1
|
(HPO:0000311)
|
Round face |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
2
|
(HPO:0003198)
|
Myopathy |
Occasional [Orphanet]
|
|
|
|
151 / 7739
|
3
|
(HPO:0003326)
|
Myalgia |
Occasional [Orphanet]
|
|
|
|
143 / 7739
|
4
|
(HPO:0100578)
|
Lipoatrophy |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
5
|
(HPO:0001658)
|
Myocardial infarction |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
6
|
(HPO:0001681)
|
Angina pectoris |
Occasional [Orphanet]
|
|
|
|
22 / 7739
|
7
|
(HPO:0000951)
|
Abnormality of the skin |
Frequent [Orphanet]
|
|
|
|
147 / 7739
|
8
|
(HPO:0011354)
|
Generalized abnormality of skin |
Frequent [Orphanet]
|
|
|
|
7 / 7739
|
9
|
(HPO:0001397)
|
Hepatic steatosis |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
10
|
(HPO:0000998)
|
Hypertrichosis |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
11
|
(HPO:0001007)
|
Hirsutism |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
91 / 7739
|
12
|
(HPO:0002230)
|
Generalized hirsutism |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
32 / 7739
|
13
|
(HPO:0004554)
|
Generalized hypertrichosis |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
30 / 7739
|
14
|
(HPO:0000956)
|
Acanthosis nigricans |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
15
|
(HPO:0000695)
|
Natal tooth |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
16
|
(HPO:0006288)
|
Advanced eruption of teeth |
Frequent [Orphanet]
|
|
|
|
5 / 7739
|
17
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
18
|
(HPO:0003720)
|
Generalized muscle hypertrophy |
Very frequent [Orphanet]
hallmark [HPO]
|
|
|
|
8 / 7739
|
19
|
(HPO:0100293)
|
Muscle fiber hypertrophy |
Very frequent [Orphanet]
hallmark [HPO]
|
|
|
|
6 / 7739
|
20
|
(HPO:0000963)
|
Thin skin |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
21
|
(HPO:0002621)
|
Atherosclerosis |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
22
|
(HPO:0004416)
|
Precocious atherosclerosis |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
23
|
(HPO:0005177)
|
Premature arteriosclerosis |
Frequent [Orphanet]
|
|
|
|
7 / 7739
|
24
|
(HPO:0012490)
|
Panniculitis |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
25
|
(HPO:0100658)
|
Cellulitis |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
26
|
(HPO:0001733)
|
Pancreatitis |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
27
|
(HPO:0000819)
|
Diabetes mellitus |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
28
|
(HPO:0002155)
|
Hypertriglyceridemia |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
29
|
(HPO:0003077)
|
Hyperlipidemia |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
30
|
(HPO:0003124)
|
Hypercholesterolemia |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
31
|
(Orphanet:29420)
|
Storage liver disease |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
32
|
(HPO:0008071)
|
Maternal hypertension |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
33
|
(HPO:0100601)
|
Eclampsia |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
34
|
(HPO:0100602)
|
Preeclampsia |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
35
|
(HPO:0006824)
|
Cranial nerve paralysis |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
36
|
(HPO:0010628)
|
Facial palsy |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
146 / 7739
|
37
|
(HPO:0000831)
|
Insulin-resistant diabetes mellitus |
Very frequent [Orphanet]
hallmark [HPO]
|
|
|
|
22 / 7739
|
38
|
(HPO:0000855)
|
Insulin resistance |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
39
|
(HPO:0000869)
|
Secondary amenorrhea |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
40
|
(HPO:0100805)
|
Precocious menopause |
Frequent [Orphanet]
|
|
|
|
4 / 7739
|
41
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
|
|
337 / 7739
|
42
|
(HPO:0004431)
|
Complement deficiency |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
43
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
44
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
45
|
(HPO:0000132)
|
Menorrhagia |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
