Primary lipodystrophy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 21
OrphanetNr: 90970
OMIM Id:
ICD-10: E88.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 1 of 100 000 [Orphanet]
Inheritance:
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic subcutaneous tissue disease
 -Rare genetic disease
Rare endocrine disease
 -Rare endocrine disease
Subcutaneous tissue disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000858) Menstrual irregularities Occasional [Orphanet] 42 / 7739
2
 (HPO:0000137) Abnormality of the ovary Occasional [Orphanet] 41 / 7739
3
 (HPO:0005978) Type II diabetes mellitus Very frequent [Orphanet] 68 / 7739
4
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
5
 (HPO:0001394) Cirrhosis Occasional [Orphanet] 102 / 7739
6
 (HPO:0001397) Hepatic steatosis Occasional [Orphanet] 75 / 7739
7
 (HPO:0001733) Pancreatitis Occasional [Orphanet] 46 / 7739
8
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
9
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
10
 (HPO:0002621) Atherosclerosis Frequent [Orphanet] 33 / 7739
11
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
12
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
13
 (HPO:0001677) Coronary artery disease Occasional [Orphanet] 58 / 7739
14
 (HPO:0000822) Hypertension Frequent [Orphanet] 224 / 7739
15
 (HPO:0000855) Insulin resistance Very frequent [Orphanet] 32 / 7739
16
 (HPO:0003119) Abnormality of lipid metabolism Very frequent [Orphanet] 60 / 7739
17
 (HPO:0001012) Multiple lipomas Very frequent [Orphanet] 43 / 7739
18
 (HPO:0003326) Myalgia Occasional [Orphanet] 143 / 7739
19
 (HPO:0003712) Skeletal muscle hypertrophy Very frequent [Orphanet] 42 / 7739
20
 (HPO:0003198) Myopathy Frequent [Orphanet] 151 / 7739
21
 (HPO:0009125) Lipodystrophy Very frequent [Orphanet] 54 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: