MCID: LPD034
MIFTS: 25

Lipodystrophy, Familial Partial, Type 4

Categories: Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Fetal diseases, Metabolic diseases, Cardiovascular diseases

Aliases & Classifications for Lipodystrophy, Familial Partial, Type 4

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

Name: Lipodystrophy, Familial Partial, Type 4 57 53 13 40 73
Fpld4 57 53 59 75
Familial Partial Lipodystrophy Associated with Plin1 Mutations 53 75
Plin1-Related Familial Partial Lipodystrophy 53 59
Familial Partial Lipodystrophy 4 29 6
Plin1-Related Fpld 53 59
Lipodystrophy, Familial Partial, Associated with Plin1 Mutations 57
Familial Partial Lipodystrophy Type 4 53
Lipodystrophy, Familial Partial, 4 75
Fpld Due to Plin1 Mutations 53

Characteristics:

Orphanet epidemiological data:

59
plin1-related familial partial lipodystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
lipodystrophy, familial partial, type 4:
Inheritance autosomal dominant inheritance


Classifications:



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). (613877)

MalaCards based summary : Lipodystrophy, Familial Partial, Type 4, is also known as fpld4. An important gene associated with Lipodystrophy, Familial Partial, Type 4 is PLIN1 (Perilipin 1). Affiliated tissues include skin, ovary and skeletal muscle, and related phenotypes are hypertension and lipoatrophy

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Lipodystrophy, Familial Partial, Type 4

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 obligate (100%) Obligate (100%) HP:0000822
2 lipoatrophy 59 32 obligate (100%) Obligate (100%) HP:0100578
3 hypertriglyceridemia 59 32 obligate (100%) Obligate (100%) HP:0002155
4 acanthosis nigricans 59 32 obligate (100%) Obligate (100%) HP:0000956
5 hepatic steatosis 59 32 obligate (100%) Obligate (100%) HP:0001397
6 hyperinsulinemia 59 32 obligate (100%) Obligate (100%) HP:0000842
7 hepatic fibrosis 59 32 frequent (33%) Frequent (79-30%) HP:0001395
8 polycystic ovaries 59 32 frequent (33%) Frequent (79-30%) HP:0000147
9 infertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000789
10 calf muscle hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008981
11 loss of subcutaneous adipose tissue in limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0003635
12 insulin-resistant diabetes mellitus at puberty 59 32 obligate (100%) Obligate (100%) HP:0000877
13 reduced subcutaneous adipose tissue 59 32 hallmark (90%) Very frequent (99-80%) HP:0003758
14 loss of gluteal subcutaneous adipose tissue 59 32 hallmark (90%) Very frequent (99-80%) HP:0009017
15 oligomenorrhea 59 32 frequent (33%) Frequent (79-30%) HP:0000876
16 diabetes mellitus 32 HP:0000819
17 skeletal muscle hypertrophy 32 HP:0003712
18 abnormality of circulating hormone level 59 Frequent (79-30%)

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 29 PLIN1

Anatomical Context for Lipodystrophy, Familial Partial, Type 4

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

41
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 PLIN1, IVS8AS, G-T, -1 single nucleotide variant Pathogenic
2 PLIN1 PLIN1, 2-BP DEL, 1191AG deletion Pathogenic

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

GO Terms for Lipodystrophy, Familial Partial, Type 4

Sources for Lipodystrophy, Familial Partial, Type 4

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
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