FPLD2
MCID: LPD037
MIFTS: 52

Lipodystrophy, Familial Partial, 2 (FPLD2) malady

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

Aliases & Classifications for Lipodystrophy, Familial Partial, 2

Aliases & Descriptions for Lipodystrophy, Familial Partial, 2:

Name: Lipodystrophy, Familial Partial, 2 54 66 13
Familial Partial Lipodystrophy Type 2 50 24 56 29
Lipoatrophic Diabetes 12 50 66 14
Fpld2 50 24 56 66
Familial Partial Lipodystrophy, Dunnigan Type 50 24 56
Lipodystrophy, Familial Partial, Type 2 54 50
Dunnigan Syndrome 50 56
Fpl2 50 66
Generalized Lipoatrophy Associated with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy and Leukomelanodermic Papules 66
Lipodystrophy, Familial, of Limbs and Lower Trunk 50
Lipodystrophy Familial of Limbs and Lower Trunk 66
Lipodystrophy, Familial Partial, Dunnigan Type 50
Familial Partial Lipodystrophy Dunnigan Type 66
Familial Partial Lipodystrophy, Type 2 69
Familial Generalized Lipodystrophy 69
Diabetes Mellitus, Lipoatrophic 42
Lipodystrophy, Reverse Partial 50
Lipoatrophic Diabetes Mellitus 69
Lipodystrophy Reverse Partial 66

Characteristics:

Orphanet epidemiological data:

56
familial partial lipodystrophy, dunnigan type
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult; Age of death: adult,elderly;

HPO:

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


Classifications:



External Ids:

OMIM 54 151660
Disease Ontology 12 DOID:11712
NCIt 47 C34537
Orphanet 56 ORPHA2348
UMLS via Orphanet 70 C1720860
ICD10 via Orphanet 34 E88.1
MedGen 40 C1720860
UMLS 69 C0011859

Summaries for Lipodystrophy, Familial Partial, 2

OMIM : 54 Familial partial lipodystrophy is a metabolic disorder characterized by abnormal subcutaneous adipose tissue... (151660) more...

MalaCards based summary : Lipodystrophy, Familial Partial, 2, also known as familial partial lipodystrophy type 2, is related to aredyld and familial partial lipodystrophy, and has symptoms including myalgia, diabetes mellitus and splenomegaly. An important gene associated with Lipodystrophy, Familial Partial, 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 chenodeoxycholic acid and Gastrointestinal Agents 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 : 50 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 : 66 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.

Wikipedia : 71 Dunnigan-type familial partial lipodystrophy, abbreviated as (FPLD), is a rare monogenic form of insulin... more...

Related Diseases for Lipodystrophy, Familial Partial, 2

Diseases in the Familial Partial Lipodystrophy family:

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

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

(show all 44)
id Related Disease Score Top Affiliating Genes
1 aredyld 11.8
2 familial partial lipodystrophy 11.4
3 lipodystrophy, congenital generalized, type 2 11.3
4 lipodystrophy, familial partial, type 1 11.2
5 lipodystrophy, congenital generalized, type 1 11.1
6 acquired generalized lipodystrophy 11.1
7 lipodystrophy 10.1
8 tooth agenesis 10.1 LEP LMNA
9 autosomal recessive congenital ichthyosis 10.1 INS LEP
10 fetal warfarin syndrome 10.1 INS LEP
11 hyperlipoproteinemia type iv 10.1 INS LEP
12 not otherwise specified 3-mga-uria type 10.1 INS LEP
13 epidural spinal canal meningioma 10.1 INS LEP
14 perry syndrome 10.1 INS LEP
15 neurogenic arthropathy 10.1 INS LEP
16 chondroma 10.1 INS LEP
17 cataract 20, multiple types 10.1 INS LEP
18 limb ischemia 10.1 INS LEP
19 diabetic encephalopathy 10.1 INS LEP
20 mucopolysaccharidosis iii 10.1 INS LEP
21 lipomatosis 10.0 INS LEP
22 glomangiomyoma 10.0 INS LEP
23 antidepressant type abuse 10.0 INS LEP
24 adrenal adenoma 10.0 INS LEP
25 exostosis 10.0 INS LEP
26 peroneal neuropathy 10.0 INS LEP
27 hyperphosphatemia 10.0 INS LEP LMNA
28 leg dermatosis 10.0 INS LEP LMNA
29 thymus clear cell carcinoma 10.0 INS LEP LMNA
30 chronic myocardial ischemia 9.9 INS LEP
31 hyperglycemia 9.9
32 congenital generalized lipodystrophy 9.9
33 edict syndrome 9.9 INS LEP
34 rickets 9.7
35 retinitis 9.7
36 pancreatitis 9.7
37 retinal degeneration 9.7
38 neuropathy 9.7
39 hypertriglyceridemia 9.7
40 nonalcoholic steatohepatitis 9.7
41 ectodermal dysplasia 9.7
42 hepatitis 9.7
43 liver disease 9.7
44 emery-dreifuss muscular dystrophy 3, ar 9.2 GFPT2 INS IRS4 LEP LMNA PDE3B

