FPLD2
MCID: LPD015
MIFTS: 60

Lipodystrophy, Familial Partial, Type 2 (FPLD2)

Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Lipodystrophy, Familial Partial, Type 2

MalaCards integrated aliases for Lipodystrophy, Familial Partial, Type 2:

Name: Lipodystrophy, Familial Partial, Type 2 58 54 41
Lipoatrophic Diabetes 58 12 54 76 17
Fpld2 58 12 54 60 76
Familial Partial Lipodystrophy Type 2 12 54 60 15
Lipoatrophic Diabetes Mellitus 12 15 74
Fpl2 58 54 76
Lipodystrophy, Familial, of Limbs and Lower Trunk 58 54
Lipodystrophy, Familial Partial, Dunnigan Type 58 54
Familial Partial Lipodystrophy, Dunnigan Type 54 60
Familial Partial Lipodystrophy Dunnigan Type 12 76
Lipodystrophy, Familial Partial, 2 76 13
Familial Partial Lipodystrophy 2 30 6
Lipodystrophy, Reverse Partial 58 54
Dunnigan Syndrome 54 60
Generalized Lipoatrophy Associated with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy and Leukomelanodermic Papules 76
Familial Lipodystrophy of Limbs and Lower Trunk 12
Lipodystrophy Familial of Limbs and Lower Trunk 76
Familial Partial Lipodystrophy, Type 2 74
Familial Generalized Lipodystrophy 74
Diabetes Mellitus, Lipoatrophic 45
Reverse Partial Lipodystrophy 12
Lipodystrophy Reverse Partial 76

Characteristics:

Orphanet epidemiological data:

60
familial partial lipodystrophy, dunnigan type
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult; Age of death: adult,elderly;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset of clinical features around puberty


HPO:

33
lipodystrophy, familial partial, type 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Lipodystrophy, Familial Partial, Type 2

NIH Rare Diseases : 54 Familial partial lipodystrophy type 2 (FPLD2) is a rare, genetic disorder that affects the amount and distribution of fat (adipose tissue) in the body. Symptoms typically develop around puberty, after having normal adipose tissue in childhood. FPLD2 causes a loss of adipose tissue from the limbs, torso, buttocks and hips, while causing a buildup of adipose tissue in the face, neck, and upper back. It may also cause increased musculature. Some people with FPLD2 have areas of dark, thick skin (acanthosis nigricans), and females may have excessive hairiness (hirsutism) and menstrual abnormalities.Metabolic abnormalities develop in adolescence or adulthood, leading to signs and symptoms that may include insulin resistance, dyslipidemia, diabetes, pancreatitis (or recurrent acute pancreatitis), liver steatosis, atherosclerosis, and an increased risk of heart disease. FPLD2 is caused by mutations in the LMNA gene and inheritance is autosomal dominant. Treatment aims to correct metabolic abnormalities and manage complications. This may involve medications, monitoring the diet, and exercise. Plastic surgery may be considered by some individuals. People with FPL2 are encouraged to seek counseling and support after being diagnosed, as the disorder can cause anxiety and psychological distress. The long-term health outlook generally depends on the severity of complications such as diabetes, pancreatitis, and heart disease.

MalaCards based summary : Lipodystrophy, Familial Partial, Type 2, also known as lipoatrophic diabetes, is related to congenital generalized lipodystrophy and lipodystrophy, familial partial, type 1, and has symptoms including myalgia An important gene associated with Lipodystrophy, Familial Partial, Type 2 is LMNA (Lamin A/C), and among its related pathways/superpathways are Glucose / Energy Metabolism and AMP-activated Protein Kinase (AMPK) Signaling. The drugs insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and heart, and related phenotypes are diabetes mellitus and hepatomegaly

Disease Ontology : 12 A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy.

