MCID: ADP001
MIFTS: 46

Adiposis Dolorosa

Categories: Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Adiposis Dolorosa

MalaCards integrated aliases for Adiposis Dolorosa:

Name: Adiposis Dolorosa 58 12 77 54 26 60 45 15 17 74
Dercum Disease 58 12 54 26 60
Dercum's Disease 77 54 26
Adipose Tissue Rheumatism 26 60
Lipomatosis Dolorosa 26 60
Adiposalgia 26 60
Dercum-Vitaut Syndrome 26
Neurolipomatosis 60
Anders Syndrome 26
Morbus Dercum 26

Characteristics:

Orphanet epidemiological data:

60
adiposis dolorosa
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
female to male ratio 5:1
pain most commonly affects the trunk, extremities, pelvic region, buttocks
variable severity


HPO:

33
adiposis dolorosa:
Onset and clinical course variable expressivity middle age onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


Summaries for Adiposis Dolorosa

OMIM : 58 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)

MalaCards based summary : Adiposis Dolorosa, also known as dercum disease, is related to localized lipodystrophy and rheumatoid arthritis, and has symptoms including constipation, fatigue and arthralgia. An important gene associated with Adiposis Dolorosa is IL13 (Interleukin 13), and among its related pathways/superpathways is Adipogenesis. Affiliated tissues include skin, adipocyte and liver, and related phenotypes are obesity and depressivity

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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.

Wikipedia : 77 Adiposis dolorosa, also known as Dercum''s disease or Anders disease, is a rare condition characterized... more...

Related Diseases for Adiposis Dolorosa

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:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001513
2 depressivity 60 33 hallmark (90%) Very frequent (99-80%) HP:0000716
3 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
4 subcutaneous nodule 60 33 hallmark (90%) Very frequent (99-80%) HP:0001482
5 arthralgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002829
6 anxiety 60 33 hallmark (90%) Very frequent (99-80%) HP:0000739
7 psychosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000709
8 sparse pubic hair 60 33 frequent (33%) Frequent (79-30%) HP:0002225
9 sparse axillary hair 60 33 frequent (33%) Frequent (79-30%) HP:0002215
10 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
11 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
12 constipation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002019
13 sleep disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0002360
14 developmental regression 60 33 occasional (7.5%) Occasional (29-5%) HP:0002376
15 arthritis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001369
16 dry skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0000958
17 autoimmunity 60 33 occasional (7.5%) Occasional (29-5%) HP:0002960
18 memory impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002354
19 paresthesia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003401
20 telangiectasia of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0100585
21 xerostomia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000217
22 headache 60 33 occasional (7.5%) Occasional (29-5%) HP:0002315
23 diarrhea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002014
24 bruising susceptibility 60 33 occasional (7.5%) Occasional (29-5%) HP:0000978
25 recurrent skin infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0001581
26 peripheral neuropathy 60 Occasional (29-5%)
27 abdominal distention 33 HP:0003270
28 chronic pain 33 HP:0012532
29 painful subcutaneous lipomas 33 HP:0007596

Symptoms via clinical synopsis from OMIM:

58
Growth Weight:
obesity

Neurologic Central Nervous System:
fatigue
chronic pain
sleep disturbances

Neurologic Behavioral Psychiatric Manifestations:
anxiety
depression
difficulty concentrating
impaired memory

Muscle Soft Tissue:
painful adipose tissue
muscle aches

Abdomen Gastrointestinal:
constipation
bloating

Skeletal:
arthralgia

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

Clinical features from OMIM:

103200

UMLS symptoms related to Adiposis Dolorosa:


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

GenomeRNAi Phenotypes related to Adiposis Dolorosa according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.17 AGPAT2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.17 AGPAT2 IL13
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.17 IL13
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.17 AGPAT2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.17 IL13
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.17 AGPAT2

MGI Mouse Phenotypes related to Adiposis Dolorosa:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.73 AGPAT2 BSCL2 CIDEC ZMPSTE24
2 growth/size/body region MP:0005378 9.72 AGPAT2 BSCL2 CIDEC IL13 ZMPSTE24
3 digestive/alimentary MP:0005381 9.71 AGPAT2 BSCL2 IL13 ZMPSTE24
4 endocrine/exocrine gland MP:0005379 9.67 AGPAT2 BSCL2 IL13 ZMPSTE24
5 homeostasis/metabolism MP:0005376 9.65 AGPAT2 BSCL2 CIDEC IL13 ZMPSTE24
6 integument MP:0010771 9.55 AGPAT2 BSCL2 CIDEC IL13 ZMPSTE24
7 liver/biliary system MP:0005370 9.26 AGPAT2 BSCL2 CIDEC ZMPSTE24
8 skeleton MP:0005390 8.92 AGPAT2 BSCL2 IL13 ZMPSTE24

Drugs & Therapeutics for Adiposis Dolorosa

Interventional clinical trials:


# 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 Insight Into Subcutaneous Adipose Tissue Disorders Recruiting NCT02838277
3 Imaging Lymphatic Function in Normal Subjects and in Persons With Lymphatic Disorders Enrolling by invitation 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:

42
Skin, Adipocyte, Liver

Publications for Adiposis Dolorosa

Articles related to Adiposis Dolorosa:

(show top 50) (show all 63)
# Title Authors Year
1
Novel Use of Deoxycholic Acid for Adiposis Dolorosa (Dercum Disease). ( 30789509 )
2019
2
Trauma-induced adiposis dolorosa (Dercum's disease). ( 29592996 )
2018
3
Low-Dose d-Amphetamine Induced Regression of Liver Fat Deposits in Dercum Disease. ( 29355511 )
2018
4
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. ( 30248251 )
2018
5
Prominent neurological involvement in Dercum disease. ( 28194532 )
2017
6
Imaging findings of adiposis dolorosa vs. massive localized lymphedema. ( 25672948 )
2015
7
Juxta-articular adiposis dolorosa (Dercum's disease type IV): report of four cases and treatment by dermolipectomy. ( 26289595 )
2015
8
Adiposis dolorosa. ( 25526345 )
2014
9
A successful case of pain management using metformin in a patient with adiposis dolorosa. ( 23611575 )
2013
10
Adiposis dolorosa (Dercum's disease): MRI and ultrasound appearances. ( 23809264 )
2013
11
Neuropeptide levels in Dercum's disease (adiposis dolorosa). ( 22842296 )
2012
12
Liposuction may reduce pain in Dercum's disease (adiposis dolorosa). ( 21481169 )
2011
13
Adiposis dolorosa of scalp presenting with severe headache: an unusual case. ( 20811764 )
2010
14
Pilot study: rapidly cycling hypobaric pressure improves pain after 5 days in adiposis dolorosa. ( 21197318 )
2010
15
Lipomatosis-associated inflammation and excess collagen may contribute to lower relative resting energy expenditure in women with adiposis dolorosa. ( 19621017 )
2009
16
Adiposis dolorosa with hypercholesterolemia and premature severe generalized atherosclerosis. ( 19817260 )
2009
17
Adiposis dolorosa as an etiology of abdominal pain. ( 18500603 )
2008
18
A rare cause of mastalgia: Dercum's disease (adiposis dolorosa). ( 19112957 )
2008
19
Dercum's disease (adiposis dolorosa): a report of improvement with infliximab and methotrexate. ( 17448013 )
2007
20
Dercum's disease (adiposis dolorosa): a new case-report. ( 15050201 )
2004
21
Dercum's disease (Adiposis dolorosa): delayed diagnosis in a patient with cervical cancer. ( 15690837 )
2004
22
Dysarthria, progressive parkinsonian features and symmetric necrosis of putamen in a family with painful lipomas (Dercum disease variant). ( 12075486 )
2002
23
Familial occurrence of adiposis dolorosa. ( 11148491 )
2001
24
Adiposis dolorosa. ( 20877043 )
2000
25
Treatment of pain in adiposis dolorosa (Dercum's disease) with intravenous lidocaine: a case report with a 10-year follow-up. ( 10354189 )
1999
26
Dercum's disease (adiposis dolorosa). ( 10396574 )
1999
27
Interferon alfa-2b induced long-term relief of pain in two patients with adiposis dolorosa and chronic hepatitis C. ( 9453446 )
1997
28
Adiposis dolorosa (Dercum's disease): 10-year follow-up. ( 7880063 )
1994
29
Hormonal and metabolic study of a case of adiposis dolorosa (Dercum's disease). ( 1342834 )
1992
30
Fat-cell heat production, adipose tissue fatty acids, lipoprotein lipase activity and plasma lipoproteins in adiposis dolorosa. ( 1662586 )
1991
31
Corticosteroid-induced juxta-articular adiposis dolorosa. ( 1990989 )
1991
32
[A case of adiposis dolorosa--Dercum's disease]. ( 1776200 )
1991
33
Adiposis dolorosa (Dercum's disease): liposuction as an effective form of treatment. ( 2300638 )
1990
34
Liposuction in the treatment of juxta-articular adiposis dolorosa. ( 2383065 )
1990
35
Improvement of juxtaarticular adiposis dolorosa by fat suction. ( 3435575 )
1987
36
Juxta-articular adiposis dolorosa associated with rheumatoid arthritis. Report of 2 cases with good response to local corticosteroid injection. ( 3442969 )
1987
37
Dercum's disease (adiposis dolorosa). Treatment of the severe pain with intravenous lidocaine. ( 3822497 )
1987
38
Dercum's disease (adiposis dolorosa). A case report and review of the literature. ( 3698384 )
1986
39
Long-standing pain relief of adiposis dolorosa (Dercum's disease) after intravenous infusion of lidocaine. ( 3734188 )
1986
40
A case of adiposis dolorosa: lipid metabolism and hormone secretion. ( 3771092 )
1986
41
Juxta-articular adiposis dolorosa--a neglected disease. ( 6643030 )
1983
42
Intravenous lidocaine for the treatment of intractable pain of adiposis dolorosa. ( 7129748 )
1982
43
Dercum's disease: adiposis dolorosa. ( 7293909 )
1981
44
Juxta-articular adiposis dolorosa: what is it? Report of 2 cases. ( 518149 )
1979
45
Management of intractable pain in adiposis dolorosa with intravenous administration of lidocaine. ( 943987 )
1976
46
Autosomal dominant inheritance in adiposis dolorosa (Dercum's disease). ( 4721343 )
1973
47
Adiposis dolorosa associated with defects of lipid metabolism. ( 4105769 )
1971
48
Adiposis dolorosa. ( 6041745 )
1967
49
Hereditary Factors in Adiposis Dolorosa (Dercum's Disease). ( 17948485 )
1963
50
Adiposis dolorosa; with report of a case. ( 18144126 )
1949

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 10.92 AGPAT2 BSCL2 ZMPSTE24

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 membrane GO:0005789 9.33 AGPAT2 BSCL2 ZMPSTE24
2 integral component of endoplasmic reticulum membrane GO:0030176 8.96 BSCL2 ZMPSTE24
3 endoplasmic reticulum GO:0005783 8.92 AGPAT2 BSCL2 CIDEC ZMPSTE24

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

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

Sources for Adiposis Dolorosa

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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