Adiposis dolorosa
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DERCUM DISEASE Lipomatosis dolorosa Dercum' s disease Neurolipomatosis Adipose tissue rheumatism Adiposalgia |
| Number of Symptoms | 34 |
| OrphanetNr: | 36397 |
| OMIM Id: |
103200
|
| ICD-10: |
E88.2 |
| UMLs: |
C0001529 |
| MeSH: |
D000274 |
| MedDRA: |
10001294 |
| Snomed: |
71404003 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Subcutaneous tissue disease
-Rare skin disease |
Symptom Information:
|
|
(HPO:0000142) | Abnormality of the vagina | Occasional [Orphanet] | 24 / 7739 | |||
|
|
(HPO:0000217) | Xerostomia | Occasional [Orphanet] | 35 / 7739 | |||
|
|
(HPO:0001097) | Keratoconjunctivitis sicca | Occasional [Orphanet] | 25 / 7739 | |||
|
|
(HPO:0000708) | Behavioral abnormality | Very frequent [Orphanet] | 212 / 7739 | |||
|
|
(HPO:0002360) | Sleep disturbance | Occasional [Orphanet] | 113 / 7739 | |||
|
|
(HPO:0000739) | Anxiety | 67 / 7739 | ||||
|
|
(HPO:0009830) | Peripheral neuropathy | Occasional [Orphanet] | 206 / 7739 | |||
|
|
(HPO:0002354) | Memory impairment | Occasional [Orphanet] | 63 / 7739 | |||
|
|
(HPO:0012378) | Fatigue | 50 / 7739 | ||||
|
|
(HPO:0100543) | Cognitive impairment | Occasional [Orphanet] | 230 / 7739 | |||
|
|
(HPO:0012532) | Chronic pain | 3 / 7739 | ||||
|
|
(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
|
|
(HPO:0000763) | Sensory neuropathy | Occasional [Orphanet] | 78 / 7739 | |||
|
|
(HPO:0100851) | Abnormal emotion/affect behavior | Very frequent [Orphanet] | 85 / 7739 | |||
|
|
(HPO:0002315) | Headache | Occasional [Orphanet] | 175 / 7739 | |||
|
|
(HPO:0000821) | Hypothyroidism | Occasional [Orphanet] | 141 / 7739 | |||
|
|
(HPO:0002829) | Arthralgia | 79 / 7739 | ||||
|
|
(HPO:0100769) | Synovitis | Occasional [Orphanet] | 86 / 7739 | |||
|
|
(HPO:0005059) | Arthralgia/arthritis | Very frequent [Orphanet] | 141 / 7739 | |||
|
|
(HPO:0002014) | Diarrhea | Occasional [Orphanet] | 225 / 7739 | |||
|
|
(HPO:0002019) | Constipation | Occasional [Orphanet] | 194 / 7739 | |||
|
|
(HPO:0001513) | Obesity | Very frequent [Orphanet] | 172 / 7739 | |||
|
|
(HPO:0000978) | Bruising susceptibility | Occasional [Orphanet] | 123 / 7739 | |||
|
|
(HPO:0001031) | Subcutaneous lipoma | Very frequent [Orphanet] | 112 / 7739 | |||
|
|
(HPO:0100585) | Telangiectasia of the skin | Occasional [Orphanet] | 66 / 7739 | |||
|
|
(HPO:0200042) | Skin ulcer | Occasional [Orphanet] | 138 / 7739 | |||
|
|
(HPO:0002225) | Sparse pubic hair | Frequent [Orphanet] | 76 / 7739 | |||
|
|
(HPO:0007596) | Painful subcutaneous lipomas | 1 / 7739 | ||||
|
|
(HPO:0000958) | Dry skin | Occasional [Orphanet] | 152 / 7739 | |||
|
|
(HPO:0002960) | Autoimmunity | Occasional [Orphanet] | 78 / 7739 | |||
|
|
(HPO:0001324) | Muscle weakness | Very frequent [Orphanet] | 859 / 7739 | |||
|
|
(OMIM) | Painful trunk and limb subcutaneous lipomas | 1 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(HPO:0003596) | Middle age onset | 5 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
This disorder, which was first described by Dercum (1892), is characterized by painful subcutaneous lipomas in a background of obesity. It is about 5 times more frequent in females than in males. Onset of symptoms is generally in ... |