FPLD2
MCID: LPD015
MIFTS: 63

Lipodystrophy, Familial Partial, Type 2 (FPLD2)

Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Lipodystrophy, Familial Partial, Type 2

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

Name: Lipodystrophy, Familial Partial, Type 2 57 19 38
Lipoatrophic Diabetes 57 11 19 73 16
Fpld2 57 11 19 58 73
Familial Partial Lipodystrophy, Dunnigan Type 19 58 28 5
Familial Partial Lipodystrophy Type 2 11 19 58 14
Lipoatrophic Diabetes Mellitus 11 14 71
Fpl2 57 19 73
Lipodystrophy, Familial, of Limbs and Lower Trunk 57 19
Lipodystrophy, Familial Partial, Dunnigan Type 57 19
Familial Partial Lipodystrophy Dunnigan Type 11 73
Lipodystrophy, Reverse Partial 57 19
Dunnigan Syndrome 19 58
Generalized Lipoatrophy Associated with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy and Leukomelanodermic Papules 73
Familial Lipodystrophy of Limbs and Lower Trunk 11
Lipodystrophy Familial of Limbs and Lower Trunk 73
Dunnigan Familial Partial Lipodystrophy 75
Familial Partial Lipodystrophy, Type 2 71
Lipodystrophy, Familial Partial, 2 73
Familial Generalized Lipodystrophy 71
Diabetes Mellitus, Lipoatrophic 43
Reverse Partial Lipodystrophy 11
Lipodystrophy Reverse Partial 73

Characteristics:


Inheritance:

Lipodystrophy, Familial Partial, Type 2: Autosomal dominant 57
Familial Partial Lipodystrophy, Dunnigan Type: Autosomal dominant 58

Age Of Onset:

Familial Partial Lipodystrophy, Dunnigan Type: Adolescent,Adult,Childhood,Elderly 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset of clinical features around puberty


Classifications:

Orphanet: 58  
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Lipodystrophy, Familial Partial, Type 2

GARD: 19 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 genetic changes in the LMNA gene and inheritance is autosomal dominant.

MalaCards based summary: Lipodystrophy, Familial Partial, Type 2, also known as lipoatrophic diabetes, is related to lipodystrophy, congenital generalized, type 1 and lipodystrophy, familial partial, type 1, and has symptoms including myalgia An important gene associated with Lipodystrophy, Familial Partial, Type 2 is LMNA (Lamin A/C), and among its related pathways/superpathways are Metabolism and Signal Transduction. The drugs Empagliflozin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and heart, and related phenotypes are diabetes mellitus and hepatomegaly

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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

Disease Ontology 11 Familial partial lipodystrophy type 2: 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.

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

Wikipedia: 75 Dunnigan-type familial partial lipodystrophy, also known as FPLD Type II and abbreviated as (FPLD2), is... more...

Related Diseases for Lipodystrophy, Familial Partial, Type 2

Diseases in the Familial Partial Lipodystrophy family:

