Aliases & Classifications for Lipedema

MalaCards integrated aliases for Lipedema:

Name: Lipedema 58 54 60 6 74

Characteristics:

Orphanet epidemiological data:

60
lipedema
Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (Europe);

OMIM:

58
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:

33
lipedema:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 614103
ICD10 via Orphanet 35 E65
UMLS via Orphanet 75 C0398370
Orphanet 60 ORPHA77243
MedGen 43 C0398370
UMLS 74 C0398370

Summaries for Lipedema

NIH Rare Diseases : 54 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 lymphedema and sotos syndrome 1. An important gene associated with Lipedema is NSD1 (Nuclear Receptor Binding SET Domain Protein 1). The drugs Hormones and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and adipocyte, and related phenotypes are lipodystrophy and pedal edema

OMIM : 58 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 : 77 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 all 15)
# Related Disease Score Top Affiliating Genes
1 lymphedema 10.5
2 sotos syndrome 1 10.0
3 varicose veins 10.0
4 williams-beuren syndrome 10.0
5 pseudoxanthoma elasticum 10.0
6 asthma 10.0
7 muscle hypertrophy 10.0
8 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.0
9 alopecia 10.0
10 childhood type dermatomyositis 10.0
11 dermatomyositis 10.0
12 myiasis 10.0
13 vascular disease 10.0
14 calcinosis 10.0
15 depression 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:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lipodystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009125
2 pedal edema 33 frequent (33%) HP:0010741
3 edema 33 HP:0000969
4 edema of the lower limbs 60 Frequent (79-30%)
5 lipedema 33 HP:0100695

Symptoms via clinical synopsis from OMIM:

58
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
2 Hormone Antagonists
3 Hormones, Hormone Substitutes, and Hormone Antagonists

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Evaluation of Safety and Efficacy of RZL-012 for the Treatment of Lipedema or of Nodular Dercum's Disease Completed NCT03492840 Phase 2 RZL-012
2 Physical Condition in Lipedema and Obesity Completed NCT01759004 Not Applicable
3 Quadrivas Therapy® to Reduce Lipedema Subcutaneous Adipose Tissue (QUADRIVAS) Completed NCT02907411 Not Applicable
4 Effect of an Low Carbon High Fat Diet on Pain- and Quality of Life in Patients With Lipedema Completed NCT03710798 Not Applicable
5 Immune Characterization of Subcutaneous Adipose Tissue Completed NCT02076087
6 Effect of Weight Loss on Body Composition and Metabolic Function in Women With Lipedema Recruiting NCT03271034 Not Applicable
7 Complete Decongestive Therapy With Negative Pressure for Lipedema and Lymphedema Therapy Recruiting NCT03634462 Not Applicable
8 Comparison of Complete Decongestive Therapy With Intermittent Pneumatic Compression for Treatment of Lipedema Recruiting NCT03924999 Not Applicable
9 Williams Syndrome Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study Recruiting NCT03758651
10 Insight Into Subcutaneous Adipose Tissue Disorders Recruiting NCT02838277
11 Imaging Lymphatic Function in Normal Subjects and in Persons With Lymphatic Disorders Enrolling by invitation NCT00833599 NIRFLI with ICG
12 HYPOXI for Women With Lipedema Not yet recruiting NCT03853083 Not Applicable

Search NIH Clinical Center for Lipedema

Genetic Tests for Lipedema

Anatomical Context for Lipedema

MalaCards organs/tissues related to Lipedema:

42
Skin, Bone, Adipocyte

Publications for Lipedema

Articles related to Lipedema:

(show top 50) (show all 70)
# Title Authors Year
1
Lipedema-An update. ( 30565362 )
2019
2
Characterizing Lower Extremity Lymphedema and Lipedema with Cutaneous Ultrasonography and an Objective Computer-Assisted Measurement of Dermal Echogenicity. ( 30615553 )
2019
3
Treatment of lipedema by low-volume micro-cannular liposuction in tumescent anesthesia: Results in 111 patients. ( 30638291 )
2019
4
Dilated Blood and Lymphatic Microvessels, Angiogenesis, Increased Macrophages, and Adipocyte Hypertrophy in Lipedema Thigh Skin and Fat Tissue. ( 30949365 )
2019
5
The effect of lipedema on health-related quality of life and psychological status: a narrative review of the literature. ( 31062201 )
2019
6
Lipedema. ( 29143577 )
2018
7
Tissue Sodium Content is Elevated in the Skin and Subcutaneous Adipose Tissue in Women with Lipedema. ( 29280322 )
2018
8
Lipedema: friend and foe. ( 29522416 )
2018
9
Depression and appearance-related distress in functioning with lipedema. ( 29614880 )
2018
10
Low-frequency vibrotherapy considerably improves the effectiveness of manual lymphatic drainage (MLD) in patients with lipedema: A two-armed, randomized, controlled pragmatic trial. ( 29847188 )
2018
11
Lymphoscintigraphic findings in patients with lipedema. ( 30166264 )
2018
12
Left ventricular rotational mechanics differ between lipedema and lymphedema: Insights from the three-dimensional speckle tracking echocardiographic MAGYAR-path study. ( 30422432 )
2018
13
Lipedema: A Commonly Misdiagnosed Fat Disorder. ( 30507813 )
2018
14
First Dutch guidelines on lipedema using the international classification of functioning, disability and health. ( 27075680 )
2017
15
Differentiating lipedema and Dercum's disease. ( 27857136 )
2017
16
Altered body composition, lipedema, and decreased bone density in individuals with Williams syndrome: A preliminary report. ( 28254647 )
2017
17
The adipose tissue-derived stromal vascular fraction cells from lipedema patients: Are they different? ( 28454682 )
2017
18
S1 guidelines: Lipedema. ( 28677175 )
2017
19
Liposuction in the Treatment of Lipedema: A Longitudinal Study. ( 28728329 )
2017
20
Pilot study: whole body manual subcutaneous adipose tissue (SAT) therapy improved pain and SAT structure in women with lipedema. ( 28930626 )
2017
21
Measurement of capillary fragility: a useful tool to differentiate lipedema from obesity? ( 30248725 )
2017
22
Lipedema – lack of evidence for the involvement of tyrosine kinases. ( 27049087 )
2016
23
Lipedema in patients after bariatric surgery. ( 27317598 )
2016
24
Lipedema: diagnostic and management challenges. ( 27570465 )
2016
25
Lipedema: A Relatively Common Disease with Extremely Common Misconceptions. ( 27757353 )
2016
26
Lipedema: A Review of the Literature. ( 25326446 )
2015
27
Lower extremity lipedema, upper extremity lipodystrophy and severe calcinosis complicating juvenile dermatomyositis. ( 24789670 )
2014
28
Evaluation of patient-relevant outcomes of lymphedema and lipedema treatment: development and validation of a new benefit tool. ( 24239143 )
2014
29
Treatment of elderly patients with advanced lipedema: a combination of laser-assisted liposuction, medial thigh lift, and lower partial abdominoplasty. ( 24489474 )
2014
30
You mean it's not my fault: learning about lipedema, a fat disorder. ( 25130361 )
2014
31
Pathophysiological dilemmas of lipedema. ( 25200646 )
2014
32
Application of microcurrents of bioresonance and transdermal delivery of active principles in lymphedema and lipedema of the lower limbs: a pilot study. ( 25664822 )
2014
33
Thick legs - not always lipedema. ( 23231593 )
2013
34
Acute epidural lipedema: a novel entity and potential complication of bone morphogenetic protein use in lumbar spine fusion. ( 23800822 )
2013
35
Lipedema: is aesthetic cellulite an aggravating factor for limb perimeter? ( 24163538 )
2013
36
Long-term Outcome After Surgical Treatment of Lipedema. ( 21629090 )
2012
37
Lipedema is associated with increased aortic stiffness. ( 23057152 )
2012
38
Is lymphostasis an aggravant of lipedema? ( 23185156 )
2012
39
Lipedema: an overview of its clinical manifestations, diagnosis and treatment of the disproportional fatty deposition syndrome - systematic review. ( 25586162 )
2012
40
Liposuction is an effective treatment for lipedema-results of a study with 25 patients. ( 21166777 )
2011
41
Lymphedema and lipedema - an overview of conservative treatment. ( 21780050 )
2011
42
Lymphedema treatment decreases pain intensity in lipedema. ( 22458119 )
2011
43
Lipedema, a rare disease. ( 22506222 )
2011
44
Lipedema: a frequently misdiagnosed and misunderstood fatty deposition syndrome. ( 20087075 )
2010
45
Lipedema: an inherited condition. ( 20358611 )
2010
46
Microcannular tumescent liposuction in advanced lipedema and Dercum's disease. ( 20467389 )
2010
47
Lipedema with multiple lipomas. ( 20875325 )
2010
48
Adipose tissue remodeling in lipedema: adipocyte death and concurrent regeneration. ( 19281484 )
2009
49
MR imaging of the lymphatic system in patients with lipedema and lipo-lymphedema. ( 19323976 )
2009
50
Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema. ( 19545651 )
2009

Variations for Lipedema

ClinVar genetic disease variations for Lipedema:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XX;t(10;15)(q25.2;q11.2) Translocation Pathogenic

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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