MCID: ADP001
MIFTS: 45

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 57 12 76 53 25 59 44 15 73
Dercum Disease 57 12 53 25 59
Dercum's Disease 76 53 25
Adipose Tissue Rheumatism 25 59
Lipomatosis Dolorosa 25 59
Adiposalgia 25 59
Dercum-Vitaut Syndrome 25
Neurolipomatosis 59
Anders Syndrome 25
Morbus Dercum 25

Characteristics:

Orphanet epidemiological data:

59
adiposis dolorosa
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult;

OMIM:

57
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:

32
adiposis dolorosa:
Onset and clinical course variable expressivity middle age onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


Summaries for Adiposis Dolorosa

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)

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 are Adipogenesis and G-protein signaling_RhoB regulation pathway. Affiliated tissues include skin, adipocyte and liver, and related phenotypes are obesity and depressivity

Genetics Home Reference : 25 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 : 53 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 : 76 Adiposis dolorosa, also known as Dercum''s disease or Anders disease, is a rare condition characterized... more...

Related Diseases for Adiposis Dolorosa

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 localized lipodystrophy 11.4
2 rheumatoid arthritis 10.3
3 cervical cancer 10.3
4 arthritis 10.3
5 hepatitis 10.3
6 lymphedema 10.3
7 hepatitis c 10.3
8 generalized atherosclerosis 10.3
9 lipomatosis 10.3
10 headache 10.3
11 complete generalized lipodystrophy 9.8 ZMPSTE24 AGPAT2
12 lipodystrophy, congenital generalized, type 1 9.8 ZMPSTE24 AGPAT2
13 congenital generalized lipodystrophy 9.7 ZMPSTE24 AGPAT2
14 familial partial lipodystrophy 9.7 CIDEC AGPAT2
15 acquired generalized lipodystrophy 9.6 ZMPSTE24 CIDEC AGPAT2

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



Diseases related to Adiposis Dolorosa

Symptoms & Phenotypes for Adiposis Dolorosa

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Adiposis Dolorosa:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001513
2 depressivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000716
3 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
4 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
6 sleep disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002360
7 developmental regression 59 32 occasional (7.5%) Occasional (29-5%) HP:0002376
8 arthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001369
9 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
10 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
11 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
12 dry skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000958
13 anxiety 59 32 hallmark (90%) Very frequent (99-80%) HP:0000739
14 autoimmunity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002960
15 memory impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002354
16 paresthesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003401
17 psychosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000709
18 telangiectasia of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0100585
19 xerostomia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000217
20 diarrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002014
21 bruising susceptibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0000978
22 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
23 recurrent skin infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0001581
24 sparse pubic hair 59 32 frequent (33%) Frequent (79-30%) HP:0002225
25 sparse axillary hair 59 32 frequent (33%) Frequent (79-30%) HP:0002215
26 peripheral neuropathy 59 Occasional (29-5%)
27 abdominal distention 32 HP:0003270
28 chronic pain 32 HP:0012532
29 painful subcutaneous lipomas 32 HP:0007596

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:

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.13 AGPAT2 CIDEC ZMPSTE24
2 integument MP:0010771 8.92 AGPAT2 CIDEC 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 Recruiting 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:

41
Skin, Adipocyte, Liver

Publications for Adiposis Dolorosa

Articles related to Adiposis Dolorosa:

(show top 50) (show all 62)
# Title Authors Year
1
Trauma-induced adiposis dolorosa (Dercum's disease). ( 29592996 )
2018
2
Adiposis Dolorosa (Dercum, Anders Disease) ( 29939644 )
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
TEMPORAL ADIPOSIS DOLOROSA. ( 26919646 )
2016
7
Juxta-articular adiposis dolorosa (Dercum's disease type IV): report of four cases and treatment by dermolipectomy. ( 26289595 )
2015
8
Imaging findings of adiposis dolorosa vs. massive localized lymphedema. ( 25672948 )
2015
9
Adiposis dolorosa. ( 25526345 )
2014
10
A successful case of pain management using metformin in a patient with adiposis dolorosa. ( 23611575 )
2013
11
Adiposis dolorosa (Dercum's disease): MRI and ultrasound appearances. ( 23809264 )
2013
12
Neuropeptide levels in Dercum's disease (adiposis dolorosa). ( 22842296 )
2012
13
Liposuction may reduce pain in Dercum's disease (adiposis dolorosa). ( 21481169 )
2011
14
Adiposis dolorosa of scalp presenting with severe headache: an unusual case. ( 20811764 )
2010
15
Pilot study: rapidly cycling hypobaric pressure improves pain after 5 days in adiposis dolorosa. ( 21197318 )
2010
16
Lipomatosis-associated inflammation and excess collagen may contribute to lower relative resting energy expenditure in women with adiposis dolorosa. ( 19621017 )
2009
17
Adiposis dolorosa with hypercholesterolemia and premature severe generalized atherosclerosis. ( 19817260 )
2009
18
Adiposis dolorosa as an etiology of abdominal pain. ( 18500603 )
2008
19
A rare cause of mastalgia: Dercum's disease (adiposis dolorosa). ( 19112957 )
2008
20
Dercum's disease (adiposis dolorosa): a report of improvement with infliximab and methotrexate. ( 17448013 )
2007
21
Dercum's disease (Adiposis dolorosa): delayed diagnosis in a patient with cervical cancer. ( 15690837 )
2004
22
Dercum's disease (adiposis dolorosa): a new case-report. ( 15050201 )
2004
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
Corticosteroid-induced juxta-articular adiposis dolorosa. ( 1990989 )
1991
31
Fat-cell heat production, adipose tissue fatty acids, lipoprotein lipase activity and plasma lipoproteins in adiposis dolorosa. ( 1662586 )
1991
32
Adiposis dolorosa (Dercum's disease): liposuction as an effective form of treatment. ( 2300638 )
1990
33
Liposuction in the treatment of juxta-articular adiposis dolorosa. ( 2383065 )
1990
34
Improvement of juxtaarticular adiposis dolorosa by fat suction. ( 3435575 )
1987
35
Juxta-articular adiposis dolorosa associated with rheumatoid arthritis. Report of 2 cases with good response to local corticosteroid injection. ( 3442969 )
1987
36
Dercum's disease (adiposis dolorosa). Treatment of the severe pain with intravenous lidocaine. ( 3822497 )
1987
37
Long-standing pain relief of adiposis dolorosa (Dercum's disease) after intravenous infusion of lidocaine. ( 3734188 )
1986
38
A case of adiposis dolorosa: lipid metabolism and hormone secretion. ( 3771092 )
1986
39
Dercum's disease (adiposis dolorosa). A case report and review of the literature. ( 3698384 )
1986
40
Juxta-articular adiposis dolorosa--a neglected disease. ( 6643030 )
1983
41
Intravenous lidocaine for the treatment of intractable pain of adiposis dolorosa. ( 7129748 )
1982
42
Dercum's disease: adiposis dolorosa. ( 7293909 )
1981
43
Juxta-articular adiposis dolorosa: what is it? Report of 2 cases. ( 518149 )
1979
44
Management of intractable pain in adiposis dolorosa with intravenous administration of lidocaine. ( 943987 )
1976
45
Autosomal dominant inheritance in adiposis dolorosa (Dercum's disease). ( 4721343 )
1973
46
Adiposis dolorosa associated with defects of lipid metabolism. ( 4105769 )
1971
47
Adiposis dolorosa. ( 6041745 )
1967
48
Hereditary Factors in Adiposis Dolorosa (Dercum's Disease). ( 17948485 )
1963
49
Adiposis dolorosa; with report of a case. ( 18144126 )
1949
50
Adiposis dolorosa; a case history. ( 20241301 )
1947

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 10.74 AGPAT2 ZMPSTE24
2 10.19 CCL4L2 IL13

GO Terms for Adiposis Dolorosa

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

# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 8.62 AGPAT2 ZMPSTE24

Molecular functions related to Adiposis Dolorosa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.62 CCL4L2 IL13

Sources for Adiposis Dolorosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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