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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 59 6

Classifications:

MalaCards categories:
Global: Rare diseases
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External Ids:

Orphanet 59 ORPHA98301
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Summaries for Laminopathy

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MalaCards based summary : Laminopathy is related to restrictive dermopathy, lethal and pelger-huet anomaly. An important gene associated with Laminopathy is LMNA (Lamin A/C), and among its related pathways/superpathways are Cell Cycle, Mitotic and Meiosis. The drug Lonafarnib has been mentioned in the context of this disorder. Affiliated tissues include bone, retina and skeletal muscle, and related phenotypes are growth/size/body region and mortality/aging

Wikipedia : 75 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 107)
# Related Disease Score Top Affiliating Genes
1 restrictive dermopathy, lethal 33.4 ZMPSTE24 LMNA
2 pelger-huet anomaly 33.0 LMNA EMD
3 reynolds syndrome 32.7 ZMPSTE24 SUN2 LMNA
4 mandibuloacral dysplasia with type a lipodystrophy 31.4 ZMPSTE24 LMNA
5 familial partial lipodystrophy 31.1 LMNA EMD
6 emery-dreifuss muscular dystrophy 1, x-linked 31.0 LMNA EMD
7 acroosteolysis 30.8 ZMPSTE24 LMNA
8 cardiac conduction defect 30.7 SCN5A LMNA
9 myopathy, proximal, and ophthalmoplegia 30.7 LMNA EMD
10 ovarian cystadenoma 30.6 ZMPSTE24 LMNA
11 emerinopathy 30.6 SUN2 LMNA EMD
12 atrial standstill 1 30.5 SCN5A LMNA EMD
13 hallermann-streiff syndrome 30.4 ZMPSTE24 LMNA
14 muscular dystrophy 30.3 SYNE2 SUN2 SUN1 LMNA EMD
15 dilated cardiomyopathy 30.2 SUN2 SCN5A LMNA EMD
16 emery-dreifuss muscular dystrophy 30.2 SYNE2 SUN2 SUN1 LMNA EMD
17 atrioventricular block 30.2 SCN5A LMNA
18 arrhythmogenic right ventricular cardiomyopathy 29.9 SCN5A LMNA EMD
19 emery-dreifuss muscular dystrophy 2, autosomal dominant 29.5 SYNE2 SUN2 SUN1 LMNA EMD
20 obsolete: laminopathy type decaudain-vigouroux 12.2
21 autosomal semi-dominant severe lipodystrophic laminopathy 12.2
22 laminopathy with striated muscle involvement 12.2
23 laminopathy with lipodystrophy 12.2
24 laminopathy with peripheral neuropathy 12.2
25 laminopathy with premature aging 12.2
26 hutchinson-gilford progeria syndrome 10.7
27 premature aging 10.6
28 cardiomyopathy, dilated, 1h 10.5 LMNA EMD
29 complete generalized lipodystrophy 10.5 ZMPSTE24 LMNA
30 autosomal dominant limb-girdle muscular dystrophy 10.5 LMNA EMD
31 lipodystrophy, congenital generalized, type 1 10.5 ZMPSTE24 LMNA
32 myopathy 10.4
33 cardiomyopathy, dilated, 1a 10.4 LMNA EMD
34 adrenomyodystrophy 10.4
35 limb-girdle muscular dystrophy 10.4
36 congenital generalized lipodystrophy 10.4 ZMPSTE24 LMNA
37 aging 10.3
38 werner syndrome 10.2
39 muscular disease 10.2
40 charcot-marie-tooth disease 10.2
41 tooth disease 10.2
42 axonal neuropathy 10.2
43 atypical werner syndrome 10.2
44 progeroid syndrome 10.2
45 acquired generalized lipodystrophy 10.1 ZMPSTE24 LMNA
46 lipodystrophy, familial partial, type 2 10.1
47 charcot-marie-tooth disease, axonal, type 2b1 10.1
48 mandibuloacral dysplasia with type b lipodystrophy 10.1
49 muscular dystrophy, congenital, lmna-related 10.1
50 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.1

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 growth/size/body region MP:0005378 9.76 LMNA NUP98 PCNA SCN5A SUN1 SUN2
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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lonafarnib Investigational 193275-84-2 148195