Lipodystrophy, Familial Partial, Type 2 Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Familial Partial, Type 7 Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Partial, Acquired Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Familial Partial, Type 5 Lipodystrophy, Familial Partial, Type 6
Akt2-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 188)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, congenital generalized, type 1 32.5 CAVIN1 BSCL2 AGPAT2
2 lipodystrophy, familial partial, type 1 32.1 ZMPSTE24 LMNA CIDEC CAVIN1 AGPAT2
3 lipodystrophy, congenital generalized, type 2 30.9 PPARG PLIN1 LMNA LEP INS CIDEC
4 acquired generalized lipodystrophy 30.8 ZMPSTE24 PPARG PLIN1 LMNA LEP INS
5 acanthosis nigricans 30.5 LMNA LEP INS ADIPOQ
6 apnea, obstructive sleep 30.4 LEP INS ADIPOQ
7 hyperglycemia 30.3 PPARG LEP INS ADIPOQ
8 monogenic diabetes 30.3 LMNA INS BSCL2
9 mandibuloacral dysplasia with type a lipodystrophy 30.3 ZMPSTE24 LMNA
10 sleep apnea 30.2 PPARG LEP INS ADIPOQ
11 hyperthyroidism 30.2 LEP INS ADIPOQ
12 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.1 LMNA INS BSCL2 AGPAT2 ADIPOQ
13 amenorrhea 30.1 LEP INS ADIPOQ
14 abdominal obesity-metabolic syndrome quantitative trait locus 2 30.0 PPARG LEP INS ADIPOQ
15 abdominal obesity-metabolic syndrome 1 30.0 PPARG LEP INS ADIPOQ
16 prediabetes syndrome 29.9 PPARG LEP INS ADIPOQ
17 familial hyperlipidemia 29.9 PPARG LEP INS ADIPOQ
18 non-alcoholic steatohepatitis 29.9 SREBF1 PPARG LEP INS ADIPOQ
19 polycystic ovary syndrome 29.9 PPARG LEP INS ADIPOQ
20 peripheral nervous system disease 29.8 PPARG LMNA LEP INS BSCL2
21 conn's syndrome 29.8 PPARG LEP INS ADIPOQ
22 hypertrophic cardiomyopathy 29.8 PPARG LMNA INS BSCL2 AGPAT2
23 ovarian disease 29.8 PPARG LEP INS ADIPOQ
24 liver disease 29.7 SREBF1 PPARG LEP INS ADIPOQ
25 leptin deficiency or dysfunction 29.6 SREBF1 PPARG LIPE LEP INS ADIPOQ
26 non-alcoholic fatty liver disease 29.6 SREBF1 PPARG LEP INS ADIPOQ
27 hyperinsulinism 29.5 SREBF1 PPARG LIPE LEP INS ADIPOQ
28 cardiomyopathy, dilated, 1h 29.5 ZMPSTE24 LMNB2 LMNB1 LMNA EMD
29 cardiomyopathy, dilated, 1a 29.5 ZMPSTE24 LMNB2 LMNB1 LMNA EMD
30 congenital generalized lipodystrophy 29.2 ZMPSTE24 SREBF1 PPARG PLIN1 LMNB2 LMNA
31 lipid metabolism disorder 29.1 SREBF1 PPARG LMNA LIPE LEP INS
32 type 2 diabetes mellitus 28.8 SREBF1 PPARG PLIN1 LMNA LIPE LEP
33 diabetes mellitus 28.5 SREBF1 PPARG PLIN1 LMNA LIPE LEP
34 dilated cardiomyopathy 28.5 ZMPSTE24 PPARG LMNB2 LMNB1 LMNA INS
35 body mass index quantitative trait locus 11 28.4 SREBF1 PPARG PLIN1 LMNA LIPE LEP
36 hutchinson-gilford progeria syndrome 28.4 ZMPSTE24 SREBF1 LMNB2 LMNB1 LMNA EMD
37 familial partial lipodystrophy 26.9 ZMPSTE24 SREBF1 PPARG PLIN1 LMNB2 LMNB1
38 aredyld 11.7
39 breasts and/or nipples, aplasia or hypoplasia of, 1 11.1
40 lipedema 10.3 PPARG LEP
41 restrictive dermopathy 1 10.3 ZMPSTE24 LMNA
42 restrictive dermopathy 10.3 ZMPSTE24 LMNA
43 lethal restrictive dermopathy 10.3 ZMPSTE24 LMNA
44 acroosteolysis 10.3 ZMPSTE24 LMNA
45 obesity-hypoventilation syndrome 10.3 LEP ADIPOQ
46 diencephalic astrocytoma 10.2 LEP INS
47 vascular disease 10.2
48 oto-palatal-digital syndrome 10.2
49 ulcer of lower limbs 10.2 PPARG INS
50 marasmus 10.2 LEP INS

