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MCID: LMN011
MIFTS: 34

Laminopathy

Categories: Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Laminopathy

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MalaCards integrated aliases for Laminopathy:

Name: Laminopathy 58 6

Classifications:

MalaCards categories:
Global: Rare diseases
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Orphanet 58 ORPHA98301
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Summaries for Laminopathy

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MalaCards based summary : Laminopathy is related to restrictive dermopathy, lethal and reynolds syndrome. An important gene associated with Laminopathy is LMNA (Lamin A/C), and among its related pathways/superpathways are Cell Cycle, Mitotic and Meiosis. The drugs Lonafarnib and Pravastatin have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, retina and adipocyte, and related phenotypes are cellular and mortality/aging

Wikipedia : 74 Laminopathies (lamino- + -opathy) are a group of rare genetic disorders caused by mutations in genes... more...

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Related Diseases for Laminopathy

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Diseases related to Laminopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 restrictive dermopathy, lethal 31.9 ZMPSTE24 LMNA
2 reynolds syndrome 31.5 ZMPSTE24 SUN2 LMNA
3 pelger-huet anomaly 31.2 SYNE2 SUN1 LMNA EMD
4 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.7 ZMPSTE24 LMNA
5 mandibuloacral dysplasia with type a lipodystrophy 30.5 ZMPSTE24 LMNA
6 acroosteolysis 30.2 ZMPSTE24 LMNA
7 emerinopathy 30.2 SUN2 LMNA EMD
8 muscular dystrophy 30.0 SYNE2 SUN2 SUN1 LMNA EMD
9 emery-dreifuss muscular dystrophy 29.8 ZMPSTE24 SYNE2 SUN2 SUN1 LMNA EMD
10 atrial standstill 1 29.8 SCN5A LMNA EMD
11 x-linked emery-dreifuss muscular dystrophy 29.8 SYNE2 LMNA EMD
12 cardiac conduction defect 29.7 SCN5A LMNA
13 hutchinson-gilford progeria syndrome 29.5 ZMPSTE24 XPA SYNE2 SUN2 SUN1 LMNA
14 lipodystrophy, familial partial, type 2 29.5 ZMPSTE24 LMNA
15 dilated cardiomyopathy 29.5 SYNE2 SUN2 SCN5A LMNA EMD
16 emery-dreifuss muscular dystrophy 2, autosomal dominant 29.4 ZMPSTE24 SYNE2 SUN2 SUN1 LMNA EMD
17 emery-dreifuss muscular dystrophy 1, x-linked 29.3 ZMPSTE24 SYNE2 SUN2 SUN1 LMNA EMD
18 arrhythmogenic right ventricular cardiomyopathy 29.2 SCN5A LMNA EMD
19 autosomal semi-dominant severe lipodystrophic laminopathy 10.9
20 laminopathy with striated muscle involvement 10.9
21 laminopathy with lipodystrophy 10.9
22 laminopathy with peripheral neuropathy 10.9
23 laminopathy with premature aging 10.9
24 mandibuloacral dysplasia progeroid syndrome 10.9
25 premature aging 10.2
26 acquired generalized lipodystrophy 10.2 ZMPSTE24 LMNA
27 complete generalized lipodystrophy 10.2 ZMPSTE24 LMNA
28 myopathy 10.1
29 autosomal dominant limb-girdle muscular dystrophy 10.1 LMNA EMD
30 familial partial lipodystrophy 10.1
31 lipodystrophy, familial partial, type 5 10.1 ZMPSTE24 LMNA EMD
32 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.1 ZMPSTE24 LMNA EMD
33 skin atrophy 10.1 ZMPSTE24 LMNA
34 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.0 ZMPSTE24 SYNE2 LMNA
35 osteopoikilosis 10.0 SYNE2 LMNA EMD
36 buschke-ollendorff syndrome 10.0 SYNE2 LMNA EMD
37 left bundle branch hemiblock 10.0 SCN5A LMNA
38 werner syndrome 10.0
39 adrenomyodystrophy 10.0
40 limb-girdle muscular dystrophy 10.0
41 progeroid syndrome 10.0
42 brugada syndrome 5 10.0 SCN5A LMNA
43 mandibuloacral dysplasia with type b lipodystrophy 9.9
44 charcot-marie-tooth disease 9.9
45 tooth disease 9.9
46 axonal neuropathy 9.9
47 atypical werner syndrome 9.9
48 first-degree atrioventricular block 9.9 SCN5A LMNA EMD
49 cardiomyopathy, dilated, 1b 9.9 SCN5A LMNA EMD
50 myopathy, x-linked, with postural muscle atrophy 9.9 SYNE2 SUN2 LMNA EMD