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 Investigator-Initiated Open-Label, Randomized Study of Gemcabene in Adults With Familial Partial Lipodystrophy Disease (FPLD) Completed NCT03508687 Phase 1, Phase 2 300mg Gemcabene;600mg Gemcabene
3 A Rollover Study of ARRY-371797 in Patients With LMNA-Related Dilated Cardiomyopathy Active, not recruiting NCT02351856 Phase 2 ARRY-371797, p38 inhibitor, oral
4 Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies) Recruiting NCT03058185
5 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:

41
Bone, Retina, Skeletal Muscle, Liver, Heart, Skin, Adipocyte
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Publications for Laminopathy

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Articles related to Laminopathy:

(show top 50) (show all 178)
# Title Authors PMID Year
1
A new laminopathy caused by an Arg133/Leu mutation in lamin A/C and the effects thereof on adipocyte differentiation and the transcriptome. 38
31293201 2019
2
Chromatin compartment dynamics in a haploinsufficient model of cardiac laminopathy. 38
31395619 2019
3
Lamin A/C gene (LMNA) mutation associated with laminopathy: A rare cause of idiopathic acro-osteolysis. 38
30528549 2019
4
The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy. 38
31118417 2019
5
Loss of CRWN Nuclear Proteins Induces Cell Death and Salicylic Acid Defense Signaling. 38
30696746 2019
6
Deciphering Nuclear Mechanobiology in Laminopathy. 38
30862117 2019
7
Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants. 38
30420677 2019
8
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes. 38
30561119 2019
9
Complex effects of laminopathy mutations on nuclear structure and function. 38
30280378 2019
10
Suppression of myopathic lamin mutations by muscle-specific activation of AMPK and modulation of downstream signaling. 38
30239736 2019
11
Genomic instability and DNA replication defects in progeroid syndromes. 38
29936894 2018
12
Dissecting cellular mechanics: Implications for aging, cancer, and immunity. 38
30359779 2018
13
Targeted Perturbation of Nuclear Envelope Integrity with Vapor Nanobubble-Mediated Photoporation. 38
30001106 2018
14
Increasing autophagy and blocking Nrf2 suppress laminopathy-induced age-dependent cardiac dysfunction and shortened lifespan. 38
29575479 2018
15
Changes at the nuclear lamina alter binding of pioneer factor Foxa2 in aged liver. 38
29484800 2018
16
Inflammatory myopathy in the context of an unusual overlapping laminopathy. 38
29791652 2018
17
A Novel Truncating LMNA Mutation in Patients with Cardiac Conduction Disorders and Dilated Cardiomyopathy. 38
29628476 2018
18
Membranous glomerulonephritis with an LMNA mutation. 38
29349732 2018
19
Lamins and bone disorders: current understanding and perspectives. 38
29854317 2018
20
Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts. 38
29581305 2018
21
Correction for DuBose et al., Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts. 38
29666268 2018
22
Low-symptomatic skeletal muscle disease in patients with a cardiac disease - Diagnostic approach in skeletal muscle laminopathies. 38
28987496 2018
23
Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies. 38
29895224 2018
24
Exploring the Crosstalk Between LMNA and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy. 38
30050558 2018
25
Bone mineral density in familial partial lipodystrophy. 38
29078011 2018
26
Induced Pluripotent Stem Cells to Study Mechanisms of Laminopathies: Focus on Epigenetics. 38
30619852 2018
27
A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy. 38
30083363 2018
28
Modeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic LMNA Mutations. 38
30405424 2018
29
Laminopathy-causing lamin A mutations reconfigure lamina-associated domains and local spatial chromatin conformation. 38
29517398 2018
30
Bypassing Border Control: Nuclear Envelope Rupture in Disease. 38
29212891 2018
31
Hepatocyte-Specific Deletion of Mouse Lamin A/C Leads to Male-Selective Steatohepatitis. 38
28913408 2017
32
Hereditary myopathies with early respiratory insufficiency in adults. 38
28181274 2017
33
Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture. 38
29057633 2017
34
Nucleocytoplasmic transport in cells with progerin-induced defective nuclear lamina. 38
28712764 2017
35
Progerin sequestration of PCNA promotes replication fork collapse and mislocalization of XPA in laminopathy-related progeroid syndromes. 38
28515154 2017
36
Lipodystrophic laminopathy: Lamin A mutation relaxes chromatin architecture to impair adipogenesis. 38
28811278 2017
37
A lipodystrophy-causing lamin A mutant alters conformation and epigenetic regulation of the anti-adipogenic MIR335 locus. 38
28751304 2017
38
Bundle Branch Re-Entrant Ventricular Tachycardia: Novel Genetic Mechanisms in a Life-Threatening Arrhythmia. 38
29759522 2017
39
LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes. 38
28663758 2017
40
A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus. 38
28125586 2017
41
Chrom3D: three-dimensional genome modeling from Hi-C and nuclear lamin-genome contacts. 38
28137286 2017
42
Current insights into LMNA cardiomyopathies: Existing models and missing LINCs. 38
28125396 2017
43
Nuclear envelope rupture is induced by actin-based nucleus confinement. 38
27697922 2016
44
Recent advances in animal and human pluripotent stem cell modeling of cardiac laminopathy. 38
27649756 2016
45
Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy? 38
26733286 2016
46
Inner nuclear membrane protein Lem2 augments heterochromatin formation in response to nutritional conditions. 38
27334362 2016
47
In silico synchronization reveals regulators of nuclear ruptures in lamin A/C deficient model cells. 38
27461848 2016
48
Alzheimer's disease: An acquired neurodegenerative laminopathy. 38
27167528 2016
49
A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy. 38
27120622 2016
50
Sudden cardiac death in neuromuscular disorders. 38
26551884 2016
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Variations for Laminopathy

