APLD
MCID: LPD019
MIFTS: 45

Lipodystrophy, Partial, Acquired (APLD)

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

Aliases & Classifications for Lipodystrophy, Partial, Acquired

MalaCards integrated aliases for Lipodystrophy, Partial, Acquired:

Name: Lipodystrophy, Partial, Acquired 58 41
Acquired Partial Lipodystrophy 60 30 6 74
Barraquer-Simons Syndrome 58 54 60 76
Lipodystrophy, Partial, Acquired, Susceptibility to 58 13 6
Apld 58 76
Apl 54 76
Progressive Cephalothoracic Lipodystrophy 60
Lipodystrophy, Cephalothoracic Type 58
Lipodystrophy, Partial, Progressive 58
Lipodystrophy Cephalothoracic Type 54
Cephalothoracic Type Lipodystrophy 76
Partial Progressive Lipodystrophy 76
Lipodystophy Partial Progressive 54
Lipodystrophy Partial Acquired 54
Partial Acquired Lipodystrophy 76
Apld, Susceptibility to 58

Characteristics:

Orphanet epidemiological data:

60
acquired partial lipodystrophy
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
lipodystrophy, partial, acquired:
Onset and clinical course phenotypic variability juvenile onset
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Lipodystrophy, Partial, Acquired

OMIM : 58 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)

MalaCards based summary : Lipodystrophy, Partial, Acquired, also known as acquired partial lipodystrophy, is related to lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis and acute promyelocytic leukemia. An important gene associated with Lipodystrophy, Partial, Acquired is LMNB2 (Lamin B2), and among its related pathways/superpathways are Apoptosis and survival Caspase cascade and Gastric Cancer Network 2. The drugs Insulin, Globin Zinc and insulin have been mentioned in the context of this disorder. Affiliated tissues include ovary, skin and bone, and related phenotypes are lipoatrophy and intellectual disability

NIH Rare Diseases : 54 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. The fat loss usually has a 18 month course, but can come and go over the course of several years.  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 : 76 Partial acquired lipodystrophy: 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. Mental retardation in some cases. APLD is a sporadic disorder of unknown etiology.

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
Familial Partial Lipodystrophy Due to Akt2 Mutations

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis 12.4
2 acute promyelocytic leukemia 12.2
3 antiphospholipid syndrome 11.4
4 sneddon syndrome 11.3
5 atrichia with papular lesions 11.3
6 leukemia 10.9
7 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.4
8 iga glomerulonephritis 10.3
9 extrinsic allergic alveolitis 10.3
10 localized scleroderma 10.3
11 systemic lupus erythematosus 10.2
12 lupus erythematosus 10.2
13 c3 glomerulopathy 10.1
14 non-immunoglobulin-mediated membranoproliferative glomerulonephritis 10.1
15 achondroplasia 10.0
16 myelodysplastic syndrome 10.0
17 lymphoma 10.0
18 thrombosis 10.0
19 diabetes mellitus, noninsulin-dependent 9.9
20 rheumatoid arthritis 9.9
21 graft-versus-host disease 9.9
22 arthritis 9.9
23 dermatomyositis 9.9
24 poems syndrome 9.9
25 adult dermatomyositis 9.9
26 myopathy 9.9
27 chronic graft versus host disease 9.9
28 undifferentiated connective tissue disease 9.9
29 phosphatase, acid, of tissues 9.9
30 acid phosphatase deficiency 9.9
31 intracranial hypertension, idiopathic 9.9
32 stroke, ischemic 9.9
33 leukemia, acute myeloid 9.9
34 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 9.9
35 polyarteritis nodosa, childhood-onset 9.9
36 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 9.9
37 pulmonary hypertension 9.9
38 acute leukemia 9.9
39 crohn's disease 9.9
40 hematopoietic stem cell transplantation 9.9
41 mantle cell lymphoma 9.9
42 severe combined immunodeficiency 9.9
43 thrombophilia 9.9
44 combined t cell and b cell immunodeficiency 9.9
45 connective tissue disease 9.9
46 cerebrovascular disease 9.9
47 lymphosarcoma 9.9
48 myeloid leukemia 9.9
49 chronic thromboembolic pulmonary hypertension 9.9
50 gestational trophoblastic tumor 9.9