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



Diseases related to Lipodystrophy, Familial Partial, Type 2

Symptoms & Phenotypes for Lipodystrophy, Familial Partial, Type 2

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

58 30 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000819
2 hepatomegaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002240
3 lipoatrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100578
4 hypertriglyceridemia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002155
5 round face 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000311
6 skeletal muscle hypertrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003712
7 insulin resistance 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000855
8 xanthomatosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000991
9 abnormality of the nail 58 30 Frequent (33%) Frequent (79-30%)
HP:0001597
10 secondary amenorrhea 58 30 Frequent (33%) Frequent (79-30%)
HP:0000869
11 advanced eruption of teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0006288
12 thin skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000963
13 loss of subcutaneous adipose tissue in limbs 58 30 Frequent (33%) Frequent (79-30%)
HP:0003635
14 acute pancreatitis 30 Frequent (33%) HP:0001735
15 splenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001744
16 myopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003198
17 cranial nerve paralysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006824
18 congestive heart failure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001635
19 hepatic steatosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001397
20 hypertrophic cardiomyopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001639
21 myalgia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003326
22 glomerulopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100820
23 polycystic ovaries 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000147
24 cellulitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100658
25 generalized hirsutism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002230
26 acanthosis nigricans 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000956
27 dysmenorrhea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100607
28 pancreatitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001733
29 coronary artery atherosclerosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001677
30 abnormality of complement system 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005339
31 abnormality of skeletal muscle fiber size 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012084
32 eclampsia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100601
33 lipodystrophy 58 30 Very rare (1%) Very frequent (99-80%)
HP:0009125
34 hypertension 30 Very rare (1%) HP:0000822
35 type ii diabetes mellitus 30 Very rare (1%) HP:0005978
36 decreased hdl cholesterol concentration 30 Very rare (1%) HP:0003233
37 atherosclerosis 58 30 Frequent (79-30%)
HP:0002621
38 hyperinsulinemia 30 HP:0000842
39 aplasia/hypoplasia of the skin 58 Very frequent (99-80%)
40 hypercholesterolemia 30 HP:0003124
41 hirsutism 30 HP:0001007
42 increased intraabdominal fat 30 HP:0008993
43 insulin-resistant diabetes mellitus 30 HP:0000831
44 prominent superficial veins 30 HP:0001015
45 hyperglycemia 30 HP:0003074
46 reduced subcutaneous adipose tissue 30 HP:0003758
47 increased adipose tissue around the neck 30 HP:0000468
48 increased facial adipose tissue 30 HP:0000287
49 enlarged peripheral nerve 30 HP:0012645
50 loss of truncal subcutaneous adipose tissue 30 HP:0009002

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 Face:
normal or increased facial adipose tissue
round, full face

Abdomen Pancreas:
pancreatitis, acute in some

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
increased intramuscular fat
partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue)
more
Genitourinary External Genitalia Female:
labial pseudohypertrophy
polycystic ovary disease (uncommon)

Head And Neck Neck:
normal or increased adipose tissue around the neck

Skin Nails Hair Hair:
hirsutism (uncommon)

Endocrine Features:
insulin-resistant diabetes mellitus (onset around puberty)

Clinical features from OMIM®:

151660 (Updated 08-Dec-2022)

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


myalgia

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 ADIPOQ AGPAT2 AKT2 BANF1 BSCL2 CAV1
2 no effect GR00402-S-2 10.17 ADIPOQ AGPAT2 AKT2 BSCL2 CAV1 CAVIN1

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

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.46 ADIPOQ AGPAT2 AKT2 BSCL2 CAV1 CAVIN1
2 growth/size/body region MP:0005378 10.4 ADIPOQ AGPAT2 AKT2 BSCL2 CAV1 CAVIN1
3 muscle MP:0005369 10.39 ADIPOQ AKT2 CAV1 CAVIN1 EMD INS
4 liver/biliary system MP:0005370 10.38 ADIPOQ AGPAT2 AKT2 BSCL2 CAV1 CIDEC
5 nervous system MP:0003631 10.35 ADIPOQ AKT2 BSCL2 CAV1 CIDEC INS
6 adipose tissue MP:0005375 10.34 ADIPOQ AGPAT2 AKT2 BSCL2 CAV1 CIDEC
7 cellular MP:0005384 10.31 ADIPOQ AGPAT2 AKT2 BSCL2 CAV1 CAVIN1
8 renal/urinary system MP:0005367 10.3 ADIPOQ AGPAT2 BSCL2 CAV1 CAVIN1 INS
9 endocrine/exocrine gland MP:0005379 10.22 ADIPOQ AGPAT2 AKT2 BSCL2 CAV1 INS
10 behavior/neurological MP:0005386 10.21 ADIPOQ AGPAT2 BSCL2 CAV1 CAVIN1 CIDEC
11 cardiovascular system MP:0005385 10.14 ADIPOQ BSCL2 CAV1 CAVIN1 EMD INS
12 digestive/alimentary MP:0005381 10.06 AGPAT2 BSCL2 CAV1 INS LEP LIPE
13 skeleton MP:0005390 10.03 ADIPOQ AGPAT2 AKT2 BSCL2 CAV1 INS
14 hematopoietic system MP:0005397 9.93 ADIPOQ AGPAT2 AKT2 BSCL2 CAV1 CIDEC
15 respiratory system MP:0005388 9.92 ADIPOQ AKT2 CAV1 CAVIN1 LEP LMNA
16 mortality/aging MP:0010768 9.8 ADIPOQ AGPAT2 AKT2 BSCL2 CAV1 CAVIN1
17 integument MP:0010771 9.5 ADIPOQ AGPAT2 AKT2 BSCL2 CAV1 CIDEC

