Lipedema

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr: 77243
OMIM Id: 614103
ICD-10: E65
UMLs: C0398370
MeSH:
MedDRA: 10063955
Snomed: 234102003

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic subcutaneous tissue disease
 -Rare genetic disease
Lymphedema
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Subcutaneous tissue disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0001513) Obesity Occasional [Orphanet] 172 / 7739
2
(HPO:0010783) Erythema Frequent [Orphanet] 138 / 7739
3
(HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
4
(HPO:0001031) Subcutaneous lipoma Frequent [Orphanet] 112 / 7739
5
(HPO:0001004) Lymphedema Occasional [Orphanet] 62 / 7739
6
(HPO:0010741) Edema of the lower limbs Very frequent [Orphanet] 34 / 7739
7
(HPO:0100695) Lipedema 1 / 7739
8
(HPO:0009125) Lipodystrophy Very frequent [Orphanet] 54 / 7739
9
(HPO:0003549) Abnormality of connective tissue Occasional [Orphanet] 22 / 7739
10
(OMIM) Excess fat, symmetrically located in buttocks and lower extremities to ankles 1 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
(OMIM) Easy bruisability of lower extremities 1 / 7739
13
(OMIM) Tenderness of lower extremities 1 / 7739
14
(OMIM) Burning or tingling of plantar surface of foot (in some patients) 1 / 7739
15
(OMIM) Dependent edema after excess fat has been present for several years 1 / 7739
16
(OMIM) Fat pad anterior to malleolus 1 / 7739
17
(OMIM) Fat pad between Achilles tendon and medial malleolus 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Lipedema is a disorder of adipose tissue characterized by fat legs and orthostatic edema. Characteristically, the buttocks and other parts of the lower extremities are symmetrically enlarged owing to accumulation of excess fat and fluid. The condition affects ...
Clinical Description OMIM Wold et al. (1951) reviewed 119 cases of lipedema in patients examined at the Mayo Clinic between 1937 and 1946, 19 (16%) of whom reported a positive family history. There was 1 male patient who presented in the ...