Graphical network of the top 20 diseases related to Laminopathy:



Diseases related to Laminopathy
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Symptoms & Phenotypes for Laminopathy

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MGI Mouse Phenotypes related to Laminopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.76 EMD LMNA NUP98 SUN1 SUN2 SYNE2
2 mortality/aging MP:0010768 9.65 CBX1 LMNA NUP98 PCNA SCN5A SUN1
3 muscle MP:0005369 9.23 EMD LMNA SCN5A SUN1 SUN2 SYNE2
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Drugs & Therapeutics for Laminopathy

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Drugs for Laminopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lonafarnib Approved, Investigational Phase 2 193275-84-2 148195
2
Pravastatin Approved Phase 2 81093-37-0 54687
3
Zoledronic Acid Approved Phase 2 118072-93-8 68740
4 Pharmaceutical Solutions Phase 2
5 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
6 Antimetabolites Phase 2
7 Lipid Regulating Agents Phase 2
8 Hypolipidemic Agents Phase 2
9 Anticholesteremic Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study of ARRY-371797 in Patients With LMNA-Related Dilated Cardiomyopathy Completed NCT02057341 Phase 2 ARRY-371797, p38 inhibitor; oral
2 An Open Label Dose Adjusted Phase II Trial of the Oral Farnesyltransferase Inhibitor (FTI) Lonafarnib (SCH66336) for Patients With Hutchinson-Gilford Progeria Syndrome (HGPS) and Progeroid Laminopathies Completed NCT00425607 Phase 2 Lonafarnib
3 A Phase II Pilot Study of Zoledronic Acid, Pravastatin, and Lonafarnib (SCH66336) for Patients With Hutchinson-Gilford Progeria Syndrome (HGPS) and Progeroid Laminopathies Completed NCT00879034 Phase 2 Lonafarnib;Zoledronic Acid;Pravastatin
4 An Open-label Rollover Study of ARRY-371797 in Patients With Symptomatic Genetic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation Active, not recruiting NCT02351856 Phase 2 ARRY-371797, p38 inhibitor, oral
5 An Open Label Phase II Trial of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With Hutchinson-Gilford Progeria Syndrome(HGPS) and Progeroid Laminopathies Enrolling by invitation NCT00916747 Phase 2 Lonafarnib, Zoledronic Acid, and Pravastatin
6 Identification of Predictors of Cardiac Arrhythmias and Sudden Death in Pediatric Patients Affected With Laminopathies Unknown status NCT02601066
7 Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies) Recruiting NCT03058185
8 A Treatment IND (Investigational New Drug) Protocol for EAP (Expanded Access Program) for the Use of Lonafarnib in Patients With Hutchinson-Gilford Progeria Syndrome (HGPS) or Progeroid Laminopathy Available NCT03895528 Lonafarnib

Search NIH Clinical Center for Laminopathy

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Genetic Tests for Laminopathy

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Anatomical Context for Laminopathy

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MalaCards organs/tissues related to Laminopathy:

40
Skeletal Muscle, Retina, Adipocyte
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Publications for Laminopathy

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Articles related to Laminopathy:

(show top 50) (show all 203)
# Title Authors PMID Year
1
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy. 61
33033404 2021
2
Lamin B1 acetylation slows the G1 to S cell cycle transition through inhibition of DNA repair. 61
33533922 2021
3
Epigenetic reprogramming to prevent genetic cardiomyopathy. 61
33393498 2021
4
Targeting the histone demethylase LSD1 prevents cardiomyopathy in a mouse model of laminopathy. 61
33393499 2021
5
Cardiac Phenotype in Familial Partial Lipodystrophy. 61
33502018 2021
6
Hypopharyngeal Squamous Cell Carcinoma in Sisters with LMNA Associated Familial Partial Lipodystrophy: A Case Report and Review of the Literature. 61
32517491 2020
7
Nuclear lamin phosphorylation: an emerging role in gene regulation and pathogenesis of laminopathies. 61
33030403 2020
8
Decreased mechanotransduction prevents nuclear collapse in a Caenorhabditis elegans laminopathy. 61
33229589 2020
9
LMNA Missense Mutation Causes Nonsense-Mediated mRNA Decay and Severe Dilated Cardiomyopathy. 61
32818388 2020
10
Nuclear Membrane Rupture and Its Consequences. 61
32692592 2020
11
Lamin A-mediated nuclear lamina integrity is required for proper ciliogenesis. 61
32815283 2020
12
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology. 61
32917887 2020
13
Molecular and Mechanobiological Pathways Related to the Physiopathology of FPLD2. 61
32842478 2020
14
Left-ventricular innervation assessed by 123I-SPECT/CT is associated with cardiac events in inherited arrhythmia syndromes. 61
32201099 2020
15
Linking skeletal muscle aging with osteoporosis by lamin A/C deficiency. 61
32479501 2020
16
Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction. 61
32585971 2020
17
Consequences of Lmna Exon 4 Mutations in Myoblast Function. 61
32455813 2020
18
Loss of an H3K9me anchor rescues laminopathy-linked changes in nuclear organization and muscle function in an Emery-Dreifuss muscular dystrophy model. 61
32139421 2020
19
RNA Sequence Analyses throughout the Course of Mouse Cardiac Laminopathy Identify Differentially Expressed Genes for Cell Cycle Control and Mitochondrial Function. 61
32313136 2020
20
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent. 61
33250842 2020
21
Lysophosphatidic acid receptor LPA3 prevents oxidative stress and cellular senescence in Hutchinson-Gilford progeria syndrome. 61
31714004 2020
22
Case reports of a c.475G>T, p.E159* lamin A/C mutation with a family history of conduction disorder, dilated cardiomyopathy and sudden cardiac death. 61
31847799 2019
23
A new laminopathy caused by an Arg133/Leu mutation in lamin A/C and the effects thereof on adipocyte differentiation and the transcriptome. 61
31293201 2019
24
ERK1/2 Phosphorylation of FHOD Connects Signaling and Nuclear Positioning Alternations in Cardiac Laminopathy. 61
31794718 2019
25
Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onset. 61
31744510 2019
26
Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering. 61
31814616 2019
27
Dissecting cellular mechanics: Implications for aging, cancer, and immunity. 61
30359779 2019
28
Chromatin compartment dynamics in a haploinsufficient model of cardiac laminopathy. 61
31395619 2019
29
Lamin A/C gene (LMNA) mutation associated with laminopathy: A rare cause of idiopathic acro-osteolysis. 61
30528549 2019
30
The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy. 61
31118417 2019
31
Loss of CRWN Nuclear Proteins Induces Cell Death and Salicylic Acid Defense Signaling. 61
30696746 2019
32
Deciphering Nuclear Mechanobiology in Laminopathy. 61
30862117 2019
33
Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants. 61
30420677 2019
34
Complex effects of laminopathy mutations on nuclear structure and function. 61
30280378 2019
35
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes. 61
30561119 2019
36
Suppression of myopathic lamin mutations by muscle-specific activation of AMPK and modulation of downstream signaling. 61
30239736 2019
37
Genomic instability and DNA replication defects in progeroid syndromes. 61
29936894 2018
38
Targeted Perturbation of Nuclear Envelope Integrity with Vapor Nanobubble-Mediated Photoporation. 61
30001106 2018
39
Increasing autophagy and blocking Nrf2 suppress laminopathy-induced age-dependent cardiac dysfunction and shortened lifespan. 61
29575479 2018
40
Inflammatory myopathy in the context of an unusual overlapping laminopathy. 61
29791652 2018
41
Changes at the nuclear lamina alter binding of pioneer factor Foxa2 in aged liver. 61
29484800 2018
42
Membranous glomerulonephritis with an LMNA mutation. 61
29349732 2018
43
A Novel Truncating LMNA Mutation in Patients with Cardiac Conduction Disorders and Dilated Cardiomyopathy. 61
29628476 2018
44
Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts. 61
29581305 2018
45
Lamins and bone disorders: current understanding and perspectives. 61
29854317 2018
46
Correction for DuBose et al., Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts. 61
29666268 2018
47
Low-symptomatic skeletal muscle disease in patients with a cardiac disease - Diagnostic approach in skeletal muscle laminopathies. 61
28987496 2018
48
Exploring the Crosstalk Between LMNA and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy. 61
30050558 2018
49
Induced Pluripotent Stem Cells to Study Mechanisms of Laminopathies: Focus on Epigenetics. 61
30619852 2018
50
Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies. 61
29895224 2018
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Variations for Laminopathy

