Aliases & Classifications for Laminopathy

MalaCards integrated aliases for Laminopathy:

Name: Laminopathy 58 6

Classifications:



External Ids:

Orphanet 58 ORPHA98301

Summaries for Laminopathy

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 drug Lonafarnib has been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone and retina, 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...

Related Diseases for Laminopathy

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

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 restrictive dermopathy, lethal 33.1 ZMPSTE24 LMNA
2 reynolds syndrome 32.5 ZMPSTE24 SUN2 LMNA
3 pelger-huet anomaly 32.5 SUN1 LMNA EMD
4 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 31.4 ZMPSTE24 LMNA
5 mandibuloacral dysplasia with type a lipodystrophy 31.1 ZMPSTE24 LMNA
6 acroosteolysis 30.6 ZMPSTE24 LMNA
7 cardiac conduction defect 30.5 SCN5A LMNA
8 emerinopathy 30.5 SUN2 LMNA EMD
9 lipodystrophy, familial partial, type 2 30.3 ZMPSTE24 LMNA
10 skin atrophy 30.2 ZMPSTE24 LMNA
11 atrial standstill 1 30.2 SCN5A LMNA EMD
12 charcot-marie-tooth disease 30.1 SUN2 SUN1 LMNA EMD
13 muscular dystrophy 30.1 SYNE2 SUN2 SUN1 LMNA EMD
14 emery-dreifuss muscular dystrophy 30.0 SYNE2 SUN2 SUN1 LMNA EMD
15 first-degree atrioventricular block 29.8 SCN5A LMNA EMD
16 x-linked emery-dreifuss muscular dystrophy 29.7 SYNE2 LMNA EMD
17 greenberg dysplasia 29.7 SUN2 SUN1 LMNA EMD
18 atrial fibrillation 29.6 SCN5A LMNA EMD
19 arrhythmogenic right ventricular cardiomyopathy 29.5 SCN5A LMNA EMD
20 dilated cardiomyopathy 29.5 SYNE2 SUN2 SCN5A LMNA EMD
21 emery-dreifuss muscular dystrophy 1, x-linked 29.2 SYNE2 SUN2 SUN1 LMNA EMD
22 hutchinson-gilford progeria syndrome 29.1 ZMPSTE24 XPA SYNE2 SUN2 SUN1 LMNA
23 emery-dreifuss muscular dystrophy 2, autosomal dominant 28.9 ZMPSTE24 SYNE2 SUN2 SUN1 LMNA EMD
24 charcot-marie-tooth disease, axonal, type 2b1 28.7 ZMPSTE24 SYNE2 SUN2 SUN1 LMNA EMD
25 muscular dystrophy, congenital, lmna-related 28.7 ZMPSTE24 SYNE2 SUN2 SUN1 LMNA EMD
26 autosomal semi-dominant severe lipodystrophic laminopathy 12.2
27 laminopathy with striated muscle involvement 12.2
28 laminopathy with lipodystrophy 12.2
29 laminopathy with peripheral neuropathy 12.2
30 laminopathy with premature aging 12.2
31 premature aging 10.6
32 familial partial lipodystrophy 10.5
33 myopathy 10.4
34 adrenomyodystrophy 10.4
35 limb-girdle muscular dystrophy 10.4
36 acquired generalized lipodystrophy 10.3 ZMPSTE24 LMNA
37 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.3 ZMPSTE24 LMNA
38 lipodystrophy, congenital generalized, type 1 10.3 ZMPSTE24 LMNA
39 complete generalized lipodystrophy 10.3 ZMPSTE24 LMNA
40 osteopoikilosis 10.3 LMNA EMD
41 buschke-ollendorff syndrome 10.2 LMNA EMD
42 werner syndrome 10.2
43 autosomal dominant limb-girdle muscular dystrophy 10.2 LMNA EMD
44 congenital generalized lipodystrophy 10.2 ZMPSTE24 LMNA
45 aging 10.2
46 tooth disease 10.2
47 axonal neuropathy 10.2
48 atypical werner syndrome 10.2
49 progeroid syndrome 10.2
50 lipodystrophy, familial partial, type 5 10.1 ZMPSTE24 LMNA EMD