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 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Empagliflozin Approved Phase 3 864070-44-0 73151030 11949646
2 Insulin, Globin Zinc Phase 3
3
Insulin Phase 3
4 Sodium-Glucose Transporter 2 Inhibitors Phase 3
5 Hypoglycemic Agents Phase 3
6
Hydrocortisone succinate Approved 2203-97-6 3643
7
Hydrocortisone acetate Approved, Vet_approved 50-03-3
8
Hydrocortisone Approved, Vet_approved 50-23-7 3640 5754
9 Hydrocortisone 17-butyrate 21-propionate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multicenter, Open-label, Single-arm, Extension Study With Regard to the Safety and Efficacy of Empagliflozin in Patients With Refractory Diabetes Mellitus With Insulin Resistance (EMPIRE-02) Active, not recruiting NCT04221152 Phase 3 Empagliflozin Tablets
2 A Multicenter, Open-label, Single-arm Study With Regard to the Efficacy and Safety of Empagliflozin in Patients With Refractory Diabetes Mellitus With Insulin Resistance Active, not recruiting NCT04018365 Phase 3 Empagliflozin Tablets
3 Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2 Recruiting NCT04845165
4 Exploratory Study of the Relationships Between the Biomarkers of Inflammation, Lipidome and Insulin Resistance and Disorders of Glycemic Regulation in a Cohort of Insulin-resistant Subjects Due to Excess Weight or Dunnigan's Lipodystrophy Recruiting NCT05424913

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, Dunnigan Type 28 LMNA

Anatomical Context for Lipodystrophy, Familial Partial, Type 2

Organs/tissues related to Lipodystrophy, Familial Partial, Type 2:

MalaCards : Skin, Liver, Heart, Skeletal Muscle, Ovary, Adipocyte, Bone
ODiseA: Skeletal Muscle, Adipose-Subcutaneous, Adipose, Adipose-Visceral, Heart, Skin

Publications for Lipodystrophy, Familial Partial, Type 2

Articles related to Lipodystrophy, Familial Partial, Type 2:

(show top 50) (show all 302)
# Title Authors PMID Year
1
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660). 62 57 5
17250669 2007
2
LMNA mutations in atypical Werner's syndrome. 57 5
14615128 2003
3
A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy. 57 5
12629077 2003
4
Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene. 57 5
11792811 2001
5
Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene. 57 5
11344241 2001
6
Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene. 57 5
11231979 2001
7
Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. 57 5
10739751 2000
8
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 57 5
10655060 2000
9
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. 57 5
10587585 2000
10
The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. 62 5
25524705 2015
11
Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy. 62 57
18805829 2009
12
A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2. 62 5
16636128 2006
13
Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). 62 57
10843151 2000
14
Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). 62 57
9920078 1999
15
Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome). 62 57
3519971 1986
16
Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state. 62 57
3712389 1986
17
Familial lipoatrophic diabetes with dominant transmission. A new syndrome. 62 57
4362786 1974
18
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. 5
23313286 2013
19
Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations. 5
23243001 2013
20
A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A. 5
21346069 2011
21
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. 5
19084400 2009
22
Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy. 57
18364375 2008
23
New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome. 5
17711925 2007
24
Muscle and nerve pathology in Dunnigan familial partial lipodystrophy. 57
17325275 2007
25
Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy. 5
16415042 2006
26
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. 5
16278265 2006
27
Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation. 5
16174718 2005
28
Acquired and inherited lipodystrophies. 57
15028826 2004
29
Drawing the line in progeria syndromes. 5
12927424 2003
30
LMNA mutations in atypical Werner's syndrome. 5
12927431 2003
31
Lamin a truncation in Hutchinson-Gilford progeria. 5
12702809 2003
32
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. 5
12628721 2003
33
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. 5
12196663 2002
34
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. 5
11503164 2001
35
Premature atherosclerosis associated with monogenic insulin resistance. 57
11342468 2001
36
Genetic variation in LMNA modulates plasma leptin and indices of obesity in aboriginal Canadians. 5
11015599 2000
37
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. 5
10580070 1999
38
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. 5
10080180 1999
39
Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22. 57
9934982 1999
40
A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q. 57
9683602 1998
41
Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22. 57
9500556 1998
42
Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy. 57
9093586 1997
43
Partial lipodystrophy syndromes--a further male case. 57
2282720 1990
44
Banting lecture 1988. Role of insulin resistance in human disease. 57
3056758 1988
45
X-linked dominant inherited diseases with lethality in hemizygous males. 57
6873941 1983
46
Familial partial lipodystrophy: complications of obesity in the non-obese? 57
7043176 1982
47
Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities. 57
1205025 1975
48
Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes. 57
170190 1975
49
Benign symmetric lipomatosis (Launois-Bensaude adenolipomatosis) with gout and hyperlipoproteinemia. 57
5416265 1970
50
Lipodystrophy and hepatomegaly, with diabetes, lipaemia, and other metabolic disturbances; a case throwing new light on the action of insulin. 57
20982387 1946

Variations for Lipodystrophy, Familial Partial, Type 2

ClinVar genetic disease variations for Lipodystrophy, Familial Partial, Type 2:

5 (show top 50) (show all 72)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMNA NM_170707.4(LMNA):c.178C>G (p.Arg60Gly) SNV Pathogenic
14479 rs28928900 GRCh37: 1:156084887-156084887
GRCh38: 1:156115096-156115096
2 LMNA NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp) SNV Pathogenic
14493 rs61282106 GRCh37: 1:156106725-156106725
GRCh38: 1:156136934-156136934
3 LMNA NM_170707.4(LMNA):c.1488+5G>C SNV Pathogenic
66833 rs267607543 GRCh37: 1:156106824-156106824
GRCh38: 1:156137033-156137033
4 LMNA NM_170707.4(LMNA):c.688G>A (p.Asp230Asn) SNV Pathogenic
14518 rs61214927 GRCh37: 1:156104644-156104644
GRCh38: 1:156134853-156134853
5 LMNA NM_170707.4(LMNA):c.1458G>T (p.Lys486Asn) SNV Pathogenic
66829 rs59981161 GRCh37: 1:156106789-156106789
GRCh38: 1:156136998-156136998
6 LMNA NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) SNV Pathogenic
14481 rs57520892 GRCh37: 1:156106995-156106995
GRCh38: 1:156137204-156137204
7 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) SNV Pathogenic
Pathogenic
14486 rs11575937 GRCh37: 1:156106776-156106776
GRCh38: 1:156136985-156136985
8 LMNA NM_170707.4(LMNA):c.398G>T (p.Arg133Leu) SNV Pathogenic
14488 rs60864230 GRCh37: 1:156100449-156100449
GRCh38: 1:156130658-156130658
9 LMNA NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) SNV Pathogenic
14489 rs57920071 GRCh37: 1:156106775-156106775
GRCh38: 1:156136984-156136984
10 LMNA NM_170707.4(LMNA):c.1745G>A (p.Arg582His) SNV Pathogenic
14494 rs57830985 GRCh37: 1:156108325-156108325
GRCh38: 1:156138534-156138534
11 LMNA NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) SNV Pathogenic
14517 rs60890628 GRCh37: 1:156108298-156108298
GRCh38: 1:156138507-156138507
12 LMNA NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys) SNV Pathogenic
14519 rs58672172 GRCh37: 1:156106042-156106042
GRCh38: 1:156136251-156136251
13 LMNA NM_170707.4(LMNA):c.184C>G (p.Arg62Gly) SNV Pathogenic
66868 rs56793579 GRCh37: 1:156084893-156084893
GRCh38: 1:156115102-156115102
14 LMNA NM_170707.4(LMNA):c.1961dup (p.Thr655fs) DUP Pathogenic
66878 rs863225024 GRCh37: 1:156108541-156108541
GRCh38: 1:156138749-156138750
15 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) SNV Pathogenic
36473 rs386134243 GRCh37: 1:156105758-156105758
GRCh38: 1:156135967-156135967
16 LMNA NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) SNV Pathogenic/Likely Pathogenic
66762 rs267607555 GRCh37: 1:156105800-156105800
GRCh38: 1:156136009-156136009
17 LMNA NM_170707.4(LMNA):c.168C>G (p.Asn56Lys) SNV Likely Pathogenic
1341358 GRCh37: 1:156084877-156084877
GRCh38: 1:156115086-156115086
18 LMNA NM_170707.4(LMNA):c.1699-2A>G SNV Likely Pathogenic
1285503 GRCh37: 1:156108277-156108277
GRCh38: 1:156138486-156138486
19 LMNA NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg) SNV Likely Pathogenic
66850 rs57629361 GRCh37: 1:156106998-156106998
GRCh38: 1:156137207-156137207
20 LMNA NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) SNV Likely Pathogenic
66888 rs57077886 GRCh37: 1:156084738-156084738
GRCh38: 1:156114947-156114947
21 LMNA NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) SNV Uncertain Significance
14490 rs11575937 GRCh37: 1:156106776-156106776
GRCh38: 1:156136985-156136985
22 LMNA NM_170707.4(LMNA):c.717C>A (p.Ser239Arg) SNV Uncertain Significance
1679148 GRCh37: 1:156104673-156104673
GRCh38: 1:156134882-156134882
23 LMNA NM_170707.4(LMNA):c.1698+57G>A SNV Uncertain Significance
292840 rs557334569 GRCh37: 1:156107591-156107591
GRCh38: 1:156137800-156137800
24 LMNA NM_170707.4(LMNA):c.895A>G (p.Ile299Val) SNV Uncertain Significance
48092 rs150924946 GRCh37: 1:156105062-156105062
GRCh38: 1:156135271-156135271
25 LMNA NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) SNV Uncertain Significance
66797 rs267607606 GRCh37: 1:156106090-156106090
GRCh38: 1:156136299-156136299
26 LMNA NM_170707.4(LMNA):c.1381-5G>A SNV Uncertain Significance
180405 rs730880133 GRCh37: 1:156106707-156106707
GRCh38: 1:156136916-156136916
27 LMNA NM_170707.4(LMNA):c.1756G>A (p.Val586Met) SNV Uncertain Significance
487635 rs758048062 GRCh37: 1:156108336-156108336
GRCh38: 1:156138545-156138545
28 LMNA NM_170707.4(LMNA):c.-44T>A SNV Uncertain Significance
873801 rs1185731069 GRCh37: 1:156084666-156084666
GRCh38: 1:156114875-156114875
29 LMNA NM_005572.3(LMNA):c.-210T>C SNV Uncertain Significance
292825 rs886045356 GRCh37: 1:156084500-156084500
GRCh38: 1:156114709-156114709
30 LMNA NM_170707.4(LMNA):c.-138T>C SNV Uncertain Significance
292828 rs886045359 GRCh37: 1:156084572-156084572
GRCh38: 1:156114781-156114781
31 LMNA NM_005572.3(LMNA):c.-226C>T SNV Uncertain Significance
292823 rs886045354 GRCh37: 1:156084484-156084484
GRCh38: 1:156114693-156114693
32 LMNA NM_170707.4(LMNA):c.514-11C>T SNV Uncertain Significance
292836 rs886045365 GRCh37: 1:156104183-156104183
GRCh38: 1:156134392-156134392
33 LMNA NM_170707.4(LMNA):c.294G>A (p.Glu98=) SNV Uncertain Significance
292834 rs886045363 GRCh37: 1:156085003-156085003
GRCh38: 1:156115212-156115212
34 LMNA NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) SNV Uncertain Significance
292835 rs886045364 GRCh37: 1:156085004-156085004
GRCh38: 1:156115213-156115213
35 LMNA NM_170707.4(LMNA):c.796A>G (p.Thr266Ala) SNV Uncertain Significance
874034 rs1651418246 GRCh37: 1:156104752-156104752
GRCh38: 1:156134961-156134961
36 LMNA NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) SNV Uncertain Significance
224680 rs775159300 GRCh37: 1:156105740-156105740
GRCh38: 1:156135949-156135949
37 LMNA NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu) SNV Uncertain Significance
876083 rs505058 GRCh37: 1:156106185-156106185
GRCh38: 1:156136394-156136394
38 LMNA NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) SNV Uncertain Significance
Uncertain Significance
245964 rs200466188 GRCh37: 1:156106818-156106818
GRCh38: 1:156137027-156137027
39 LMNA NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) SNV Uncertain Significance
200934 rs60864230 GRCh37: 1:156100449-156100449
GRCh38: 1:156130658-156130658
40 LMNA NM_170707.4(LMNA):c.1698+83G>A SNV Uncertain Significance
875382 rs555844506 GRCh37: 1:156107617-156107617
GRCh38: 1:156137826-156137826
41 LMNA NM_170707.4(LMNA):c.937-8C>A SNV Uncertain Significance
222694 rs751707982 GRCh37: 1:156105684-156105684
GRCh38: 1:156135893-156135893
42 LMNA NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) SNV Uncertain Significance
656550 rs749784223 GRCh37: 1:156105782-156105782
GRCh38: 1:156135991-156135991
43 LMNA NM_170707.4(LMNA):c.749C>T (p.Ala250Val) SNV Uncertain Significance
48078 rs397517907 GRCh37: 1:156104705-156104705
GRCh38: 1:156134914-156134914
44 LMNA NM_170707.4(LMNA):c.953C>T (p.Ala318Val) SNV Uncertain Significance
586129 rs1212920276 GRCh37: 1:156105708-156105708
GRCh38: 1:156135917-156135917
45 LMNA NM_170707.4(LMNA):c.1517A>C (p.His506Pro) SNV Uncertain Significance
242003 rs878855233 GRCh37: 1:156106932-156106932
GRCh38: 1:156137141-156137141
46 LMNA NM_170707.4(LMNA):c.356+12C>A SNV Uncertain Significance
875747 rs1649747809 GRCh37: 1:156085077-156085077
GRCh38: 1:156115286-156115286
47 LMNA NM_170707.4(LMNA):c.471G>A (p.Thr157=) SNV Likely Benign
200936 rs150645079 GRCh37: 1:156100522-156100522
GRCh38: 1:156130731-156130731
48 LMNA NM_170707.4(LMNA):c.-128T>C SNV Likely Benign
292829 rs80356803 GRCh37: 1:156084582-156084582
GRCh38: 1:156114791-156114791
49 LMNA NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) SNV Likely Benign
570103 rs267607598 GRCh37: 1:156106205-156106205
GRCh38: 1:156136414-156136414
50 LMNA NM_170707.4(LMNA):c.1551G>A (p.Gln517=) SNV Likely Benign
199111 rs41314035 GRCh37: 1:156106966-156106966
GRCh38: 1:156137175-156137175

