MCID: ADP001
MIFTS: 44

Adiposis Dolorosa

Categories: Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Adiposis Dolorosa

MalaCards integrated aliases for Adiposis Dolorosa:

Name: Adiposis Dolorosa 57 12 74 20 43 58 44 15 17 71
Dercum Disease 57 12 20 43 58
Dercum's Disease 74 20 43
Adipose Tissue Rheumatism 43 58
Lipomatosis Dolorosa 43 58
Adiposalgia 43 58
Dercum-Vitaut Syndrome 43
Anders Syndrome 43
Morbus Dercum 43

Characteristics:

Orphanet epidemiological data:

58
adiposis dolorosa
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult;

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
adult onset
female to male ratio 5:1
pain most commonly affects the trunk, extremities, pelvic region, buttocks
variable severity

Inheritance:
autosomal dominant


HPO:

31
adiposis dolorosa:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity middle age onset


Classifications:

Orphanet: 58  
Rare skin diseases


Summaries for Adiposis Dolorosa

MedlinePlus Genetics : 43 Adiposis dolorosa is a condition characterized by painful folds of fatty (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas. This condition occurs most often in women who are overweight or obese, and signs and symptoms typically appear between ages 35 and 50.In people with adiposis dolorosa, abnormal fatty tissue or lipomas can occur anywhere on the body but are most often found on the torso, buttocks, and upper parts of the arms and legs. Lipomas usually feel like firm bumps (nodules) under the skin. The growths cause burning or aching that can be severe, particularly if they are pressing on a nearby nerve. In some people, the pain comes and goes, while in others it is continuous. Movement or pressure on adipose tissue or lipomas can make the pain worse. In some cases, lipomas can impair normal movement.Other signs and symptoms that have been reported to occur with adiposis dolorosa include easy bruising, digestive system problems, a rapid heartbeat (tachycardia), general weakness and tiredness (fatigue), sleep problems, depression, irritability, confusion, migraine headaches, recurrent seizures (epilepsy), and a progressive decline in memory and intellectual function (dementia). These problems do not occur in everyone with adiposis dolorosa, and it is unclear whether they are directly related to the condition.

MalaCards based summary : Adiposis Dolorosa, also known as dercum disease, is related to chronic pain and alcohol dependence, and has symptoms including constipation, fatigue and arthralgia. An important gene associated with Adiposis Dolorosa is CCL4 (C-C Motif Chemokine Ligand 4), and among its related pathways/superpathways are Lung fibrosis and Adipogenesis. Affiliated tissues include skin and liver, and related phenotypes are depressivity and fatigue

GARD : 20 Adiposis dolorosa is a rare condition characterized by the growth of multiple, painful, lipomas (benign, fatty tumors). The lipomas may occur anywhere on the body and can cause severe pain. Other symptoms may include weakness, fatigue, and memory disturbances. It usually occurs in adults, and women are more commonly affected than men. Adiposis dolorosa is chronic and tends to be progressive. The exact cause is unknown. Most cases are sporadic (not inherited) but a few familial cases with autosomal dominant inheritance have been reported. The pain associated with adiposis dolorosa is difficult to treat. Surgical removal or liposuction may help, but lipomas may recur.

OMIM® : 57 Adiposis dolorosa, also known as Dercum disease, is characterized by generalized obesity and pronounced, disabling, and chronic pain in the adipose tissue of the proximal extremities, trunk, pelvic area, and buttocks; the face and hands are usually spared. There are a number of associated symptoms, including multiple lipomas, generalized weakness, fatigue, sleep disturbances, constipation, and psychiatric abnormalities. It is 5 to 30 times more common in women than men, and usually presents between 35 and 50 years of age (summary by Campen et al., 2001; review by Hansson et al., 2012). Based on a review of the literature and studies of 111 patients, Hansson et al. (2012) proposed a classification of Dercum disease into 4 types: (I) generalized diffuse form without clear lipomas, (II) generalized nodular form with multiple lipomas, (III) localized nodular form, and (IV) juxtaarticular form with solitary fatty deposits near joints. (103200) (Updated 05-Mar-2021)

Wikipedia : 74 Adiposis dolorosa, is an outdated term for many years used synonymously as Dercum's disease, lipedema or... more...

