APLD
MCID: LPD019
MIFTS: 44

Lipodystrophy, Partial, Acquired (APLD)

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, Partial, Acquired

MalaCards integrated aliases for Lipodystrophy, Partial, Acquired:

Name: Lipodystrophy, Partial, Acquired 57 12 38
Acquired Partial Lipodystrophy 58 28 5 71 75 33
Barraquer-Simons Syndrome 57 19 58 73 75 33
Lipodystrophy, Partial, Acquired, Susceptibility to 57 5
Progressive Cephalothoracic Lipodystrophy 58 33
Apld 57 73
Apl 19 73
Susceptibility to Partial Acquired Lipodystrophy 16
Lipodystrophy, Cephalothoracic Type 57
Lipodystrophy, Partial, Progressive 57
Lipodystrophy Cephalothoracic Type 19
Cephalothoracic Type Lipodystrophy 73
Partial Progressive Lipodystrophy 73
Lipodystophy Partial Progressive 19
Lipodystrophy Partial Acquired 19
Partial Acquired Lipodystrophy 73
Apld, Susceptibility to 57

Characteristics:


Inheritance:

Lipodystrophy, Partial, Acquired: Autosomal dominant 57
Acquired Partial Lipodystrophy: Multigenic/multifactorial 58

Prevelance:

Acquired Partial Lipodystrophy: 1-9/1000000 (Europe) 58

Age Of Onset:

Acquired Partial Lipodystrophy: Adolescent,Adult,Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable phenotype
onset in first or second decade
more common in females (male:female ratio 4:1)
no family history, de novo mutations
association with autoimmune diseases


Classifications:

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


Summaries for Lipodystrophy, Partial, Acquired

OMIM®: 57 Acquired partial lipodystrophy is characterized clinically by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the 'cephalocaudal' sequence, sparing the lower extremities (summary by Misra et al., 2004). The disorder is not inherited in a classic mendelian pattern; it rather represents a phenotype with a complex etiology. Affected individuals may have genetic susceptibility factors that require the additional presence of environmental factors or acquired disorders to be expressed (summary by Hegele et al., 2006). Most cases are sporadic, family history is negative, and females are more often affected than males (ratio, 4:1). There is an association between APLD and autoimmune diseases (Misra and Garg, 2003; Misra et al., 2004), and a subset of patients have APLD associated with low serum complement component C3 and the autoantibody C3 nephritic factor, with or without membranoproliferative glomerulonephritis (APLDC3; 613913). Acquired partial lipodystrophy is distinct from inherited forms of partial lipodystrophy, which are metabolic disorders that show clear mendelian inheritance (see, e.g., FPLD1, 608600). (608709) (Updated 08-Dec-2022)

MalaCards based summary: Lipodystrophy, Partial, Acquired, also known as acquired partial lipodystrophy, is related to acute promyelocytic leukemia and lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis. An important gene associated with Lipodystrophy, Partial, Acquired is LMNB2 (Lamin B2). Affiliated tissues include skin, kidney and ovary, and related phenotypes are lipoatrophy and intellectual disability

GARD: 19 Barraquer-Simons syndrome, or acquired partial lipodystrophy, is characterized by the loss of fat from the face, neck, shoulders, arms, forearms, chest and abdomen. Occasionally the groin or thighs are also affected. Onset usually begins in childhood following a viral illness. It affects females more often than males. Following puberty, affected women may experience a disproportionate accumulation of fat in the hips and lower limbs. Around 1 in 5 people with this syndrome develop membranoproliferative glomerulonephritis. This kidney condition usually develops more than 10 years after the lipodystrophy's onset. Autoimmune disorders may also occur in association with this syndrome.

UniProtKB/Swiss-Prot: 73 A rare childhood disease characterized by loss of subcutaneous fat from the face and trunk. Fat deposition on the pelvic girdle and lower limbs is normal or excessive. Most frequently, onset between 5 and 15 years of age. Most affected subjects are females and some show no other abnormality, but many develop glomerulonephritis, diabetes mellitus, hyperlipidemia, and complement deficiency. Intellectual disability in some cases. APLD is a sporadic disorder of unknown etiology.

