MCID: LPD015
MIFTS: 55

Lipodystrophy, Familial Partial, Type 2

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

Aliases & Classifications for Lipodystrophy, Familial Partial, Type 2

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

Name: Lipodystrophy, Familial Partial, Type 2 53 49
Lipoatrophic Diabetes 53 12 49 71 14
Fpld2 53 49 55 71
Fpl2 53 49 71
Lipodystrophy, Familial, of Limbs and Lower Trunk 53 49
Lipodystrophy, Familial Partial, Dunnigan Type 53 49
Familial Partial Lipodystrophy, Dunnigan Type 49 55
Familial Partial Lipodystrophy Type 2 49 55
Lipodystrophy, Familial Partial, 2 71 13
Lipodystrophy, Reverse Partial 53 49
Dunnigan Syndrome 49 55
Generalized Lipoatrophy Associated with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy and Leukomelanodermic Papules 71
Lipodystrophy Familial of Limbs and Lower Trunk 71
Familial Partial Lipodystrophy Dunnigan Type 71
Familial Partial Lipodystrophy, Type 2 69
Familial Generalized Lipodystrophy 69
Familial Partial Lipodystrophy 2 28
Diabetes Mellitus, Lipoatrophic 41
Lipoatrophic Diabetes Mellitus 69
Lipodystrophy Reverse Partial 71

Characteristics:

Orphanet epidemiological data:

55
familial partial lipodystrophy, dunnigan type
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult; Age of death: adult,elderly;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset of clinical features around puberty


HPO:

31
lipodystrophy, familial partial, type 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Lipodystrophy, Familial Partial, Type 2

OMIM : 53 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)

MalaCards based summary : Lipodystrophy, Familial Partial, Type 2, also known as lipoatrophic diabetes, is related to congenital generalized lipodystrophy and familial partial lipodystrophy, and has symptoms including myalgia, diabetes mellitus and splenomegaly. An important gene associated with Lipodystrophy, Familial Partial, Type 2 is LMNA (Lamin A/C), and among its related pathways/superpathways are Regulation of lipid metabolism Insulin signaling-generic cascades and Vascular smooth muscle contraction. The drugs insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and skeletal muscle, and related phenotypes are adipose tissue and pigmentation

Disease Ontology : 12 A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes.

NIH Rare Diseases : 49 Familial partial lipodystrophy type 2 is a rare genetic condition that affects the amount and distribution of fat in the body. It is characterized by a loss of fatty tissue from the torso, buttocks, and limbs and a buildup of fat in the face, neck, shoulders and abdomen. Symptoms typically develop around puberty. This condition can be associated with a number of metabolic complications, including insulin resistance, high blood cholesterol levels (dyslipidemia), diabetes, and liver steatosis. These metabolic complications lead to an increased risk for cardiovascular disease. Familial partial lipodystrophy type 2 is caused by mutations in the LMNA gene. It is inherited in an autosomal dominant manner. Treatment includes correction of metabolic abnormalities and management of complications through diet, exercise, and medications.    Last updated: 7/3/2016

UniProtKB/Swiss-Prot : 71 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 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 all 38)
# Related Disease Score Top Affiliating Genes
1 congenital generalized lipodystrophy 32.1 INS LEP LMNA
2 familial partial lipodystrophy 29.7 INS LEP LMNA
3 lipodystrophy 29.7 INS LEP LMNA
4 aredyld 12.0
5 lipodystrophy, congenital generalized, type 2 11.4
6 lipodystrophy, familial partial, type 1 11.3
7 lipodystrophy, congenital generalized, type 1 11.2
8 acquired generalized lipodystrophy 11.2
9 diabetes mellitus 10.3
10 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.1 INS LEP
11 abdominal obesity-metabolic syndrome 1 10.1 INS LEP
12 lutheran suppressor, x-linked 10.1 INS LEP
13 fetal macrosomia 10.1 INS LEP
14 nonalcoholic steatohepatitis 10.1 INS LEP
15 prediabetes syndrome 10.1 INS LEP
16 apnea, obstructive sleep 10.1 INS LEP
17 alstrom syndrome 10.1 INS LEP
18 endocrine pancreas disease 10.1 INS LEP
19 anovulation 10.1 INS LEP
20 pancreas disease 10.1 INS LEP
21 inherited metabolic disorder 10.1 INS LEP
22 sleep apnea 10.1 INS LEP
23 uremia 10.1 INS LEP
24 overnutrition 10.1 INS LEP
25 morbid obesity 10.1 INS LEP
26 lipid metabolism disorder 10.1 INS LEP
27 glucose metabolism disease 10.0 INS LEP
28 arteries, anomalies of 10.0 INS LEP
29 acquired metabolic disease 10.0 INS LEP
30 hyperthyroidism 10.0 INS LEP
31 gestational diabetes 10.0 INS LEP
32 insulin-like growth factor i 10.0 INS LEP
33 hyperinsulinism 9.9 INS LEP
34 glucose intolerance 9.9 INS LEP
35 acanthosis nigricans 9.8 INS LEP LMNA
36 chronic kidney failure 9.8 INS LEP
37 polycystic ovary syndrome 9.6 INS LEP
38 diabetes mellitus, noninsulin-dependent 9.6 INS LEP 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

Symptoms via clinical synopsis from OMIM:

53
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
Abdomen Liver:
hepatomegaly
hepatic steatosis

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)

Cardiovascular Vascular:
hypertension
atherosclerosis
prominent superficial veins

Laboratory Abnormalities:
hyperinsulinemia
hyperglycemia
increased serum triglycerides
decreased hdl cholesterol

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

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

55 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myalgia 55 31 occasional (7.5%) Occasional (29-5%) HP:0003326
2 diabetes mellitus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000819
3 splenomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001744
4 hepatomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002240
5 myopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003198
6 cranial nerve paralysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0006824
7 abnormality of the nail 55 31 frequent (33%) Frequent (79-30%) HP:0001597
8 lipoatrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0100578
9 hypertrophic cardiomyopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001639
10 hypertriglyceridemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002155
11 acanthosis nigricans 55 31 occasional (7.5%) Occasional (29-5%) HP:0000956
12 thin skin 55 31 frequent (33%) Frequent (79-30%) HP:0000963
13 congestive heart failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0001635
14 generalized hirsutism 55 31 occasional (7.5%) Occasional (29-5%) HP:0002230
15 secondary amenorrhea 55 31 frequent (33%) Frequent (79-30%) HP:0000869
16 hepatic steatosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001397
17 pancreatitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001733
18 glomerulopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0100820
19 polycystic ovaries 55 31 occasional (7.5%) Occasional (29-5%) HP:0000147
20 round face 55 31 hallmark (90%) Very frequent (99-80%) HP:0000311
21 cellulitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100658
22 skeletal muscle hypertrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0003712
23 advanced eruption of teeth 55 31 frequent (33%) Frequent (79-30%) HP:0006288
24 atherosclerosis 55 31 Frequent (79-30%) HP:0002621
25 dysmenorrhea 55 31 occasional (7.5%) Occasional (29-5%) HP:0100607
26 insulin resistance 55 31 hallmark (90%) Very frequent (99-80%) HP:0000855
27 xanthomatosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000991
28 lipodystrophy 55 31 Very frequent (99-80%) HP:0009125
29 abnormality of complement system 55 31 occasional (7.5%) Occasional (29-5%) HP:0005339
30 loss of subcutaneous adipose tissue in limbs 55 31 frequent (33%) Frequent (79-30%) HP:0003635
31 abnormality of skeletal muscle fiber size 55 31 occasional (7.5%) Occasional (29-5%) HP:0012084
32 eclampsia 55 31 occasional (7.5%) Occasional (29-5%) HP:0100601
33 hypertension 31 HP:0000822
34 hyperinsulinemia 31 HP:0000842
35 aplasia/hypoplasia of the skin 55 Very frequent (99-80%)
36 insulin-resistant diabetes mellitus 31 HP:0000831
37 prominent superficial veins 31 HP:0001015
38 hirsutism 31 HP:0001007
39 hyperglycemia 31 HP:0003074
40 coronary artery disease 55 Occasional (29-5%)
41 increased adipose tissue around the neck 31 HP:0000468
42 increased intraabdominal fat 31 HP:0008993
43 enlarged peripheral nerve 31 HP:0012645
44 reduced subcutaneous adipose tissue 31 HP:0003758
45 increased facial adipose tissue 31 HP:0000287
46 acute pancreatitis 31 frequent (33%) HP:0001735
47 labial pseudohypertrophy 31 HP:0008739
48 increased intramuscular fat 31 HP:0008985
49 coronary artery atherosclerosis 31 occasional (7.5%) HP:0001677
50 decreased circulating high-density lipoprotein levels 31 HP:0003233