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ClinVar genetic disease variations for Laminopathy:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMNA NM_170707.3(LMNA):c.(?_1)_(356_?)del (p.(?)) Deletion Pathogenic 180106 1:156084710-156085065 1:156114919-156115274
2 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) SNV Pathogenic 14486 rs11575937 1:156106776-156106776 1:156136985-156136985
3 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) SNV Pathogenic 36473 rs386134243 1:156105758-156105758 1:156135967-156135967
4 LMNA NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) SNV Likely pathogenic 200938 rs794728591 1:156104602-156104602 1:156134811-156134811
5 LMNA NM_170707.4(LMNA):c.1110C>G (p.Asp370Glu) SNV Likely pathogenic 228270 rs876657649 1:156105865-156105865 1:156136074-156136074
6 LMNA NM_170707.4(LMNA):c.745C>G (p.Arg249Gly) SNV Likely pathogenic 48077 rs121912496 1:156104701-156104701 1:156134910-156134910
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Expression for Laminopathy

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Search GEO for disease gene expression data for Laminopathy.
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Pathways for Laminopathy

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Pathways related to Laminopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Cell Cycle, Mitotic 65
Show member pathways
 12.33 SYNE2 SUN2 SUN1 PCNA NUP98 LMNA
2
Meiosis 65
Show member pathways
 11.72 SYNE2 SUN2 SUN1 LMNA
3
Initiation of Nuclear Envelope Reformation 65
Show member pathways
 10.67 LMNA EMD
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GO Terms for Laminopathy

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Cellular components related to Laminopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.06 ZMPSTE24 XPA SYNE2 SUN2 SUN1 SLC4A1AP
2 nucleoplasm GO:0005654 10.02 XPA SYNE2 SLC4A1AP SCN5A PCNA NUP98
3 chromosome, telomeric region GO:0000781 9.63 SUN2 PCNA CBX1
4 nuclear outer membrane GO:0005640 9.48 SYNE2 EMD
5 nuclear inner membrane GO:0005637 9.46 ZMPSTE24 SUN2 SUN1 EMD
6 integral component of nuclear inner membrane GO:0005639 9.43 SUN2 SUN1
7 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.43 SYNE2 SUN2 SUN1
8 nuclear membrane GO:0031965 9.43 SYNE2 SUN2 SUN1 NUP98 LMNA EMD
9 nuclear lamina GO:0005652 9.4 PCNA LMNA
10 nuclear envelope GO:0005635 9.17 ZMPSTE24 SYNE2 SUN2 SUN1 NUP98 LMNA

Biological processes related to Laminopathy according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.78 ZMPSTE24 XPA PCNA CBX1
2 cardiac conduction GO:0061337 9.55 ZMPSTE24 SCN5A
3 nucleotide-excision repair, DNA incision GO:0033683 9.54 XPA PCNA
4 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.52 XPA PCNA
5 protein localization to nucleus GO:0034504 9.51 XPA LMNA
6 nucleus organization GO:0006997 9.49 ZMPSTE24 LMNA
7 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.46 ZMPSTE24 SCN5A
8 nuclear migration GO:0007097 9.43 SYNE2 SUN2
9 mitotic nuclear envelope reassembly GO:0007084 9.4 LMNA EMD
10 cardiac ventricle development GO:0003231 9.37 ZMPSTE24 SCN5A
11 centrosome localization GO:0051642 9.33 SYNE2 SUN2 SUN1
12 nuclear matrix anchoring at nuclear membrane GO:0090292 9.32 SUN2 SUN1
13 nuclear migration along microfilament GO:0031022 9.26 SYNE2 SUN2
14 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 9.13 SYNE2 SUN2 SUN1
15 nuclear envelope organization GO:0006998 8.92 ZMPSTE24 SUN2 SUN1 LMNA

Molecular functions related to Laminopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein membrane anchor GO:0043495 8.96 SUN2 SUN1
2 lamin binding GO:0005521 8.62 SUN2 SUN1
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Sources for Laminopathy

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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