OMIM : 58 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 regions, resulting in a muscular appearance with prominent superficial veins. In some patients, adipose tissue accumulates on the face and neck, causing a double chin, fat neck, or cushingoid appearance. Metabolic abnormalities include insulin-resistant diabetes mellitus with acanthosis nigricans and hypertriglyceridemia; hirsutism and menstrual abnormalities occur infrequently. Familial partial lipodystrophy may also be referred to as lipoatrophic diabetes mellitus, but the essential feature is loss of subcutaneous fat (review by Garg, 2004). The disorder may be misdiagnosed as Cushing disease (see 219080) (Kobberling and Dunnigan, 1986; Garg, 2004). (151660)

UniProtKB/Swiss-Prot : 76 Lipodystrophy, familial partial, 2: A disorder characterized by the loss of subcutaneous adipose tissue in the lower parts of the body (limbs, buttocks, trunk). It is accompanied by an accumulation of adipose tissue in the face and neck causing a double chin, fat neck, or cushingoid appearance. Adipose tissue may also accumulate in the axillae, back, labia majora, and intraabdominal region. Affected patients are insulin-resistant and may develop glucose intolerance and diabetes mellitus after age 20 years, hypertriglyceridemia, and low levels of high density lipoprotein cholesterol.

Related Diseases for Lipodystrophy, Familial Partial, Type 2

Diseases in the Familial Partial Lipodystrophy family:

Lipodystrophy, Familial Partial, Type 2 Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Familial Partial, Type 7 Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Partial, Acquired Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Familial Partial, Type 5 Lipodystrophy, Familial Partial, Type 6
Familial Partial Lipodystrophy Due to Akt2 Mutations

Diseases related to Lipodystrophy, Familial Partial, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 congenital generalized lipodystrophy 32.2 AGPAT2 BSCL2 LEP LMNA
2 lipodystrophy, familial partial, type 1 31.8 INS LEP LMNA PPARG
3 lipodystrophy, congenital generalized, type 2 31.7 AGPAT2 BSCL2 LMNA PPARG
4 lipodystrophy, congenital generalized, type 1 31.4 AGPAT2 BSCL2 INS LEP LMNA
5 acquired generalized lipodystrophy 30.6 AGPAT2 BSCL2 INS LEP LMNA LMNB2
6 nonalcoholic steatohepatitis 30.3 INS LEP
7 diabetes mellitus 30.1 INS IRS4 LEP PPARG
8 hyperglycemia 30.0 INS LEP PPARG
9 diabetes mellitus, noninsulin-dependent 30.0 INS LEP LMNA PPARG
10 sleep apnea 29.9 INS LEP
11 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 29.9 AGPAT2 BSCL2 INS LMNA
12 familial partial lipodystrophy 29.0 AGPAT2 BSCL2 INS LEP LMNA PPARG
13 aredyld 12.2
14 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.2 INS LEP
15 fatty liver disease, nonalcoholic 1 10.2 INS LEP
16 fetal macrosomia 10.2 INS LEP
17 apnea, obstructive sleep 10.2 INS LEP
18 endocrine pancreas disease 10.1 INS LEP
19 pancreas disease 10.1 INS LEP
20 alstrom syndrome 10.1 INS LEP
21 sleep disorder 10.1 INS LEP
22 spastic paraplegia 17, autosomal dominant 10.1 AGPAT2 BSCL2
23 anovulation 10.1 INS LEP
24 diabetic neuropathy 10.1 INS LEP
25 maturity-onset diabetes of the young, type 10 10.1 INS PPARG
26 lipodystrophy, congenital generalized, type 3 10.1 AGPAT2 BSCL2
27 cardiomyopathy, dilated, 1a 10.0
28 mandibuloacral dysplasia with type a lipodystrophy 10.0
29 polycystic ovary syndrome 10.0
30 degos 'en cocarde' erythrokeratoderma 10.0
31 inherited metabolic disorder 10.0 INS LEP
32 idiopathic edema 10.0 INS PPARG
33 monogenic diabetes 10.0 BSCL2 INS
34 nonalcoholic fatty liver disease 10.0 INS LEP
35 vascular disease 10.0
36 hypertriglyceridemia, familial 10.0
37 vitamin d-dependent rickets, type 2a 10.0
38 childhood type dermatomyositis 10.0
39 ectodermal dysplasia 10.0
40 liver disease 10.0
41 dermatomyositis 10.0
42 rickets 10.0
43 ovarian disease 10.0
44 retinal degeneration 10.0
45 neuropathy 10.0
46 hereditary hypophosphatemic rickets 10.0
47 reynolds syndrome 10.0 LMNA LMNB2
48 pelger-huet anomaly 10.0 LMNA LMNB2
49 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.9 LMNA LMNB2
50 lipodystrophy, congenital generalized, type 4 9.9 AGPAT2 BSCL2 LMNA

Graphical network of the top 20 diseases related to Lipodystrophy, Familial Partial, Type 2:



Diseases related to Lipodystrophy, Familial Partial, Type 2

Symptoms & Phenotypes for Lipodystrophy, Familial Partial, Type 2

Human phenotypes related to Lipodystrophy, Familial Partial, Type 2:

60 33 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000819
2 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
3 lipoatrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100578
4 hypertriglyceridemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002155
5 round face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000311
6 skeletal muscle hypertrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003712
7 insulin resistance 60 33 hallmark (90%) Very frequent (99-80%) HP:0000855
8 xanthomatosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000991
9 abnormality of the nail 60 33 frequent (33%) Frequent (79-30%) HP:0001597
10 thin skin 60 33 frequent (33%) Frequent (79-30%) HP:0000963
11 secondary amenorrhea 60 33 frequent (33%) Frequent (79-30%) HP:0000869
12 advanced eruption of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0006288
13 loss of subcutaneous adipose tissue in limbs 60 33 frequent (33%) Frequent (79-30%) HP:0003635
14 acute pancreatitis 33 frequent (33%) HP:0001735
15 splenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001744
16 myopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003198
17 cranial nerve paralysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0006824
18 hypertrophic cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001639
19 acanthosis nigricans 60 33 occasional (7.5%) Occasional (29-5%) HP:0000956
20 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
21 generalized hirsutism 60 33 occasional (7.5%) Occasional (29-5%) HP:0002230
22 hepatic steatosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001397
23 pancreatitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001733
24 myalgia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003326
25 glomerulopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0100820
26 polycystic ovaries 60 33 occasional (7.5%) Occasional (29-5%) HP:0000147
27 cellulitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100658
28 dysmenorrhea 60 33 occasional (7.5%) Occasional (29-5%) HP:0100607
29 abnormality of complement system 60 33 occasional (7.5%) Occasional (29-5%) HP:0005339
30 abnormality of skeletal muscle fiber size 60 33 occasional (7.5%) Occasional (29-5%) HP:0012084
31 eclampsia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100601
32 coronary artery atherosclerosis 33 occasional (7.5%) HP:0001677
33 lipodystrophy 60 33 Very frequent (99-80%) HP:0009125
34 atherosclerosis 60 33 Frequent (79-30%) HP:0002621
35 hypertension 33 HP:0000822
36 hyperinsulinemia 33 HP:0000842
37 aplasia/hypoplasia of the skin 60 Very frequent (99-80%)
38 hypercholesterolemia 33 HP:0003124
39 insulin-resistant diabetes mellitus 33 HP:0000831
40 prominent superficial veins 33 HP:0001015
41 hirsutism 33 HP:0001007
42 hyperglycemia 33 HP:0003074
43 coronary artery disease 60 Occasional (29-5%)
44 increased adipose tissue around the neck 33 HP:0000468
45 increased intraabdominal fat 33 HP:0008993
46 loss of truncal subcutaneous adipose tissue 33 HP:0009002
47 enlarged peripheral nerve 33 HP:0012645
48 reduced subcutaneous adipose tissue 33 HP:0003758
49 increased facial adipose tissue 33 HP:0000287
50 labial pseudohypertrophy 33 HP:0008739

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
hypertension
atherosclerosis
prominent superficial veins

Laboratory Abnormalities:
hyperinsulinemia
hyperglycemia
increased serum triglycerides
decreased hdl cholesterol

Skin Nails Hair Skin:
prominent superficial veins
xanthomata
acanthosis nigricans (uncommon)

Head And Neck Neck:
normal or increased adipose tissue around the neck

Genitourinary External Genitalia Female:
labial pseudohypertrophy
polycystic ovary disease (uncommon)

Neurologic Peripheral Nervous System:
nerve compression
nerve entrapment syndromes
enlarged peripheral nerves
tomaculae (paranodal myelin swellings)

Abdomen Liver:
hepatomegaly
hepatic steatosis

Muscle Soft Tissue:
myalgia
loss of subcutaneous adipose tissue in limbs
increased intraabdominal fat
partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue)
loss of subcutaneous truncal adipose tissue
more
Head And Neck Face:
normal or increased facial adipose tissue
round, full face

