MCID: LPD026
MIFTS: 38

Lipedema

Categories: Rare diseases
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Aliases & Classifications for Lipedema

MalaCards integrated aliases for Lipedema:

Name: Lipedema 57 19 5 71 75

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
virtually all patients with this condition are female
torso and upper body remain normal in shape and contour
feet are unaffected


Classifications:



External Ids:

OMIM® 57 614103
MedGen 40 C0398370
UMLS 71 C0398370

Summaries for Lipedema

OMIM®: 57 Lipedema is a disorder of adipose tissue characterized by fat legs and orthostatic edema. Characteristically, the buttocks and other parts of the lower extremities are symmetrically enlarged owing to accumulation of excess fat and fluid. The condition affects women almost exclusively and, in most instances, represents an exaggeration of the female form (summary by Hines, 1952). (614103) (Updated 08-Dec-2022)

MalaCards based summary: Lipedema is related to fibromyalgia and nutritional deficiency disease. An important gene associated with Lipedema is AKR1C1 (Aldo-Keto Reductase Family 1 Member C1), and among its related pathways/superpathways are Spinal cord injury and Adipogenesis. The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, adipocyte and lymph node, and related phenotypes are edema and lipedema

Wikipedia: 75 Lipedema is a condition that is almost exclusively found in women and results in enlargement of both... more...

Related Diseases for Lipedema

Diseases related to Lipedema via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 146)
# Related Disease Score Top Affiliating Genes
1 fibromyalgia 29.6 LEP IL6
2 nutritional deficiency disease 29.6 LEP IL6
3 connective tissue disease 29.5 PPARG LEP IL6
4 leptin deficiency or dysfunction 29.4 PPARG LEP IL6
5 lipid metabolism disorder 29.4 PPARG LEP IL6
6 vascular disease 29.3 PPARG LEP IL6
7 body mass index quantitative trait locus 11 29.0 PPARG LEP IL6
8 adiposis dolorosa 11.2
9 hereditary lymphedema i 10.7
10 lipomatosis, multiple 10.3
11 primary lymphedema 10.2
12 body mass index quantitative trait locus 1 10.1
13 venous insufficiency 10.1
14 cellulitis 10.1
15 lymphatic system disease 10.1
16 eating disorder 10.1
17 alopecia 10.1
18 ulcer of lower limbs 10.0 PPARG IL6
19 alzheimer disease 11 10.0 PPARG IL6
20 migraine with or without aura 1 10.0
21 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0
22 varicose veins 10.0
23 rhabdomyosarcoma 2 10.0
24 leukemia, acute lymphoblastic 3 10.0
25 b-lymphoblastic leukemia/lymphoma 10.0
26 dermatomyositis 10.0
27 hypolipoproteinemia 10.0
28 hypothyroidism 10.0
29 mood disorder 10.0
30 lymphopenia 10.0
31 sebaceous gland disease 10.0 PPARG IL6
32 middle east respiratory syndrome 10.0 PPARG IL6
33 proteasome-associated autoinflammatory syndrome 1 9.9 PPARG IL6
34 amelogenesis imperfecta, type ig 9.9 PPARG IL6
35 monocytic leukemia 9.9 PPARG IL6
36 acquired generalized lipodystrophy 9.9 PPARG LEP
37 complete generalized lipodystrophy 9.9 PPARG LEP
38 lipodystrophy, familial partial, type 3 9.9 PPARG LEP
39 lipodystrophy, congenital generalized, type 2 9.9 PPARG LEP
40 colonic benign neoplasm 9.9 PPARG IL6
41 lipodystrophy, familial partial, type 2 9.9 PPARG LEP
42 familial partial lipodystrophy 9.8 PPARG LEP
43 abdominal obesity-metabolic syndrome 1 9.8 PPARG LEP
44 obesity-hypoventilation syndrome 9.8 LEP IL6
45 atypical depressive disorder 9.8 LEP IL6
46 spinal cord injury 9.8 LEP IL6
47 gastroesophageal reflux 9.8
48 sotos syndrome 9.8
49 dentin dysplasia, type i 9.8
50 hair whorl 9.8

Graphical network of the top 20 diseases related to Lipedema:



Diseases related to Lipedema

Symptoms & Phenotypes for Lipedema

Human phenotypes related to Lipedema:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 edema 30 HP:0000969
2 lipedema 30 HP:0100695

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Muscle Soft Tissue:
excess fat, symmetrically located in buttocks and lower extremities to ankles
fat pad anterior to malleolus
fat pad between achilles tendon and medial malleolus
tenderness of lower extremities
easy bruisability of lower extremities
more
Neurologic Central Nervous System:
burning or tingling of plantar surface of foot (in some patients)

Clinical features from OMIM®:

614103 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lipedema

Drugs for Lipedema (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
2
Tannic acid Approved 1401-55-4 16129878 16129778
3 Cardiac Glycosides
4 Hormones

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 An Open Label, Phase 2a Clinical Trial for the Evaluation of Safety and Efficacy of RZL-012 for the Treatment of Women With Lipedema Involving Substantial Fat Above the Knee or of Women and Men With Nodular Dercum's Disease Completed NCT04076891 Phase 2 RZL-012
2 An Open Label, Phase 2a Clinical Trial for the Evaluation of Safety and Efficacy of RZL-012 for the Treatment of Women With Lipedema Involving Substantial Fat Above the Knee or of Women and Men With Nodular Dercum's Disease Completed NCT03492840 Phase 2 RZL-012
3 HYPOXI for Women With Lipedema Unknown status NCT03853083
4 The Effect of Trunk Stabilization Exercises on Postural Stability at Lipoedema Patients Unknown status NCT04166084
5 Phase I/II Combinational Investigational New Drug Application: Imaging Lymphatic Function in Normal Subjects and in Persons With Lymphatic Disorders Unknown status NCT00833599 NIRFLI with ICG
6 Insight Into Subcutaneous Adipose Tissue Disorders As Part of The TREAT Program (Treatment, Research, Education, Adipose Tissue) at the University of Arizona Unknown status NCT02838277
7 An Investigator-initiated Study Assessing the Effect of Intermittent Pneumatic Compression (IPC) on Symptoms and Quality of Life in Women With Lipo-lymphedema (Lipedema With Swelling) Completed NCT04213989
8 Comparison of Complete Decongestive Therapy (CDT) With Intermittent Pneumatic Compression (IPK) for Treatment of Lipedema Completed NCT03924999
9 The Effects of Complex Decongestive Physiotherapy Applications on Upper Extremity Circumference and Volume in Patients With Lipedema Completed NCT04643392
10 Vasculera in Participants With Lipedema an Exploratory Controlled Case Study Completed NCT05616962
11 Effect of an Low Carbon High Fat Diet on Pain- and Quality of Life in Patients With Lipedema Completed NCT03710798
12 Complete Decongestive Therapy With Negative Pressure for Lipedema and Lymphedema Therapy Completed NCT03634462
13 The Effect of Complex Decongestive Applications on Lower Extremity Limb Volume in Patients With Lipedema Completed NCT04492046
14 Muscle Strength and Physical Fitness in Patients With Lipedema and Obesity: a Prospective Cross-sectional Pilot Study Completed NCT01759004
15 Quadrivas Therapy® to Reduce Lipedema Subcutaneous Adipose Tissue (QUADRIVAS) Completed NCT02907411
16 Effect of Weight Loss on Body Composition and Metabolic Function in Women With Lipedema Recruiting NCT03271034
17 The Norwegian LIPODIET Study: Effect of Ketosis on Pain and Quality of Life in Patients With Lipedema Recruiting NCT04632810
18 Surical Treatment of Lipedema in Norway - a National Multicenter Study Recruiting NCT05284266
19 Evaluation of Neuropathic Pain in Lipedema Recruiting NCT05329324
20 The Effects of Endurance Training in Women With Lipedema Recruiting NCT05488977
21 Visualizing Vascular Mechanisms of Lipedema Recruiting NCT05464927
22 A Novel Approach to Examine the Adipose Cellular Kinetics of Lipedema Recruiting NCT05394467
23 Vascular Lab Resource (VLR) Biorepository Study Recruiting NCT05628948
24 Pain Characteristics, Intensity, Patterns, Impact and Quality of Life in Women With Lipoedema: an Online Survey Recruiting NCT05114317
25 Multicentre, Controlled, Randomized, Investigator-blinded Clinical Trial on Efficacy and Safety of Surgical Therapy of Lipedema Compared to Complex Physical Decongestive Therapy Alone (LIPLEG) Active, not recruiting NCT04272827
26 Williams Syndrome SHAAPE STUDY [Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study] Active, not recruiting NCT03758651

