MCID: LPD015
MIFTS: 59

Lipodystrophy, Familial Partial, Type 2

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

Aliases & Classifications for Lipodystrophy, Familial Partial, Type 2

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

Name: Lipodystrophy, Familial Partial, Type 2 57 53 40
Lipoatrophic Diabetes 57 12 53 75 15
Fpld2 57 53 59 75
Fpl2 57 53 75
Lipodystrophy, Familial, of Limbs and Lower Trunk 57 53
Lipodystrophy, Familial Partial, Dunnigan Type 57 53
Familial Partial Lipodystrophy, Dunnigan Type 53 59
Familial Partial Lipodystrophy Type 2 53 59
Lipodystrophy, Familial Partial, 2 75 13
Familial Partial Lipodystrophy 2 29 6
Lipodystrophy, Reverse Partial 57 53
Lipoatrophic Diabetes Mellitus 12 73
Dunnigan Syndrome 53 59
Generalized Lipoatrophy Associated with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy and Leukomelanodermic Papules 75
Lipodystrophy Familial of Limbs and Lower Trunk 75
Familial Partial Lipodystrophy Dunnigan Type 75
Familial Partial Lipodystrophy, Type 2 73
Familial Generalized Lipodystrophy 73
Diabetes Mellitus, Lipoatrophic 44
Lipodystrophy Reverse Partial 75

Characteristics:

Orphanet epidemiological data:

59
familial partial lipodystrophy, dunnigan type
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult; Age of death: adult,elderly;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset of clinical features around puberty


HPO:

32
lipodystrophy, familial partial, type 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Lipodystrophy, Familial Partial, Type 2

OMIM : 57 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 nonalcoholic steatohepatitis, 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 Metabolism of proteins and Glucose / Energy Metabolism. The drugs insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and skin, and related phenotypes are diabetes mellitus and splenomegaly

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 Familial partial lipodystrophy type 2 (FPLD2) is a rare, genetic disorder that affects the amount and distribution of fat in the body. It causes a loss of fatty tissue from the torso, buttocks, and limbs, while causing a buildup of fatty tissue in the face, neck, shoulders, and abdomen. Symptoms typically develop around puberty. FPLD2 can be associated with a number of metabolic complications, including insulin resistance, dyslipidemia, diabetes, and liver steatosis. These complications lead to an increased risk for developing heart disease. FPLD2 is caused by mutations in the LMNA gene and inheritance is autosomal dominant. Treatment aims to correct and manage the metabolic effects and involves medications, monitoring the diet, and exercise.

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

Related Diseases for Lipodystrophy, Familial Partial, Type 2

Diseases in the 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
Familial Partial Lipodystrophy Due to Akt2 Mutations Lipe-Related Familial Partial Lipodystrophy

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 congenital generalized lipodystrophy 32.0 INS LEP LMNA
2 nonalcoholic steatohepatitis 30.1 INS LEP
3 familial partial lipodystrophy 29.6 INS LEP LMNA
4 diabetes mellitus, noninsulin-dependent 29.1 GFPT1 INS LEP LMNA
5 diabetes mellitus 28.5 INS IRS4 LEP
6 aredyld 12.1
7 lipodystrophy, congenital generalized, type 2 11.4
8 lipodystrophy, familial partial, type 1 11.3
9 lipodystrophy, congenital generalized, type 1 11.2
10 acquired generalized lipodystrophy 11.2
11 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.4 INS LMNA
12 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.2 INS LEP
13 abdominal obesity-metabolic syndrome 1 10.2 INS LEP
14 fetal macrosomia 10.2 INS LEP
15 prediabetes syndrome 10.2 INS LEP
16 apnea, obstructive sleep 10.2 INS LEP
17 endocrine pancreas disease 10.2 INS LEP
18 alstrom syndrome 10.2 INS LEP
19 pancreas disease 10.2 INS LEP
20 anovulation 10.2 INS LEP
21 3-hydroxyacyl-coa dehydrogenase deficiency 10.1 INS LEP
22 inherited metabolic disorder 10.1 INS LEP
23 sleep apnea 10.1 INS LEP
24 uremia 10.1 INS LEP
25 overnutrition 10.1 INS LEP
26 lipid metabolism disorder 10.1 INS LEP
27 glucose metabolism disease 10.1 INS LEP
28 arteries, anomalies of 10.0 INS LEP
29 morbid obesity 10.0 INS LEP
30 acquired metabolic disease 10.0 INS LEP
31 hyperglycemia 10.0
32 hyperthyroidism 10.0 INS LEP
33 partial lipodystrophy 9.9
34 gestational diabetes 9.9 INS LEP
35 insulin-like growth factor i 9.9 INS LEP
36 childhood type dermatomyositis 9.8
37 ectodermal dysplasia 9.8
38 hepatitis 9.8
39 liver disease 9.8
40 dermatomyositis 9.8
41 rickets 9.8
42 ovarian disease 9.8
43 hypothalamic disease 9.8
44 retinitis 9.8
45 pancreatitis 9.8
46 retinal degeneration 9.8
47 neuropathy 9.8
48 hereditary hypophosphatemic rickets 9.8
49 angular cheilitis 9.8 GFPT1 GFPT2
50 hyperinsulinism 9.8 INS LEP

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:

57
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

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

59 32 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000819
2 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
3 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
4 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
5 cranial nerve paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006824
6 abnormality of the nail 59 32 frequent (33%) Frequent (79-30%) HP:0001597
7 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
8 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
9 hypertriglyceridemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002155
10 acanthosis nigricans 59 32 occasional (7.5%) Occasional (29-5%) HP:0000956
11 thin skin 59 32 frequent (33%) Frequent (79-30%) HP:0000963
12 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
13 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
14 secondary amenorrhea 59 32 frequent (33%) Frequent (79-30%) HP:0000869
15 hepatic steatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001397
16 pancreatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001733
17 myalgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003326
18 glomerulopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100820
19 polycystic ovaries 59 32 occasional (7.5%) Occasional (29-5%) HP:0000147
20 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
21 cellulitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100658
22 skeletal muscle hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003712
23 advanced eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0006288
24 atherosclerosis 59 32 Frequent (79-30%) HP:0002621
25 dysmenorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0100607
26 insulin resistance 59 32 hallmark (90%) Very frequent (99-80%) HP:0000855
27 xanthomatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000991
28 lipodystrophy 59 32 Very frequent (99-80%) HP:0009125
29 abnormality of complement system 59 32 occasional (7.5%) Occasional (29-5%) HP:0005339
30 loss of subcutaneous adipose tissue in limbs 59 32 frequent (33%) Frequent (79-30%) HP:0003635
31 abnormality of skeletal muscle fiber size 59 32 occasional (7.5%) Occasional (29-5%) HP:0012084
32 eclampsia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100601
33 hypertension 32 HP:0000822
34 hyperinsulinemia 32 HP:0000842
35 aplasia/hypoplasia of the skin 59 Very frequent (99-80%)
36 insulin-resistant diabetes mellitus 32 HP:0000831
37 prominent superficial veins 32 HP:0001015
38 hirsutism 32 HP:0001007
39 hyperglycemia 32 HP:0003074
40 coronary artery disease 59 Occasional (29-5%)
41 increased adipose tissue around the neck 32 HP:0000468
42 increased intraabdominal fat 32 HP:0008993
43 enlarged peripheral nerve 32 HP:0012645
44 reduced subcutaneous adipose tissue 32 HP:0003758
45 increased facial adipose tissue 32 HP:0000287
46 acute pancreatitis 32 frequent (33%) HP:0001735
47 labial pseudohypertrophy 32 HP:0008739
48 increased intramuscular fat 32 HP:0008985
49 coronary artery atherosclerosis 32 occasional (7.5%) HP:0001677
50 decreased hdl cholesterol concentration 32 HP:0003233

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


myalgia

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.46 GFPT2 INS LEP LMNA
2 skeleton MP:0005390 9.35 GFPT1 GFPT2 INS LEP LMNA
3 vision/eye MP:0005391 8.92 GFPT2 INS LEP LMNA

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 Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With With Familial Partial Lipodystrophy (FPL) Recruiting NCT03514420 Phase 2 AKCEA-ANGPTL3-LRX
6 Phase 2 Study of Obeticholic Acid for Lipodystrophy Patients Recruiting NCT02430077 Phase 2 Obeticholic Acid;Placebo
7 Expanded Access Metreleptin Study Active, not recruiting NCT02404896 Phase 2 Metreleptin
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 29 LMNA

Anatomical Context for Lipodystrophy, Familial Partial, Type 2

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

41
Heart, Liver, Skin, 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 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
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:

75 (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 36)
# 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_170707.3(LMNA): c.1394G> A (p.Gly465Asp) single nucleotide variant Pathogenic rs61282106 GRCh37 Chromosome 1, 156106725: 156106725
14 LMNA NM_170707.3(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.688G> A (p.Asp230Asn) single nucleotide variant Pathogenic rs61214927 GRCh37 Chromosome 1, 156104644: 156104644
18 LMNA NM_170707.3(LMNA): c.688G> A (p.Asp230Asn) single nucleotide variant Pathogenic rs61214927 GRCh38 Chromosome 1, 156134853: 156134853
19 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh37 Chromosome 1, 156105827: 156105827
20 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh38 Chromosome 1, 156136036: 156136036
21 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh37 Chromosome 1, 156105758: 156105758
22 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh38 Chromosome 1, 156135967: 156135967
23 LMNA NM_170707.3(LMNA): c.1045C> T (p.Arg349Trp) single nucleotide variant Pathogenic rs267607555 GRCh37 Chromosome 1, 156105800: 156105800
24 LMNA NM_170707.3(LMNA): c.1045C> T (p.Arg349Trp) single nucleotide variant Pathogenic rs267607555 GRCh38 Chromosome 1, 156136009: 156136009
25 LMNA NM_005572.3(LMNA): c.1458G> T (p.Lys486Asn) single nucleotide variant Pathogenic rs59981161 GRCh37 Chromosome 1, 156106789: 156106789
26 LMNA NM_005572.3(LMNA): c.1458G> T (p.Lys486Asn) single nucleotide variant Pathogenic rs59981161 GRCh38 Chromosome 1, 156136998: 156136998
27 LMNA NM_170707.3(LMNA): c.1488+5G> C single nucleotide variant Pathogenic rs267607543 GRCh37 Chromosome 1, 156106824: 156106824
28 LMNA NM_170707.3(LMNA): c.1488+5G> C single nucleotide variant Pathogenic rs267607543 GRCh38 Chromosome 1, 156137033: 156137033
29 LMNA NM_170707.3(LMNA): c.1583C> G (p.Thr528Arg) single nucleotide variant Pathogenic/Likely pathogenic rs57629361 GRCh37 Chromosome 1, 156106998: 156106998
30 LMNA NM_170707.3(LMNA): c.1583C> G (p.Thr528Arg) single nucleotide variant Pathogenic/Likely pathogenic rs57629361 GRCh38 Chromosome 1, 156137207: 156137207
31 LMNA NM_170707.3(LMNA): c.184C> G (p.Arg62Gly) single nucleotide variant Pathogenic rs56793579 GRCh37 Chromosome 1, 156084893: 156084893
32 LMNA NM_170707.3(LMNA): c.184C> G (p.Arg62Gly) single nucleotide variant Pathogenic rs56793579 GRCh38 Chromosome 1, 156115102: 156115102
33 LMNA NM_170707.3(LMNA): c.1961dupG (p.Thr655Asnfs) duplication Pathogenic rs863225024 GRCh37 Chromosome 1, 156108541: 156108541
34 LMNA NM_170707.3(LMNA): c.1961dupG (p.Thr655Asnfs) duplication Pathogenic rs863225024 GRCh38 Chromosome 1, 156138750: 156138750
35 LMNA NM_170707.3(LMNA): c.29C> T (p.Thr10Ile) single nucleotide variant Pathogenic/Likely pathogenic rs57077886 GRCh37 Chromosome 1, 156084738: 156084738
36 LMNA NM_170707.3(LMNA): c.29C> T (p.Thr10Ile) single nucleotide variant Pathogenic/Likely pathogenic rs57077886 GRCh38 Chromosome 1, 156114947: 156114947

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

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 9.57 INS LEP
2 insulin receptor signaling pathway GO:0008286 9.56 INS IRS4
3 response to insulin GO:0032868 9.55 INS LEP
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.54 INS LEP
5 glucose metabolic process GO:0006006 9.52 INS LEP
6 response to nutrient levels GO:0031667 9.51 INS LEP
7 IRE1-mediated unfolded protein response GO:0036498 9.49 GFPT1 LMNA
8 protein N-linked glycosylation GO:0006487 9.48 GFPT1 GFPT2
9 glutamine metabolic process GO:0006541 9.46 GFPT1 GFPT2
10 positive regulation of insulin receptor signaling pathway GO:0046628 9.43 INS LEP
11 UDP-N-acetylglucosamine biosynthetic process GO:0006048 9.4 GFPT1 GFPT2
12 fructose 6-phosphate metabolic process GO:0006002 9.37 GFPT1 GFPT2
13 UDP-N-acetylglucosamine metabolic process GO:0006047 9.32 GFPT1 GFPT2
14 regulation of protein localization to nucleus GO:1900180 9.26 LEP LMNA
15 carbohydrate derivative metabolic process GO:1901135 9.16 GFPT1 GFPT2
16 carbohydrate derivative biosynthetic process GO:1901137 8.96 GFPT1 GFPT2
17 energy reserve metabolic process GO:0006112 8.8 GFPT1 GFPT2 LEP

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 9.32 INS LEP
2 transaminase activity GO:0008483 9.26 GFPT1 GFPT2
3 insulin receptor binding GO:0005158 9.16 INS IRS4
4 carbohydrate derivative binding GO:0097367 8.96 GFPT1 GFPT2
5 glutamine-fructose-6-phosphate transaminase (isomerizing) activity GO:0004360 8.62 GFPT1 GFPT2

Sources for Lipodystrophy, Familial Partial, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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