Related Diseases for Adiposis Dolorosa

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

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 chronic pain 10.4
2 alcohol dependence 10.1
3 atherosclerosis susceptibility 10.1
4 hypercholesterolemia, familial, 1 10.1
5 cervical cancer 10.1
6 lipedema 10.1
7 generalized atherosclerosis 10.1
8 lipomatosis 10.1
9 cellulitis 10.1
10 diabetic neuropathy 10.1
11 eosinophilia-myalgia syndrome 10.1
12 hypereosinophilic syndrome 10.1
13 headache 10.1
14 paresthesia 10.1
15 latex allergy 10.1 IL13 CCL4
16 radiculopathy 10.0 IL13 CCL4
17 bronchiolitis 10.0 IL13 CCL4
18 lipomatosis, multiple symmetric 10.0
19 fatty liver disease, nonalcoholic 1 10.0
20 non-alcoholic fatty liver disease 10.0
21 lyme disease 10.0
22 coccidioidomycosis 10.0
23 histoplasmosis 10.0
24 dystonia 10.0
25 fibromyalgia 10.0
26 fatty liver disease 10.0
27 type 2 diabetes mellitus 9.9
28 proteus syndrome 9.9
29 rheumatoid arthritis 9.9
30 thrombophilia due to thrombin defect 9.9
31 panniculitis 9.9
32 constipation 9.9
33 arthritis 9.9
34 vasculitis 9.9
35 diabetes mellitus 9.9
36 pulmonary embolism 9.9
37 cerebral atrophy 9.9
38 berardinelli-seip congenital lipodystrophy 9.9 BSCL2 AGPAT2
39 primary bacterial infectious disease 9.9 IL13 CCL4
40 lipodystrophy, congenital generalized, type 4 9.9 BSCL2 AGPAT2
41 lipodystrophy, congenital generalized, type 3 9.9 BSCL2 AGPAT2
42 lipodystrophy, congenital generalized, type 1 9.9 BSCL2 AGPAT2
43 lipodystrophy, congenital generalized, type 2 9.9 BSCL2 AGPAT2
44 donohue syndrome 9.9 BSCL2 AGPAT2
45 pigmentation disease 9.9 BSCL2 AGPAT2
46 meningitis 9.9 IL13 CCL4
47 umbilical hernia 9.9 BSCL2 AGPAT2
48 neuronopathy, distal hereditary motor, type va 9.8 BSCL2 AGPAT2
49 sarcoidosis 1 9.8 IL13 CCL4
50 lipodystrophy, familial partial, type 1 9.7 CIDEC BSCL2 AGPAT2

Graphical network of the top 20 diseases related to Adiposis Dolorosa:



Diseases related to Adiposis Dolorosa

Symptoms & Phenotypes for Adiposis Dolorosa

Human phenotypes related to Adiposis Dolorosa:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000716
2 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
3 anxiety 58 31 hallmark (90%) Very frequent (99-80%) HP:0000739
4 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
5 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
6 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
7 psychosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000709
8 sparse axillary hair 58 31 frequent (33%) Frequent (79-30%) HP:0002215
9 sparse pubic hair 58 31 frequent (33%) Frequent (79-30%) HP:0002225
10 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
11 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
12 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
13 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
14 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
15 dry skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000958
16 autoimmunity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002960
17 telangiectasia of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0100585
18 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
19 bruising susceptibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000978
20 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
21 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
22 diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002014
23 xerostomia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000217
24 recurrent skin infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0001581
25 seizure 31 occasional (7.5%) HP:0001250
26 seizures 58 Occasional (29-5%)
27 peripheral neuropathy 58 Occasional (29-5%)
28 abdominal distention 31 HP:0003270
29 chronic pain 31 HP:0012532
30 painful subcutaneous lipomas 31 HP:0007596

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Gastrointestinal:
constipation
bloating

Neurologic Behavioral Psychiatric Manifestations:
anxiety
difficulty concentrating
depression
impaired memory

Skeletal:
arthralgia

Skin Nails Hair Skin:
subcutaneous lipomas, well-circumscribed and painful
mature adipocytes

