MCID: LPD019
MIFTS: 43

Lipodystrophy, Partial, Acquired

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

Aliases & Classifications for Lipodystrophy, Partial, Acquired

MalaCards integrated aliases for Lipodystrophy, Partial, Acquired:

Name: Lipodystrophy, Partial, Acquired 57 40
Acquired Partial Lipodystrophy 59 29 6 73
Barraquer-Simons Syndrome 57 53 59 75
Lipodystrophy, Partial, Acquired, Susceptibility to 57 13 6
Apld 57 75
Apl 53 75
Progressive Cephalothoracic Lipodystrophy 59
Lipodystrophy, Cephalothoracic Type 57
Lipodystrophy, Partial, Progressive 57
Lipodystrophy Cephalothoracic Type 53
Cephalothoracic Type Lipodystrophy 75
Partial Progressive Lipodystrophy 75
Lipodystophy Partial Progressive 53
Lipodystrophy Partial Acquired 53
Partial Acquired Lipodystrophy 75
Apld, Susceptibility to 57

Characteristics:

Orphanet epidemiological data:

59
acquired partial lipodystrophy
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

OMIM:

57
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:

32
lipodystrophy, partial, acquired:
Onset and clinical course phenotypic variability juvenile onset
Inheritance autosomal dominant inheritance sporadic


Classifications:



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)

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 and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include kidney, ovary and skin, and related phenotypes are intellectual disability and seizures

NIH Rare Diseases : 53 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 : 75 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 Partial Lipodystrophy family:

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

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis 12.3
2 acute promyelocytic leukemia 12.1
3 antiphospholipid syndrome 11.3
4 atrichia with papular lesions 11.2
5 leukemia 10.5
6 partial lipodystrophy 10.4
7 extrinsic allergic alveolitis 10.2
8 localized scleroderma 10.2
9 systemic lupus erythematosus 10.1
10 lupus erythematosus 10.1
11 achondroplasia 9.9
12 thrombosis 9.9
13 neuronitis 9.9
14 phosphatase, acid, of tissues 9.8
15 acid phosphatase deficiency 9.8
16 intracranial hypertension, idiopathic 9.8
17 combined immunodeficiency, x-linked 9.8
18 stroke, ischemic 9.8
19 crohn's disease 9.8
20 hematopoietic stem cell transplantation 9.8
21 severe combined immunodeficiency 9.8
22 thrombophilia 9.8
23 cerebritis 9.8
24 cerebrovascular disease 9.8
25 depression 9.8
26 epilepsy, progressive myoclonic, 9 9.0 LMNB2 MIR7108

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



Diseases related to Lipodystrophy, Partial, Acquired

Symptoms & Phenotypes for Lipodystrophy, Partial, Acquired

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Lipodystrophy, Partial, Acquired:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
4 proteinuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000093
5 myopathy 59 32 frequent (33%) Frequent (79-30%) HP:0003198
6 arthralgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002829
7 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
8 immunodeficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002721
9 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
10 hepatic steatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001397
11 autoimmunity 59 32 frequent (33%) Frequent (79-30%) HP:0002960
12 glomerulopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100820
13 insulin resistance 59 32 occasional (7.5%) Occasional (29-5%) HP:0000855
14 lymphocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0100827
15 progeroid facial appearance 59 32 frequent (33%) Frequent (79-30%) HP:0005328
16 microscopic hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0002907
17 decreased serum complement c3 59 32 frequent (33%) Frequent (79-30%) HP:0005421
18 diabetes mellitus 32 HP:0000819
19 nephrotic syndrome 32 HP:0000100
20 hematuria 32 HP:0000790
21 abnormality of lipid metabolism 32 HP:0003119
22 polycystic ovaries 32 HP:0000147
23 recurrent infections 32 HP:0002719
24 hirsutism 32 HP:0001007
25 membranoproliferative glomerulonephritis 32 HP:0000793
26 loss of truncal subcutaneous adipose tissue 32 HP:0009002
27 progressive loss of facial adipose tissue 32 HP:0009019
28 loss of subcutaneous adipose tissue from upper limbs 32 HP:0009056

Drugs & Therapeutics for Lipodystrophy, Partial, Acquired

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 insulin Phase 2, Phase 3
2 Insulin, Globin Zinc Phase 2, Phase 3
3
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
4 Cathartics Phase 2
5 Gastrointestinal Agents Phase 2
6 Laxatives Phase 2
7
Menthol Approved Not Applicable 2216-51-5 16666

Interventional clinical trials:

(show all 13)
# 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 AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With With Familial Partial Lipodystrophy (FPL) Recruiting NCT03514420 Phase 2 AKCEA-ANGPTL3-LRX
5 Efficacy, Safety and Tolerability of ISIS 304801 in People With Partial Lipodystrophy With an Open-Label Extension Recruiting NCT02639286 Phase 2 ISIS 304801;Placebo
6 Study of Gemcabene in Adults With FPLD Recruiting NCT03508687 Phase 1, Phase 2 300mg Gemcabene;600mg Gemcabene
7 Phase 2 Study of Obeticholic Acid for Lipodystrophy Patients Recruiting NCT02430077 Phase 2 Obeticholic Acid;Placebo
8 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
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 Recruiting NCT02858830 Not Applicable
13 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 29 LMNB2

Anatomical Context for Lipodystrophy, Partial, Acquired

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

41
Kidney, Ovary, Skin, Bone, Bone Marrow

Publications for Lipodystrophy, Partial, Acquired

Articles related to Lipodystrophy, Partial, Acquired:

(show all 21)
# Title Authors Year
1
Acquired partial lipodystrophy and C3 glomerulopathy: Dysregulation of the complement system as a common pathogenic mechanism. ( 29279276 )
2017
2
Crescentic C3 glomerulopathy with acquired partial lipodystrophy: An unusual cause of rapidly progressive renal failure. ( 28631660 )
2017
3
Acquired partial lipodystrophy after bone marrow transplant during childhood: a novel syndrome to be added to the disease classification list. ( 28721522 )
2017
4
Temporary resolution of insulin requirement in acquired partial lipodystrophy associated with chronic graft-versus-host disease. ( 28371314 )
2017
5
Bleomycin Containing Chemotherapeutic Regimen Induced Acquired Partial Lipodystrophy. ( 26955139 )
2016
6
Retinal changes in a patient with acquired partial lipodystrophy (Laignel-Lavastine and Viard Syndrome). ( 25688597 )
2015
7
A rare case of acquired partial lipodystrophy (Barraquer-Simons syndrome) with localized scleroderma. ( 23675994 )
2014
8
Long-term fundus changes in acquired partial lipodystrophy. ( 24248317 )
2013
9
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
10
Choroidal neovascularization in acquired partial lipodystrophy. ( 23483505 )
2013
11
A Chinese patient with acquired partial lipodystrophy caused by a novel mutation with LMNB2 gene. ( 22768673 )
2012
12
Recurrent stroke as a presenting feature of acquired partial lipodystrophy. ( 23565465 )
2012
13
Acquired partial lipodystrophy with C3 hypocomplementemia and antiphospholipid and anticardiolipin antibodies. ( 20807366 )
2010
14
Acquired partial lipodystrophy associated with varicella. ( 20196400 )
2009
15
Acquired partial lipodystrophy in an 11-year-old girl. ( 19261130 )
2008
16
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
17
Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. ( 16826530 )
2006
18
Ocular complications in acquired partial lipodystrophy. ( 17099101 )
2006
19
A case of acquired partial lipodystrophy associated with POEMS syndrome. ( 12626805 )
2003
20
[Acquired partial lipodystrophy. Insulin resistance, hepatic lipase activity and small and dense LDL particles]. ( 11265632 )
2001
21
A case of acquired partial lipodystrophy associated with localized scleroderma and undifferentiated connective tissue disease. ( 10651089 )
1999

Variations for Lipodystrophy, Partial, Acquired

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

75
# 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 87)
# Gene Variation Type Significance SNP ID Assembly Location
1 LMNB2 NM_032737.3(LMNB2): c.1279G> A (p.Ala427Thr) single nucleotide variant risk factor rs57521499 GRCh37 Chromosome 19, 2434027: 2434027
2 LMNB2 NM_032737.3(LMNB2): c.1279G> A (p.Ala427Thr) single nucleotide variant risk factor rs57521499 GRCh38 Chromosome 19, 2434029: 2434029
3 LMNB2 NM_032737.3(LMNB2): c.265-6C> T single nucleotide variant risk factor rs267607650 GRCh37 Chromosome 19, 2444544: 2444544
4 LMNB2 NM_032737.3(LMNB2): c.265-6C> T single nucleotide variant risk factor rs267607650 GRCh38 Chromosome 19, 2444546: 2444546
5 LMNB2 LMNB2, TYR232HIS single nucleotide variant risk factor
6 LMNB2 NM_032737.3(LMNB2): c.804C> T (p.Asp268=) single nucleotide variant Benign/Likely benign rs150969746 GRCh38 Chromosome 19, 2435052: 2435052
7 LMNB2 NM_032737.3(LMNB2): c.804C> T (p.Asp268=) single nucleotide variant Benign/Likely benign rs150969746 GRCh37 Chromosome 19, 2435050: 2435050
8 LMNB2 NM_032737.3(LMNB2): c.402C> T (p.Ser134=) single nucleotide variant Conflicting interpretations of pathogenicity rs148213507 GRCh38 Chromosome 19, 2438531: 2438531
9 LMNB2 NM_032737.3(LMNB2): c.402C> T (p.Ser134=) single nucleotide variant Conflicting interpretations of pathogenicity rs148213507 GRCh37 Chromosome 19, 2438529: 2438529
10 LMNB2 NM_032737.3(LMNB2): c.856-8C> T single nucleotide variant Likely benign rs766316644 GRCh37 Chromosome 19, 2434919: 2434919
11 LMNB2 NM_032737.3(LMNB2): c.856-8C> T single nucleotide variant Likely benign rs766316644 GRCh38 Chromosome 19, 2434921: 2434921
12 LMNB2 NM_032737.3(LMNB2): c.1821+4G> A single nucleotide variant Uncertain significance rs779811801 GRCh38 Chromosome 19, 2431544: 2431544
13 LMNB2 NM_032737.3(LMNB2): c.1821+4G> A single nucleotide variant Uncertain significance rs779811801 GRCh37 Chromosome 19, 2431542: 2431542
14 LMNB2 NM_032737.3(LMNB2): c.1707C> T (p.Gly569=) single nucleotide variant Likely benign rs372581793 GRCh38 Chromosome 19, 2431786: 2431786
15 LMNB2 NM_032737.3(LMNB2): c.1707C> T (p.Gly569=) single nucleotide variant Likely benign rs372581793 GRCh37 Chromosome 19, 2431784: 2431784
16 LMNB2 NM_032737.3(LMNB2): c.1698C> T (p.Asn566=) single nucleotide variant Likely benign rs147619532 GRCh38 Chromosome 19, 2431795: 2431795
17 LMNB2 NM_032737.3(LMNB2): c.1698C> T (p.Asn566=) single nucleotide variant Likely benign rs147619532 GRCh37 Chromosome 19, 2431793: 2431793
18 LMNB2 NM_032737.3(LMNB2): c.815G> A (p.Arg272Gln) single nucleotide variant Likely benign rs142557433 GRCh38 Chromosome 19, 2435041: 2435041
19 LMNB2 NM_032737.3(LMNB2): c.815G> A (p.Arg272Gln) single nucleotide variant Likely benign rs142557433 GRCh37 Chromosome 19, 2435039: 2435039
20 LMNB2 NM_032737.3(LMNB2): c.443G> A (p.Arg148His) single nucleotide variant Uncertain significance rs779429811 GRCh38 Chromosome 19, 2438490: 2438490
21 LMNB2 NM_032737.3(LMNB2): c.443G> A (p.Arg148His) single nucleotide variant Uncertain significance rs779429811 GRCh37 Chromosome 19, 2438488: 2438488
22 LMNB2 NM_032737.3(LMNB2): c.347G> A (p.Arg116Gln) single nucleotide variant Uncertain significance rs370820384 GRCh38 Chromosome 19, 2444458: 2444458
23 LMNB2 NM_032737.3(LMNB2): c.347G> A (p.Arg116Gln) single nucleotide variant Uncertain significance rs370820384 GRCh37 Chromosome 19, 2444456: 2444456
24 LMNB2 NM_032737.3(LMNB2): c.1575C> T (p.Ala525=) single nucleotide variant Likely benign rs140216957 GRCh38 Chromosome 19, 2432431: 2432431
25 LMNB2 NM_032737.3(LMNB2): c.1575C> T (p.Ala525=) single nucleotide variant Likely benign rs140216957 GRCh37 Chromosome 19, 2432429: 2432429