Abdomen Pancreas:
pancreatitis, acute in some

Skin Nails Hair Hair:
hirsutism (uncommon)

Endocrine Features:
insulin-resistant diabetes mellitus (onset around puberty)

Clinical features from OMIM:

151660

UMLS symptoms related to Lipodystrophy, Familial Partial, Type 2:


myalgia

MGI Mouse Phenotypes related to Lipodystrophy, Familial Partial, Type 2:

47 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.04 AGPAT2 BSCL2 INS LEP LMNA LMNB2
2 adipose tissue MP:0005375 10.03 AGPAT2 BSCL2 INS LEP LMNA PPARG
3 behavior/neurological MP:0005386 10.02 AGPAT2 BSCL2 INS LEP LMNA PPARG
4 cellular MP:0005384 10.01 BSCL2 INS LEP LMNA LMNB2 PPARG
5 homeostasis/metabolism MP:0005376 10 AGPAT2 BSCL2 INS LEP LMNA LMNB2
6 endocrine/exocrine gland MP:0005379 9.99 AGPAT2 BSCL2 INS LEP LMNA PPARG
7 hematopoietic system MP:0005397 9.95 AGPAT2 BSCL2 INS LEP LMNA PPARG
8 integument MP:0010771 9.95 AGPAT2 BSCL2 INS LEP LMNA LMNB2
9 digestive/alimentary MP:0005381 9.92 AGPAT2 BSCL2 INS LEP LMNA
10 immune system MP:0005387 9.91 AGPAT2 BSCL2 INS LEP LMNA PPARG
11 mortality/aging MP:0010768 9.87 AGPAT2 BSCL2 INS LEP LMNA LMNB2
12 liver/biliary system MP:0005370 9.85 AGPAT2 BSCL2 INS LEP LMNA PPARG
13 muscle MP:0005369 9.65 INS LEP LMNA LMNB2 PPARG
14 renal/urinary system MP:0005367 9.63 AGPAT2 BSCL2 INS LEP LMNA PPARG
15 reproductive system MP:0005389 9.43 BSCL2 INS LEP LMNA LMNB2 PPARG
16 skeleton MP:0005390 9.1 AGPAT2 BSCL2 INS LEP LMNA PPARG

Drugs & Therapeutics for Lipodystrophy, Familial Partial, Type 2

Drugs for Lipodystrophy, Familial Partial, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 insulin Phase 2, Phase 3
2 Insulin, Globin Zinc Phase 2, Phase 3
3
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
4 Cathartics Phase 2
5 Gastrointestinal Agents Phase 2
6 Laxatives Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Compassionate Use of Metreleptin in Previously Treated People With Generalized Lipodystrophy Enrolling by invitation NCT02262832 Phase 3 Metreleptin
2 Compassionate Use of Metreleptin in Previously Treated People With Partial Lipodystrophy Enrolling by invitation NCT02262806 Phase 3 Metreleptin
3 Trial of Leptin Replacement Therapy in Patients With Lipodystrophy Completed NCT00896298 Phase 2, Phase 3 Leptin;Placebo
4 Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With With Familial Partial Lipodystrophy (FPL) Active, not recruiting NCT03514420 Phase 2 AKCEA-ANGPTL3-LRX
5 Leptin to Treat Lipodystrophy Completed NCT00025883 Phase 2 Metreleptin
6 Expanded Access Metreleptin Study Active, not recruiting NCT02404896 Phase 2 Metreleptin
7 Phase 2 Study of Obeticholic Acid for Lipodystrophy Patients Recruiting NCT02430077 Phase 2 Obeticholic Acid;Placebo
8 Registry for Patients With Lipodystrophy Recruiting NCT03553420
9 Lipodystrophy Connect Patient Registry Completed NCT02577952

Search NIH Clinical Center for Lipodystrophy, Familial Partial, Type 2

Cochrane evidence based reviews: diabetes mellitus, lipoatrophic

Genetic Tests for Lipodystrophy, Familial Partial, Type 2

Genetic tests related to Lipodystrophy, Familial Partial, Type 2:

# Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy 2 30 LMNA

Anatomical Context for Lipodystrophy, Familial Partial, Type 2

MalaCards organs/tissues related to Lipodystrophy, Familial Partial, Type 2:

42
Skin, Liver, Heart, Skeletal Muscle, Ovary, Pancreas, Adipocyte

Publications for Lipodystrophy, Familial Partial, Type 2

Articles related to Lipodystrophy, Familial Partial, Type 2:

(show top 50) (show all 113)
# Title Authors Year
1
Polycystic ovary syndrome in familial partial lipodystrophy type 2 (FPLD2): basic and clinical aspects. ( 30131000 )
2018
2
FPLD2 LMNA mutation R482W dysregulates iPSC-derived adipocyte function and lipid metabolism. ( 29108996 )
2018
3
Lamin A, Chromatin and FPLD2: Not Just a Peripheral Ménage-à-Trois. ( 30057899 )
2018
4
Case of lipoatrophic diabetes induced by juvenile dermatomyositis. ( 28895299 )
2017
5
Successful Treatment of an Unusual Case of FPLD2: The Role of Roux-en-Y Gastric Bypass-Case Report and Literature Review. ( 27778252 )
2017
6
The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. ( 25524705 )
2015
7
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. ( 23313286 )
2013
8
Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations. ( 23243001 )
2013
9
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. ( 19084400 )
2009
10
Lipoatrophic diabetes: a case report with a brief review of the literature. ( 19101466 )
2009
11
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660). ( 17250669 )
2007
12
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. ( 16278265 )
2006
13
Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy. ( 16415042 )
2006
14
A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2. ( 16636128 )
2006
15
Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation. ( 16174718 )
2005
16
Metabolism of chylomicrons in patients with congenital lipoatrophic diabetes: a study with emulsion models of chylomicrons. ( 15355451 )
2004
17
Lipoatrophic diabetes in an elderly woman: clinical course and serum adipocytokine concentrations. ( 15256772 )
2004
18
Long-term leptin-replacement therapy for lipoatrophic diabetes. ( 15295061 )
2004
19
Lamin a truncation in Hutchinson-Gilford progeria. ( 12702809 )
2003
20
Drawing the line in progeria syndromes. ( 12927424 )
2003
21
LMNA mutations in atypical Werner's syndrome. ( 12927431 )
2003
22
LMNA mutations in atypical Werner's syndrome. ( 14615128 )
2003
23
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. ( 12628721 )
2003
24
A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy. ( 12629077 )
2003
25
Lipoatrophic diabetes and other related syndromes. ( 12618561 )
2003
26
A case of congenital generalized lipodystrophy with lipoatrophic diabetes developing anti-insulin antibodies. ( 12207821 )
2002
27
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. ( 12196663 )
2002
28
Lipoatrophic diabetes-associated utero-ovarian dysfunction: influence of cellular lipid deposition on norepinephrine indices. ( 12218377 )
2002
29
Lipoatrophic diabetes in Irs1(-/-)/Irs3(-/-) double knockout mice. ( 12502742 )
2002
30
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. ( 11503164 )
2001
31
Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene. ( 11231979 )
2001
32
Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene. ( 11344241 )
2001
33
Lipoatrophic diabetes and end-stage liver disease secondary to nonalcoholic steatohepatitis with recurrence after liver transplantation. ( 11349722 )
2001
34
Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene. ( 11792811 )
2001
35
Transgenic overexpression of leptin rescues insulin resistance and diabetes in a mouse model of lipoatrophic diabetes. ( 11375346 )
2001
36
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. ( 10587585 )
2000
37
Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. ( 10739751 )
2000
38
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. ( 10655060 )
2000
39
Successful outcome of pregnancy in a patient with generalized lipoatrophic diabetes mellitus. ( 11419925 )
2000
40
Genetic variation in LMNA modulates plasma leptin and indices of obesity in aboriginal Canadians. ( 11015599 )
2000
41
Successful pregnancy in a woman with lipoatrophic diabetes mellitus. A case report. ( 11077638 )
2000
42
A-ZIP/F-1 mice lacking white fat: a model for understanding lipoatrophic diabetes. ( 11126232 )
2000
43
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. ( 10080180 )
1999
44
Transgenic mice lacking white fat: models for understanding human lipoatrophic diabetes. ( 10842669 )
1999
45
Late-onset lipoatrophic diabetes. Phenotypic and genotypic familial studies and effect of treatment with metformin and lispro insulin analog. ( 10480788 )
1999
46
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. ( 10580070 )
1999
47
Dysregulation of insulin-like growth factors in a case of generalized acquired lipoatrophic diabetes mellitus (Lawrence Syndrome) connected with autoantibodies against adipocyte membranes. ( 9516065 )
1998
48
Lipoatrophic diabetes mellitus treated by continuous subcutaneous insulin infusion. ( 9932222 )
1998
49
Human peroxisome proliferator-activated receptor-gamma2: genetic mapping, identification of a variant in the coding sequence, and exclusion as the gene responsible for lipoatrophic diabetes. ( 9519760 )
1998
50
Improved glucose tolerance after effective lipid-lowering therapy with bezafibrate in a patient with lipoatrophic diabetes mellitus: a putative role for Randle's cycle in its pathogenesis? ( 9156048 )
1997

