FPLD2
MCID: LPD015
MIFTS: 61

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 AMP-activated Protein Kinase (AMPK) Signaling and Glucose / Energy Metabolism. The drugs Insulin, Globin Zinc and insulin have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and liver, 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 63)
# Related Disease Score Top Affiliating Genes
1 congenital generalized lipodystrophy 32.1 AGPAT2 BSCL2 LEP LMNA
2 lipodystrophy, familial partial, type 1 31.7 INS LEP LMNA PPARG
3 lipodystrophy, congenital generalized, type 2 31.7 AGPAT2 BSCL2 LMNA PPARG
4 lipodystrophy, congenital generalized, type 1 31.3 INS BSCL2 AGPAT2 LEP LMNA
5 nonalcoholic steatohepatitis 30.3 INS LEP
6 acquired generalized lipodystrophy 30.1 PPARG LMNB2 LMNA LEP INS BSCL2
7 hyperglycemia 30.0 INS LEP PPARG
8 diabetes mellitus, noninsulin-dependent 30.0 INS LEP LMNA PPARG
9 sleep apnea 29.9 INS LEP
10 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 29.7 AGPAT2 BSCL2 INS LMNA
11 familial partial lipodystrophy 29.1 PPARG LMNA LEP INS BSCL2 AGPAT2
12 aredyld 12.2
13 diabetes mellitus 10.5
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 polycystic ovary syndrome 10.1
23 spastic paraplegia 17, autosomal dominant 10.1 AGPAT2 BSCL2
24 anovulation 10.1 INS LEP
25 maturity-onset diabetes of the young, type 10 10.1 INS PPARG
26 diabetic neuropathy 10.1 INS LEP
27 idiopathic edema 10.1 INS PPARG
28 lipodystrophy, congenital generalized, type 3 10.1 AGPAT2 BSCL2
29 monogenic diabetes 10.0 BSCL2 INS
30 inherited metabolic disorder 10.0 INS LEP
31 vascular disease 10.0
32 nonalcoholic fatty liver disease 10.0 INS LEP
33 childhood type dermatomyositis 10.0
34 ectodermal dysplasia 10.0
35 liver disease 10.0
36 dermatomyositis 10.0
37 rickets 10.0
38 ovarian disease 10.0
39 retinal degeneration 10.0
40 neuropathy 10.0
41 hereditary hypophosphatemic rickets 10.0
42 reynolds syndrome 10.0 LMNA LMNB2
43 pelger-huet anomaly 10.0 LMNA LMNB2
44 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.9 LMNA LMNB2
45 lipodystrophy, congenital generalized, type 4 9.9 AGPAT2 BSCL2 LMNA
46 pigmentation disease 9.9 AGPAT2 BSCL2 INS
47 berardinelli-seip congenital lipodystrophy 9.9 AGPAT2 BSCL2 LEP
48 abdominal obesity-metabolic syndrome 1 9.9 INS LEP PPARG
49 prediabetes syndrome 9.9 INS LEP PPARG
50 3-hydroxyacyl-coa dehydrogenase deficiency 9.9 INS LEP PPARG

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 52)
# 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 insulin-resistant diabetes mellitus 33 HP:0000831
39 prominent superficial veins 33 HP:0001015
40 hirsutism 33 HP:0001007
41 hyperglycemia 33 HP:0003074
42 coronary artery disease 60 Occasional (29-5%)
43 increased adipose tissue around the neck 33 HP:0000468
44 increased intraabdominal fat 33 HP:0008993
45 enlarged peripheral nerve 33 HP:0012645
46 reduced subcutaneous adipose tissue 33 HP:0003758
47 increased facial adipose tissue 33 HP:0000287
48 labial pseudohypertrophy 33 HP:0008739
49 increased intramuscular fat 33 HP:0008985
50 decreased hdl cholesterol concentration 33 HP:0003233

