|
1
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
|
|
131 / 7739
|
|
2
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
|
3
|
(HPO:0000876)
|
Oligomenorrhea |
|
|
|
|
13 / 7739
|
|
4
|
(HPO:0000956)
|
Acanthosis nigricans |
|
|
|
|
54 / 7739
|
|
5
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
|
|
75 / 7739
|
|
6
|
(HPO:0002155)
|
Hypertriglyceridemia |
|
|
|
|
67 / 7739
|
|
7
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
|
|
|
|
42 / 7739
|
|
8
|
(HPO:0100578)
|
Lipoatrophy |
|
|
|
|
30 / 7739
|
|
9
|
(OMIM)
|
Normal facial adipose tissue |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Cushingoid appearance (2 patients) |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Normal cervical adipose tissue |
|
|
|
|
1 / 7739
|
|
12
|
(MedDRA:10053857)
|
Partial lipodystrophy |
|
|
|
|
8 / 7739
|
|
13
|
(OMIM)
|
Loss of subcutaneous adipose tissue primarily in gluteal region and lower limbs |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Lipoatrophy of trunk |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
No lipodystrophy in face and neck |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Muscular appearance |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Biopsy of adipose tissue shows reduced adipocyte size |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Increased adipose fibrosis |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000831)
|
Insulin-resistant diabetes mellitus |
|
|
|
|
22 / 7739
|
|
20
|
(OMIM)
|
Ovarian hyperandrogenemia |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|