Orphanet: 58 A rare acquired lipodystrophy characterized by bilateral, symmetrical lipoatrophy of the upper body (face, neck, arms, thorax and sometimes upper abdomen) with sparing of the lower extremities and cephalothoracic progression. The disease may be associated with low serum levels of C3 and presence of C3-nephritic factor.

Wikipedia: 75 Barraquer-Simons syndrome is a rare form of lipodystrophy, which usually first affects the head, and... more...

Related Diseases for Lipodystrophy, Partial, Acquired

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, Partial, Acquired via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 179)
# Related Disease Score Top Affiliating Genes
1 acute promyelocytic leukemia 11.7
2 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis 11.5
3 atrichia with papular lesions 11.2
4 leukemia 10.7
5 leukemia, acute myeloid 10.6
6 antiphospholipid syndrome 10.6
7 acute myeloid leukemia with recurrent genetic anomaly 10.6
8 acquired lipodystrophy 10.5
9 myeloid leukemia 10.3
10 lipomatosis, multiple symmetric 10.3
11 congenital generalized lipodystrophy 10.3
12 myopathy 10.3
13 systemic lupus erythematosus 10.3
14 glomerulonephritis 10.3
15 autoimmune disease 10.3
16 systemic lupus erythematosus 1 10.3
17 disseminated intravascular coagulation 10.3
18 lupus erythematosus 10.2
19 hypertriglyceridemia 1 10.2
20 lipomatosis, multiple 10.2
21 iga nephropathy 1 10.2
22 vitiligo-associated multiple autoimmune disease susceptibility 6 10.2
23 lipodystrophy, congenital generalized, type 2 10.2
24 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2
25 lipodystrophy, congenital generalized, type 1 10.2
26 ptosis 10.2
27 acquired generalized lipodystrophy 10.2
28 sensorineural hearing loss 10.2
29 hypothyroidism 10.2
30 iga glomerulonephritis 10.2
31 lipid metabolism disorder 10.2
32 systemic scleroderma 10.2
33 extrinsic allergic alveolitis 10.2
34 localized scleroderma 10.2
35 c3 glomerulopathy 10.2
36 membranoproliferative glomerulonephritis 10.2
37 thrombosis 10.2
38 myelodysplastic syndrome 10.1
39 amyloidosis 10.1
40 fatty liver disease 1 10.1
41 non-alcoholic fatty liver disease 10.1
42 dermatomyositis 10.1
43 prediabetes syndrome 10.1
44 hemiplegia 10.1
45 acute leukemia 10.1
46 primary agammaglobulinemia 10.1
47 chronic bilirubin encephalopathy 10.1
48 stroke, ischemic 10.0
49 tatton-brown-rahman syndrome 10.0
50 pre-eclampsia 10.0

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



Diseases related to Lipodystrophy, Partial, Acquired

Symptoms & Phenotypes for Lipodystrophy, Partial, Acquired

Human phenotypes related to Lipodystrophy, Partial, Acquired:

58 30 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lipoatrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100578
2 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001249
3 seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0001250
4 hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000365
5 myopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0003198
6 autoimmunity 58 30 Frequent (33%) Frequent (79-30%)
HP:0002960
7 lymphocytosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0100827
8 progeroid facial appearance 58 30 Frequent (33%) Frequent (79-30%)
HP:0005328
9 decreased serum complement c3 58 30 Frequent (33%) Frequent (79-30%)
HP:0005421
10 proteinuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000093
11 immunodeficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002721
12 hepatic steatosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001397
13 arthralgia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002829
14 glomerulopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100820
15 generalized hirsutism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002230
16 insulin resistance 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000855
17 microscopic hematuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002907
18 diabetes mellitus 30 HP:0000819
19 nephrotic syndrome 30 HP:0000100
20 hematuria 30 HP:0000790
21 abnormal circulating lipid concentration 30 HP:0003119
22 polycystic ovaries 30 HP:0000147
23 recurrent infections 30 HP:0002719
24 hirsutism 30 HP:0001007
25 membranoproliferative glomerulonephritis 30 HP:0000793
26 loss of truncal subcutaneous adipose tissue 30 HP:0009002
27 progressive loss of facial adipose tissue 30 HP:0009019
28 loss of subcutaneous adipose tissue from upper limbs 30 HP:0009056