Variations for Lipodystrophy, Familial Partial, Type 2

UniProtKB/Swiss-Prot genetic disease variations for Lipodystrophy, Familial Partial, Type 2:

76 (show all 16)
# Symbol AA change Variation ID SNP ID
1 LMNA p.Gly465Asp VAR_009989 rs61282106
2 LMNA p.Arg482Leu VAR_009991 rs11575937
3 LMNA p.Arg482Gln VAR_009992 rs11575937
4 LMNA p.Arg482Trp VAR_009993 rs57920071
5 LMNA p.Lys486Asn VAR_009994 rs59981161
6 LMNA p.Arg527Pro VAR_009995 rs57520892
7 LMNA p.Arg582His VAR_009998 rs57830985
8 LMNA p.Arg133Leu VAR_016913 rs60864230
9 LMNA p.Arg60Gly VAR_034706 rs28928900
10 LMNA p.Arg28Trp VAR_039748 rs59914820
11 LMNA p.Arg62Gly VAR_039755 rs56793579
12 LMNA p.Asp230Asn VAR_039770 rs61214927
13 LMNA p.Arg399Cys VAR_039778 rs58672172
14 LMNA p.Ser573Leu VAR_039789 rs60890628
15 LMNA p.Arg439Cys VAR_070181 rs62636506
16 LMNA p.Lys515Glu VAR_071968

ClinVar genetic disease variations for Lipodystrophy, Familial Partial, Type 2:

6 (show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 LMNA NM_170707.3(LMNA): c.178C> G (p.Arg60Gly) single nucleotide variant Pathogenic rs28928900 GRCh37 Chromosome 1, 156084887: 156084887
2 LMNA NM_170707.3(LMNA): c.178C> G (p.Arg60Gly) single nucleotide variant Pathogenic rs28928900 GRCh38 Chromosome 1, 156115096: 156115096
3 LMNA NM_170707.3(LMNA): c.1580G> C (p.Arg527Pro) single nucleotide variant Pathogenic rs57520892 GRCh37 Chromosome 1, 156106995: 156106995
4 LMNA NM_170707.3(LMNA): c.1580G> C (p.Arg527Pro) single nucleotide variant Pathogenic rs57520892 GRCh38 Chromosome 1, 156137204: 156137204
5 LMNA NM_170707.3(LMNA): c.1445G> A (p.Arg482Gln) single nucleotide variant Pathogenic rs11575937 GRCh37 Chromosome 1, 156106776: 156106776
6 LMNA NM_170707.3(LMNA): c.1445G> A (p.Arg482Gln) single nucleotide variant Pathogenic rs11575937 GRCh38 Chromosome 1, 156136985: 156136985
7 LMNA NM_170707.3(LMNA): c.398G> T (p.Arg133Leu) single nucleotide variant Pathogenic rs60864230 GRCh37 Chromosome 1, 156100449: 156100449
8 LMNA NM_170707.3(LMNA): c.398G> T (p.Arg133Leu) single nucleotide variant Pathogenic rs60864230 GRCh38 Chromosome 1, 156130658: 156130658
9 LMNA NM_005572.3(LMNA): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic rs57920071 GRCh37 Chromosome 1, 156106775: 156106775
10 LMNA NM_005572.3(LMNA): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic rs57920071 GRCh38 Chromosome 1, 156136984: 156136984
11 LMNA NM_170707.3(LMNA): c.1445G> T (p.Arg482Leu) single nucleotide variant Pathogenic rs11575937 GRCh37 Chromosome 1, 156106776: 156106776
12 LMNA NM_170707.3(LMNA): c.1445G> T (p.Arg482Leu) single nucleotide variant Pathogenic rs11575937 GRCh38 Chromosome 1, 156136985: 156136985
13 LMNA NM_005572.3(LMNA): c.1394G> A (p.Gly465Asp) single nucleotide variant Pathogenic rs61282106 GRCh37 Chromosome 1, 156106725: 156106725
14 LMNA NM_005572.3(LMNA): c.1394G> A (p.Gly465Asp) single nucleotide variant Pathogenic rs61282106 GRCh38 Chromosome 1, 156136934: 156136934
15 LMNA NM_170707.3(LMNA): c.1745G> A (p.Arg582His) single nucleotide variant Pathogenic rs57830985 GRCh37 Chromosome 1, 156108325: 156108325
16 LMNA NM_170707.3(LMNA): c.1745G> A (p.Arg582His) single nucleotide variant Pathogenic rs57830985 GRCh38 Chromosome 1, 156138534: 156138534
17 LMNA NM_170707.3(LMNA): c.1718C> T (p.Ser573Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs60890628 GRCh37 Chromosome 1, 156108298: 156108298
18 LMNA NM_170707.3(LMNA): c.1718C> T (p.Ser573Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs60890628 GRCh38 Chromosome 1, 156138507: 156138507
19 LMNA NM_170707.3(LMNA): c.688G> A (p.Asp230Asn) single nucleotide variant Pathogenic rs61214927 GRCh37 Chromosome 1, 156104644: 156104644
20 LMNA NM_170707.3(LMNA): c.688G> A (p.Asp230Asn) single nucleotide variant Pathogenic rs61214927 GRCh38 Chromosome 1, 156134853: 156134853
21 LMNA NM_170707.3(LMNA): c.1195C> T (p.Arg399Cys) single nucleotide variant Uncertain significance rs58672172 GRCh37 Chromosome 1, 156106042: 156106042
22 LMNA NM_170707.3(LMNA): c.1195C> T (p.Arg399Cys) single nucleotide variant Uncertain significance rs58672172 GRCh38 Chromosome 1, 156136251: 156136251
23 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh37 Chromosome 1, 156105827: 156105827
24 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh38 Chromosome 1, 156136036: 156136036
25 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh37 Chromosome 1, 156105758: 156105758
26 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh38 Chromosome 1, 156135967: 156135967
27 LMNA NM_170707.3(LMNA): c.1045C> T (p.Arg349Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267607555 GRCh37 Chromosome 1, 156105800: 156105800
28 LMNA NM_170707.3(LMNA): c.1045C> T (p.Arg349Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267607555 GRCh38 Chromosome 1, 156136009: 156136009
29 LMNA NM_170707.3(LMNA): c.1243G> A (p.Val415Ile) single nucleotide variant Uncertain significance rs267607606 GRCh37 Chromosome 1, 156106090: 156106090
30 LMNA NM_170707.3(LMNA): c.1243G> A (p.Val415Ile) single nucleotide variant Uncertain significance rs267607606 GRCh38 Chromosome 1, 156136299: 156136299
31 LMNA NM_005572.3(LMNA): c.1458G> T (p.Lys486Asn) single nucleotide variant Pathogenic rs59981161 GRCh37 Chromosome 1, 156106789: 156106789
32 LMNA NM_005572.3(LMNA): c.1458G> T (p.Lys486Asn) single nucleotide variant Pathogenic rs59981161 GRCh38 Chromosome 1, 156136998: 156136998
33 LMNA NM_005572.3(LMNA): c.1488+5G> C single nucleotide variant Pathogenic rs267607543 GRCh37 Chromosome 1, 156106824: 156106824
34 LMNA NM_005572.3(LMNA): c.1488+5G> C single nucleotide variant Pathogenic rs267607543 GRCh38 Chromosome 1, 156137033: 156137033
35 LMNA NM_170707.3(LMNA): c.1583C> G (p.Thr528Arg) single nucleotide variant Pathogenic/Likely pathogenic rs57629361 GRCh37 Chromosome 1, 156106998: 156106998
36 LMNA NM_170707.3(LMNA): c.1583C> G (p.Thr528Arg) single nucleotide variant Pathogenic/Likely pathogenic rs57629361 GRCh38 Chromosome 1, 156137207: 156137207
37 LMNA NM_005572.3(LMNA): c.184C> G (p.Arg62Gly) single nucleotide variant Pathogenic rs56793579 GRCh37 Chromosome 1, 156084893: 156084893
38 LMNA NM_005572.3(LMNA): c.184C> G (p.Arg62Gly) single nucleotide variant Pathogenic rs56793579 GRCh38 Chromosome 1, 156115102: 156115102
39 LMNA NM_170707.3(LMNA): c.1961dupG (p.Thr655Asnfs) duplication Pathogenic rs863225024 GRCh37 Chromosome 1, 156108541: 156108541
40 LMNA NM_170707.3(LMNA): c.1961dupG (p.Thr655Asnfs) duplication Pathogenic rs863225024 GRCh38 Chromosome 1, 156138750: 156138750
41 LMNA NM_170707.3(LMNA): c.29C> T (p.Thr10Ile) single nucleotide variant Pathogenic/Likely pathogenic rs57077886 GRCh37 Chromosome 1, 156084738: 156084738
42 LMNA NM_170707.3(LMNA): c.29C> T (p.Thr10Ile) single nucleotide variant Pathogenic/Likely pathogenic rs57077886 GRCh38 Chromosome 1, 156114947: 156114947
43 LMNA NM_170707.3(LMNA): c.1381-5G> A single nucleotide variant Uncertain significance rs730880133 GRCh37 Chromosome 1, 156106707: 156106707
44 LMNA NM_170707.3(LMNA): c.1381-5G> A single nucleotide variant Uncertain significance rs730880133 GRCh38 Chromosome 1, 156136916: 156136916
45 LMNA NM_170707.3(LMNA): c.1487C> T (p.Thr496Met) single nucleotide variant Uncertain significance rs200466188 GRCh37 Chromosome 1, 156106818: 156106818
46 LMNA NM_170707.3(LMNA): c.1487C> T (p.Thr496Met) single nucleotide variant Uncertain significance rs200466188 GRCh38 Chromosome 1, 156137027: 156137027
47 LMNA NM_001257374.2(LMNA): c.1420G> A (p.Val474Met) single nucleotide variant Uncertain significance rs758048062 GRCh38 Chromosome 1, 156138545: 156138545
48 LMNA NM_001257374.2(LMNA): c.1420G> A (p.Val474Met) single nucleotide variant Uncertain significance rs758048062 GRCh37 Chromosome 1, 156108336: 156108336