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

73 (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

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 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 SREBF1 PPARG PLIN1 LIPE INS CIDEC
2 13.66 SREBF1 PPARG PLIN1 LMNB1 LEP INS
3
Show member pathways
12.46 SREBF1 PPARG PLIN1 LEP ADIPOQ
4 12.42 LMNB2 LMNB1 LMNA EMD CAVIN1 CAV1
5
Show member pathways
12.4 LMNB1 LMNA EMD BANF1
6 12.4 SREBF1 PPARG PLIN1 LIPE INS BSCL2
7
Show member pathways
12.25 SREBF1 LMNB2 LMNB1 LMNA AKT2
8
Show member pathways
12.12 AKT2 INS LEP LIPE
9
Show member pathways
12.04 SREBF1 INS CAV1 AKT2
10
Show member pathways
12.04 SREBF1 LIPE LEP INS AKT2 ADIPOQ
11
Show member pathways
11.87 PPARG PLIN1 LIPE
12
Show member pathways
11.81 ZMPSTE24 SREBF1 PPARG LMNA EMD ADIPOQ
13 11.8 PPARG LEP INS ADIPOQ
14
Show member pathways
11.79 LMNB1 EMD CAV1
15
Show member pathways
11.73 PPARG PLIN1 ADIPOQ
16
Show member pathways
11.66 PLIN1 LIPE CAV1
17
Show member pathways
11.51 LMNB2 LMNB1 LMNA
18 11.48 ZMPSTE24 SREBF1 PPARG PLIN1 LMNA LIPE
19 11.43 LEP INS CAV1
20 11.4 INS CAV1 AKT2
21 11.4 SREBF1 LEP INS ADIPOQ
22
Show member pathways
11.39 SREBF1 PPARG INS
23 11.11 PPARG LEP ADIPOQ
24 11.07 ZMPSTE24 SREBF1 PPARG PLIN1 LMNB2 LMNB1
25 11.03 ADIPOQ LEP PPARG
26
Show member pathways
10.98 ZMPSTE24 PPARG LMNB2 LMNB1 LMNA BANF1
27 10.95 LEP INS
28 10.95 AGPAT2 AKT2 BSCL2 CAV1 CAVIN1
29 10.93 INS AKT2
30 10.87 PLIN1 LIPE
31 10.65 LMNB2 LMNB1 LMNA