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 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 AGPAT2 BSCL2 INS LEP LMNA PPARG
2 growth/size/body region MP:0005378 10.05 AGPAT2 BSCL2 INS LEP LMNA LMNB2
3 adipose tissue MP:0005375 10.04 AGPAT2 BSCL2 INS LEP LMNA PPARG
4 cellular MP:0005384 10.02 BSCL2 INS LEP LMNA LMNB2 PPARG
5 homeostasis/metabolism MP:0005376 10.02 AGPAT2 BSCL2 INS LEP LMNA LMNB2
6 endocrine/exocrine gland MP:0005379 10 AGPAT2 BSCL2 INS LEP LMNA PPARG
7 integument MP:0010771 9.98 AGPAT2 BSCL2 INS LEP LMNA LMNB2
8 hematopoietic system MP:0005397 9.97 AGPAT2 BSCL2 INS LEP LMNA PPARG
9 mortality/aging MP:0010768 9.97 AGPAT2 BSCL2 INS LEP LMNA LMNB2
10 digestive/alimentary MP:0005381 9.93 AGPAT2 BSCL2 INS LEP LMNA
11 immune system MP:0005387 9.93 AGPAT2 BSCL2 INS LEP LMNA PPARG
12 liver/biliary system MP:0005370 9.88 AGPAT2 BSCL2 INS LEP LMNA PPARG
13 muscle MP:0005369 9.8 INS LEP LMNA LMNB2 PPARG RXRG
14 nervous system MP:0003631 9.73 INS LEP LMNA LMNB2 PPARG RXRG
15 renal/urinary system MP:0005367 9.63 AGPAT2 BSCL2 INS LEP LMNA PPARG
16 reproductive system MP:0005389 9.43 BSCL2 INS LEP LMNA LMNB2 PPARG
17 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, Globin Zinc Phase 2, Phase 3
2 insulin Phase 2, Phase 3
3
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
4 Laxatives Phase 2
5 Cathartics Phase 2
6 Gastrointestinal Agents 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 Recruiting 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, Heart, Liver, Skeletal Muscle, Ovary, B Cells, Adipocyte

Publications for Lipodystrophy, Familial Partial, Type 2

Articles related to Lipodystrophy, Familial Partial, Type 2:

(show top 50) (show all 83)
# Title Authors Year
1
A case of lipoatrophic diabetes induced by juvenile dermatomyositis. ( 28895299 )
2017
2
Lipoatrophic diabetes: a case report with a brief review of the literature. ( 19101466 )
2009
3
Metabolism of chylomicrons in patients with congenital lipoatrophic diabetes: a study with emulsion models of chylomicrons. ( 15355451 )
2004
4
Long-term leptin-replacement therapy for lipoatrophic diabetes. ( 15295061 )
2004
5
Lipoatrophic diabetes in an elderly woman: clinical course and serum adipocytokine concentrations. ( 15256772 )
2004
6
Lipoatrophic diabetes and other related syndromes. ( 12618561 )
2003
7
Lipoatrophic diabetes-associated utero-ovarian dysfunction: influence of cellular lipid deposition on norepinephrine indices. ( 12218377 )
2002
8
A case of congenital generalized lipodystrophy with lipoatrophic diabetes developing anti-insulin antibodies. ( 12207821 )
2002
9
Lipoatrophic diabetes in Irs1(-/-)/Irs3(-/-) double knockout mice. ( 12502742 )
2002
10
Lipoatrophic diabetes and end-stage liver disease secondary to nonalcoholic steatohepatitis with recurrence after liver transplantation. ( 11349722 )
2001
11
Transgenic overexpression of leptin rescues insulin resistance and diabetes in a mouse model of lipoatrophic diabetes. ( 11375346 )
2001
12
A-ZIP/F-1 mice lacking white fat: a model for understanding lipoatrophic diabetes. ( 11126232 )
2000
13
Successful outcome of pregnancy in a patient with generalized lipoatrophic diabetes mellitus. ( 11419925 )
2000
14
Successful pregnancy in a woman with lipoatrophic diabetes mellitus. A case report. ( 11077638 )
2000
15
Late-onset lipoatrophic diabetes. Phenotypic and genotypic familial studies and effect of treatment with metformin and lispro insulin analog. ( 10480788 )
1999
16
Transgenic mice lacking white fat: models for understanding human lipoatrophic diabetes. ( 10842669 )
1999
17
Lipoatrophic diabetes mellitus treated by continuous subcutaneous insulin infusion. ( 9932222 )
1998
18
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
19
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
20
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
21
No coding mutations are detected in the peroxisome proliferator- activated receptor-gamma gene in Japanese patients with lipoatrophic diabetes. ( 9356045 )
1997
22
Insulin receptor substrate-1 gene variants in lipoatrophic diabetes mellitus and non-insulin-dependent diabetes mellitus: a study of South African black and white subjects. ( 9385382 )
1997
23
Molecular scanning of beta-3-adrenergic receptor gene in total congenital lipoatrophic diabetes mellitus. ( 9329375 )
1997
24
Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent MA1llerian ducts in a Turkish boy born to consanguineous parents. ( 8862631 )
1996
25
Musculoskeletal case of the day. Congenital lipoatrophic diabetes. ( 8659390 )
1996
26
Lipoatrophic diabetes: genetic exclusion of the insulin receptor gene. ( 7829633 )
1995
27
Rheumatological manifestations of lipoatrophic diabetes. ( 7789070 )
1995
28
Lipoatrophic diabetes. ( 8471812 )
1993
29
Lipoatrophic diabetes. ( 1607489 )
1992
30
In vivo and in vitro characterization of insulin resistance in three cases of lipoatrophic diabetes. ( 2210020 )
1990
31
Successful pregnancy outcome in association with lipoatrophic diabetes mellitus. ( 2216271 )
1990
32
Metabolic studies in lipoatrophic diabetes: mechanism of hyperglycemia and evidence of resistance to insulin of lipid metabolism. ( 3292304 )
1988
33
Altered expression and function of the insulin receptor in a family with lipoatrophic diabetes. ( 2903867 )
1988
34
In vitro studies of insulin resistance in patients with lipoatrophic diabetes. Evidence for heterogeneous postbinding defects. ( 3288531 )
1988
35
Lipid metabolism in lipoatrophic diabetes. ( 3198064 )
1988
36
Case report 417: Lipoatrophic diabetes mellitus (generalized lipodystrophy). ( 3616671 )
1987
37
Physiopathological mechanisms in lipoatrophic diabetes. ( 3545934 )
1986
38
Altered glucose transport conferring post-receptor insulin resistance to a patient with lipoatrophic diabetes. ( 6397368 )
1984
39
The isolation and characterization of an insulin-releasing tetrapeptide from urines of patients with lipoatrophic diabetes. ( 6378198 )
1984
40
Recurrent ketoacidosis in acquired, total lipodystrophy (lipoatrophic diabetes). ( 6432502 )
1984
41
Very low-density lipoprotein metabolism in an unusual case of lipoatrophic diabetes. ( 6381960 )
1984
42
AREDYLD: a syndrome combining an acrorenal field defect, ectodermal dysplasia, lipoatrophic diabetes, and other manifestations. ( 6638067 )
1983
43
Lipoatrophic diabetes: endocrine dysfunction and the response to control hypertriglyceridemia. ( 6281608 )
1982
44
Cell culture studies of a patient with congenital lipoatrophic diabetes--normal insulin binding with alterations in intracellular glucose metabolism and insulin action. ( 6790904 )
1981
45
The effect of diet upon carbohydrate metabolism, insulin resistance, and blood pressure in congenital total lipoatrophic diabetes. ( 7005617 )
1980
46
Pancreatic B-cell function and abnormal urinary peptides in a boy with lipoatrophic diabetes and stenosis of the aqueduct of Sylvius. ( 7004059 )
1980
47
Effects of insulin and oral antidiabetic agents on the plasma triglyceride levels in lipoatrophic diabetes. ( 663935 )
1978
48
Lipoatrophic diabetes with aortic insufficiency. ( 702234 )
1978
49
Lipoatrophic diabetes. Report of a case. ( 153092 )
1978
50
Renal transplantation in a patient with lipoatrophic diabetes. A case report. ( 360516 )
1978

