MCID: LPD036
MIFTS: 25

Lipodystrophy, Familial Partial, Type 6

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

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:

OMIM 57 615980
Orphanet 59 ORPHA435660
ICD10 via Orphanet 34 E88.1
MeSH 44 D024821
UMLS 73 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, also known as fpld6, is related to lipe-related familial partial lipodystrophy. 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 elevated serum creatine phosphokinase and insulin resistance

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 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 59 32 occasional (7.5%) Very frequent (99-80%) HP:0003236
2 insulin resistance 59 32 Obligate (100%) HP:0000855
3 lipodystrophy 59 32 Obligate (100%) HP:0009125
4 hepatic steatosis 59 32 Very frequent (99-80%) HP:0001397
5 hypertriglyceridemia 59 Very frequent (99-80%)
6 hepatomegaly 59 Very frequent (99-80%)
7 decreased serum leptin 59 Very frequent (99-80%)
8 combined hyperlipidemia 59 Very frequent (99-80%)
9 increased intraabdominal fat 59 Very frequent (99-80%)
10 loss of gluteal subcutaneous adipose tissue 59 Very frequent (99-80%)
11 increased adipose tissue around the neck 59 Obligate (100%)
12 loss of subcutaneous adipose tissue in limbs 59 Obligate (100%)
13 polycystic ovaries 59 Very frequent (99-80%)
14 insulin-resistant diabetes mellitus 59 Very frequent (99-80%)
15 oligomenorrhea 59 Very frequent (99-80%)
16 acanthosis nigricans 59 Very frequent (99-80%)
17 marked muscular hypertrophy 59 Very frequent (99-80%)
18 abnormality of the labia majora 59 Very frequent (99-80%)
19 decreased adiponectin level 59 Very frequent (99-80%)
20 proximal muscle weakness in lower limbs 59 Frequent (79-30%)
21 proximal muscle weakness in upper limbs 59 Frequent (79-30%)
22 abnormality of lipid metabolism 32 HP:0003119
23 muscular dystrophy 32 occasional (7.5%) HP:0003560
24 proximal muscle weakness 32 occasional (7.5%) HP:0003701
25 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
Ovary, Skin, 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
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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