26 LMNB2 NM_032737.3(LMNB2): c.1344C> T (p.Gly448=) single nucleotide variant Likely benign rs144665669 GRCh38 Chromosome 19, 2433964: 2433964
27 LMNB2 NM_032737.3(LMNB2): c.1344C> T (p.Gly448=) single nucleotide variant Likely benign rs144665669 GRCh37 Chromosome 19, 2433962: 2433962
28 LMNB2 NM_032737.3(LMNB2): c.1332C> T (p.Pro444=) single nucleotide variant Likely benign rs998616364 GRCh38 Chromosome 19, 2433976: 2433976
29 LMNB2 NM_032737.3(LMNB2): c.1332C> T (p.Pro444=) single nucleotide variant Likely benign rs998616364 GRCh37 Chromosome 19, 2433974: 2433974
30 LMNB2 NM_032737.3(LMNB2): c.1221C> A (p.Ser407Arg) single nucleotide variant Uncertain significance rs766553520 GRCh38 Chromosome 19, 2434087: 2434087
31 LMNB2 NM_032737.3(LMNB2): c.1221C> A (p.Ser407Arg) single nucleotide variant Uncertain significance rs766553520 GRCh37 Chromosome 19, 2434085: 2434085
32 LMNB2 NM_032737.3(LMNB2): c.558+5G> A single nucleotide variant Uncertain significance rs747264492 GRCh37 Chromosome 19, 2438368: 2438368
33 LMNB2 NM_032737.3(LMNB2): c.558+5G> A single nucleotide variant Uncertain significance rs747264492 GRCh38 Chromosome 19, 2438370: 2438370
34 LMNB2 NM_032737.3(LMNB2): c.440G> A (p.Gly147Asp) single nucleotide variant Uncertain significance rs768416033 GRCh37 Chromosome 19, 2438491: 2438491
35 LMNB2 NM_032737.3(LMNB2): c.440G> A (p.Gly147Asp) single nucleotide variant Uncertain significance rs768416033 GRCh38 Chromosome 19, 2438493: 2438493
36 LMNB2 NM_032737.3(LMNB2): c.428C> T (p.Thr143Met) single nucleotide variant Uncertain significance rs375961613 GRCh38 Chromosome 19, 2438505: 2438505
37 LMNB2 NM_032737.3(LMNB2): c.428C> T (p.Thr143Met) single nucleotide variant Uncertain significance rs375961613 GRCh37 Chromosome 19, 2438503: 2438503
38 LMNB2 NM_032737.3(LMNB2): c.1554G> C (p.Thr518=) single nucleotide variant Benign rs11882908 GRCh38 Chromosome 19, 2432452: 2432452
39 LMNB2 NM_032737.3(LMNB2): c.1554G> C (p.Thr518=) single nucleotide variant Benign rs11882908 GRCh37 Chromosome 19, 2432450: 2432450
40 LMNB2 NM_032737.3(LMNB2): c.1403C> G (p.Ala468Gly) single nucleotide variant Uncertain significance rs766297775 GRCh38 Chromosome 19, 2433905: 2433905
41 LMNB2 NM_032737.3(LMNB2): c.1403C> G (p.Ala468Gly) single nucleotide variant Uncertain significance rs766297775 GRCh37 Chromosome 19, 2433903: 2433903
42 LMNB2 NM_032737.3(LMNB2): c.1363G> C (p.Gly455Arg) single nucleotide variant Likely benign rs772769360 GRCh38 Chromosome 19, 2433945: 2433945
43 LMNB2 NM_032737.3(LMNB2): c.1363G> C (p.Gly455Arg) single nucleotide variant Likely benign rs772769360 GRCh37 Chromosome 19, 2433943: 2433943
44 LMNB2 NM_032737.3(LMNB2): c.1256C> G (p.Ser419Trp) single nucleotide variant Uncertain significance rs368949581 GRCh38 Chromosome 19, 2434052: 2434052
45 LMNB2 NM_032737.3(LMNB2): c.1256C> G (p.Ser419Trp) single nucleotide variant Uncertain significance rs368949581 GRCh37 Chromosome 19, 2434050: 2434050
46 LMNB2 NM_032737.3(LMNB2): c.1822-12_1822-5dup duplication Uncertain significance GRCh37 Chromosome 19, 2430955: 2430962
47 LMNB2 NM_032737.3(LMNB2): c.1822-12_1822-5dup duplication Uncertain significance GRCh38 Chromosome 19, 2430957: 2430964
48 LMNB2 NM_032737.3(LMNB2): c.1682G> T (p.Arg561Leu) single nucleotide variant Uncertain significance rs145444042 GRCh38 Chromosome 19, 2431811: 2431811
49 LMNB2 NM_032737.3(LMNB2): c.1682G> T (p.Arg561Leu) single nucleotide variant Uncertain significance rs145444042 GRCh37 Chromosome 19, 2431809: 2431809
50 LMNB2 NM_032737.3(LMNB2): c.982-4G> A single nucleotide variant Likely benign rs370025312 GRCh38 Chromosome 19, 2434519: 2434519

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....