FPLD6
MCID: LPD036
MIFTS: 40

Lipodystrophy, Familial Partial, Type 6 (FPLD6)

Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Lipodystrophy, Familial Partial, Type 6

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

Name: Lipodystrophy, Familial Partial, Type 6 57 38 71
Lipe-Related Familial Partial Lipodystrophy 11 58 28 5
Fpld6 57 11 58 73
Familial Partial Lipodystrophy Type 6 11 14
Lipe-Related Fpld 11 58
Lipodystrophy, Familial Partial, Associated with Lipe Mutations 57
Familial Partial Lipodystrophy Associated with Lipe Mutations 11
Lipodystrophy, Familial Partial, 6 73

Characteristics:


Inheritance:

Lipodystrophy, Familial Partial, Type 6: Autosomal recessive 57
Lipe-Related Familial Partial Lipodystrophy: Autosomal recessive 58

Prevelance:

Lipe-Related Familial Partial Lipodystrophy: <1/1000000 (Worldwide) 58

Age Of Onset:

Lipe-Related Familial Partial Lipodystrophy: Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
heterozygous carriers have an increased risk of metabolic dysfunction


Classifications:

Orphanet: 58  
Rare skin diseases
Rare endocrine diseases


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) (Updated 08-Dec-2022)

MalaCards based summary: Lipodystrophy, Familial Partial, Type 6, also known as lipe-related familial partial lipodystrophy, is related to adiposis dolorosa and lipodystrophy, congenital generalized, type 2. An important gene associated with Lipodystrophy, Familial Partial, Type 6 is LIPE (Lipase E, Hormone Sensitive Type), and among its related pathways/superpathways are Glucose / Energy Metabolism and AMPK Enzyme Complex Pathway. Affiliated tissues include skin, skeletal muscle and adipose-subcutaneous, and related phenotypes are lipodystrophy and loss of subcutaneous adipose tissue in limbs

Orphanet: 58 A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A familial partial lipodystrophy characterized by autosomal recessive inheritance that has material basis in mutation in the LIPE gene on chromosome 19q13.

Related Diseases for Lipodystrophy, Familial Partial, Type 6

Graphical network of the top 20 diseases related to Lipodystrophy, Familial Partial, Type 6:



Diseases related to Lipodystrophy, Familial Partial, Type 6

Symptoms & Phenotypes for Lipodystrophy, Familial Partial, Type 6

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

58 30 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lipodystrophy 58 30 Very rare (1%) Obligate (100%)
HP:0009125
2 loss of subcutaneous adipose tissue in limbs 58 30 Obligate (100%) Obligate (100%)
HP:0003635
3 increased adipose tissue around the neck 58 30 Obligate (100%) Obligate (100%)
HP:0000468
4 hepatomegaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002240
5 hypertriglyceridemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002155
6 hepatic steatosis 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001397
7 elevated circulating creatine kinase concentration 58 30 Very rare (1%) Very frequent (99-80%)
HP:0003236
8 polycystic ovaries 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000147
9 acanthosis nigricans 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000956
10 oligomenorrhea 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000876
11 increased intraabdominal fat 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008993
12 insulin-resistant diabetes mellitus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000831
13 loss of gluteal subcutaneous adipose tissue 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009017
14 decreased serum leptin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003292
15 decreased adiponectin level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0030685
16 skeletal muscle hypertrophy 30 Hallmark (90%) HP:0003712
17 abnormal labia majora morphology 30 Hallmark (90%) HP:0012881
18 proximal muscle weakness in lower limbs 58 30 Frequent (33%) Frequent (79-30%)
HP:0008994
19 proximal muscle weakness in upper limbs 58 30 Frequent (33%) Frequent (79-30%)
HP:0008997
20 muscular dystrophy 30 Occasional (7.5%) HP:0003560
21 proximal muscle weakness 30 Occasional (7.5%) HP:0003701
22 hypertension 30 Very rare (1%) HP:0000822
23 myopathy 30 Very rare (1%) HP:0003198
24 skeletal muscle atrophy 30 Very rare (1%) HP:0003202
25 hyperlipidemia 30 Very rare (1%) HP:0003077
26 pes cavus 30 Very rare (1%) HP:0001761
27 hypopigmentation of the skin 30 Very rare (1%) HP:0001010
28 lumbar hyperlordosis 30 Very rare (1%) HP:0002938
29 difficulty climbing stairs 30 Very rare (1%) HP:0003551
30 lower limb muscle weakness 30 Very rare (1%) HP:0007340
31 insulin resistance 58 30 Obligate (100%)
HP:0000855
32 diabetes mellitus 30 HP:0000819
33 combined hyperlipidemia 58 Very frequent (99-80%)
34 abnormal circulating lipid concentration 30 HP:0003119
35 abdominal obesity 30 HP:0012743
36 abnormality of the labia majora 58 Very frequent (99-80%)
37 marked muscular hypertrophy 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Lipodystrophy, Familial Partial, Type 6:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.7 AKT2 COX10 DES LIPE PLIN1 TGFBR3
2 liver/biliary system MP:0005370 9.43 AKT2 CIDEC LIPE PLIN1 TGFBR3 ZMPSTE24
3 homeostasis/metabolism MP:0005376 9.36 AKT2 CIDEC COX10 DES ECHS1 LIPE

