Aliases & Classifications for Lipedema

MalaCards integrated aliases for Lipedema:

Name: Lipedema 56 52 58 6 71

Characteristics:

Orphanet epidemiological data:

58
lipedema
Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (Europe);

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
virtually all patients with this condition are female
torso and upper body remain normal in shape and contour
feet are unaffected


HPO:

31
lipedema:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 614103
ICD10 via Orphanet 33 E65
UMLS via Orphanet 72 C0398370
Orphanet 58 ORPHA77243
MedGen 41 C0398370
UMLS 71 C0398370

Summaries for Lipedema

NIH Rare Diseases : 52 Lipedema is a disorder characterized by symmetric enlargement of the legs due to deposits of fat beneath the skin. It is a common condition, occurring almost exclusively in women (affecting up to 11% of women). The cause of lipedema is unknown; however, there is evidence of hormonal and hereditary influences. Many people with lipedema have a family history of similarly enlarged legs. While there is no one effective treatment for lipedema, a number of therapies may be useful in managing symptoms.

MalaCards based summary : Lipedema is related to adiposis dolorosa and hereditary lymphedema i. An important gene associated with Lipedema is NSD1 (Nuclear Receptor Binding SET Domain Protein 1). The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include skin, bone and adipocyte, and related phenotypes are lipodystrophy and pedal edema

OMIM : 56 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)

Wikipedia : 74 Lipedema is a disorder where there is enlargement of both legs due to deposits of fat under the skin.... more...

Related Diseases for Lipedema

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

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 adiposis dolorosa 11.7
2 hereditary lymphedema i 10.8
3 primary lymphedema 10.3
4 alopecia 10.2
5 varicose veins 10.1
6 body mass index quantitative trait locus 1 10.1
7 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.1
8 dermatomyositis 10.1
9 vascular disease 10.1
10 lipid metabolism disorder 10.1
11 cellulitis 10.1
12 autoimmune disease 10.0
13 gastroesophageal reflux 10.0
14 sotos syndrome 1 10.0
15 hair whorl 10.0
16 lipomatosis, multiple 10.0
17 migraine with or without aura 1 10.0
18 williams-beuren syndrome 10.0
19 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
20 pseudoxanthoma elasticum 10.0
21 body mass index quantitative trait locus 11 10.0
22 body mass index quantitative trait locus 9 10.0
23 body mass index quantitative trait locus 8 10.0
24 body mass index quantitative trait locus 4 10.0
25 body mass index quantitative trait locus 10 10.0
26 body mass index quantitative trait locus 7 10.0
27 body mass index quantitative trait locus 12 10.0
28 body mass index quantitative trait locus 14 10.0
29 leptin deficiency or dysfunction 10.0
30 body mass index quantitative trait locus 18 10.0
31 body mass index quantitative trait locus 19 10.0
32 body mass index quantitative trait locus 20 10.0
33 chronic venous insufficiency 10.0
34 venous insufficiency 10.0
35 pleomorphic lipoma 10.0
36 methemoglobinemia 10.0
37 myiasis 10.0
38 retinal microaneurysm 10.0
39 cauda equina syndrome 10.0
40 childhood type dermatomyositis 10.0
41 hypothyroidism 10.0
42 keratosis 10.0
43 calcinosis 10.0
44 tricuspid valve insufficiency 10.0
45 systemic scleroderma 10.0
46 radiculopathy 10.0
47 elephantiasis 10.0
48 aortic disease 10.0
49 congestive heart failure 10.0
50 fibromyalgia 10.0

Graphical network of the top 20 diseases related to Lipedema:



Diseases related to Lipedema

Symptoms & Phenotypes for Lipedema

Human phenotypes related to Lipedema:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lipodystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009125
2 pedal edema 58 31 frequent (33%) Frequent (79-30%) HP:0010741
3 edema 31 HP:0000969
4 lipedema 31 HP:0100695

Symptoms via clinical synopsis from OMIM:

56
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

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 Hormones

Interventional clinical trials:

