FPLD6
MCID: LPD036
MIFTS: 25

Lipodystrophy, Familial Partial, Type 6 (FPLD6)

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 6

MalaCards integrated aliases for Lipodystrophy, Familial Partial, Type 6:

Name: Lipodystrophy, Familial Partial, Type 6 58 54 41 74
Fpld6 58 12 54 60 76
Lipe-Related Familial Partial Lipodystrophy 12 54 60
Lipe-Related Fpld 12 54 60
Familial Partial Lipodystrophy 6 30 6
Lipodystrophy, Familial Partial, Associated with Lipe Mutations 58
Familial Partial Lipodystrophy Associated with Lipe Mutations 12
Familial Partial Lipodystrophy Type 6 12
Lipodystrophy, Familial Partial, 6 76

Characteristics:

Orphanet epidemiological data:

60
lipe-related familial partial lipodystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
heterozygous carriers have an increased risk of metabolic dysfunction


HPO:

33
lipodystrophy, familial partial, type 6:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lipodystrophy, Familial Partial, Type 6

OMIM : 58 Familial partial lipodystrophy-6 (FPLD6) is characterized by abnormal subcutaneous fat distribution, with variable excess accumulation of fat in the face, neck, shoulders, axillae, back, abdomen, and pubic region, and reduction in subcutaneous fat of the lower extremities. Progressive adult-onset myopathy is seen in some patients, and there is variable association with diabetes, hypertriglyceridemia, low high-density lipoprotein (HDL) cholesterol, and hepatic steatosis (Zolotov et al., 2017). (615980)

MalaCards based summary : Lipodystrophy, Familial Partial, Type 6, is also known as fpld6. An important gene associated with Lipodystrophy, Familial Partial, Type 6 is LIPE (Lipase E, Hormone Sensitive Type). Affiliated tissues include skin, ovary and adipocyte, and related phenotypes are lipodystrophy and loss of subcutaneous adipose tissue in limbs

Disease Ontology : 12 A familial partial lipodystrophy characterized by autosomal recessive inheritance that has material basis in mutation in the LIPE gene on chromosome 19q13.

UniProtKB/Swiss-Prot : 76 Lipodystrophy, familial partial, 6: A form of lipodystrophy characterized by abnormal subcutaneous fat distribution. Affected individuals have increased visceral fat, impaired lipolysis, dyslipidemia, hepatic steatosis, systemic insulin resistance, and diabetes. Some patients manifest muscular dystrophy.

Related Diseases for Lipodystrophy, Familial Partial, Type 6

Symptoms & Phenotypes for Lipodystrophy, Familial Partial, Type 6

Human phenotypes related to Lipodystrophy, Familial Partial, Type 6:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lipodystrophy 60 33 obligate (100%) Obligate (100%) HP:0009125
2 loss of subcutaneous adipose tissue in limbs 60 33 obligate (100%) Obligate (100%) HP:0003635
3 increased adipose tissue around the neck 60 33 obligate (100%) Obligate (100%) HP:0000468
4 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
5 hypertriglyceridemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002155
6 acanthosis nigricans 60 33 hallmark (90%) Very frequent (99-80%) HP:0000956
7 hepatic steatosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001397
8 polycystic ovaries 60 33 hallmark (90%) Very frequent (99-80%) HP:0000147
9 decreased serum leptin 60 33 hallmark (90%) Very frequent (99-80%) HP:0003292
10 insulin-resistant diabetes mellitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000831
11 increased intraabdominal fat 60 33 hallmark (90%) Very frequent (99-80%) HP:0008993
12 decreased adiponectin level 60 33 hallmark (90%) Very frequent (99-80%) HP:0030685
13 loss of gluteal subcutaneous adipose tissue 60 33 hallmark (90%) Very frequent (99-80%) HP:0009017
14 oligomenorrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0000876
15 marked muscular hypertrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009042
16 abnormality of the labia majora 60 33 hallmark (90%) Very frequent (99-80%) HP:0012881
17 elevated serum creatine kinase 33 occasional (7.5%) HP:0003236
18 proximal muscle weakness in lower limbs 60 33 frequent (33%) Frequent (79-30%) HP:0008994
19 proximal muscle weakness in upper limbs 60 33 frequent (33%) Frequent (79-30%) HP:0008997
20 proximal muscle weakness 33 occasional (7.5%) HP:0003701
21 muscular dystrophy 33 occasional (7.5%) HP:0003560
22 insulin resistance 60 33 Obligate (100%) HP:0000855
23 diabetes mellitus 33 HP:0000819
24 elevated serum creatine phosphokinase 60 Very frequent (99-80%)
25 combined hyperlipidemia 60 Very frequent (99-80%)
26 abdominal obesity 33 HP:0012743
27 abnormal circulating lipid concentration 33 HP:0003119

