MCID: ADP001
MIFTS: 38

Adiposis Dolorosa

Categories: Rare diseases, Skin diseases, Neuronal diseases

Aliases & Classifications for Adiposis Dolorosa

MalaCards integrated aliases for Adiposis Dolorosa:

Name: Adiposis Dolorosa 54 12 50 25 56 42 14 69
Dercum Disease 12 50 25 56
Adipose Tissue Rheumatism 25 56
Lipomatosis Dolorosa 25 56
Dercum's Disease 50 25
Adiposalgia 25 56
Dercum-Vitaut Syndrome 25
Neurolipomatosis 56
Anders Syndrome 25
Morbus Dercum 25

Characteristics:

Orphanet epidemiological data:

56
adiposis dolorosa
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult;

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:

Orphanet: 56  
Rare skin diseases


Summaries for Adiposis Dolorosa

OMIM : 54
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 headache, and has symptoms including diarrhea, headache and seizures. 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 adipose tissue

NIH Rare Diseases : 50 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 : 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 : 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)
id Related Disease Score Top Affiliating Genes
1 localized lipodystrophy 11.1
2 headache 10.0
3 rheumatoid arthritis 10.0
4 arthritis 10.0
5 atherosclerosis 10.0
6 hepatitis 10.0
7 lymphedema 10.0
8 hepatitis c 10.0
9 generalized atherosclerosis 10.0
10 cervicitis 10.0
11 lipomatosis 10.0
12 ragweed sensitivity 9.9 IL13 PSMB8
13 mandibuloacral dysplasia 9.3 AGPAT2 ZMPSTE24
14 inflammatory bowel disease 9.1 AGPAT2 ZMPSTE24
15 mature gastric teratoma 8.4 AGPAT2 CIDEC PSMB8 ZMPSTE24
16 kleine-levin hibernation syndrome 8.0 AGPAT2 CIDEC IL13 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:

54

Neurologic- Central Nervous System:
sleep disturbances
fatigue
chronic pain

Abdomen- Gastroin testinal:
constipation
bloating

Skeletal:
arthralgia

Muscle Soft Tissue:
painful adipose tissue
muscle aches

Neurologic- Behavioral Psychiatric Manifestations:
depression
anxiety
impaired memory
difficulty concentrating

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:

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diarrhea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002014
2 headache 56 32 occasional (7.5%) Occasional (29-5%) HP:0002315
3 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 fatigue 56 32 hallmark (90%) Very frequent (99-80%) HP:0012378
5 depression 56 32 hallmark (90%) Very frequent (99-80%) HP:0000716
6 constipation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002019
7 arthritis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001369
8 psychosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000709
9 memory impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0002354
10 dry skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0000958
11 recurrent skin infections 56 32 occasional (7.5%) Occasional (29-5%) HP:0001581
12 obesity 56 32 hallmark (90%) Very frequent (99-80%) HP:0001513
13 hypothyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000821
14 developmental regression 56 32 occasional (7.5%) Occasional (29-5%) HP:0002376
15 anxiety 56 32 hallmark (90%) Very frequent (99-80%) HP:0000739
16 arthralgia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002829
17 xerostomia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000217
18 sparse pubic hair 56 32 frequent (33%) Frequent (79-30%) HP:0002225
19 sparse axillary hair 56 32 frequent (33%) Frequent (79-30%) HP:0002215
20 paresthesia 56 32 occasional (7.5%) Occasional (29-5%) HP:0003401
21 sleep disturbance 56 32 occasional (7.5%) Occasional (29-5%) HP:0002360
22 subcutaneous nodule 56 32 hallmark (90%) Very frequent (99-80%) HP:0001482
23 autoimmunity 56 32 occasional (7.5%) Occasional (29-5%) HP:0002960
24 bruising susceptibility 56 32 occasional (7.5%) Occasional (29-5%) HP:0000978
25 peripheral neuropathy 56 Occasional (29-5%)
26 chronic pain 32 HP:0012532
27 teleangiectasia of the skin 56 Occasional (29-5%)
28 painful subcutaneous lipomas 32 HP:0007596
29 telangiectasia of the skin 32 occasional (7.5%) HP:0100585

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
id 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:

44
id 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:


id 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:

39
Skin, Adipocyte

Publications for Adiposis Dolorosa

Articles related to Adiposis Dolorosa:

(show top 50) (show all 55)
id Title Authors Year
1
TEMPORAL ADIPOSIS DOLOROSA. ( 26919646 )
2016
2
Juxta-articular adiposis dolorosa (Dercum's disease type IV): report of four cases and treatment by dermolipectomy. ( 26289595 )
2015
3
Imaging findings of adiposis dolorosa vs. massive localized lymphedema. ( 25672948 )
2015
4
Adiposis dolorosa. ( 25526345 )
2014
5
Adiposis dolorosa (Dercum's disease): MRI and ultrasound appearances. ( 23809264 )
2013
6
A successful case of pain management using metformin in a patient with adiposis dolorosa. ( 23611575 )
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
A rare cause of mastalgia: Dercum's disease (adiposis dolorosa). ( 19112957 )
2008
14
Adiposis dolorosa as an etiology of abdominal pain. ( 18500603 )
2008
15
Dercum's disease (adiposis dolorosa): a report of improvement with infliximab and methotrexate. ( 17448013 )
2007
16
Dercum's disease (Adiposis dolorosa): delayed diagnosis in a patient with cervical cancer. ( 15690837 )
2004
17
Dercum's disease (adiposis dolorosa): a new case-report. ( 15050201 )
2004
18
Familial occurrence of adiposis dolorosa. ( 11148491 )
2001
19
Adiposis dolorosa. ( 20877043 )
2000
20
Treatment of pain in adiposis dolorosa (Dercum's disease) with intravenous lidocaine: a case report with a 10-year follow-up. ( 10354189 )
1999
21
Dercum's disease (adiposis dolorosa). ( 10396574 )
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
Liposuction in the treatment of juxta-articular adiposis dolorosa. ( 2383065 )
1990
28
Adiposis dolorosa (Dercum's disease): liposuction as an effective form of treatment. ( 2300638 )
1990
29
Dercum's disease (adiposis dolorosa). Treatment of the severe pain with intravenous lidocaine. ( 3822497 )
1987
30
Improvement of juxtaarticular adiposis dolorosa by fat suction. ( 3435575 )
1987
31
Juxta-articular adiposis dolorosa associated with rheumatoid arthritis. Report of 2 cases with good response to local corticosteroid injection. ( 3442969 )
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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....