Search NIH Clinical Center for Lipedema

Genetic Tests for Lipedema

Anatomical Context for Lipedema

Organs/tissues related to Lipedema:

MalaCards : Skin, Adipocyte, Lymph Node, Bone, Endothelial, Heart

Publications for Lipedema

Articles related to Lipedema:

(show top 50) (show all 253)
# Title Authors PMID Year
1
Lipedema: an inherited condition. 62 57
20358611 2010
2
Lipedema: a clinical entity distinct from lymphedema. 62 57
7972431 1994
3
Lipedema--the non-lymphatic masquerader. 62 57
6476475 1984
4
Lipedema and physiologic edema. 62 57
14900206 1952
5
Lipedema of the legs; a syndrome characterized by fat legs and edema. 62 57
14830102 1951
6
Genome-wide association study of a lipedema phenotype among women in the UK Biobank identifies multiple genetic risk factors. 62
36385154 2022
7
Thigh swelling in patients with lipedema - subjective perception versus objective examination. 62
36336982 2022
8
Pathophysiology of cellulite: Possible involvement of selective endotoxemia. 62
36285892 2022
9
The Difficulties in Emotional Regulation among a Cohort of Females with Lipedema. 62
36294260 2022
10
Indications of Peripheral Pain, Dermal Hypersensitivity, and Neurogenic Inflammation in Patients with Lipedema. 62
36142221 2022
11
Lipedema. 62
36048228 2022
12
Physical Therapy in Women with Early Stage Lipedema: Potential Impact of Multimodal Manual Therapy, Compression, Exercise, and Education Interventions. 62
34748408 2022
13
Deep learning for standardized, MRI-based quantification of subcutaneous and subfascial tissue volume for patients with lipedema and lymphedema. 62
35976393 2022
14
Effect of a ketogenic diet on pain and quality of life in patients with lipedema: The LIPODIET pilot study. 62
35949278 2022
15
Editorial for "Subcutaneous Adipose Tissue Edema in Lipedema Revealed by Noninvasive 3T Magnetic Resonance Lymphangiography". 62
35979906 2022
16
A Case Series of Lymphatic Injuries After Suction Lipectomy in Women with Lipedema. 62
35811389 2022
17
Lymphatic function and anatomy in early stages of lipedema. 62
35707862 2022
18
Subcutaneous Adipose Tissue Edema in Lipedema Revealed by Noninvasive 3T MR Lymphangiography. 62
35657120 2022
19
Lower Limb Lipedema-Superficial Lymph Flow, Skin Water Concentration, Skin and Subcutaneous Tissue Elasticity. 62
35675661 2022
20
Current Mechanistic Understandings of Lymphedema and Lipedema: Tales of Fluid, Fat, and Fibrosis. 62
35743063 2022
21
Lipedema in Male Progressing to Subclinical and Clinical Systemic Lymphedema. 62
35837085 2022
22
Ultrasound examination for en-suite measurements in lipedema. 62
34979823 2022
23
Multi-Level Analysis of Adipose Tissue Reveals the Relevance of Perivascular Subpopulations and an Increased Endothelial Permeability in Early-Stage Lipedema. 62
35625899 2022
24
Characteristics and Patient Reported Outcome Measures in Lipedema Patients-Establishing a Baseline for Treatment Evaluation in a High-Volume Center. 62
35628962 2022
25
Reply letter to the editor regarding ultrasound examination for en-suite measurements in lipedema. 62
35505601 2022
26
Persistent lipedema pain in patients after bariatric surgery: a case series of 13 patients. 62
35144895 2022
27
[Diagnosis and treatment of lipedema in Spain. Results of an online survey]. 62
33461763 2022
28
Capillary Western Immunoassay Optimization of Estrogen Related Factors in Human Subcutaneous Adipose Tissue. 62
35448699 2022
29
A 10-Year Retrospective before-and-after Study of Lipedema Surgery: Patient-Reported Lipedema-Associated Symptom Improvement after Multistage Liposuction. 62
35089257 2022
30
Key signaling networks are dysregulated in patients with the adipose tissue disorder, lipedema. 62
34764426 2022
31
Indocyanine green lymphography as novel tool to assess lymphatics in patients with lipedema. 62
34896377 2022
32
Reducing Circumference and Volume in Upper Extremity Lipedema: The Role of Complex Decongestive Physiotherapy. 62
33798399 2022
33
A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy. 62
35207755 2022
34
Hypotheses and Evolution in the Current Treatment of Lipedema Syndrome. 62
35317365 2022
35
The Effect of a Low-Carbohydrate, High-Fat Diet versus Moderate-Carbohydrate and Fat Diet on Body Composition in Patients with Lipedema. 62
36035515 2022
36
Lipedema prevalence and risk factors in Brazil. 62
35677743 2022
37
Is subcutaneous adipose tissue expansion in people living with lipedema healthier and reflected by circulating parameters? 62
36387874 2022
38
Body Composition Assessment by Dual-Energy X-Ray Absorptiometry: A Useful Tool for the Diagnosis of Lipedema. 62
36310013 2022
39
Differential diagnosis of chronic lower limb edema. 62
36208949 2022
40
Women's experiences of living with lipedema. 62
34252343 2022
41
Standard of care for lipedema in the United States. 62
34049453 2021
42
Management of Lipedema with Ketogenic Diet: 22-Month Follow-Up. 62
34947933 2021
43
Lipedema Can Be Treated Non-Surgically: A Report of 5 Cases. 62
34871293 2021
44
Lipedema and the Potential Role of Estrogen in Excessive Adipose Tissue Accumulation. 62
34769153 2021
45
A randomised controlled multicentre investigator-blinded clinical trial comparing efficacy and safety of surgery versus complex physical decongestive therapy for lipedema (LIPLEG). 62
34717741 2021
46
Ultrasound criteria for lipedema diagnosis. 62
33853452 2021
47
Update in the management of lipedema. 62
33870676 2021
48
The association between serum vitamin D and mood disorders in a cohort of lipedema patients. 62
34323062 2021
49
JUXTA-ARTICULAR ADIPOSIS DOLOROSA IN LIPEDEMA PATIENTS. 62
34511435 2021
50
A Young Woman with Excessive Fat in Lower Extremities Develops Disordered Eating and Is Subsequently Diagnosed with Anorexia Nervosa, Lipedema, and Hypermobile Ehlers-Danlos Syndrome. 62
34121088 2021