46
|
(HPO:0100607)
|
Dysmenorrhea |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
47
|
(HPO:0100608)
|
Metrorrhagia |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
48
|
(HPO:0000991)
|
Xanthomatosis |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
49
|
(HPO:0001012)
|
Multiple lipomas |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
50
|
(HPO:0012032)
|
Lipoma |
Very frequent [Orphanet]
hallmark [HPO]
|
|
|
|
10 / 7739
|
51
|
(HPO:0004334)
|
Dermal atrophy |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
52
|
(HPO:0007552)
|
Abnormal subcutaneous fat tissue distribution |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
53
|
(HPO:0009064)
|
Generalized lipodystrophy |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
54
|
(HPO:0009125)
|
Lipodystrophy |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
55
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
Occasional [Orphanet]
|
|
|
|
214 / 7739
|
56
|
(HPO:0001597)
|
Abnormality of the nail |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
57
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
58
|
(HPO:0001644)
|
Dilated cardiomyopathy |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
59
|
(HPO:0000137)
|
Abnormality of the ovary |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
60
|
(HPO:0000138)
|
Ovarian cyst |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
25 / 7739
|
61
|
(HPO:0000147)
|
Polycystic ovaries |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
62
|
(HPO:0008675)
|
Enlarged polycystic ovaries |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
14 / 7739
|
63
|
(HPO:0100820)
|
Glomerulopathy |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
64
|
(HPO:0000287)
|
Increased facial adipose tissue |
|
|
|
|
3 / 7739
|
65
|
(HPO:0000468)
|
Increased adipose tissue around the neck |
|
|
|
|
3 / 7739
|
66
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
67
|
(HPO:0000842)
|
Hyperinsulinemia |
|
|
|
|
39 / 7739
|
68
|
(HPO:0003758)
|
Reduced subcutaneous adipose tissue |
|
|
|
|
27 / 7739
|
69
|
(HPO:0001015)
|
Prominent superficial veins |
|
|
|
|
7 / 7739
|
70
|
(HPO:0001677)
|
Coronary artery disease |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
71
|
(HPO:0001735)
|
Acute pancreatitis |
|
|
|
|
6 / 7739
|
72
|
(HPO:0003074)
|
Hyperglycemia |
|
|
|
|
37 / 7739
|
73
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
74
|
(HPO:0003233)
|
Hypoalphalipoproteinemia |
|
|
|
|
18 / 7739
|
75
|
(HPO:0003635)
|
Loss of subcutaneous adipose tissue in limbs |
|
|
|
|
6 / 7739
|
76
|
(HPO:0005339)
|
Abnormality of complement system |
Occasional [Orphanet]
|
|
|
|
3 / 7739
|
77
|
(HPO:0008739)
|
Labial pseudohypertrophy |
|
|
|
|
1 / 7739
|
78
|
(HPO:0008887)
|
Adipose tissue loss |
|
|
|
|
4 / 7739
|
79
|
(HPO:0008985)
|
Increased intramuscular fat |
|
|
|
|
1 / 7739
|
80
|
(HPO:0008993)
|
Increased intraabdominal fat |
|
|
|
|
1 / 7739
|
81
|
(HPO:0009002)
|
Loss of truncal subcutaneous adipose tissue |
|
|
|
|
3 / 7739
|
82
|
(HPO:0012645)
|
Enlarged peripheral nerve |
|
|
|
|
1 / 7739
|
83
|
(HPO:0100603)
|
Toxemia of pregnancy |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
84
|
(OMIM)
|
Normal or increased facial adipose tissue |
|
|
|
|
3 / 7739
|
85
|
(OMIM)
|
Normal or increased adipose tissue around the neck |
|
|
|
|
3 / 7739
|
86
|
(OMIM)
|
Pancreatitis, acute in some |
|
|
|
|
1 / 7739
|
87
|
(MedDRA:10053857)
|
Partial lipodystrophy |
|
|
|
|
8 / 7739
|
88
|
(OMIM)
|
Loss of adipose tissue occurs around puberty |
|
|
|
|
1 / 7739
|
89
|
(OMIM)
|
No lipodystrophy in face and neck |
|
|
|
|
2 / 7739
|
90
|
(OMIM)
|
Muscular appearance |
|
|
|
|
3 / 7739
|
91
|
(OMIM)
|
Skeletal muscle biopsy shows hypertrophy of type 1 and 2 muscle fibers |
|
|
|
|
1 / 7739
|
92
|
(OMIM)
|
Nonspecific myopathic changes NEUROLOGIC FEATURES : |
|
|
|
|
1 / 7739
|
93
|
(MedDRA:10029174)
|
Nerve compression |
|
|
|
|
1 / 7739
|
94
|
(OMIM)
|
Nerve entrapment syndromes |
|
|
|
|
1 / 7739
|
95
|
(OMIM)
|
Tomaculae (paranodal myelin swellings) |
|
|
|
|
1 / 7739
|