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Endocrine Features:
diabetes mellitus
polycystic ovary disease

Head And Neck Face:
loss of subcutaneous adipose tissue from face
sunken face
'progeroid' expression

Immunology:
association with autoimmune disease

Skin Nails Hair Hair:
hirsutism

Muscle Soft Tissue:
loss of subcutaneous adipose tissue from face, progressive
loss of subcutaneous adipose tissue from upper limbs and trunk

Laboratory Abnormalities:
dyslipidemia

Clinical features from OMIM®:

608709 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lipodystrophy, Partial, Acquired

Search Clinical Trials, NIH Clinical Center for Lipodystrophy, Partial, Acquired

Genetic Tests for Lipodystrophy, Partial, Acquired

Genetic tests related to Lipodystrophy, Partial, Acquired:

# Genetic test Affiliating Genes
1 Acquired Partial Lipodystrophy 28

Anatomical Context for Lipodystrophy, Partial, Acquired

Organs/tissues related to Lipodystrophy, Partial, Acquired:

MalaCards : Skin, Kidney, Ovary, Liver, Bone Marrow, Adipocyte, Bone

Publications for Lipodystrophy, Partial, Acquired

Articles related to Lipodystrophy, Partial, Acquired:

(show top 50) (show all 193)
# Title Authors PMID Year
1
A Chinese patient with acquired partial lipodystrophy caused by a novel mutation with LMNB2 gene. 62 57 5
22768673 2012
2
Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. 62 57 5
16826530 2006
3
Two new cases of Barraquer-Simons syndrome. 62 57
15098243 2004
4
Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature. 62 57
14747765 2004
5
Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature. 57
12640189 2003
6
Partial lipodystrophy associated with juvenile dermatomyositis: report of two cases. 57
8987057 1996
7
Familial incidence of C3 nephritic factor, partial lipodystrophy and membranoproliferative glomerulonephritis. 57
2385743 1990
8
Activation of the classic complement pathway in patients with the C3 nephritic factor. 57
6986570 1980
9
Cephalothoracic lipodystrophy with hypocomplementemic renal disease: discordance in identical twin sisters. 57
122289 1978
10
The complement abnormalities of lipodystrophy. 57
1246331 1976
11
[Nephropathies in progressive lipodystrophy or Barraquer-Simons disease]. 57
5854037 1965
12
[On lipodystrophia progressiva (Follow-up study of the case published by A. Simons in 1911 for the first time in German literature)]. 57
13853572 1960
13
Lipodystrophy for the Diabetologist-What to Look For. 62
35821558 2022
14
3T high-resolution magnetic resonance imaging, conventional ultrasonography and ultrasound biomicroscopy of the normal canine eye. 62
35144606 2022
15
Autoimmune hepatitis and acquired partial lipodystrophy. 62
35300473 2022
16
LIFELONG PROGRESSIVE RETINAL ATROPHIC LESIONS IN A PATIENT WITH PARTIAL ACQUIRED LIPODYSTROPHY (BARRAQUER-SIMONS SYNDROME). 62
31453930 2022
17
Barraquer-Simons syndrome in systemic lupus erythematosus: A case report. 62
34849231 2021
18
Correction: Barraquer-Simons syndrome: a unique patient's perspective on diagnosis, disease progression and recontouring treatment. 62
34230041 2021
19
Percutaneous discectomy under CT and fluoroscopy guidance: an international multicentric study. 62
33783556 2021
20
Complement Factor D (adipsin) Levels Are Elevated in Acquired Partial Lipodystrophy (Barraquer-Simons syndrome). 62
34205507 2021
21
Bilateral macular drusen in acquired partial lipodystrophy with type 2 membranoproliferative glomerulonephritis. 62
34155011 2021
22
Deep optic nerve head morphology and glaucoma progression in eyes with and without laminar dot sign: a longitudinal comparative study. 62