Variations for Lipedema

Expression for Lipedema

Search GEO for disease gene expression data for Lipedema.

Pathways for Lipedema

GO Terms for Lipedema

Biological processes related to Lipedema according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.97 PPARG LEP AKR1C1
2 regulation of blood pressure GO:0008217 9.88 PPARG LEP
3 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.85 LEP IL6
4 positive regulation of interleukin-8 production GO:0032757 9.84 LEP IL6
5 positive regulation of T cell proliferation GO:0042102 9.83 LEP IL6
6 regulation of insulin secretion GO:0050796 9.8 LEP IL6
7 response to activity GO:0014823 9.78 LEP IL6
8 placenta development GO:0001890 9.76 LEP PPARG
9 cellular response to retinoic acid GO:0071300 9.73 PPARG LEP
10 regulation of angiogenesis GO:0045765 9.73 LEP IL6
11 positive regulation of receptor signaling pathway via JAK-STAT GO:0046427 9.71 LEP IL6
12 response to nutrient GO:0007584 9.69 PPARG LEP
13 positive regulation of reactive oxygen species metabolic process GO:2000379 9.67 LEP AKR1C1
14 bile acid metabolic process GO:0008206 9.56 LEP AKR1C1
15 glucose homeostasis GO:0042593 9.43 PPARG LEP IL6
16 negative regulation of collagen biosynthetic process GO:0032966 9.33 PPARG IL6
17 regulation of fat cell differentiation GO:0045598 9.32 PPARG LEP
18 negative regulation of lipid storage GO:0010888 9.1 PPARG LEP IL6

Sources for Lipedema

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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