GO Terms for Lipodystrophy, Familial Partial, Type 2

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 10.19 ZMPSTE24 SREBF1 PLIN1 EMD CIDEC CAVIN1
2 nuclear inner membrane GO:0005637 9.85 ZMPSTE24 LMNB1 EMD
3 lipid droplet GO:0005811 9.65 PLIN1 LIPE CIDEC CAV1 BSCL2
4 nuclear lamina GO:0005652 9.63 LMNA LMNB1 LMNB2
5 lamin filament GO:0005638 9.62 LMNB1 LMNA
6 nuclear envelope GO:0005635 9.44 ZMPSTE24 SREBF1 LMNB2 LMNB1 LMNA EMD

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.14 SREBF1 PPARG PLIN1 LIPE LEP BSCL2
2 glucose homeostasis GO:0042593 10.1 PPARG LEP INS ADIPOQ
3 insulin receptor signaling pathway GO:0008286 10.08 SREBF1 INS AKT2
4 positive regulation of cold-induced thermogenesis GO:0120162 10.06 ADIPOQ BSCL2 CAV1 LEP
5 negative regulation of MAP kinase activity GO:0043407 10.02 ADIPOQ CAV1 PPARG
6 response to nutrient GO:0007584 9.99 PPARG LEP ADIPOQ
7 positive regulation of glucose import GO:0046326 9.99 INS AKT2 ADIPOQ
8 heterochromatin formation GO:0031507 9.95 LMNB2 LMNB1 LMNA
9 glucose metabolic process GO:0006006 9.92 ADIPOQ AKT2 INS LEP
10 positive regulation of cholesterol efflux GO:0010875 9.91 PPARG CAV1 ADIPOQ
11 cellular response to insulin stimulus GO:0032869 9.91 SREBF1 PPARG LEP AKT2 ADIPOQ
12 negative regulation of lipid storage GO:0010888 9.9 PPARG LEP
13 negative regulation of cardiac muscle hypertrophy in response to stress GO:1903243 9.88 PPARG LMNA
14 regulation of fatty acid metabolic process GO:0019217 9.87 SREBF1 CAV1
15 nuclear migration GO:0007097 9.85 LMNB2 LMNB1 LMNA
16 positive regulation of fatty acid metabolic process GO:0045923 9.83 PPARG ADIPOQ
17 regulation of protein localization to nucleus GO:1900180 9.76 LMNA LEP
18 negative regulation of acute inflammatory response GO:0002674 9.73 PPARG INS
19 cellular response to hyperoxia GO:0071455 9.71 PPARG CAV1
20 protein localization to nuclear envelope GO:0090435 9.63 LMNB2 LMNB1 LMNA
21 nuclear pore localization GO:0051664 9.43 LMNB2 LMNB1 LMNA
22 nuclear envelope organization GO:0006998 9.23 ZMPSTE24 LMNB2 LMNB1 LMNA

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

# Name GO ID Score Top Affiliating Genes
1 double-stranded DNA binding GO:0003690 9.17 ZMPSTE24 PPARG LMNB1 BANF1

Sources for Lipodystrophy, Familial Partial, Type 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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