Familial partial lipodystrophy associated with PPARG mutations

General Information (adopted from Orphanet):

Synonyms, Signs: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS
FPLD3
Familial partial lipodystrophy type 3
Number of Symptoms 55
OrphanetNr: 79083
OMIM Id: 604367
ICD-10: E88.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 10 cases [Orphanet]
Inheritance:
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial partial lipodystrophy
 -Rare endocrine disease
 -Rare genetic disease
 -Rare skin disease

Comment:

Monogenic form of diabetes caused by mutations in PPARG (PMID:21127150)

Symptom Information: Sort by abundance 

1
 (HPO:0008675) Enlarged polycystic ovaries Occasional [Orphanet] occasional [HPO] 14 / 7739
2
 (HPO:0000132) Menorrhagia Very frequent [Orphanet] 40 / 7739
3
 (HPO:0000138) Ovarian cyst Occasional [Orphanet] occasional [HPO] 25 / 7739
4
 (HPO:0000786) Primary amenorrhea 61 / 7739
5
 (HPO:0100608) Metrorrhagia Very frequent [Orphanet] 5 / 7739
6
 (HPO:0100607) Dysmenorrhea Very frequent [Orphanet] 8 / 7739
7
 (HPO:0000137) Abnormality of the ovary Occasional [Orphanet] 41 / 7739
8
 (HPO:0000876) Oligomenorrhea 13 / 7739
9
 (HPO:0000140) Abnormality of the menstrual cycle Very frequent [Orphanet] 7 / 7739
10
 (HPO:0000147) Polycystic ovaries Occasional [Orphanet] 18 / 7739
11
 (HPO:0000464) Abnormality of the neck 31 / 7739
12
 (HPO:0000271) Abnormality of the face 108 / 7739
13
 (HPO:0000831) Insulin-resistant diabetes mellitus Very frequent [Orphanet] hallmark [HPO] 22 / 7739
14
 (HPO:0009800) Maternal diabetes 14 / 7739
15
 (HPO:0000842) Hyperinsulinemia 39 / 7739
16
 (HPO:0000819) Diabetes mellitus Very frequent [Orphanet] 131 / 7739
17
 (HPO:0100603) Toxemia of pregnancy Occasional [Orphanet] 7 / 7739
18
 (HPO:0008071) Maternal hypertension Occasional [Orphanet] 6 / 7739
19
 (HPO:0100602) Preeclampsia Occasional [Orphanet] 9 / 7739
20
 (HPO:0100601) Eclampsia Occasional [Orphanet] 6 / 7739
21
 (HPO:0001397) Hepatic steatosis Frequent [Orphanet] 75 / 7739
22
 (HPO:0001394) Cirrhosis Occasional [Orphanet] 102 / 7739
23
 (HPO:0001007) Hirsutism Occasional [Orphanet] occasional [HPO] 91 / 7739
24
 (HPO:0000956) Acanthosis nigricans Frequent [Orphanet] 54 / 7739
25
 (HPO:0003758) Reduced subcutaneous adipose tissue 27 / 7739
26
 (HPO:0000998) Hypertrichosis Occasional [Orphanet] 52 / 7739
27
 (HPO:0004554) Generalized hypertrichosis Occasional [Orphanet] occasional [HPO] 30 / 7739
28
 (HPO:0001015) Prominent superficial veins 7 / 7739
29
 (HPO:0002230) Generalized hirsutism Occasional [Orphanet] occasional [HPO] 32 / 7739
30
 (HPO:0007552) Abnormal subcutaneous fat tissue distribution Very frequent [Orphanet] 12 / 7739
31
 (HPO:0001677) Coronary artery disease Occasional [Orphanet] 58 / 7739
32
 (HPO:0000822) Hypertension Very frequent [Orphanet] 224 / 7739
33
 (HPO:0001658) Myocardial infarction Occasional [Orphanet] 30 / 7739
34
 (HPO:0001681) Angina pectoris Occasional [Orphanet] 22 / 7739
35
 (HPO:0000855) Insulin resistance Very frequent [Orphanet] 32 / 7739
36
 (HPO:0003119) Abnormality of lipid metabolism Very frequent [Orphanet] 60 / 7739
37
 (HPO:0003077) Hyperlipidemia Very frequent [Orphanet] 37 / 7739
38
 (HPO:0003233) Hypoalphalipoproteinemia 18 / 7739
39
 (HPO:0002155) Hypertriglyceridemia Very frequent [Orphanet] 67 / 7739
40
 (HPO:0003124) Hypercholesterolemia Very frequent [Orphanet] 53 / 7739
41
 (HPO:0002149) Hyperuricemia Frequent [Orphanet] 37 / 7739
42
 (HPO:0003074) Hyperglycemia 37 / 7739
43
 (HPO:0003011) Abnormality of the musculature 47 / 7739
44
 (HPO:0003635) Loss of subcutaneous adipose tissue in limbs 6 / 7739
45
 (HPO:0009017) Loss of gluteal subcutaneous adipose tissue 2 / 7739
46
 (HPO:0009125) Lipodystrophy Very frequent [Orphanet] 54 / 7739
47
 (HPO:0009064) Generalized lipodystrophy Very frequent [Orphanet] 17 / 7739
48
 (OMIM) Normal or decreased facial and neck adipose tissue 1 / 7739
49
 (OMIM) Loss of subcutaneous adipose tissue from gluteal region 1 / 7739
50
 (OMIM) Some subcutaneous adipose tissue may remain on upper arms 1 / 7739
51
 (OMIM) Normal or increased abdominal adipose tissue 1 / 7739
52
 (OMIM) Polycystic ovary syndrome in some 1 / 7739
53
 (OMIM) Normal adipose tissue around neck 1 / 7739
54
 (OMIM) Prominent musculature 1 / 7739
55
 (OMIM) Normal or decreased facial adipose tissue 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Barroso et al. (1999) reported a 56-year-old female who presented at age 20 with irregular menstrual periods and primary infertility. She later had 2 pregnancies, one of them by assisted conception, that were complicated by gestational diabetes and ...
Molecular genetics OMIM In a mother and son and an unrelated patient with insulin-resistant diabetes mellitus, acanthosis nigricans, hypertension, and partial lipodystrophy, Barroso et al. (1999) identified heterozygous mutations in the PPARG gene (see 601487.0007 and 601487.0008).

In affected ...