32499586 2021
23
Eight Surgical Interventions for Lumbar Disc Herniation: A Network Meta-Analysis on Complications. 62
34355013 2021
24
Prevalence of Hepatic Encephalopathy from a Commercial Medical Claims Database in the United States. 62
34211786 2021
25
Evidence of ongoing complement activation on adipose tissue from an 11-year-old girl with Barraquer-Simons syndrome. 62
32890433 2020
26
Lipotransfer provides effective soft tissue replacement for acquired partial lipodystrophy. 62
32404319 2020
27
Correction to: Immunological features of patients affected by Barraquer-Simons syndrome. 62
32228621 2020
28
Imaging spectrum of abnormal subcutaneous and visceral fat distribution. 62
32056035 2020
29
Immunological features of patients affected by Barraquer-Simons syndrome. 62
31924231 2020
30
Abnormal lipid storage related to adipocyte shrinkage in acquired partial lipodystrophy (Barraquer-Simons syndrome). 62
30472754 2019
31
Efficacy of automated percutaneous lumbar discectomy for lumbar disc herniation in young male soldiers. 62
31725682 2019
32
Fatty Liver and Autoimmune Hepatitis: Two Forms of Liver Involvement in Lipodystrophies. 62
31559327 2019
33
An overview of lipodystrophy and the role of the complement system. 62
31177059 2019
34
Acquired partial lipodystrophy with metabolic disease in children following hematopoietic stem cell transplantation: a report of two cases and a review of the literature. 62
31075084 2019
35
A case of bilateral Parry-Romberg syndrome successfully treated with hyaluronic acid filler augmentation. 62
30985058 2019
36
A subset of patients with acquired partial lipodystrophy developing severe metabolic abnormalities. 62
30182761 2019
37
Lipodystrophies, dyslipidaemias and atherosclerotic cardiovascular disease. 62
30595509 2019
38
The association between prelaminar tissue thickness and peripapillary choroidal thickness in untreated normal-tension glaucoma patients. 62
30608458 2019
39
Acquired Partial Lipodystrophy Associated with Anti-Mi-2 Antibody-positive Adult-onset Dermatomyositis. 62
30182133 2019
40
AN UNUSUAL CASE OF ACQUIRED PARTIAL LIPODYSTROPHY PRESENTING WITH ACANTHOSIS NIGRICANS. 62
31149072 2019
41
Hyaluronic acid fillers for correcting midface volume deficit in Barraquer-Simons syndrome. 62
30604443 2019
42
Acquired partial lipodystrophy treated with poly-L-lactic acid and hyaluronic acid fillers: a case report. 62
30118355 2019
43
Antibacterial and Antibiotic Modifying Potential of Crude Extracts, Fractions, and Compounds from Acacia polyacantha Willd. against MDR Gram-Negative Bacteria. 62
30956683 2019
44
Nephritic Factors: An Overview of Classification, Diagnostic Tools and Clinical Associations. 62
31068950 2019
45
Analysis of C3 Nephritic Factors by ELISA. 62
30539576 2019
46
A quantitative image analysis pipeline for the characterization of filamentous fungal morphologies as a tool to uncover targets for morphology engineering: a case study using aplD in Aspergillus niger. 62
31223339 2019
47
"Fat Shadows" From DXA for the Qualitative Assessment of Lipodystrophy: When a Picture Is Worth a Thousand Numbers. 62
30237235 2018
48
Acquired Partial Lipodystrophy (Barraquer-Simons Syndrome): Early Cosmetic Intervention with Autologous Fat. 62
33911488 2018
49
Acquired partial lipodystrophy and C3 glomerulopathy: Dysregulation of the complement system as a common pathogenic mechanism. 62
29279276 2018
50
Autoantibodies Against Perilipin 1 as a Cause of Acquired Generalized Lipodystrophy. 62
30283460 2018

