MCID: ADP001
MIFTS: 42

Adiposis Dolorosa

Categories: Rare diseases, Skin diseases, Neuronal 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 arthralgia, constipation and fatigue. An important gene associated with Adiposis Dolorosa is IL13 (Interleukin 13), and among its related pathways/superpathways is Adipogenesis. Affiliated tissues include skin and adipocyte, and related phenotypes are xerostomia and psychosis

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.

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.

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 13)
# Related Disease Score Top Affiliating Genes
1 localized lipodystrophy 11.3
2 rheumatoid arthritis 10.1
3 cervical cancer 10.1
4 arthritis 10.1
5 hepatitis 10.1
6 lymphedema 10.1
7 hepatitis c 10.1
8 generalized atherosclerosis 10.1
9 cervicitis 10.1
10 lipomatosis 10.1
11 headache 10.1
12 congenital generalized lipodystrophy 9.1 AGPAT2 ZMPSTE24
13 familial partial lipodystrophy 9.0 AGPAT2 CIDEC

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

UMLS symptoms related to Adiposis Dolorosa:


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

Publications for Adiposis Dolorosa

Articles related to Adiposis Dolorosa:

(show top 50) (show all 58)
# Title Authors Year
1
Trauma-induced adiposis dolorosa (Dercum's disease). ( 29592996 )
2018
2
Adiposis Dolorosa (Dercum, Anders Disease) ( 29939644 )
2018
3
TEMPORAL ADIPOSIS DOLOROSA. ( 26919646 )
2016
4
Imaging findings of adiposis dolorosa vs. massive localized lymphedema. ( 25672948 )
2015
5
Juxta-articular adiposis dolorosa (Dercum's disease type IV): report of four cases and treatment by dermolipectomy. ( 26289595 )
2015
6
Adiposis dolorosa. ( 25526345 )
2014
7
A successful case of pain management using metformin in a patient with adiposis dolorosa. ( 23611575 )
2013
8
Adiposis dolorosa (Dercum's disease): MRI and ultrasound appearances. ( 23809264 )
2013
9
Neuropeptide levels in Dercum's disease (adiposis dolorosa). ( 22842296 )
2012
10
Liposuction may reduce pain in Dercum's disease (adiposis dolorosa). ( 21481169 )
2011
11
Adiposis dolorosa of scalp presenting with severe headache: an unusual case. ( 20811764 )
2010
12
Pilot study: rapidly cycling hypobaric pressure improves pain after 5 days in adiposis dolorosa. ( 21197318 )
2010
13
Lipomatosis-associated inflammation and excess collagen may contribute to lower relative resting energy expenditure in women with adiposis dolorosa. ( 19621017 )
2009
14
Adiposis dolorosa with hypercholesterolemia and premature severe generalized atherosclerosis. ( 19817260 )
2009
15
Adiposis dolorosa as an etiology of abdominal pain. ( 18500603 )
2008
16
A rare cause of mastalgia: Dercum's disease (adiposis dolorosa). ( 19112957 )
2008
17
Dercum's disease (adiposis dolorosa): a report of improvement with infliximab and methotrexate. ( 17448013 )
2007
18
Dercum's disease (Adiposis dolorosa): delayed diagnosis in a patient with cervical cancer. ( 15690837 )
2004
19
Dercum's disease (adiposis dolorosa): a new case-report. ( 15050201 )
2004
20
Familial occurrence of adiposis dolorosa. ( 11148491 )
2001
21
Adiposis dolorosa. ( 20877043 )
2000
22
Treatment of pain in adiposis dolorosa (Dercum's disease) with intravenous lidocaine: a case report with a 10-year follow-up. ( 10354189 )
1999
23
Dercum's disease (adiposis dolorosa). ( 10396574 )
1999
24
Interferon alfa-2b induced long-term relief of pain in two patients with adiposis dolorosa and chronic hepatitis C. ( 9453446 )
1997
25
Adiposis dolorosa (Dercum's disease): 10-year follow-up. ( 7880063 )
1994
26
Hormonal and metabolic study of a case of adiposis dolorosa (Dercum's disease). ( 1342834 )
1992
27
Corticosteroid-induced juxta-articular adiposis dolorosa. ( 1990989 )
1991
28
Fat-cell heat production, adipose tissue fatty acids, lipoprotein lipase activity and plasma lipoproteins in adiposis dolorosa. ( 1662586 )
1991
29
[A case of adiposis dolorosa--Dercum's disease]. ( 1776200 )
1991
30
Adiposis dolorosa (Dercum's disease): liposuction as an effective form of treatment. ( 2300638 )
1990
31
Liposuction in the treatment of juxta-articular adiposis dolorosa. ( 2383065 )
1990
32
Improvement of juxtaarticular adiposis dolorosa by fat suction. ( 3435575 )
1987
33
Juxta-articular adiposis dolorosa associated with rheumatoid arthritis. Report of 2 cases with good response to local corticosteroid injection. ( 3442969 )
1987
34
Dercum's disease (adiposis dolorosa). Treatment of the severe pain with intravenous lidocaine. ( 3822497 )
1987
35
Long-standing pain relief of adiposis dolorosa (Dercum's disease) after intravenous infusion of lidocaine. ( 3734188 )
1986
36
A case of adiposis dolorosa: lipid metabolism and hormone secretion. ( 3771092 )
1986
37
Dercum's disease (adiposis dolorosa). A case report and review of the literature. ( 3698384 )
1986
38
Juxta-articular adiposis dolorosa--a neglected disease. ( 6643030 )
1983
39
Intravenous lidocaine for the treatment of intractable pain of adiposis dolorosa. ( 7129748 )
1982
40
Dercum's disease: adiposis dolorosa. ( 7293909 )
1981
41
Juxta-articular adiposis dolorosa: what is it? Report of 2 cases. ( 518149 )
1979
42
Management of intractable pain in adiposis dolorosa with intravenous administration of lidocaine. ( 943987 )
1976
43
Autosomal dominant inheritance in adiposis dolorosa (Dercum's disease). ( 4721343 )
1973
44
Adiposis dolorosa associated with defects of lipid metabolism. ( 4105769 )
1971
45
Adiposis dolorosa. ( 6041745 )
1967
46
Hereditary Factors in Adiposis Dolorosa (Dercum's Disease). ( 17948485 )
1963
47
Adiposis dolorosa; with report of a case. ( 18144126 )
1949
48
Adiposis dolorosa; a case history. ( 20241301 )
1947
49
A Case of Adiposis Dolorosa with Necropsy. ( 19969701 )
1926
50
Case of Adiposis Dolorosa. ( 19983505 )
1924

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

GO Terms for Adiposis Dolorosa

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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