FPLD6
MCID: LPD036
MIFTS: 26

Lipodystrophy, Familial Partial, Type 6 (FPLD6)

Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle 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 57 53 40 73
Fpld6 57 12 53 59 75
Lipe-Related Familial Partial Lipodystrophy 12 53 59
Lipe-Related Fpld 12 53 59
Familial Partial Lipodystrophy 6 29 6
Lipodystrophy, Familial Partial, Associated with Lipe Mutations 57
Familial Partial Lipodystrophy Associated with Lipe Mutations 12
Familial Partial Lipodystrophy Type 6 12
Lipodystrophy, Familial Partial, 6 75

Characteristics:

Orphanet epidemiological data:

59
lipe-related familial partial lipodystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
heterozygous carriers have an increased risk of metabolic dysfunction


HPO:

32
lipodystrophy, familial partial, type 6:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lipodystrophy, Familial Partial, Type 6

OMIM : 57 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 hepatomegaly and elevated serum creatine phosphokinase

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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
2 elevated serum creatine phosphokinase 59 32 occasional (7.5%) Very frequent (99-80%) HP:0003236
3 hypertriglyceridemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002155
4 acanthosis nigricans 59 32 hallmark (90%) Very frequent (99-80%) HP:0000956
5 hepatic steatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001397
6 proximal muscle weakness in lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0008994
7 proximal muscle weakness in upper limbs 59 32 frequent (33%) Frequent (79-30%) HP:0008997
8 lipodystrophy 59 32 obligate (100%) Obligate (100%) HP:0009125
9 polycystic ovaries 59 32 hallmark (90%) Very frequent (99-80%) HP:0000147
10 decreased serum leptin 59 32 hallmark (90%) Very frequent (99-80%) HP:0003292
11 insulin-resistant diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000831
12 insulin resistance 59 32 Obligate (100%) HP:0000855
13 loss of subcutaneous adipose tissue in limbs 59 32 obligate (100%) Obligate (100%) HP:0003635
14 increased adipose tissue around the neck 59 32 obligate (100%) Obligate (100%) HP:0000468
15 increased intraabdominal fat 59 32 hallmark (90%) Very frequent (99-80%) HP:0008993
16 decreased adiponectin level 59 32 hallmark (90%) Very frequent (99-80%) HP:0030685
17 loss of gluteal subcutaneous adipose tissue 59 32 hallmark (90%) Very frequent (99-80%) HP:0009017
18 oligomenorrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000876
19 marked muscular hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009042
20 abnormality of the labia majora 59 32 hallmark (90%) Very frequent (99-80%) HP:0012881
21 diabetes mellitus 32 HP:0000819
22 combined hyperlipidemia 59 Very frequent (99-80%)
23 abnormality of lipid metabolism 32 HP:0003119
24 proximal muscle weakness 32 occasional (7.5%) HP:0003701
25 muscular dystrophy 32 occasional (7.5%) HP:0003560
26 abdominal obesity 32 HP:0012743

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 29 LIPE

Anatomical Context for Lipodystrophy, Familial Partial, Type 6

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

41
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 NM_005357.3(LIPE): c.3203_3221del19 (p.Val1068Glyfs) deletion Likely pathogenic rs587777699 GRCh38 Chromosome 19, 42401822: 42401840
2 LIPE NM_005357.3(LIPE): c.3203_3221del19 (p.Val1068Glyfs) deletion Likely pathogenic rs587777699 GRCh37 Chromosome 19, 42905974: 42905992
3 LIPE LIPE, 2-BP INS, CG insertion Pathogenic
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 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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54 NINDS
55 Novoseek
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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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