Graphical network of the top 20 diseases related to Laminopathy:



Diseases related to Laminopathy

Symptoms & Phenotypes for Laminopathy

MGI Mouse Phenotypes related to Laminopathy:

45
# 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

Drugs & Therapeutics for Laminopathy

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

Genetic Tests for Laminopathy

Anatomical Context for Laminopathy

MalaCards organs/tissues related to Laminopathy:

40
Skeletal Muscle, Bone, Retina, Heart, Adipocyte, Liver, Skin

Publications for Laminopathy

Articles related to Laminopathy:

(show top 50) (show all 189)
# Title Authors PMID Year
1
Left-ventricular innervation assessed by 123I-SPECT/CT is associated with cardiac events in inherited arrhythmia syndromes. 61
32201099 2020
2
Hypopharyngeal Squamous Cell Carcinoma in Sisters with LMNA Associated Familial Partial Lipodystrophy: A Case Report and Review of the Literature. 61
32517491 2020
3
Linking skeletal muscle aging with osteoporosis by lamin A/C deficiency. 61
32479501 2020
4
Consequences of Lmna Exon 4 Mutations in Myoblast Function. 61
32455813 2020
5
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
6
RNA Sequence Analyses throughout the Course of Mouse Cardiac Laminopathy Identify Differentially Expressed Genes for Cell Cycle Control and Mitochondrial Function. 61
32313136 2020
7
Lysophosphatidic acid receptor LPA3 prevents oxidative stress and cellular senescence in Hutchinson-Gilford progeria syndrome. 61
31714004 2020
8
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
9
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
10
ERK1/2 Phosphorylation of FHOD Connects Signaling and Nuclear Positioning Alternations in Cardiac Laminopathy. 61
31794718 2019
11
Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onset. 61
31744510 2019
12
Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering. 61
31814616 2019
13
Dissecting cellular mechanics: Implications for aging, cancer, and immunity. 61
30359779 2019
14
Chromatin compartment dynamics in a haploinsufficient model of cardiac laminopathy. 61
31395619 2019
15
Lamin A/C gene (LMNA) mutation associated with laminopathy: A rare cause of idiopathic acro-osteolysis. 61
30528549 2019
16
The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy. 61
31118417 2019
17
Loss of CRWN Nuclear Proteins Induces Cell Death and Salicylic Acid Defense Signaling. 61
30696746 2019
18
Deciphering Nuclear Mechanobiology in Laminopathy. 61
30862117 2019
19
Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants. 61
30420677 2019
20
Complex effects of laminopathy mutations on nuclear structure and function. 61
30280378 2019
21
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
22
Suppression of myopathic lamin mutations by muscle-specific activation of AMPK and modulation of downstream signaling. 61
30239736 2019
23
Genomic instability and DNA replication defects in progeroid syndromes. 61
29936894 2018
24
Targeted Perturbation of Nuclear Envelope Integrity with Vapor Nanobubble-Mediated Photoporation. 61
30001106 2018
25
Increasing autophagy and blocking Nrf2 suppress laminopathy-induced age-dependent cardiac dysfunction and shortened lifespan. 61
29575479 2018
26
Inflammatory myopathy in the context of an unusual overlapping laminopathy. 61
29791652 2018
27
Changes at the nuclear lamina alter binding of pioneer factor Foxa2 in aged liver. 61
29484800 2018
28
Membranous glomerulonephritis with an LMNA mutation. 61
29349732 2018
29
A Novel Truncating LMNA Mutation in Patients with Cardiac Conduction Disorders and Dilated Cardiomyopathy. 61
29628476 2018
30
Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts. 61
29581305 2018
31
Lamins and bone disorders: current understanding and perspectives. 61
29854317 2018
32
Correction for DuBose et al., Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts. 61
29666268 2018
33
Low-symptomatic skeletal muscle disease in patients with a cardiac disease - Diagnostic approach in skeletal muscle laminopathies. 61
28987496 2018
34
Exploring the Crosstalk Between LMNA and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy. 61
30050558 2018
35
Induced Pluripotent Stem Cells to Study Mechanisms of Laminopathies: Focus on Epigenetics. 61
30619852 2018
36
Bone mineral density in familial partial lipodystrophy. 61
29078011 2018
37
Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies. 61
29895224 2018
38
Modeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic LMNA Mutations. 61
30405424 2018
39
A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy. 61
30083363 2018
40
Laminopathy-causing lamin A mutations reconfigure lamina-associated domains and local spatial chromatin conformation. 61
29517398 2018
41
Bypassing Border Control: Nuclear Envelope Rupture in Disease. 61
29212891 2018
42
Hepatocyte-Specific Deletion of Mouse Lamin A/C Leads to Male-Selective Steatohepatitis. 61
28913408 2017
43
Hereditary myopathies with early respiratory insufficiency in adults. 61
28181274 2017
44
Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture. 61
29057633 2017
45
Nucleocytoplasmic transport in cells with progerin-induced defective nuclear lamina. 61
28712764 2017
46
Progerin sequestration of PCNA promotes replication fork collapse and mislocalization of XPA in laminopathy-related progeroid syndromes. 61
28515154 2017
47
Lipodystrophic laminopathy: Lamin A mutation relaxes chromatin architecture to impair adipogenesis. 61
28811278 2017
48
A lipodystrophy-causing lamin A mutant alters conformation and epigenetic regulation of the anti-adipogenic MIR335 locus. 61
28751304 2017
49
Bundle Branch Re-Entrant Ventricular Tachycardia: Novel Genetic Mechanisms in a Life-Threatening Arrhythmia. 61
29759522 2017
50
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. 61
28663758 2017