Variations for Lipodystrophy, Partial, Acquired

ClinVar genetic disease variations for Lipodystrophy, Partial, Acquired:

5 (show top 50) (show all 398)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMNB2 NM_032737.4(LMNB2):c.1279G>A (p.Ala427Thr) SNV Risk Factor
Uncertain Significance
14475 rs57521499 GRCh37: 19:2434027-2434027
GRCh38: 19:2434029-2434029
2 LMNB2 LMNB2, TYR232HIS SNV Risk Factor
208979 GRCh37:
GRCh38:
3 LMNB2 NM_032737.4(LMNB2):c.265-6C>T SNV Risk Factor
Likely Benign
66746 rs267607650 GRCh37: 19:2444544-2444544
GRCh38: 19:2444546-2444546
4 LMNB2 NM_032737.4(LMNB2):c.1221C>A (p.Ser407Arg) SNV Uncertain Significance
475770 rs766553520 GRCh37: 19:2434085-2434085
GRCh38: 19:2434087-2434087
5 LMNB2 NM_032737.4(LMNB2):c.418G>A (p.Gly140Ser) SNV Uncertain Significance
566358 rs1279810346 GRCh37: 19:2438513-2438513
GRCh38: 19:2438515-2438515
6 LMNB2 NM_032737.4(LMNB2):c.1699G>A (p.Ala567Thr) SNV Uncertain Significance
435781 rs760189690 GRCh37: 19:2431792-2431792
GRCh38: 19:2431794-2431794
7 LMNB2 NM_032737.4(LMNB2):c.1202+4C>G SNV Uncertain Significance
568398 rs756666958 GRCh37: 19:2434289-2434289
GRCh38: 19:2434291-2434291
8 LMNB2 NM_032737.4(LMNB2):c.658G>C (p.Asp220His) SNV Uncertain Significance
571534 rs1568203965 GRCh37: 19:2438187-2438187
GRCh38: 19:2438189-2438189
9 LMNB2 NM_032737.4(LMNB2):c.1256C>G (p.Ser419Trp) SNV Uncertain Significance
475771 rs368949581 GRCh37: 19:2434050-2434050
GRCh38: 19:2434052-2434052
10 LMNB2 NM_032737.4(LMNB2):c.1821+4G>A SNV Uncertain Significance
475780 rs779811801 GRCh37: 19:2431542-2431542
GRCh38: 19:2431544-2431544
11 LMNB2 NM_032737.4(LMNB2):c.443G>A (p.Arg148His) SNV Uncertain Significance
475784 rs779429811 GRCh37: 19:2438488-2438488
GRCh38: 19:2438490-2438490
12 LMNB2 NM_032737.4(LMNB2):c.1244C>T (p.Ser415Leu) SNV Uncertain Significance
542427 rs201335788 GRCh37: 19:2434062-2434062
GRCh38: 19:2434064-2434064
13 LMNB2 NM_032737.4(LMNB2):c.157C>T (p.Leu53Phe) SNV Uncertain Significance
542429 rs1555684976 GRCh37: 19:2456775-2456775
GRCh38: 19:2456777-2456777
14 LMNB2 NM_032737.4(LMNB2):c.1091G>A (p.Arg364Gln) SNV Uncertain Significance
542430 rs767615829 GRCh37: 19:2434404-2434404
GRCh38: 19:2434406-2434406
15 LMNB2 NM_032737.4(LMNB2):c.477C>A (p.Ser159Arg) SNV Uncertain Significance
542431 rs923000484 GRCh37: 19:2438454-2438454
GRCh38: 19:2438456-2438456
16 LMNB2 NM_032737.4(LMNB2):c.1682G>T (p.Arg561Leu) SNV Uncertain Significance
542434 rs145444042 GRCh37: 19:2431809-2431809
GRCh38: 19:2431811-2431811
17 LMNB2 NM_032737.4(LMNB2):c.273C>T (p.Gly91=) SNV Uncertain Significance