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 42)
# 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_005572.3(LMNA): c.1458G> T (p.Lys486Asn) single nucleotide variant Pathogenic rs59981161 GRCh37 Chromosome 1, 156106789: 156106789
30 LMNA NM_005572.3(LMNA): c.1458G> T (p.Lys486Asn) single nucleotide variant Pathogenic rs59981161 GRCh38 Chromosome 1, 156136998: 156136998
31 LMNA NM_005572.3(LMNA): c.1488+5G> C single nucleotide variant Pathogenic rs267607543 GRCh37 Chromosome 1, 156106824: 156106824
32 LMNA NM_005572.3(LMNA): c.1488+5G> C single nucleotide variant Pathogenic rs267607543 GRCh38 Chromosome 1, 156137033: 156137033
33 LMNA NM_170707.3(LMNA): c.1583C> G (p.Thr528Arg) single nucleotide variant Pathogenic/Likely pathogenic rs57629361 GRCh37 Chromosome 1, 156106998: 156106998
34 LMNA NM_170707.3(LMNA): c.1583C> G (p.Thr528Arg) single nucleotide variant Pathogenic/Likely pathogenic rs57629361 GRCh38 Chromosome 1, 156137207: 156137207
35 LMNA NM_005572.3(LMNA): c.184C> G (p.Arg62Gly) single nucleotide variant Pathogenic rs56793579 GRCh37 Chromosome 1, 156084893: 156084893
36 LMNA NM_005572.3(LMNA): c.184C> G (p.Arg62Gly) single nucleotide variant Pathogenic rs56793579 GRCh38 Chromosome 1, 156115102: 156115102
37 LMNA NM_170707.3(LMNA): c.1961dupG (p.Thr655Asnfs) duplication Pathogenic rs863225024 GRCh37 Chromosome 1, 156108541: 156108541
38 LMNA NM_170707.3(LMNA): c.1961dupG (p.Thr655Asnfs) duplication Pathogenic rs863225024 GRCh38 Chromosome 1, 156138750: 156138750
39 LMNA NM_170707.3(LMNA): c.29C> T (p.Thr10Ile) single nucleotide variant Pathogenic/Likely pathogenic rs57077886 GRCh37 Chromosome 1, 156084738: 156084738
40 LMNA NM_170707.3(LMNA): c.29C> T (p.Thr10Ile) single nucleotide variant Pathogenic/Likely pathogenic rs57077886 GRCh38 Chromosome 1, 156114947: 156114947
41 LMNA NM_170707.3(LMNA): c.1487C> T (p.Thr496Met) single nucleotide variant Uncertain significance rs200466188 GRCh37 Chromosome 1, 156106818: 156106818
42 LMNA NM_170707.3(LMNA): c.1487C> T (p.Thr496Met) single nucleotide variant Uncertain significance rs200466188 GRCh38 Chromosome 1, 156137027: 156137027

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 14)
# 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 9.54 INS LEP
3 cellular response to retinoic acid GO:0071300 9.52 LEP PPARG
4 regulation of blood pressure GO:0008217 9.51 LEP PPARG
5 glucose metabolic process GO:0006006 9.49 INS LEP
6 steroid hormone mediated signaling pathway GO:0043401 9.48 PPARG RXRG
7 placenta development GO:0001890 9.46 LEP PPARG
8 positive regulation of cytokine production GO:0001819 9.43 AGPAT2 LEP
9 negative regulation of lipid catabolic process GO:0050995 9.4 BSCL2 INS
10 positive regulation of insulin receptor signaling pathway GO:0046628 9.37 INS LEP
11 glucose homeostasis GO:0042593 9.33 INS LEP PPARG
12 regulation of fat cell differentiation GO:0045598 9.32 LEP PPARG
13 negative regulation of acute inflammatory response GO:0002674 8.96 INS PPARG
14 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 steroid hormone receptor activity GO:0003707 8.62 PPARG RXRG

Sources for Lipodystrophy, Familial Partial, Type 2

3 CDC
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10 dbSNP
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