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 Lipe-Related Familial Partial Lipodystrophy 28 LIPE

Anatomical Context for Lipodystrophy, Familial Partial, Type 6

Organs/tissues related to Lipodystrophy, Familial Partial, Type 6:

MalaCards : Skin, Skeletal Muscle
ODiseA: Adipose-Subcutaneous, Adipose, Adipose-Visceral

Publications for Lipodystrophy, Familial Partial, Type 6

Articles related to Lipodystrophy, Familial Partial, Type 6:

# Title Authors PMID Year
1
CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation. 5
31358993 2019
2
Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy. 57
27862896 2017
3
A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. 57
25475467 2014
4
Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes. 57
24848981 2014
5
Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin. 57
24375490 2014

Variations for Lipodystrophy, Familial Partial, Type 6

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LIPE-AS1, LIPE, LOC101930071 NM_005357.4(LIPE):c.3103G>T (p.Glu1035Ter) SNV Pathogenic
522594 rs766817317 GRCh37: 19:42906092-42906092
GRCh38: 19:42401940-42401940
2 CELA2A NM_033440.3(CELA2A):c.361G>A (p.Asp121Asn) SNV Pathogenic
633592 rs1352544800 GRCh37: 1:15789885-15789885
GRCh38: 1:15463390-15463390
3 CELA2A NM_033440.3(CELA2A):c.253C>A (p.Leu85Met) SNV Pathogenic
633593 rs558493952 GRCh37: 1:15789253-15789253
GRCh38: 1:15462758-15462758
4 CELA2A NM_033440.3(CELA2A):c.639+1G>C SNV Pathogenic
633594 rs752331004 GRCh37: 1:15792640-15792640
GRCh38: 1:15466145-15466145
5 LIPE-AS1, LIPE, LOC101930071 NM_005357.4(LIPE):c.1519_1520dup (p.Ser508fs) DUP Pathogenic
180647 GRCh37: 19:42912263-42912264
GRCh38: 19:42408111-42408112
6 LIPE-AS1, LIPE, LOC101930071 NM_005357.4(LIPE):c.2152C>T (p.Arg718Ter) SNV Likely Pathogenic
1028370 rs1361929051 GRCh37: 19:42910526-42910526
GRCh38: 19:42406374-42406374
7 LIPE-AS1, LIPE, LOC101930071 NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs) DEL Conflicting Interpretations Of Pathogenicity
155901 rs587777699 GRCh37: 19:42905974-42905992
GRCh38: 19:42401822-42401840
8 LIPE-AS1, LIPE, LOC101930071 NM_005357.4(LIPE):c.3040G>A (p.Val1014Met) SNV Uncertain Significance
393280 rs193061079 GRCh37: 19:42906155-42906155
GRCh38: 19:42402003-42402003
9 LIPE-AS1, LIPE NM_005357.4(LIPE):c.913C>T (p.Arg305Cys) SNV Uncertain Significance
998371 rs373430897 GRCh37: 19:42914965-42914965
GRCh38: 19:42410813-42410813

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

Pathways related to Lipodystrophy, Familial Partial, Type 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.74 PLIN1 PCYT1A LIPE AKT2
2
Show member pathways
11.72 LIPE COX10 AKT2
3 11.55 ZMPSTE24 PLIN1 LIPE
4
Show member pathways
10.97 LIPE ECHS1
5 10.39 PLIN1 LIPE
6 10.34 ZMPSTE24 PLIN1 LIPE CIDEC

GO Terms for Lipodystrophy, Familial Partial, Type 6

Cellular components related to Lipodystrophy, Familial Partial, Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid droplet GO:0005811 9.1 PLIN1 LIPE CIDEC

Biological processes related to Lipodystrophy, Familial Partial, Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.17 PLIN1 PCYT1A LIPE ECHS1 COX10

Sources for Lipodystrophy, Familial Partial, Type 6

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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