipodystrophy, familial partial, 4: 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

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:

60 33 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 60 33 obligate (100%) Obligate (100%) HP:0000822
2 lipoatrophy 60 33 obligate (100%) Obligate (100%) HP:0100578
3 hypertriglyceridemia 60 33 obligate (100%) Obligate (100%) HP:0002155
4 acanthosis nigricans 60 33 obligate (100%) Obligate (100%) HP:0000956
5 hepatic steatosis 60 33 obligate (100%) Obligate (100%) HP:0001397
6 hyperinsulinemia 60 33 obligate (100%) Obligate (100%) HP:0000842
7 insulin-resistant diabetes mellitus at puberty 60 33 obligate (100%) Obligate (100%) HP:0000877
8 infertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000789
9 calf muscle hypertrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008981
10 loss of subcutaneous adipose tissue in limbs 60 33 hallmark (90%) Very frequent (99-80%) HP:0003635
11 reduced subcutaneous adipose tissue 60 33 hallmark (90%) Very frequent (99-80%) HP:0003758
12 loss of gluteal subcutaneous adipose tissue 60 33 hallmark (90%) Very frequent (99-80%) HP:0009017
13 hepatic fibrosis 60 33 frequent (33%) Frequent (79-30%) HP:0001395
14 polycystic ovaries 60 33 frequent (33%) Frequent (79-30%) HP:0000147
15 oligomenorrhea 60 33 frequent (33%) Frequent (79-30%) HP:0000876
16 diabetes mellitus 33 HP:0000819
17 skeletal muscle hypertrophy 33 HP:0003712
18 abnormality of circulating hormone level 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
hypertension

Endocrine Features:
oligomenorrhea
cushingoid appearance (2 patients)
diabetes mellitus, insulin-resistant
ovarian hyperandrogenemia

Laboratory Abnormalities:
increased serum triglycerides

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

Skin Nails Hair Skin:
acanthosis nigricans

Muscle Soft Tissue:
partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue)
no lipodystrophy in face and neck
muscular appearance
muscular hypertrophy
loss of subcutaneous adipose tissue primarily in gluteal region and lower limbs
more
Abdomen Liver:
steatosis

Head And Neck Neck:
normal cervical adipose tissue

Clinical features from OMIM:

613877

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell number GR00098-A-1 8.92 ABHD5 GOLPH3 LMNA PLIN1

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.13 ACE LMNA PLIN1
2 liver/biliary system MP:0005370 8.92 ABHD5 ACE LMNA PLIN1

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 Familial Partial Lipodystrophy 4 30 PLIN1

Anatomical Context for Lipodystrophy, Familial Partial, Type 4

MalaCards organs/tissues related to Lipodystrophy, Familial Partial, Type 4:

42
Skin, Ovary, Skeletal Muscle, Adipocyte

Publications for Lipodystrophy, Familial Partial, Type 4

Variations for Lipodystrophy, Familial Partial, Type 4

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLIN1 NM_002666.4(PLIN1): c.1210-1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 15, 90209174: 90209174
2 PLIN1 NM_002666.4(PLIN1): c.1210-1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 15, 89665943: 89665943
3 PLIN1 NM_002666.4(PLIN1): c.1191_1192delAG (p.Val398Glyfs) deletion Pathogenic GRCh37 Chromosome 15, 90210184: 90210185
4 PLIN1 NM_002666.4(PLIN1): c.1191_1192delAG (p.Val398Glyfs) deletion Pathogenic GRCh38 Chromosome 15, 89666953: 89666954

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.4 ACE LMNA
2 11.08 LMNA PLIN1
3 10.36 ABHD5 PLIN1

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 8.62 ABHD5 PLIN1

Sources for Lipodystrophy, Familial Partial, Type 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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