542435 rs1163719792 GRCh37: 19:2444530-2444530
GRCh38: 19:2444532-2444532
18 LMNB2 NM_032737.4(LMNB2):c.575C>T (p.Ala192Val) SNV Uncertain Significance
565970 rs1389587109 GRCh37: 19:2438270-2438270
GRCh38: 19:2438272-2438272
19 LMNB2 NM_032737.4(LMNB2):c.1256C>T (p.Ser419Leu) SNV Uncertain Significance
577353 rs368949581 GRCh37: 19:2434050-2434050
GRCh38: 19:2434052-2434052
20 LMNB2 NM_032737.4(LMNB2):c.457G>A (p.Glu153Lys) SNV Uncertain Significance
583240 rs1568204139 GRCh37: 19:2438474-2438474
GRCh38: 19:2438476-2438476
21 LMNB2 NM_032737.4(LMNB2):c.331G>T (p.Ala111Ser) SNV Uncertain Significance
655365 rs1599338116 GRCh37: 19:2444472-2444472
GRCh38: 19:2444474-2444474
22 LMNB2 NM_032737.4(LMNB2):c.614G>A (p.Arg205His) SNV Uncertain Significance
1036784 rs767067963 GRCh37: 19:2438231-2438231
GRCh38: 19:2438233-2438233
23 LMNB2 NM_032737.4(LMNB2):c.284T>G (p.Leu95Arg) SNV Uncertain Significance
1378450 GRCh37: 19:2444519-2444519
GRCh38: 19:2444521-2444521
24 LMNB2 NM_032737.4(LMNB2):c.557A>T (p.Lys186Met) SNV Uncertain Significance
1387321 GRCh37: 19:2438374-2438374
GRCh38: 19:2438376-2438376
25 LMNB2 NM_032737.4(LMNB2):c.1297C>T (p.Arg433Cys) SNV Uncertain Significance
1383253 GRCh37: 19:2434009-2434009
GRCh38: 19:2434011-2434011
26 LMNB2 NM_032737.4(LMNB2):c.1711-3C>T SNV Uncertain Significance
1383768 GRCh37: 19:2431659-2431659
GRCh38: 19:2431661-2431661
27 LMNB2 NM_032737.4(LMNB2):c.310C>T (p.Arg104Trp) SNV Uncertain Significance
1383813 GRCh37: 19:2444493-2444493
GRCh38: 19:2444495-2444495
28 LMNB2 NM_032737.4(LMNB2):c.1350C>A (p.Ser450Arg) SNV Uncertain Significance
1384046 GRCh37: 19:2433956-2433956
GRCh38: 19:2433958-2433958
29 LMNB2 NM_032737.4(LMNB2):c.1634C>T (p.Thr545Met) SNV Uncertain Significance
1389668 GRCh37: 19:2431857-2431857
GRCh38: 19:2431859-2431859
30 LMNB2 NM_032737.4(LMNB2):c.1126G>C (p.Glu376Gln) SNV Uncertain Significance
1405030 GRCh37: 19:2434369-2434369
GRCh38: 19:2434371-2434371
31 LMNB2 NM_032737.4(LMNB2):c.692G>A (p.Arg231Gln) SNV Uncertain Significance
1392073 GRCh37: 19:2435162-2435162
GRCh38: 19:2435164-2435164
32 LMNB2 NM_032737.4(LMNB2):c.1202+5G>A SNV Uncertain Significance
1410357 GRCh37: 19:2434288-2434288
GRCh38: 19:2434290-2434290
33 LMNB2 NM_032737.4(LMNB2):c.43C>T (p.Pro15Ser) SNV Uncertain Significance
1411053 GRCh37: 19:2456889-2456889
GRCh38: 19:2456891-2456891
34 LMNB2 NM_032737.4(LMNB2):c.1481A>C (p.Lys494Thr) SNV Uncertain Significance
1403702 GRCh37: 19:2433825-2433825
GRCh38: 19:2433827-2433827
35 LMNB2 NM_032737.4(LMNB2):c.911G>A (p.Arg304His) SNV Uncertain Significance
1440208 GRCh37: 19:2434856-2434856
GRCh38: 19:2434858-2434858
