Familial partial lipodystrophy, Dunnigan type

General Information (adopted from Orphanet):

Synonyms, Signs: LIPODYSTROPHY, REVERSE PARTIAL
LIPOATROPHIC DIABETES
LIPODYSTROPHY, FAMILIAL, OF LIMBS AND LOWER TRUNK
LIPODYSTROPHY, FAMILIAL PARTIAL, DUNNIGAN TYPE
FPL2
FPLD2
Familial partial lipodystrophy type 2
Dunnigan syndrome
Number of Symptoms 95
OrphanetNr: 2348
OMIM Id: 151660
ICD-10: E88.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 300 cases [Orphanet]
Inheritance:
[Orphanet]
Age of onset: Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial partial lipodystrophy
 -Rare endocrine disease
 -Rare genetic disease
 -Rare skin disease
Genetic progeroid syndrome
 -Rare genetic disease
Progeroid syndrome
 -Rare developmental defect during embryogenesis

Comment:

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

Symptom Information: Sort by abundance 

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

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial partial lipodystrophy is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Affected individuals gradually lose fat from the upper and lower extremities and the gluteal and truncal ...
Clinical Description OMIM Dunnigan et al. (1974) described an autosomal dominant disorder in 2 families from the same region of northern Scotland. Features were symmetric lipoatrophy of the trunk and limbs with rounded, full face, tuberoeruptive xanthomata, acanthosis nigricans, and insulin-resistant ...
Genotype-Phenotype Correlations OMIM In a family with an atypical form of FPLD, Speckman et al. (2000) identified an R582H mutation (150220.0016) in the LMNA gene. In a follow-up of this same family, Garg et al. (2001) reported that 2 affected sisters ...
Molecular genetics OMIM In 5 Canadian FPLD families, Cao and Hegele (2000) identified heterozygosity for a mutation in the lamin A/C gene (R482Q; 150330.0010). There were no differences in age, gender, or body mass index in Q482/R482 heterozygotes compared with R482/R482 ...