Expression for Lipodystrophy, Familial Partial, Type 2

Search GEO for disease gene expression data for Lipodystrophy, Familial Partial, Type 2.

Pathways for Lipodystrophy, Familial Partial, Type 2

GO Terms for Lipodystrophy, Familial Partial, Type 2

Cellular components related to Lipodystrophy, Familial Partial, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lamin filament GO:0005638 8.62 LMNA LMNB2

Biological processes related to Lipodystrophy, Familial Partial, Type 2 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.56 AGPAT2 BSCL2 LEP PPARG
2 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.52 INS LEP
3 cellular response to retinoic acid GO:0071300 9.51 LEP PPARG
4 regulation of blood pressure GO:0008217 9.49 LEP PPARG
5 glucose metabolic process GO:0006006 9.48 INS LEP
6 placenta development GO:0001890 9.46 LEP PPARG
7 positive regulation of cytokine production GO:0001819 9.43 AGPAT2 LEP
8 negative regulation of lipid catabolic process GO:0050995 9.4 BSCL2 INS
9 positive regulation of insulin receptor signaling pathway GO:0046628 9.37 INS LEP
10 glucose homeostasis GO:0042593 9.33 INS LEP PPARG
11 regulation of fat cell differentiation GO:0045598 9.32 LEP PPARG
12 negative regulation of acute inflammatory response GO:0002674 8.96 INS PPARG
13 regulation of protein localization to nucleus GO:1900180 8.62 LEP LMNA

Molecular functions related to Lipodystrophy, Familial Partial, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 insulin receptor binding GO:0005158 8.62 INS IRS4

Sources for Lipodystrophy, Familial Partial, Type 2

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