36 LMNB2 NM_032737.4(LMNB2):c.29G>T (p.Arg10Leu) SNV Uncertain Significance
1364602 GRCh37: 19:2456903-2456903
GRCh38: 19:2456905-2456905
37 LMNB2 NM_032737.4(LMNB2):c.1475C>T (p.Ser492Leu) SNV Uncertain Significance
1413080 GRCh37: 19:2433831-2433831
GRCh38: 19:2433833-2433833
38 LMNB2 NM_032737.4(LMNB2):c.1700C>T (p.Ala567Val) SNV Uncertain Significance
1420413 GRCh37: 19:2431791-2431791
GRCh38: 19:2431793-2431793
39 LMNB2 NM_032737.4(LMNB2):c.5G>A (p.Ser2Asn) SNV Uncertain Significance
1427479 GRCh37: 19:2456927-2456927
GRCh38: 19:2456929-2456929
40 LMNB2 NM_032737.4(LMNB2):c.705_719del (p.Arg236_Arg240del) DEL Uncertain Significance
1429157 GRCh37: 19:2435135-2435149
GRCh38: 19:2435137-2435151
41 LMNB2 NM_032737.4(LMNB2):c.1204C>T (p.Leu402=) SNV Uncertain Significance
1429753 GRCh37: 19:2434102-2434102
GRCh38: 19:2434104-2434104
42 LMNB2 NM_032737.4(LMNB2):c.395A>G (p.Asn132Ser) SNV Uncertain Significance
1473987 GRCh37: 19:2444408-2444408
GRCh38: 19:2444410-2444410
43 LMNB2 NM_032737.4(LMNB2):c.37C>T (p.Arg13Cys) SNV Uncertain Significance
1439036 GRCh37: 19:2456895-2456895
GRCh38: 19:2456897-2456897
44 LMNB2 NM_032737.4(LMNB2):c.772C>T (p.Gln258Ter) SNV Uncertain Significance
1488655 GRCh37: 19:2435082-2435082
GRCh38: 19:2435084-2435084
45 LMNB2 NM_032737.4(LMNB2):c.843C>G (p.Thr281=) SNV Uncertain Significance
1476499 GRCh37: 19:2435011-2435011
GRCh38: 19:2435013-2435013
46 LMNB2 NM_032737.4(LMNB2):c.684+3G>A SNV Uncertain Significance
1518225 GRCh37: 19:2438158-2438158
GRCh38: 19:2438160-2438160
47 LMNB2 NM_032737.4(LMNB2):c.922A>G (p.Lys308Glu) SNV Uncertain Significance
1503753 GRCh37: 19:2434845-2434845
GRCh38: 19:2434847-2434847
48 LMNB2 NM_032737.4(LMNB2):c.940C>A (p.Leu314Met) SNV Uncertain Significance
1521690 GRCh37: 19:2434827-2434827
GRCh38: 19:2434829-2434829
49 LMNB2 NM_032737.4(LMNB2):c.1413G>A (p.Ser471=) SNV Uncertain Significance
1525813 GRCh37: 19:2433893-2433893
GRCh38: 19:2433895-2433895
50 LMNB2 NM_032737.4(LMNB2):c.1618del (p.His540fs) DEL Uncertain Significance
1040528 rs1971745538 GRCh37: 19:2431873-2431873
GRCh38: 19:2431875-2431875

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

73
# Symbol AA change Variation ID SNP ID
1 LMNB2 p.Ala427Thr VAR_031064 rs57521499
2 LMNB2 p.Tyr252His VAR_074171

Expression for Lipodystrophy, Partial, Acquired

Search GEO for disease gene expression data for Lipodystrophy, Partial, Acquired.

Pathways for Lipodystrophy, Partial, Acquired

GO Terms for Lipodystrophy, Partial, Acquired

Sources for Lipodystrophy, Partial, Acquired

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