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



Diseases related to Lipodystrophy, Familial Partial, 2

Symptoms & Phenotypes for Lipodystrophy, Familial Partial, 2

Symptoms by clinical synopsis from OMIM:

151660

Clinical features from OMIM:

151660

Human phenotypes related to Lipodystrophy, Familial Partial, 2:

56 32 (show top 50) (show all 51)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myalgia 56 32 Occasional (29-5%) HP:0003326
2 diabetes mellitus 56 32 Very frequent (99-80%) HP:0000819
3 splenomegaly 56 32 Occasional (29-5%) HP:0001744
4 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
5 myopathy 56 32 Occasional (29-5%) HP:0003198
6 cranial nerve paralysis 56 32 Occasional (29-5%) HP:0006824
7 abnormality of the nail 56 32 Frequent (79-30%) HP:0001597
8 lipoatrophy 56 32 Very frequent (99-80%) HP:0100578
9 hypertrophic cardiomyopathy 56 32 Occasional (29-5%) HP:0001639
10 hypertriglyceridemia 56 32 Very frequent (99-80%) HP:0002155
11 acanthosis nigricans 56 32 Occasional (29-5%) HP:0000956
12 thin skin 56 32 Frequent (79-30%) HP:0000963
13 congestive heart failure 56 32 Occasional (29-5%) HP:0001635
14 generalized hirsutism 56 32 Occasional (29-5%) HP:0002230
15 secondary amenorrhea 56 32 Frequent (79-30%) HP:0000869
16 hepatic steatosis 56 32 Occasional (29-5%) HP:0001397
17 pancreatitis 56 32 Occasional (29-5%) HP:0001733
18 glomerulopathy 56 32 Occasional (29-5%) HP:0100820
19 polycystic ovaries 56 32 Occasional (29-5%) HP:0000147
20 round face 56 32 Very frequent (99-80%) HP:0000311
21 cellulitis 56 32 Occasional (29-5%) HP:0100658
22 skeletal muscle hypertrophy 56 32 Very frequent (99-80%) HP:0003712
23 advanced eruption of teeth 56 32 Frequent (79-30%) HP:0006288
24 atherosclerosis 56 32 Frequent (79-30%) HP:0002621
25 dysmenorrhea 56 32 Occasional (29-5%) HP:0100607
26 xanthomatosis 56 32 Very frequent (99-80%) HP:0000991
27 insulin resistance 56 32 Very frequent (99-80%) HP:0000855
28 lipodystrophy 56 32 Very frequent (99-80%) HP:0009125
29 abnormality of complement system 56 32 Occasional (29-5%) HP:0005339
30 coronary artery disease 56 32 Occasional (29-5%) HP:0001677
31 loss of subcutaneous adipose tissue in limbs 56 32 Frequent (79-30%) HP:0003635
32 abnormality of skeletal muscle fiber size 56 32 Occasional (29-5%) HP:0012084
33 eclampsia 56 32 Occasional (29-5%) HP:0100601
34 hypertension 32 HP:0000822
35 hyperinsulinemia 32 HP:0000842
36 aplasia/hypoplasia of the skin 56 Very frequent (99-80%)
37 insulin-resistant diabetes mellitus 32 HP:0000831
38 prominent superficial veins 32 HP:0001015
39 hirsutism 32 HP:0001007
40 hyperglycemia 32 HP:0003074
41 reduced subcutaneous adipose tissue 32 HP:0003758
42 hypoalphalipoproteinemia 32 HP:0003233
43 acute pancreatitis 32 HP:0001735
44 increased intraabdominal fat 32 HP:0008993
45 increased adipose tissue around the neck 32 HP:0000468
46 increased facial adipose tissue 32 HP:0000287
47 labial pseudohypertrophy 32 HP:0008739
48 adipose tissue loss 32 HP:0008887
49 increased intramuscular fat 32 HP:0008985
50 loss of truncal subcutaneous adipose tissue 32 HP:0009002