(show all 17)
# 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 NCT03492840 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 NCT04076891 Phase 2 RZL-012
3 Therapeutic Effect of Cassia Seed in Obesity of Patients With Schizophrenia Completed NCT04252131 Phase 1 cassia seed tablet
4 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
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 Muscle Strength and Physical Fitness in Patients With Lipedema and Obesity: a Prospective Cross-sectional Pilot Study Completed NCT01759004
7 Effect of an Low Carbon High Fat Diet on Pain- and Quality of Life in Patients With Lipedema Completed NCT03710798
8 Quadrivas Therapy® to Reduce Lipedema Subcutaneous Adipose Tissue (QUADRIVAS) Completed NCT02907411
9 Comparison of Complete Decongestive Therapy (CDT) With Intermittent Pneumatic Compression (IPK) for Treatment of Lipedema Completed NCT03924999
10 Complete Decongestive Therapy With Negative Pressure for Lipedema and Lymphedema Therapy Completed NCT03634462
11 Immune Characterization of Subcutaneous Adipose Tissue Completed NCT02076087
12 Williams Syndrome SHAAPE STUDY [Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study] Recruiting NCT03758651
13 Effect of Weight Loss on Body Composition and Metabolic Function in Women With Lipedema Active, not recruiting NCT03271034
14 MULTICENTER, CONTROLLED, RANDOMIZED, INVESTIGATOR-BLINDED CLINICAL STUDY ON EFFICACY AND SAFETY OF SURGICAL THERAPY OF LIPEDEMA COMPARED TO COMPLEX PHYSICAL DECONGESTIVE THERAPY ALONE (LIPLEG) Not yet recruiting NCT04272827
15 HYPOXI for Women With Lipedema Not yet recruiting NCT03853083
16 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) Not yet recruiting NCT04213989
17 The Effect of Trunk Stabilization Exercises on Postural Stability at Lipoedema Patients Not yet recruiting NCT04166084

Search NIH Clinical Center for Lipedema

Genetic Tests for Lipedema

Anatomical Context for Lipedema

MalaCards organs/tissues related to Lipedema:

40
Skin, Bone, Adipocyte, Lymph Node, Heart, Testes

Publications for Lipedema

Articles related to Lipedema:

(show top 50) (show all 175)
# Title Authors PMID Year
1
Lipedema: an inherited condition. 56 61
20358611 2010
2
Lipedema: a clinical entity distinct from lymphedema. 56 61
7972431 1994
3
Lipedema--the non-lymphatic masquerader. 61 56
6476475 1984
4
Lipedema and physiologic edema. 61 56
14900206 1952
5
Lipedema of the legs; a syndrome characterized by fat legs and edema. 61 56
14830102 1951
6
Lipedema. 52 61
29143577 2018
7
Extended overview of the longitudinal pain-depression association: A comparison of six cohorts treated for specific chronic pain conditions. 61
32560947 2020
8
Neuroimaging of Cerebral Blood Flow and Sodium in Women with Lipedema. 61
32568462 2020
9
Non-contrast MR Lymphography of lipedema of the lower extremities. 61
32561380 2020
10
The impact of lower body compression garment on left ventricular rotational mechanics in patients with lipedema-Insights from the three-dimensional speckle tracking echocardiographic MAGYAR-Path Study. 61
32573965 2020
11
Platelet factor 4 is a biomarker for lymphatic-promoted disorders. 61
32525843 2020
12
Are increased left ventricular strains compensatory effects in lipedema? Detailed analysis from the three-dimensional speckle-tracking echocardiographic MAGYAR-Path Study. 61
32394509 2020
13
Adipose Tissue Hypertrophy, An Aberrant Biochemical Profile and Distinct Gene Expression in Lipedema. 61
32407981 2020
14
Upper and Lower Extremity Measurement of Tissue Sodium and Fat Content in Patients with Lipedema. 61
32270924 2020
15
Selenium Deficiency in Lymphedema and Lipedema-A Retrospective Cross-Sectional Study from a Specialized Clinic. 61
32344864 2020
16
SVF-derived extracellular vesicles carry characteristic miRNAs in lipedema. 61
32350368 2020
17
Lipedema: A Commonly Misdiagnosed Fat Disorder. 61
32459759 2020
18
Water-jet-assisted liposuction for the treatment of lipedema: Standardized treatment protocol and results of 63 patients. 61
32446570 2020
19
The role of IL-6 gene polymorphisms in the risk of lipedema. 61
32271442 2020
20
Prevention of Progression of Lipedema With Liposuction Using Tumescent Local Anesthesia: Results of an International Consensus Conference. 61
31356433 2020
21
Increase in Leptin and PPAR-γ Gene Expression in Lipedema Adipocytes Differentiated in vitro from Adipose-Derived Stem Cells. 61
32059474 2020
22
Uncovering Lymphatic Transport Abnormalities in Patients with Primary Lipedema. 61
31546262 2020
23
An Important Tool in Lymphedema Management: Validation of Turkish Version of the Patient Benefit Index-Lymphedema. 61
31145018 2020
24
The clinical characteristics of lower extremity lymphedema in 440 patients. 61
31992537 2020
25
Low-frequency vibrotherapy considerably improves the effectiveness of manual lymphatic drainage (MLD) in patients with lipedema: A two-armed, randomized, controlled pragmatic trial. 61
29847188 2020
26
Lipedema and Dercum's Disease: A New Application of Bioimpedance. 61
31408408 2019
27
New Insights on Lipedema: The Enigmatic Disease of the Peripheral Fat. 61
31764671 2019
28
Lipedema: A Call to Action! 61
31544340 2019
29
Characterizing Lower Extremity Lymphedema and Lipedema with Cutaneous Ultrasonography and an Objective Computer-Assisted Measurement of Dermal Echogenicity. 61
30615553 2019
30
Adipose Stem Cells from Lipedema and Control Adipose Tissue Respond Differently to Adipogenic Stimulation In Vitro. 61
31461015 2019
31
Genetic syndromes with localized subcutaneous fat tissue accumulation. 61
31577262 2019
32
The mitral annulus in lipedema: Insights from the three-dimensional speckle-tracking echocardiographic MAGYAR-Path Study. 61
31318091 2019
33
Genetics of lipedema: new perspectives on genetic research and molecular diagnoses. 61
31298310 2019
34
Adipose stem cells from lipedema and control adipose tissue respond differently to adipogenic stimulation in vitro. 61
31181046 2019
35
Clinical Features of Nonobese, Apparently Healthy, Japanese Men With Reduced Adipose Tissue Insulin Sensitivity. 61
30689902 2019
36
The effect of lipedema on health-related quality of life and psychological status: a narrative review of the literature. 61
31062201 2019
37
Treatment of lipedema by low-volume micro-cannular liposuction in tumescent anesthesia: Results in 111 patients. 61
30638291 2019
38
Lipedema-An update. 61
30565362 2019
39
[The Swollen Leg in Vascular Medical Practice]. 61
30870871 2019
40
Acute edema induced by toluidine blue extravasation-first report. 61
30349973 2019
41
Dilated Blood and Lymphatic Microvessels, Angiogenesis, Increased Macrophages, and Adipocyte Hypertrophy in Lipedema Thigh Skin and Fat Tissue. 61
30949365 2019
42
Inclusion of targeted skin products in the pre-surgical treatment regimen of peripheral lymphedema & lipedema. 61
32171186 2019
43
[Differential diagnostics of lipedema and lymphedema : A practical guideline]. 61
30402687 2018
44
[Focus "Liposuction in Lipedema"]. 61
30620974 2018
45
[Lipedema - patient's view]. 61
30620979 2018
46
[Lipedema - basics and current hypothesis of pathomechanism]. 61
30620975 2018
47
Unilateral leg edema: Is it always vascular? 61
30516529 2018
48
Glucose and lipid metabolism, bone density, and body composition in individuals with Williams syndrome. 61
30099760 2018
49
Lymphoscintigraphic findings in patients with lipedema. 61
30166264 2018
50
[Differential diagnostics of lipedema and lymphedema : A practical guideline]. 61
30280233 2018

Variations for Lipedema

ClinVar genetic disease variations for Lipedema:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XX;t(10;15)(q25.2;q11.2)Translocation Pathogenic 267923

Expression for Lipedema

Search GEO for disease gene expression data for Lipedema.

Pathways for Lipedema

GO Terms for Lipedema

Sources for Lipedema

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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