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:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lipoatrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100578
2 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
3 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
4 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
5 myopathy 60 33 frequent (33%) Frequent (79-30%) HP:0003198
6 autoimmunity 60 33 frequent (33%) Frequent (79-30%) HP:0002960
7 lymphocytosis 60 33 frequent (33%) Frequent (79-30%) HP:0100827
8 progeroid facial appearance 60 33 frequent (33%) Frequent (79-30%) HP:0005328
9 decreased serum complement c3 60 33 frequent (33%) Frequent (79-30%) HP:0005421
10 proteinuria 60 33 occasional (7.5%) Occasional (29-5%) HP:0000093
11 arthralgia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002829
12 immunodeficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0002721
13 generalized hirsutism 60 33 occasional (7.5%) Occasional (29-5%) HP:0002230
14 hepatic steatosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001397
15 glomerulopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0100820
16 insulin resistance 60 33 occasional (7.5%) Occasional (29-5%) HP:0000855
17 microscopic hematuria 60 33 occasional (7.5%) Occasional (29-5%) HP:0002907
18 diabetes mellitus 33 HP:0000819
19 nephrotic syndrome 33 HP:0000100
20 hematuria 33 HP:0000790
21 polycystic ovaries 33 HP:0000147
22 recurrent infections 33 HP:0002719
23 hirsutism 33 HP:0001007
24 membranoproliferative glomerulonephritis 33 HP:0000793
25 loss of truncal subcutaneous adipose tissue 33 HP:0009002
26 abnormal circulating lipid concentration 33 HP:0003119
27 progressive loss of facial adipose tissue 33 HP:0009019
28 loss of subcutaneous adipose tissue from upper limbs 33 HP:0009056

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Lipodystrophy, Partial, Acquired

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Insulin, Globin Zinc Phase 2, Phase 3
2 insulin Phase 2, Phase 3
3
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
4 Laxatives Phase 2
5 Cathartics Phase 2
6 Gastrointestinal Agents Phase 2

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Trial of Leptin Replacement Therapy in Patients With Lipodystrophy Completed NCT00896298 Phase 2, Phase 3 Leptin;Placebo
2 The BROADEN Study: A Study of Volanesorsen (Formerly ISIS-APOCIIIRx) in Patients With Familial Partial Lipodystrophy Active, not recruiting NCT02527343 Phase 2, Phase 3 volanesorsen;Placebo
3 Compassionate Use of Metreleptin in Previously Treated People With Partial Lipodystrophy Enrolling by invitation NCT02262806 Phase 3 Metreleptin
4 Study of Gemcabene in Adults With FPLD Recruiting NCT03508687 Phase 1, Phase 2 300mg Gemcabene;600mg Gemcabene
5 Phase 2 Study of Obeticholic Acid for Lipodystrophy Patients Recruiting NCT02430077 Phase 2 Obeticholic Acid;Placebo
6 Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With With Familial Partial Lipodystrophy (FPL) Active, not recruiting NCT03514420 Phase 2 AKCEA-ANGPTL3-LRX
7 CLINICAL PROTOCOL to Investigate the Long-term Safety and Efficacy of Metreleptin in Various Forms of Partial Lipodystrophy Active, not recruiting NCT02654977 Phase 2 Metreleptin
8 Efficacy, Safety and Tolerability of ISIS 304801 in People With Partial Lipodystrophy With an Open-Label Extension Active, not recruiting NCT02639286 Phase 2 ISIS 304801;Placebo
9 Expanded Access Metreleptin Study Active, not recruiting NCT02404896 Phase 2 Metreleptin
10 Identification of a New Gene Involved in Hereditary Lipodystrophy Completed NCT02056912 Not Applicable
11 Lipodystrophy Connect Patient Registry Recruiting NCT02577952
12 Familial Partial Lipodystrophy Study Active, not recruiting NCT02858830 Not Applicable
13 Low Energy Diet and Familial Partial Lipodystrophy Not yet recruiting NCT03900286 Not Applicable
14 Setemelanotide in a Single Patient With Partial Lipodystrophy No longer available NCT03262610 Setmelanotide

Search 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 30 LMNB2

Anatomical Context for Lipodystrophy, Partial, Acquired

MalaCards organs/tissues related to Lipodystrophy, Partial, Acquired:

42
Ovary, Skin, Bone, Bone Marrow, Adipocyte

Publications for Lipodystrophy, Partial, Acquired

Articles related to Lipodystrophy, Partial, Acquired:

(show all 32)
# Title Authors Year
1
Acquired Partial Lipodystrophy Associated with Anti-Mi-2 Antibody-positive Adult-onset Dermatomyositis. ( 30182133 )
2019
2
Acquired partial lipodystrophy treated with poly-L-lactic acid and hyaluronic acid fillers: a case report. ( 30118355 )
2018
3
A subset of patients with acquired partial lipodystrophy developing severe metabolic abnormalities. ( 30182761 )
2018
4
Abnormal lipid storage related to adipocyte shrinkage in acquired partial lipodystrophy (Barraquer-Simons syndrome). ( 30472754 )
2018
5
Acquired partial lipodystrophy and C3 glomerulopathy: Dysregulation of the complement system as a common pathogenic mechanism. ( 29279276 )
2017
6
Crescentic C3 glomerulopathy with acquired partial lipodystrophy: An unusual cause of rapidly progressive renal failure. ( 28631660 )
2017
7
Acquired partial lipodystrophy after bone marrow transplant during childhood: a novel syndrome to be added to the disease classification list. ( 28721522 )
2017
8
Temporary resolution of insulin requirement in acquired partial lipodystrophy associated with chronic graft-versus-host disease. ( 28371314 )
2017
9
Bleomycin Containing Chemotherapeutic Regimen Induced Acquired Partial Lipodystrophy. ( 26955139 )
2016
10
Acquired partial lipodystrophy (Barraquer-Simons syndrome) and IgA nephropathy. ( 27255909 )
2016
11
Retinal changes in a patient with acquired partial lipodystrophy (Laignel-Lavastine and Viard Syndrome). ( 25688597 )
2015
12
Adult-onset acquired partial lipodystrophy accompanied by rheumatoid arthritis. ( 26034476 )
2015
13
Acquired partial lipodystrophy is associated with increased risk for developing metabolic abnormalities. ( 26139569 )
2015
14
A rare case of acquired partial lipodystrophy (Barraquer-Simons syndrome) with localized scleroderma. ( 23675994 )
2014
15
Long-term fundus changes in acquired partial lipodystrophy. ( 24248317 )
2013
16
Abnormal adipose tissue distribution with unfavorable metabolic profile in five children following hematopoietic stem cell transplantation: a new etiology for acquired partial lipodystrophy. ( 24170962 )
2013
17
Choroidal neovascularization in acquired partial lipodystrophy. ( 23483505 )
2013
18
A Chinese patient with acquired partial lipodystrophy caused by a novel mutation with LMNB2 gene. ( 22768673 )
2012
19
Recurrent stroke as a presenting feature of acquired partial lipodystrophy. ( 23565465 )
2012
20
Acquired partial lipodystrophy with C3 hypocomplementemia and antiphospholipid and anticardiolipin antibodies. ( 20807366 )
2010
21
Acquired partial lipodystrophy associated with varicella. ( 20196400 )
2009
22
Acquired partial lipodystrophy in an 11-year-old girl. ( 19261130 )
2008
23
Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report. ( 18752661 )
2008
24
Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. ( 16826530 )
2006
25
Ocular complications in acquired partial lipodystrophy. ( 17099101 )
2006
26
Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature. ( 14747765 )
2004
27
A case of acquired partial lipodystrophy associated with POEMS syndrome. ( 12626805 )
2003
28
Improvement of acquired partial lipodystrophy with rosiglitazone despite ongoing complement activation. ( 12595651 )
2003
29
Retinal alterations in acquired partial lipodystrophy: a case report. ( 11831931 )
2002
30
[Acquired partial lipodystrophy. Insulin resistance, hepatic lipase activity and small and dense LDL particles]. ( 11265632 )
2001
31
A case of acquired partial lipodystrophy associated with localized scleroderma and undifferentiated connective tissue disease. ( 10651089 )
1999
32
Myopathy in acquired partial lipodystrophy. ( 7656496 )
1995

Variations for Lipodystrophy, Partial, Acquired

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

76
# Symbol AA change Variation ID SNP ID
1 LMNB2 p.Ala427Thr VAR_031064 rs57521499
2 LMNB2 p.Tyr252His VAR_074171

ClinVar genetic disease variations for Lipodystrophy, Partial, Acquired:

6 (show top 50) (show all 123)
# Gene Variation Type Significance SNP ID Assembly Location
1 LMNB2 LMNB2, TYR232HIS single nucleotide variant risk factor
2 LMNB2 NM_032737.3(LMNB2): c.704G> A (p.Arg235Gln) single nucleotide variant Benign rs121912497 GRCh37 Chromosome 19, 2435150: 2435150
3 LMNB2 NM_032737.3(LMNB2): c.704G> A (p.Arg235Gln) single nucleotide variant Benign rs121912497 GRCh38 Chromosome 19, 2435152: 2435152
4 LMNB2 NM_032737.3(LMNB2): c.1279G> A (p.Ala427Thr) single nucleotide variant risk factor rs57521499 GRCh37 Chromosome 19, 2434027: 2434027
5 LMNB2 NM_032737.3(LMNB2): c.1279G> A (p.Ala427Thr) single nucleotide variant risk factor rs57521499 GRCh38 Chromosome 19, 2434029: 2434029
6 LMNB2 NM_032737.3(LMNB2): c.265-6C> T single nucleotide variant risk factor rs267607650 GRCh37 Chromosome 19, 2444544: 2444544
7 LMNB2 NM_032737.3(LMNB2): c.265-6C> T single nucleotide variant risk factor rs267607650 GRCh38 Chromosome 19, 2444546: 2444546
8 LMNB2 NM_032737.3(LMNB2): c.1699G> A (p.Ala567Thr) single nucleotide variant Uncertain significance rs760189690 GRCh37 Chromosome 19, 2431792: 2431792
9 LMNB2 NM_032737.3(LMNB2): c.1699G> A (p.Ala567Thr) single nucleotide variant Uncertain significance rs760189690 GRCh38 Chromosome 19, 2431794: 2431794
10 LMNB2 NM_032737.3(LMNB2): c.804C> T (p.Asp268=) single nucleotide variant Benign/Likely benign rs150969746 GRCh37 Chromosome 19, 2435050: 2435050
11 LMNB2 NM_032737.3(LMNB2): c.804C> T (p.Asp268=) single nucleotide variant Benign/Likely benign rs150969746 GRCh38 Chromosome 19, 2435052: 2435052
12 LMNB2 NM_032737.3(LMNB2): c.402C> T (p.Ser134=) single nucleotide variant Conflicting interpretations of pathogenicity rs148213507 GRCh38 Chromosome 19, 2438531: 2438531
13 LMNB2 NM_032737.3(LMNB2): c.402C> T (p.Ser134=) single nucleotide variant Conflicting interpretations of pathogenicity rs148213507 GRCh37 Chromosome 19, 2438529: 2438529
14 LMNB2 NM_032737.3(LMNB2): c.856-8C> T single nucleotide variant Likely benign rs766316644 GRCh38 Chromosome 19, 2434921: 2434921
15 LMNB2 NM_032737.3(LMNB2): c.856-8C> T single nucleotide variant Likely benign rs766316644 GRCh37 Chromosome 19, 2434919: 2434919
16 LMNB2 NM_032737.3(LMNB2): c.1821+4G> A single nucleotide variant Uncertain significance rs779811801 GRCh38 Chromosome 19, 2431544: 2431544
17 LMNB2 NM_032737.3(LMNB2): c.1821+4G> A single nucleotide variant Uncertain significance rs779811801 GRCh37 Chromosome 19, 2431542: 2431542
18 LMNB2 NM_032737.3(LMNB2): c.1707C> T (p.Gly569=) single nucleotide variant Likely benign rs372581793 GRCh38 Chromosome 19, 2431786: 2431786
19 LMNB2 NM_032737.3(LMNB2): c.1707C> T (p.Gly569=) single nucleotide variant Likely benign rs372581793 GRCh37 Chromosome 19, 2431784: 2431784
20 LMNB2 NM_032737.3(LMNB2): c.1698C> T (p.Asn566=) single nucleotide variant Likely benign rs147619532 GRCh38 Chromosome 19, 2431795: 2431795
21 LMNB2 NM_032737.3(LMNB2): c.1698C> T (p.Asn566=) single nucleotide variant Likely benign rs147619532 GRCh37 Chromosome 19, 2431793: 2431793
22 LMNB2 NM_032737.3(LMNB2): c.815G> A (p.Arg272Gln) single nucleotide variant Likely benign rs142557433 GRCh38 Chromosome 19, 2435041: 2435041
23 LMNB2 NM_032737.3(LMNB2): c.815G> A (p.Arg272Gln) single nucleotide variant Likely benign rs142557433 GRCh37 Chromosome 19, 2435039: 2435039
24 LMNB2 NM_032737.3(LMNB2): c.443G> A (p.Arg148His) single nucleotide variant Uncertain significance rs779429811 GRCh38 Chromosome 19, 2438490: 2438490
25 LMNB2 NM_032737.3(LMNB2): c.443G> A (p.Arg148His) single nucleotide variant Uncertain significance rs779429811 GRCh37 Chromosome 19, 2438488: 2438488
26 LMNB2 NM_032737.3(LMNB2): c.347G> A (p.Arg116Gln) single nucleotide variant Uncertain significance rs370820384 GRCh38 Chromosome 19, 2444458: 2444458