UMLS symptoms related to Lipodystrophy, Familial Partial, 2:


myalgia

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.55 GFPT2 INS LEP LMNA PDE3B
2 pigmentation MP:0001186 9.13 LEP LMNA PDE3B
3 vision/eye MP:0005391 8.92 GFPT2 INS LEP LMNA

Drugs & Therapeutics for Lipodystrophy, Familial Partial, 2

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
2 Gastrointestinal Agents Phase 2
3 Laxatives Phase 2
4 Cathartics Phase 2
5
Menthol Approved 2216-51-5 16666

Interventional clinical trials:


id Name Status NCT ID Phase
1 The BROADEN Study: A Study of Volanesorsen (Formerly ISIS-APOCIIIRx) in Patients With Familial Partial Lipodystrophy Recruiting NCT02527343 Phase 2, Phase 3
2 Phase 2 Study of Obeticholic Acid for Lipodystrophy Patients Recruiting NCT02430077 Phase 2
3 CLINICAL PROTOCOL to Investigate the Long-term Safety and Efficacy of Metreleptin in Various Forms of Partial Lipodystrophy Recruiting NCT02654977 Phase 2
4 Expanded Access Metreleptin Study Active, not recruiting NCT02404896 Phase 2
5 Identification of a New Gene Involved in Hereditary Lipodystrophy Completed NCT02056912
6 Familial Partial Lipodystrophy Study Recruiting NCT02858830

Search NIH Clinical Center for Lipodystrophy, Familial Partial, 2

Cochrane evidence based reviews: diabetes mellitus, lipoatrophic

Genetic Tests for Lipodystrophy, Familial Partial, 2

Genetic tests related to Lipodystrophy, Familial Partial, 2:

id Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy 2 29
2 Familial Partial Lipodystrophy Type 2 24 LMNA

Anatomical Context for Lipodystrophy, Familial Partial, 2

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

39
Liver, Skin, Skeletal Muscle, Heart, Ovary

Publications for Lipodystrophy, Familial Partial, 2

Variations for Lipodystrophy, Familial Partial, 2

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

66 (show all 16)
id 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, 2:

6 (show all 13)
id 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.1458G> T (p.Lys486Asn) single nucleotide variant Pathogenic rs59981161 GRCh37 Chromosome 1, 156106789: 156106789
12 LMNA NM_170707.3(LMNA): c.1488+5G> C single nucleotide variant Pathogenic rs267607543 GRCh37 Chromosome 1, 156106824: 156106824
13 LMNA NM_170707.3(LMNA): c.1961dupG (p.Thr655Asnfs) duplication Pathogenic rs863225024 GRCh37 Chromosome 1, 156108541: 156108541

Expression for Lipodystrophy, Familial Partial, 2

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

Pathways for Lipodystrophy, Familial Partial, 2

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

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 INS IRS4 PDE3B
2
Show member pathways
12.42 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 11.44 INS LEP
7
Show member pathways
11.42 INS IRS4
8 11.24 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, 2

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

id Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 9.48 INS LEP
2 positive regulation of MAPK cascade GO:0043410 9.46 INS LEP
3 positive regulation of protein kinase B signaling GO:0051897 9.43 INS LEP
4 insulin receptor signaling pathway GO:0008286 9.4 INS IRS4
5 glucose metabolic process GO:0006006 9.37 INS LEP
6 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.32 INS LEP
7 negative regulation of lipid catabolic process GO:0050995 9.26 INS PDE3B
8 energy reserve metabolic process GO:0006112 9.16 GFPT2 LEP
9 positive regulation of insulin receptor signaling pathway GO:0046628 8.96 INS LEP
10 regulation of protein localization to nucleus GO:1900180 8.62 LEP LMNA

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

id 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, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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