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


myalgia

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.55 LMNA PDE3B GFPT2 INS LEP
2 pigmentation MP:0001186 9.13 LMNA PDE3B LEP
3 vision/eye MP:0005391 8.92 LMNA GFPT2 INS LEP

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 Trial of Leptin Replacement Therapy in Patients With Lipodystrophy Completed NCT00896298 Phase 2, Phase 3 Leptin;Placebo
2 Compassionate Use of Metreleptin in Previously Treated People With Generalized Lipodystrophy Enrolling by invitation NCT02262832 Phase 3 Metreleptin
3 Compassionate Use of Metreleptin in Previously Treated People With Partial Lipodystrophy Enrolling by invitation NCT02262806 Phase 3 Metreleptin
4 Leptin to Treat Lipodystrophy Completed NCT00025883 Phase 2 Metreleptin
5 Phase 2 Study of Obeticholic Acid for Lipodystrophy Patients Recruiting NCT02430077 Phase 2 Obeticholic Acid;Placebo
6 Expanded Access Metreleptin Study Active, not recruiting NCT02404896 Phase 2 Metreleptin
7 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 28 LMNA

Anatomical Context for Lipodystrophy, Familial Partial, Type 2

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

38
Liver, Skin, Skeletal Muscle, Ovary, Heart

Publications for Lipodystrophy, Familial Partial, Type 2

Articles related to Lipodystrophy, Familial Partial, Type 2:

(show top 50) (show all 82)
# 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
Long-term leptin-replacement therapy for lipoatrophic diabetes. ( 15295061 )
2004
4
Lipoatrophic diabetes in an elderly woman: clinical course and serum adipocytokine concentrations. ( 15256772 )
2004
5
Metabolism of chylomicrons in patients with congenital lipoatrophic diabetes: a study with emulsion models of chylomicrons. ( 15355451 )
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
Lipoatrophic diabetes in Irs1(-/-)/Irs3(-/-) double knockout mice. ( 12502742 )
2002
9
A case of congenital generalized lipodystrophy with lipoatrophic diabetes developing anti-insulin antibodies. ( 12207821 )
2002
10
Transgenic overexpression of leptin rescues insulin resistance and diabetes in a mouse model of lipoatrophic diabetes. ( 11375346 )
2001
11
Lipoatrophic diabetes and end-stage liver disease secondary to nonalcoholic steatohepatitis with recurrence after liver transplantation. ( 11349722 )
2001
12
Successful pregnancy in a woman with lipoatrophic diabetes mellitus. A case report. ( 11077638 )
2000
13
Successful outcome of pregnancy in a patient with generalized lipoatrophic diabetes mellitus. ( 11419925 )
2000
14
A-ZIP/F-1 mice lacking white fat: a model for understanding lipoatrophic diabetes. ( 11126232 )
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
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
18
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
19
Lipoatrophic diabetes mellitus treated by continuous subcutaneous insulin infusion. ( 9932222 )
1998
20
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
21
Molecular scanning of beta-3-adrenergic receptor gene in total congenital lipoatrophic diabetes mellitus. ( 9329375 )
1997
22
No coding mutations are detected in the peroxisome proliferator- activated receptor-gamma gene in Japanese patients with lipoatrophic diabetes. ( 9356045 )
1997
23
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
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
Very low-density lipoprotein metabolism in an unusual case of lipoatrophic diabetes. ( 6381960 )
1984
39
Recurrent ketoacidosis in acquired, total lipodystrophy (lipoatrophic diabetes). ( 6432502 )
1984
40
The isolation and characterization of an insulin-releasing tetrapeptide from urines of patients with lipoatrophic diabetes. ( 6378198 )
1984
41
Altered glucose transport conferring post-receptor insulin resistance to a patient with lipoatrophic diabetes. ( 6397368 )
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
Lipoatrophic diabetes. Report of a case. ( 153092 )
1978
48
Lipoatrophic diabetes with aortic insufficiency. ( 702234 )
1978
49
Renal transplantation in a patient with lipoatrophic diabetes. A case report. ( 360516 )
1978
50
Effects of insulin and oral antidiabetic agents on the plasma triglyceride levels in lipoatrophic diabetes. ( 663935 )
1978