Symptoms via clinical synopsis from OMIM:

58
Abdomen Liver:
hepatic steatosis

Muscle Soft Tissue:
abnormal subcutaneous fat distribution
reduced lower limb subcutaneous fat
abnormal fat accumulation in axillae (in some patients)
abnormal fat accumulation in the back (in some patients)
abnormal fat accumulation below the triceps (in some patients)
more
Abdomen External Features:
increased visceral fat

Chest Ribs Sternum Clavicles And Scapulae:
abnormal fat accumulation in the clavicular regions (in some patients)

Laboratory Abnormalities:
elevated creatine kinase (in some patients)

Endocrine Features:
insulin resistance
elevated fasting glucose
elevated insulin
type 2 diabetes mellitus
elevated serum adiponectin

Metabolic Features:
dyslipidemia
elevated fasting triglycerides
low high-density lipoprotein cholesterol
small adipocytes
impaired lipolysis
more
Head And Neck Neck:
abnormal fat accumulation in neck

Genitourinary External Genitalia Female:
abnormal fat accumulation in the labia majora (in some patients)

Clinical features from OMIM:

615980

Drugs & Therapeutics for Lipodystrophy, Familial Partial, Type 6

Search Clinical Trials , NIH Clinical Center for Lipodystrophy, Familial Partial, Type 6

Genetic Tests for Lipodystrophy, Familial Partial, Type 6

Genetic tests related to Lipodystrophy, Familial Partial, Type 6:

# Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy 6 30 LIPE

Anatomical Context for Lipodystrophy, Familial Partial, Type 6

MalaCards organs/tissues related to Lipodystrophy, Familial Partial, Type 6:

42
Skin, Ovary, Adipocyte

Publications for Lipodystrophy, Familial Partial, Type 6

Variations for Lipodystrophy, Familial Partial, Type 6

ClinVar genetic disease variations for Lipodystrophy, Familial Partial, Type 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LIPE LIPE, 2-BP INS, CG insertion Pathogenic
2 LIPE NM_005357.3(LIPE): c.3203_3221del19 (p.Val1068Glyfs) deletion Likely pathogenic rs587777699 GRCh38 Chromosome 19, 42401822: 42401840
3 LIPE NM_005357.3(LIPE): c.3203_3221del19 (p.Val1068Glyfs) deletion Likely pathogenic rs587777699 GRCh37 Chromosome 19, 42905974: 42905992
4 LIPE NM_005357.3(LIPE): c.3103G> T (p.Glu1035Ter) single nucleotide variant Pathogenic rs766817317 GRCh37 Chromosome 19, 42906092: 42906092
5 LIPE NM_005357.3(LIPE): c.3103G> T (p.Glu1035Ter) single nucleotide variant Pathogenic rs766817317 GRCh38 Chromosome 19, 42401940: 42401940

Expression for Lipodystrophy, Familial Partial, Type 6

Search GEO for disease gene expression data for Lipodystrophy, Familial Partial, Type 6.

Pathways for Lipodystrophy, Familial Partial, Type 6

GO Terms for Lipodystrophy, Familial Partial, Type 6

Sources for Lipodystrophy, Familial Partial, Type 6

3 CDC
7 CNVD
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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
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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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