FPLD2
MCID: LPD015
MIFTS: 56

Lipodystrophy, Familial Partial, Type 2 (FPLD2)

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

NIH Rare Diseases : 53 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 fpld2, is related to congenital generalized lipodystrophy and lipodystrophy, congenital generalized, type 2, 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 AMP-activated Protein Kinase (AMPK) Signaling. Affiliated tissues include skin, heart and liver, and related phenotypes are diabetes mellitus and splenomegaly

Disease Ontology : 12 A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has material basis in mutation in the LMNA gene on chromosome 1q21.

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)

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.

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 top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 congenital generalized lipodystrophy 32.5 AGPAT2 LEP LMNA
2 lipodystrophy, congenital generalized, type 2 32.4 AGPAT2 LMNA
3 lipodystrophy, familial partial, type 1 32.1 INS LEP LMNA
4 lipodystrophy, congenital generalized, type 1 31.8 AGPAT2 INS LEP LMNA
5 acquired generalized lipodystrophy 31.8 AGPAT2 INS LEP LMNA
6 nonalcoholic steatohepatitis 30.1 INS LEP
7 sleep apnea 30.1 INS LEP
8 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.0 AGPAT2 INS LMNA
9 familial partial lipodystrophy 30.0 AGPAT2 INS LEP LMNA
10 aredyld 12.2
11 diabetes mellitus 10.5
12 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.1 INS LEP
13 abdominal obesity-metabolic syndrome 1 10.1 INS LEP
14 hyperglycemia 10.1
15 fatty liver disease, nonalcoholic 1 10.1 INS LEP
16 fetal macrosomia 10.1 INS LEP
17 lipodystrophy, familial partial, type 3 10.1 AGPAT2 LMNA
18 prediabetes syndrome 10.1 INS LEP
19 apnea, obstructive sleep 10.1 INS LEP
20 endocrine pancreas disease 10.1 INS LEP
21 pancreas disease 10.1 INS LEP
22 lipodystrophy, congenital generalized, type 4 10.1 AGPAT2 LMNA
23 alstrom syndrome 10.1 INS LEP
24 sleep disorder 10.1 INS LEP
25 anovulation 10.1 INS LEP
26 pigmentation disease 10.1 AGPAT2 INS
27 3-hydroxyacyl-coa dehydrogenase deficiency 10.1 INS LEP
28 diabetic neuropathy 10.1 INS LEP
29 berardinelli-seip congenital lipodystrophy 10.1 AGPAT2 LEP
30 inherited metabolic disorder 10.1 INS LEP
31 uremia 10.1 INS LEP
32 overnutrition 10.1 INS LEP
33 arteries, anomalies of 10.1 INS LEP
34 autosomal genetic disease 10.1 INS LMNA
35 lipid metabolism disorder 10.1 INS LEP
36 glucose metabolism disease 10.0 INS LEP
37 morbid obesity 10.0 INS LEP
38 polycystic ovary syndrome 1 10.0
39 polycystic ovary syndrome 10.0
40 acquired metabolic disease 10.0 INS LEP
41 hyperthyroidism 10.0 INS LEP
42 vascular disease 10.0
43 acanthosis nigricans 10.0 INS LEP LMNA
44 childhood type dermatomyositis 10.0
45 ectodermal dysplasia 10.0
46 liver disease 10.0
47 dermatomyositis 10.0
48 rickets 10.0
49 ovarian disease 10.0
50 hypothalamic disease 10.0

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 lipodystrophy 59 32 Very frequent (99-80%) HP:0009125
17 pancreatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001733
18 myalgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003326
19 glomerulopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100820
20 polycystic ovaries 59 32 occasional (7.5%) Occasional (29-5%) HP:0000147
21 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
22 cellulitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100658
23 skeletal muscle hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003712
24 advanced eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0006288
25 atherosclerosis 59 32 Frequent (79-30%) HP:0002621
26 dysmenorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0100607
27 insulin resistance 59 32 hallmark (90%) Very frequent (99-80%) HP:0000855
28 xanthomatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000991
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 9.77 AGPAT2 GFPT2 INS LEP LMNA
2 digestive/alimentary MP:0005381 9.62 AGPAT2 INS LEP LMNA
3 limbs/digits/tail MP:0005371 9.56 AGPAT2 GFPT1 LEP LMNA
4 liver/biliary system MP:0005370 9.46 AGPAT2 INS LEP LMNA
5 renal/urinary system MP:0005367 9.26 AGPAT2 INS LEP LMNA
6 skeleton MP:0005390 9.1 AGPAT2 GFPT1 GFPT2 INS LEP LMNA

