MCID: ADP001
MIFTS: 42

Adiposis Dolorosa

Categories: Rare diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Adiposis Dolorosa

MalaCards integrated aliases for Adiposis Dolorosa:

Name: Adiposis Dolorosa 53 12 72 49 24 55 41 14 69
Dercum Disease 53 12 49 24 55
Dercum's Disease 72 49 24
Adipose Tissue Rheumatism 24 55
Lipomatosis Dolorosa 24 55
Adiposalgia 24 55
Dercum-Vitaut Syndrome 24
Neurolipomatosis 55
Anders Syndrome 24
Morbus Dercum 24

Characteristics:

Orphanet epidemiological data:

55
adiposis dolorosa
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult;

OMIM:

53
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:

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


Classifications:

Orphanet: 55  
Rare skin diseases


Summaries for Adiposis Dolorosa

OMIM : 53 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 episodic pain syndrome, familial, 1, 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 are Adipogenesis and Immune response IFN alpha/beta signaling pathway. Affiliated tissues include skin and adipocyte, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

NIH Rare Diseases : 49 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. Last updated: 10/20/2016

Genetics Home Reference : 24 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 : 72 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 16)
# Related Disease Score Top Affiliating Genes
1 localized lipodystrophy 11.3
2 episodic pain syndrome, familial, 1 10.6
3 rheumatoid arthritis 10.1
4 hypercholesterolemia, autosomal dominant, 3 10.1
5 cervical cancer 10.1
6 arthritis 10.1
7 hepatitis 10.1
8 lymphedema 10.1
9 hepatitis c 10.1
10 generalized atherosclerosis 10.1
11 cervicitis 10.1
12 lipomatosis 10.1
13 headache 10.1
14 autoinflammation, lipodystrophy, and dermatosis syndrome 9.6 IL13 PSMB8
15 congenital generalized lipodystrophy 9.4 AGPAT2 ZMPSTE24
16 lipodystrophy 8.7 AGPAT2 CIDEC PSMB8 ZMPSTE24

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:

53
Skeletal:
arthralgia

Neurologic Central Nervous System:
fatigue
sleep disturbances
chronic pain

Neurologic Behavioral Psychiatric Manifestations:
depression
anxiety
difficulty concentrating
impaired memory

Muscle Soft Tissue:
painful adipose tissue
muscle aches

Abdomen Gastroin testinal:
constipation
bloating

Growth Weight:
obesity

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


Clinical features from OMIM:

103200

Human phenotypes related to Adiposis Dolorosa:

55 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002829
2 constipation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002019
3 fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0012378
4 headache 55 31 occasional (7.5%) Occasional (29-5%) HP:0002315
5 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
6 diarrhea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002014
7 dry skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0000958
8 obesity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001513
9 hypothyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000821
10 sleep disturbance 55 31 occasional (7.5%) Occasional (29-5%) HP:0002360
11 developmental regression 55 31 occasional (7.5%) Occasional (29-5%) HP:0002376
12 arthritis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001369
13 subcutaneous nodule 55 31 hallmark (90%) Very frequent (99-80%) HP:0001482
14 anxiety 55 31 hallmark (90%) Very frequent (99-80%) HP:0000739
15 autoimmunity 55 31 occasional (7.5%) Occasional (29-5%) HP:0002960
16 memory impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0002354
17 paresthesia 55 31 occasional (7.5%) Occasional (29-5%) HP:0003401
18 psychosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000709
19 telangiectasia of the skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0100585
20 xerostomia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000217
21 bruising susceptibility 55 31 occasional (7.5%) Occasional (29-5%) HP:0000978
22 recurrent skin infections 55 31 occasional (7.5%) Occasional (29-5%) HP:0001581
23 sparse pubic hair 55 31 frequent (33%) Frequent (79-30%) HP:0002225
24 sparse axillary hair 55 31 frequent (33%) Frequent (79-30%) HP:0002215
25 chronic pain 31 HP:0012532
26 depression 55 Very frequent (99-80%)
27 peripheral neuropathy 55 Occasional (29-5%)
28 abdominal distention 31 HP:0003270
29 depressivity 31 hallmark (90%) HP:0000716
30 painful subcutaneous lipomas 31 HP:0007596

UMLS symptoms related to Adiposis Dolorosa:


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

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

25
# 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:

43
# 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 Insight Into Subcutaneous Adipose Tissue Disorders Recruiting NCT02838277

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:

38
Skin, Adipocyte

Publications for Adiposis Dolorosa

Articles related to Adiposis Dolorosa:

(show top 50) (show all 55)
# Title Authors Year
1
TEMPORAL ADIPOSIS DOLOROSA. ( 26919646 )
2016
2
Imaging findings of adiposis dolorosa vs. massive localized lymphedema. ( 25672948 )
2015
3
Juxta-articular adiposis dolorosa (Dercum's disease type IV): report of four cases and treatment by dermolipectomy. ( 26289595 )
2015
4
Adiposis dolorosa. ( 25526345 )
2014
5
A successful case of pain management using metformin in a patient with adiposis dolorosa. ( 23611575 )
2013
6
Adiposis dolorosa (Dercum's disease): MRI and ultrasound appearances. ( 23809264 )
2013
7
Neuropeptide levels in Dercum's disease (adiposis dolorosa). ( 22842296 )
2012
8
Liposuction may reduce pain in Dercum's disease (adiposis dolorosa). ( 21481169 )
2011
9
Pilot study: rapidly cycling hypobaric pressure improves pain after 5 days in adiposis dolorosa. ( 21197318 )
2010
10
Adiposis dolorosa of scalp presenting with severe headache: an unusual case. ( 20811764 )
2010
11
Lipomatosis-associated inflammation and excess collagen may contribute to lower relative resting energy expenditure in women with adiposis dolorosa. ( 19621017 )
2009
12
Adiposis dolorosa with hypercholesterolemia and premature severe generalized atherosclerosis. ( 19817260 )
2009
13
Adiposis dolorosa as an etiology of abdominal pain. ( 18500603 )
2008
14
A rare cause of mastalgia: Dercum's disease (adiposis dolorosa). ( 19112957 )
2008
15
Dercum's disease (adiposis dolorosa): a report of improvement with infliximab and methotrexate. ( 17448013 )
2007
16
Dercum's disease (adiposis dolorosa): a new case-report. ( 15050201 )
2004
17
Dercum's disease (Adiposis dolorosa): delayed diagnosis in a patient with cervical cancer. ( 15690837 )
2004
18
Familial occurrence of adiposis dolorosa. ( 11148491 )
2001
19
Adiposis dolorosa. ( 20877043 )
2000
20
Dercum's disease (adiposis dolorosa). ( 10396574 )
1999
21
Treatment of pain in adiposis dolorosa (Dercum's disease) with intravenous lidocaine: a case report with a 10-year follow-up. ( 10354189 )
1999
22
Interferon alfa-2b induced long-term relief of pain in two patients with adiposis dolorosa and chronic hepatitis C. ( 9453446 )
1997
23
Adiposis dolorosa (Dercum's disease): 10-year follow-up. ( 7880063 )
1994
24
Hormonal and metabolic study of a case of adiposis dolorosa (Dercum's disease). ( 1342834 )
1992
25
Fat-cell heat production, adipose tissue fatty acids, lipoprotein lipase activity and plasma lipoproteins in adiposis dolorosa. ( 1662586 )
1991
26
Corticosteroid-induced juxta-articular adiposis dolorosa. ( 1990989 )
1991
27
Adiposis dolorosa (Dercum's disease): liposuction as an effective form of treatment. ( 2300638 )
1990
28
Liposuction in the treatment of juxta-articular adiposis dolorosa. ( 2383065 )
1990
29
Improvement of juxtaarticular adiposis dolorosa by fat suction. ( 3435575 )
1987
30
Juxta-articular adiposis dolorosa associated with rheumatoid arthritis. Report of 2 cases with good response to local corticosteroid injection. ( 3442969 )
1987
31
Dercum's disease (adiposis dolorosa). Treatment of the severe pain with intravenous lidocaine. ( 3822497 )
1987
32
A case of adiposis dolorosa: lipid metabolism and hormone secretion. ( 3771092 )
1986
33
Long-standing pain relief of adiposis dolorosa (Dercum's disease) after intravenous infusion of lidocaine. ( 3734188 )
1986
34
Dercum's disease (adiposis dolorosa). A case report and review of the literature. ( 3698384 )
1986
35
Juxta-articular adiposis dolorosa--a neglected disease. ( 6643030 )
1983
36
Intravenous lidocaine for the treatment of intractable pain of adiposis dolorosa. ( 7129748 )
1982
37
Dercum's disease: adiposis dolorosa. ( 7293909 )
1981
38
Juxta-articular adiposis dolorosa: what is it? Report of 2 cases. ( 518149 )
1979
39
Management of intractable pain in adiposis dolorosa with intravenous administration of lidocaine. ( 943987 )
1976
40
Autosomal dominant inheritance in adiposis dolorosa (Dercum's disease). ( 4721343 )
1973
41
Adiposis dolorosa associated with defects of lipid metabolism. ( 4105769 )
1971
42
Adiposis dolorosa. ( 6041745 )
1967
43
Hereditary Factors in Adiposis Dolorosa (Dercum's Disease). ( 17948485 )
1963
44
Adiposis dolorosa; with report of a case. ( 18144126 )
1949
45
Adiposis dolorosa; a case history. ( 20241301 )
1947
46
A Case of Adiposis Dolorosa with Necropsy. ( 19969701 )
1926
47
Case of Adiposis Dolorosa. ( 19983505 )
1924
48
Cases of Adiposis Dolorosa (Dercum's Disease). ( 19982794 )
1923
49
Case of Adiposis Dolorosa. ( 19982766 )
1923
50
Case of Adiposis Dolorosa. ( 19982206 )
1922

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 11.08 AGPAT2 ZMPSTE24
2
Show member pathways
10.83 IL13 PSMB8

GO Terms for Adiposis Dolorosa

Sources for Adiposis Dolorosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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