Variations for Laminopathy

ClinVar genetic disease variations for Laminopathy:

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

Expression for Laminopathy

Search GEO for disease gene expression data for Laminopathy.

Pathways for Laminopathy

Pathways related to Laminopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.33 SYNE2 SUN2 SUN1 PCNA NUP98 LMNA
2
Show member pathways
11.72 SYNE2 SUN2 SUN1 LMNA
3
Show member pathways
10.67 LMNA EMD

GO Terms for Laminopathy

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 nuclear chromosome, telomeric region GO:0000784 9.61 SUN2 PCNA CBX1
4 nuclear outer membrane GO:0005640 9.48 SYNE2 EMD
5 integral component of nuclear inner membrane GO:0005639 9.46 SUN2 SUN1
6 nuclear inner membrane GO:0005637 9.46 ZMPSTE24 SUN2 SUN1 EMD
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 16)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.8 ZMPSTE24 XPA PCNA CBX1
2 cardiac conduction GO:0061337 9.56 ZMPSTE24 SCN5A
3 nucleotide-excision repair, DNA incision GO:0033683 9.55 XPA PCNA
4 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.54 XPA PCNA
5 protein localization to nucleus GO:0034504 9.52 XPA LMNA
6 nucleus organization GO:0006997 9.51 ZMPSTE24 LMNA
7 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.48 ZMPSTE24 SCN5A
8 nuclear migration GO:0007097 9.46 SYNE2 SUN2
9 mitotic nuclear envelope reassembly GO:0007084 9.43 LMNA EMD
10 centrosome localization GO:0051642 9.43 SYNE2 SUN2 SUN1
11 cardiac ventricle development GO:0003231 9.4 ZMPSTE24 SCN5A
12 nuclear matrix anchoring at nuclear membrane GO:0090292 9.37 SUN2 SUN1
13 cytoskeletal anchoring at nuclear membrane GO:0090286 9.33 SYNE2 SUN2 SUN1
14 nuclear migration along microfilament GO:0031022 9.32 SYNE2 SUN2
15 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 9.13 SYNE2 SUN2 SUN1
16 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 9.93 ZMPSTE24 XPA SYNE2 SUN2 SUN1 SLC4A1AP
2 lamin binding GO:0005521 8.96 SUN2 SUN1
3 protein membrane anchor GO:0043495 8.62 SUN2 SUN1

Sources for Laminopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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