Drugs & Therapeutics for Lipodystrophy, Familial Partial, Type 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With With Familial Partial Lipodystrophy (FPL) Active, not recruiting NCT03514420 Phase 2 AKCEA-ANGPTL3-LRX
2 Leptin to Treat Lipodystrophy Completed NCT00025883 Phase 2 Metreleptin

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

Publications for Lipodystrophy, Familial Partial, Type 2

Articles related to Lipodystrophy, Familial Partial, Type 2:

(show all 12)
# Title Authors Year
1
Polycystic ovary syndrome in familial partial lipodystrophy type 2 (FPLD2): basic and clinical aspects. ( 30131000 )
2018
2
Insulin secretory defect in familial partial lipodystrophy Type 2 and successful long-term treatment with a glucagon-like peptide 1 receptor agonist. ( 29044799 )
2017
3
Dipeptidyl peptidase-4 levels are increased and partially related to body fat distribution in patients with familial partial lipodystrophy type 2. ( 28450900 )
2017
4
Quantitative whole-body MRI in familial partial lipodystrophy type 2: changes in adipose tissue distribution coincide with biochemical improvement. ( 23096204 )
2012
5
Obstructive sleep apnea in familial partial lipodystrophy type 2 with atypical skin findings and vascular disease. ( 19418082 )
2009
6
A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2. ( 16636128 )
2006
7
Lipoatrophic diabetes in Irs1(-/-)/Irs3(-/-) double knockout mice. ( 12502742 )
2002
8
Nerve-growth factor and lipoatrophic diabetes. ( 802991 )
1975
9
Letter: Management of lipoatrophic diabetes. ( 1110678 )
1975
10
Letter: Management of lipoatrophic diabetes. ( 1128582 )
1975
11
Lipoatrophic diabetes. ( 5929541 )
1966
12
Two sibling cases with lipoatrophic diabetes. ( 5898664 )
1965

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 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_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.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 rs267607555 GRCh37 Chromosome 1, 156105800: 156105800
28 LMNA NM_170707.3(LMNA): c.1045C> T (p.Arg349Trp) single nucleotide variant 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_170707.3(LMNA): c.1488+5G> C single nucleotide variant Pathogenic rs267607543 GRCh37 Chromosome 1, 156106824: 156106824
32 LMNA NM_170707.3(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_170707.3(LMNA): c.184C> G (p.Arg62Gly) single nucleotide variant Pathogenic rs56793579 GRCh37 Chromosome 1, 156084893: 156084893
36 LMNA NM_170707.3(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

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 insulin receptor signaling pathway GO:0008286 9.55 INS IRS4
2 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.54 INS LEP
3 glucose metabolic process GO:0006006 9.52 INS LEP
4 IRE1-mediated unfolded protein response GO:0036498 9.51 GFPT1 LMNA
5 protein N-linked glycosylation GO:0006487 9.49 GFPT1 GFPT2
6 positive regulation of cytokine production GO:0001819 9.48 AGPAT2 LEP
7 glutamine metabolic process GO:0006541 9.46 GFPT1 GFPT2
8 positive regulation of insulin receptor signaling pathway GO:0046628 9.43 INS LEP
9 UDP-N-acetylglucosamine biosynthetic process GO:0006048 9.4 GFPT1 GFPT2
10 fructose 6-phosphate metabolic process GO:0006002 9.37 GFPT1 GFPT2
11 UDP-N-acetylglucosamine metabolic process GO:0006047 9.32 GFPT1 GFPT2
12 regulation of protein localization to nucleus GO:1900180 9.26 LEP LMNA
13 carbohydrate derivative metabolic process GO:1901135 9.16 GFPT1 GFPT2
14 carbohydrate derivative biosynthetic process GO:1901137 8.96 GFPT1 GFPT2
15 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 transaminase activity GO:0008483 9.26 GFPT1 GFPT2
2 insulin receptor binding GO:0005158 9.16 INS IRS4
3 carbohydrate derivative binding GO:0097367 8.96 GFPT1 GFPT2
4 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
45 MESH via Orphanet
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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