27 LMNB2 NM_032737.3(LMNB2): c.347G> A (p.Arg116Gln) single nucleotide variant Uncertain significance rs370820384 GRCh37 Chromosome 19, 2444456: 2444456
28 LMNB2 NM_032737.3(LMNB2): c.1575C> T (p.Ala525=) single nucleotide variant Likely benign rs140216957 GRCh38 Chromosome 19, 2432431: 2432431
29 LMNB2 NM_032737.3(LMNB2): c.1575C> T (p.Ala525=) single nucleotide variant Likely benign rs140216957 GRCh37 Chromosome 19, 2432429: 2432429
30 LMNB2 NM_032737.3(LMNB2): c.1344C> T (p.Gly448=) single nucleotide variant Likely benign rs144665669 GRCh38 Chromosome 19, 2433964: 2433964
31 LMNB2 NM_032737.3(LMNB2): c.1344C> T (p.Gly448=) single nucleotide variant Likely benign rs144665669 GRCh37 Chromosome 19, 2433962: 2433962
32 LMNB2 NM_032737.3(LMNB2): c.1332C> T (p.Pro444=) single nucleotide variant Likely benign rs998616364 GRCh38 Chromosome 19, 2433976: 2433976
33 LMNB2 NM_032737.3(LMNB2): c.1332C> T (p.Pro444=) single nucleotide variant Likely benign rs998616364 GRCh37 Chromosome 19, 2433974: 2433974
34 LMNB2 NM_032737.3(LMNB2): c.1221C> A (p.Ser407Arg) single nucleotide variant Uncertain significance rs766553520 GRCh38 Chromosome 19, 2434087: 2434087
35 LMNB2 NM_032737.3(LMNB2): c.1221C> A (p.Ser407Arg) single nucleotide variant Uncertain significance rs766553520 GRCh37 Chromosome 19, 2434085: 2434085
36 LMNB2 NM_032737.3(LMNB2): c.558+5G> A single nucleotide variant Uncertain significance rs747264492 GRCh37 Chromosome 19, 2438368: 2438368
37 LMNB2 NM_032737.3(LMNB2): c.558+5G> A single nucleotide variant Uncertain significance rs747264492 GRCh38 Chromosome 19, 2438370: 2438370
38 LMNB2 NM_032737.3(LMNB2): c.440G> A (p.Gly147Asp) single nucleotide variant Uncertain significance rs768416033 GRCh37 Chromosome 19, 2438491: 2438491
39 LMNB2 NM_032737.3(LMNB2): c.440G> A (p.Gly147Asp) single nucleotide variant Uncertain significance rs768416033 GRCh38 Chromosome 19, 2438493: 2438493
40 LMNB2 NM_032737.3(LMNB2): c.428C> T (p.Thr143Met) single nucleotide variant Uncertain significance rs375961613 GRCh38 Chromosome 19, 2438505: 2438505
41 LMNB2 NM_032737.3(LMNB2): c.428C> T (p.Thr143Met) single nucleotide variant Uncertain significance rs375961613 GRCh37 Chromosome 19, 2438503: 2438503
42 LMNB2 NM_032737.3(LMNB2): c.1554G> C (p.Thr518=) single nucleotide variant Benign rs11882908 GRCh38 Chromosome 19, 2432452: 2432452
43 LMNB2 NM_032737.3(LMNB2): c.1554G> C (p.Thr518=) single nucleotide variant Benign rs11882908 GRCh37 Chromosome 19, 2432450: 2432450
44 LMNB2 NM_032737.3(LMNB2): c.1403C> G (p.Ala468Gly) single nucleotide variant Uncertain significance rs766297775 GRCh38 Chromosome 19, 2433905: 2433905
45 LMNB2 NM_032737.3(LMNB2): c.1403C> G (p.Ala468Gly) single nucleotide variant Uncertain significance rs766297775 GRCh37 Chromosome 19, 2433903: 2433903
46 LMNB2 NM_032737.3(LMNB2): c.1363G> C (p.Gly455Arg) single nucleotide variant Likely benign rs772769360 GRCh38 Chromosome 19, 2433945: 2433945
47 LMNB2 NM_032737.3(LMNB2): c.1363G> C (p.Gly455Arg) single nucleotide variant Likely benign rs772769360 GRCh37 Chromosome 19, 2433943: 2433943
48 LMNB2 NM_032737.3(LMNB2): c.1256C> G (p.Ser419Trp) single nucleotide variant Uncertain significance rs368949581 GRCh38 Chromosome 19, 2434052: 2434052
49 LMNB2 NM_032737.3(LMNB2): c.1256C> G (p.Ser419Trp) single nucleotide variant Uncertain significance rs368949581 GRCh37 Chromosome 19, 2434050: 2434050
50 LMNB2 NM_032737.3(LMNB2): c.1822-12_1822-5dup duplication Uncertain significance rs542821471 GRCh38 Chromosome 19, 2430957: 2430964

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

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