Neurologic Central Nervous System:
fatigue
chronic pain
sleep disturbances

Growth Weight:
obesity

Muscle Soft Tissue:
muscle aches
painful adipose tissue

Clinical features from OMIM®:

103200 (Updated 05-Mar-2021)

UMLS symptoms related to Adiposis Dolorosa:


constipation, fatigue, arthralgia, myalgia, chronic pain, sleep disturbances, abdominal bloating

MGI Mouse Phenotypes related to Adiposis Dolorosa:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.77 AGPAT2 BSCL2 CIDEC PROX1 ZMPSTE24
2 digestive/alimentary MP:0005381 9.72 AGPAT2 BSCL2 IL13 PROX1 ZMPSTE24
3 endocrine/exocrine gland MP:0005379 9.65 AGPAT2 BSCL2 IL13 PROX1 ZMPSTE24
4 hematopoietic system MP:0005397 9.63 AGPAT2 BSCL2 CIDEC IL13 PROX1 ZMPSTE24
5 integument MP:0010771 9.35 AGPAT2 BSCL2 CIDEC IL13 ZMPSTE24
6 liver/biliary system MP:0005370 9.02 AGPAT2 BSCL2 CIDEC PROX1 ZMPSTE24

Drugs & Therapeutics for Adiposis Dolorosa

Interventional clinical trials:


# 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 A Double Blind, Randomized, Multi-Center, Placebo-Controlled Phase 2B Clinical Trial for the Evaluation of Efficacy and Safety of RZL-012 in Subjects Having Dercum's Disease Lipomas Not yet recruiting NCT04229030 Phase 2 RZL-012;Vehicle
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

Search NIH Clinical Center for Adiposis Dolorosa

Cochrane evidence based reviews: adiposis dolorosa

Genetic Tests for Adiposis Dolorosa

Anatomical Context for Adiposis Dolorosa

MalaCards organs/tissues related to Adiposis Dolorosa:

40
Skin, Liver

Publications for Adiposis Dolorosa

Articles related to Adiposis Dolorosa:

(show top 50) (show all 94)
# Title Authors PMID Year
1
Dysarthria, progressive parkinsonian features and symmetric necrosis of putamen in a family with painful lipomas (Dercum disease variant). 57 61
12075486 2002
2
Familial occurrence of adiposis dolorosa. 61 57
11148491 2001
3
Autosomal dominant inheritance in adiposis dolorosa (Dercum's disease). 57 61
4721343 1973
4
Hereditary Factors in Adiposis Dolorosa (Dercum's Disease). 57 61
17948485 1963
5
Review of Dercum's disease and proposal of diagnostic criteria, diagnostic methods, classification and management. 57
22546240 2012
6
Minimal incision technique to treat Dercum's disease (adiposis dolorosa). 61
32495450 2020
7
Exophytic Adiposis Dolorosa (Dercum's Disease) of the Thigh: A Case Report. 61
32300502 2020
8
Infections preceding the development of Dercum disease. 61
31908946 2020
9
Dercum's Disease: A Case Report of a Patient Having Both Type 1 and Type 2 Dercum's Disease. 61
33224536 2020
10
Novel Use of Deoxycholic Acid for Adiposis Dolorosa (Dercum Disease). 61
30789509 2019
11
Adiposis Dolorosa Pain Management. 61
31892777 2019
12
Genetic syndromes with localized subcutaneous fat tissue accumulation. 61
31577262 2019
13
Dercum's disease (adiposis dolorosa): a review of clinical presentation and management. 61
31844341 2019
14
Subcutaneous adipose tissue therapy reduces fat by dual X-ray absorptiometry scan and improves tissue structure by ultrasound in women with lipoedema and Dercum disease. 61
30248251 2018
15
Low-Dose d-Amphetamine Induced Regression of Liver Fat Deposits in Dercum Disease. 61
29355511 2018
16
Trauma-induced adiposis dolorosa (Dercum's disease). 61
29592996 2018
17
Prominent neurological involvement in Dercum disease. 61
28194532 2017
18
Lipedema: A Relatively Common Disease with Extremely Common Misconceptions. 61
27757353 2016
19
Juxta-articular adiposis dolorosa (Dercum's disease type IV): report of four cases and treatment by dermolipectomy. 61
26289595 2015
20
Imaging findings of adiposis dolorosa vs. massive localized lymphedema. 61
25672948 2015
21
Adiposis dolorosa. 61
25526345 2014
22
Francis Xavier Dercum: a man for all seasons. 61
25356401 2014
23
Adiposis dolorosa (Dercum's disease): MRI and ultrasound appearances. 61
23809264 2013
24
A successful case of pain management using metformin in a patient with adiposis dolorosa. 61
23611575 2013
25
Neuropeptide levels in Dercum's disease (adiposis dolorosa). 61
22842296 2012
26
How to diagnose a lipodystrophy syndrome. 61
22748602 2012
27
[Picture of the month: dercum disease]. 61
21712013 2011
28
Liposuction may reduce pain in Dercum's disease (adiposis dolorosa). 61
21481169 2011
29
Adiposis dolorosa of scalp presenting with severe headache: an unusual case. 61
20811764 2010
30
Dercum's disease: an unusual presentation. 61
20659266 2010
31
Pilot study: rapidly cycling hypobaric pressure improves pain after 5 days in adiposis dolorosa. 61
21197318 2010
32
[Skin manifestations, treatment and rehabilitation in overweight and obesity]. 61
19723602 2009
33
Lipomatosis-associated inflammation and excess collagen may contribute to lower relative resting energy expenditure in women with adiposis dolorosa. 61
19621017 2009
34
Adiposis dolorosa with hypercholesterolemia and premature severe generalized atherosclerosis. 61
19817260 2009
35
A rare cause of mastalgia: Dercum's disease (adiposis dolorosa). 61
19112957 2008
36
Adiposis dolorosa as an etiology of abdominal pain. 61
18500603 2008
37
Obesity and the skin: skin physiology and skin manifestations of obesity. 61
17504714 2007
38
Dercum's disease (adiposis dolorosa): a report of improvement with infliximab and methotrexate. 61
17448013 2007
39
[An uncommon cause of recurrent abdominal pain in a 63-year-old obese woman]. 61
16493566 2006
40
Dercum's disease. 61
15891252 2005
41
Dercum's disease (adiposis dolorosa): a new case-report. 61
15050201 2004
42
Dercum's disease (Adiposis dolorosa): delayed diagnosis in a patient with cervical cancer. 61
15690837 2004
43
Lipoma excision. 61
11898962 2002
44
[Painful lipoma?]. 61
11851038 2002
45
Adiposis dolorosa. 61
20877043 2000
46
Liposuction in atypical cases. 61
10742463 2000
47
Treatment of pain in adiposis dolorosa (Dercum's disease) with intravenous lidocaine: a case report with a 10-year follow-up. 61
10354189 1999
48
Dercum's disease (adiposis dolorosa). 61
10396574 1999
49
Interferon alfa-2b induced long-term relief of pain in two patients with adiposis dolorosa and chronic hepatitis C. 61
9453446 1997
50
[Adiposis dolorosa (Dercum's disease)]. 61
8967567 1996

Variations for Adiposis Dolorosa

Expression for Adiposis Dolorosa

Search GEO for disease gene expression data for Adiposis Dolorosa.

Pathways for Adiposis Dolorosa

Pathways related to Adiposis Dolorosa according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.96 IL13 CCL4
2 10.92 ZMPSTE24 BSCL2 AGPAT2
3 10.65 IL13 CCL4

GO Terms for Adiposis Dolorosa

Cellular components related to Adiposis Dolorosa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.26 ZMPSTE24 CIDEC BSCL2 AGPAT2
2 integral component of endoplasmic reticulum membrane GO:0030176 9.16 ZMPSTE24 BSCL2
3 lipid droplet GO:0005811 8.62 CIDEC BSCL2

Biological processes related to Adiposis Dolorosa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.26 ZMPSTE24 AGPAT2
2 positive regulation of cold-induced thermogenesis GO:0120162 9.16 IL13 BSCL2
3 liver development GO:0001889 8.96 ZMPSTE24 PROX1
4 lipid droplet organization GO:0034389 8.62 CIDEC BSCL2

Sources for Adiposis Dolorosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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