FPLD6
MCID: LPD036
MIFTS: 27

Lipodystrophy, Familial Partial, Type 6 (FPLD6)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Liver 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 57 53 40 72
Fpld6 57 12 53 59 74
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 74

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:



External Ids:

Disease Ontology 12 DOID:0070206
MeSH 44 D024821
ICD10 via Orphanet 34 E88.1
Orphanet 59 ORPHA435660
UMLS 72 C4014869

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 ovary, skin 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 : 74 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:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lipodystrophy 59 32 obligate (100%) Obligate (100%) HP:0009125
2 loss of subcutaneous adipose tissue in limbs 59 32 obligate (100%) Obligate (100%) HP:0003635
3 increased adipose tissue around the neck 59 32 obligate (100%) Obligate (100%) HP:0000468
4 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
5 hypertriglyceridemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002155
6 acanthosis nigricans 59 32 hallmark (90%) Very frequent (99-80%) HP:0000956
7 hepatic steatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001397
8 polycystic ovaries 59 32 hallmark (90%) Very frequent (99-80%) HP:0000147
9 decreased serum leptin 59 32 hallmark (90%) Very frequent (99-80%) HP:0003292
10 insulin-resistant diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000831
11 oligomenorrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000876
12 increased intraabdominal fat 59 32 hallmark (90%) Very frequent (99-80%) HP:0008993
13 decreased adiponectin level 59 32 hallmark (90%) Very frequent (99-80%) HP:0030685
14 loss of gluteal subcutaneous adipose tissue 59 32 hallmark (90%) Very frequent (99-80%) HP:0009017
15 marked muscular hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009042
16 abnormality of the labia majora 59 32 hallmark (90%) Very frequent (99-80%) HP:0012881
17 elevated serum creatine kinase 32 occasional (7.5%) HP:0003236
18 proximal muscle weakness in lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0008994
19 proximal muscle weakness in upper limbs 59 32 frequent (33%) Frequent (79-30%) HP:0008997
20 proximal muscle weakness 32 occasional (7.5%) HP:0003701
21 muscular dystrophy 32 occasional (7.5%) HP:0003560
22 insulin resistance 59 32 Obligate (100%) HP:0000855
23 diabetes mellitus 32 HP:0000819
24 elevated serum creatine phosphokinase 59 Very frequent (99-80%)
25 combined hyperlipidemia 59 Very frequent (99-80%)
26 abdominal obesity 32 HP:0012743
27 abnormal circulating lipid concentration 32 HP:0003119

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

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
Ovary, Skin, Adipocyte

Publications for Lipodystrophy, Familial Partial, Type 6

Articles related to Lipodystrophy, Familial Partial, Type 6:

# Title Authors PMID Year
1
Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy. 8 71
27862896 2017
2
A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. 8 71
25475467 2014
3
Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin. 8 71
24375490 2014
4
Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes. 8
24848981 2014

Variations for Lipodystrophy, Familial Partial, Type 6

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LIPE NM_005357.4(LIPE): c.3103G> T (p.Glu1035Ter) single nucleotide variant Pathogenic rs766817317 19:42906092-42906092 19:42401940-42401940
2 LIPE LIPE, 2-BP INS, CG insertion Pathogenic
3 LIPE NM_005357.4(LIPE): c.3203_3221del (p.Val1068fs) deletion Likely pathogenic rs587777699 19:42905974-42905992 19:42401822-42401840

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
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....