Variations for Lipodystrophy, Familial Partial, Type 2

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

71 (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 18)
# 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.1580G> C (p.Arg527Pro) single nucleotide variant Pathogenic rs57520892 GRCh37 Chromosome 1, 156106995: 156106995
3 LMNA NM_170707.3(LMNA): c.1445G> A (p.Arg482Gln) single nucleotide variant Pathogenic rs11575937 GRCh37 Chromosome 1, 156106776: 156106776
4 LMNA NM_170707.3(LMNA): c.398G> T (p.Arg133Leu) single nucleotide variant Pathogenic rs60864230 GRCh37 Chromosome 1, 156100449: 156100449
5 LMNA NM_005572.3(LMNA): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic rs57920071 GRCh37 Chromosome 1, 156106775: 156106775
6 LMNA NM_170707.3(LMNA): c.1445G> T (p.Arg482Leu) single nucleotide variant Pathogenic rs11575937 GRCh37 Chromosome 1, 156106776: 156106776
7 LMNA NM_170707.3(LMNA): c.1394G> A (p.Gly465Asp) single nucleotide variant Pathogenic rs61282106 GRCh37 Chromosome 1, 156106725: 156106725
8 LMNA NM_170707.3(LMNA): c.1745G> A (p.Arg582His) single nucleotide variant Pathogenic rs57830985 GRCh37 Chromosome 1, 156108325: 156108325
9 LMNA NM_170707.3(LMNA): c.688G> A (p.Asp230Asn) single nucleotide variant Pathogenic rs61214927 GRCh37 Chromosome 1, 156104644: 156104644
10 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh37 Chromosome 1, 156105827: 156105827
11 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh37 Chromosome 1, 156105758: 156105758
12 LMNA NM_170707.3(LMNA): c.1045C> T (p.Arg349Trp) single nucleotide variant Pathogenic rs267607555 GRCh37 Chromosome 1, 156105800: 156105800
13 LMNA NM_005572.3(LMNA): c.1458G> T (p.Lys486Asn) single nucleotide variant Pathogenic rs59981161 GRCh37 Chromosome 1, 156106789: 156106789
14 LMNA NM_170707.3(LMNA): c.1488+5G> C single nucleotide variant Pathogenic rs267607543 GRCh37 Chromosome 1, 156106824: 156106824
15 LMNA NM_170707.3(LMNA): c.1583C> G (p.Thr528Arg) single nucleotide variant Pathogenic/Likely pathogenic rs57629361 GRCh37 Chromosome 1, 156106998: 156106998
16 LMNA NM_170707.3(LMNA): c.184C> G (p.Arg62Gly) single nucleotide variant Pathogenic rs56793579 GRCh37 Chromosome 1, 156084893: 156084893
17 LMNA NM_170707.3(LMNA): c.1961dupG (p.Thr655Asnfs) duplication Pathogenic rs863225024 GRCh37 Chromosome 1, 156108541: 156108541
18 LMNA NM_170707.3(LMNA): c.29C> T (p.Thr10Ile) single nucleotide variant Pathogenic/Likely pathogenic rs57077886 GRCh37 Chromosome 1, 156084738: 156084738

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

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 INS IRS4 PDE3B
2
Show member pathways
12.22 INS IRS4 PDE3B
3
Show member pathways
11.88 INS LEP PDE3B
4
Show member pathways
11.75 INS IRS4 LEP
5
Show member pathways
11.55 GFPT2 INS
6 11.46 INS LEP
7
Show member pathways
11.44 INS IRS4
8 11.27 IRS4 LEP
9 11.08 LEP PDE3B
10 11.04 INS IRS4 LEP LMNA
11 11.02 INS LEP
12 10.86 INS IRS4 PDE3B

GO Terms for Lipodystrophy, Familial Partial, Type 2

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

# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 9.46 INS LEP
2 positive regulation of MAPK cascade GO:0043410 9.43 INS LEP
3 insulin receptor signaling pathway GO:0008286 9.4 INS IRS4
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.37 INS LEP
5 glucose metabolic process GO:0006006 9.32 INS LEP
6 negative regulation of lipid catabolic process GO:0050995 9.26 INS PDE3B
7 energy reserve metabolic process GO:0006112 9.16 GFPT2 LEP
8 positive regulation of insulin receptor signaling pathway GO:0046628 8.96 INS LEP
9 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 hormone activity GO:0005179 8.96 INS LEP
2 insulin receptor binding GO:0005158 8.62 INS IRS4

Sources for Lipodystrophy, Familial Partial, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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