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ClinVar genetic disease variations for Laminopathy:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LMNA NM_005572.3(LMNA): c.1445G> A (p.Arg482Gln) single nucleotide variant Pathogenic rs11575937 1:156106776-156106776 1:156136985-156136985
2 LMNA NM_170707.4(LMNA): c.1824C> T (p.Gly608=) single nucleotide variant Pathogenic rs58596362 1:156108404-156108404 1:156138613-156138613
3 LMNA NM_170707.3(LMNA): c.(?_1)_(356_?)del (p.(?)) deletion Pathogenic 1:156084710-156085065 1:156114919-156115274
4 LMNA NM_005572.3(LMNA): c.1110C> G (p.Asp370Glu) single nucleotide variant Likely pathogenic rs876657649 1:156105865-156105865 1:156136074-156136074
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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 66
Show member pathways
 12.33 SYNE2 SUN2 SUN1 PCNA NUP98 LMNA
2
Meiosis 66
Show member pathways
 11.72 SYNE2 SUN2 SUN1 LMNA
3
Initiation of Nuclear Envelope Reformation 66
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 nucleoplasm GO:0005654 9.97 XPA SYNE2 SLC4A1AP PCNA NUP98 LMNA
2 nuclear chromosome, telomeric region GO:0000784 9.61 SUN2 PCNA CBX1
3 nuclear outer membrane GO:0005640 9.46 SYNE2 EMD
4 nuclear inner membrane GO:0005637 9.46 ZMPSTE24 SUN2 SUN1 EMD
5 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.43 SYNE2 SUN2 SUN1
6 nuclear membrane GO:0031965 9.43 SYNE2 SUN2 SUN1 NUP98 LMNA EMD
7 integral component of nuclear inner membrane GO:0005639 9.4 SUN2 SUN1
8 nuclear envelope GO:0005635 9.17 ZMPSTE24 SYNE2 SUN2 SUN1 NUP98 LMNA
9 nucleus GO:0005634 10.06 ZMPSTE24 XPA SYNE2 SUN2 SUN1 SLC4A1AP

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 9.8 ZMPSTE24 XPA PCNA CBX1
2 nucleotide-excision repair, DNA incision GO:0033683 9.55 XPA PCNA
3 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.54 XPA PCNA
4 protein localization to nucleus GO:0034504 9.52 XPA LMNA
5 nucleus organization GO:0006997 9.51 ZMPSTE24 LMNA
6 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.48 ZMPSTE24 SCN5A
7 nuclear migration GO:0007097 9.46 SYNE2 SUN2
8 mitotic nuclear envelope reassembly GO:0007084 9.43 LMNA EMD
9 centrosome localization GO:0051642 9.43 SYNE2 SUN2 SUN1
10 cardiac ventricle development GO:0003231 9.4 ZMPSTE24 SCN5A
11 nuclear matrix anchoring at nuclear membrane GO:0090292 9.37 SUN2 SUN1
12 cytoskeletal anchoring at nuclear membrane GO:0090286 9.33 SYNE2 SUN2 SUN1
13 nuclear migration along microfilament GO:0031022 9.32 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 binding GO:0005515 9.4 ZMPSTE24 XPA SYNE2 SUN2 SUN1 SLC4A1AP
2 lamin binding GO:0005521 9.16 SUN2 SUN1
3 protein membrane anchor GO:0043495 8.96 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
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 TGDB
71 Tocris
72 UMLS
73 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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