MCID: LMN011
MIFTS: 23

Laminopathy

Categories: Rare diseases
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Aliases & Classifications for Laminopathy

MalaCards integrated aliases for Laminopathy:

Name: Laminopathy 58 5 75

Classifications:



External Ids:

Orphanet 58 ORPHA98301

Summaries for Laminopathy

MalaCards based summary: Laminopathy is related to pelger-huet anomaly and reynolds syndrome. An important gene associated with Laminopathy is LMNA (Lamin A/C). The drug Lonafarnib has been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, adipocyte and smooth muscle.

Wikipedia: 75 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 97)
# Related Disease Score Top Affiliating Genes
1 pelger-huet anomaly 11.0
2 reynolds syndrome 11.0
3 mandibuloacral dysplasia progeroid syndrome 11.0
4 autosomal semi-dominant severe lipodystrophic laminopathy 11.0
5 laminopathy with striated muscle involvement 11.0
6 laminopathy with lipodystrophy 11.0
7 laminopathy with peripheral neuropathy 11.0
8 laminopathy with premature aging 11.0
9 hutchinson-gilford progeria syndrome 10.4
10 emery-dreifuss muscular dystrophy 10.3
11 muscular dystrophy 10.3
12 dilated cardiomyopathy 10.3
13 premature aging 10.3
14 restrictive dermopathy 10.2
15 myopathy 10.1
16 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.1
17 emery-dreifuss muscular dystrophy 1, x-linked 10.1
18 charcot-marie-tooth disease, axonal, type 2e 10.1
19 familial partial lipodystrophy 10.1
20 emerinopathy 10.1
21 cardiac conduction defect 10.0
22 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0
23 mandibuloacral dysplasia with type a lipodystrophy 10.0
24 werner syndrome 10.0
25 adrenomyodystrophy 10.0
26 limb-girdle muscular dystrophy 10.0
27 progeroid syndrome 10.0
28 alzheimer disease, familial, 1 9.9
29 lipodystrophy, familial partial, type 2 9.9
30 roussy-levy hereditary areflexic dystasia 9.9
31 restrictive dermopathy 1 9.9
32 aging 9.9
33 mandibuloacral dysplasia with type b lipodystrophy 9.9
34 hereditary sensory neuropathy 9.9
35 atrial fibrillation 9.9
36 charcot-marie-tooth disease 9.9
37 tooth disease 9.9
38 axonal neuropathy 9.9
39 atypical werner syndrome 9.9
40 limb-girdle muscular dystrophy type 1b 9.9
41 atrial standstill 9.9
42 x-linked emery-dreifuss muscular dystrophy 9.9
43 acroosteolysis 9.8
44 adult syndrome 9.8
45 atrial standstill 1 9.8
46 autoimmune disease 9.8
47 cardiomyopathy, dilated, 1a 9.8
48 holt-oram syndrome 9.8
49 inclusion body myositis 9.8
50 retinoblastoma 9.8

Graphical network of the top 20 diseases related to Laminopathy:



Diseases related to Laminopathy

Symptoms & Phenotypes for Laminopathy

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 Approved, Investigational 193275-84-2 148195

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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 Approved for marketing NCT03895528 Lonafarnib
2 Subanalysis in Patients With CARDIoLAMinopathy Enrolled to Retrospective and Observational Registy on Cardiac Contractility Modulation Therapy Recruiting NCT04904393

Search NIH Clinical Center for Laminopathy

Genetic Tests for Laminopathy

Anatomical Context for Laminopathy

Organs/tissues related to Laminopathy:

MalaCards : Skeletal Muscle, Adipocyte, Smooth Muscle, Heart, Retina, Ovary, Bone

Publications for Laminopathy

Articles related to Laminopathy:

(show top 50) (show all 283)
# Title Authors PMID Year
1
Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling. 62 5
23427149 2013
2
Inflammatory changes in infantile-onset LMNA-associated myopathy. 62 5
21632249 2011
3
The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope. 5
29943882 2018
4
Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers. 5
29237675 2017
5
Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly. 5
27723096 2017
6
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 5
27532257 2017
7
Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del. 5
27585670 2017
8
Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations. 5
29149195 2017
9
Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers. 5
27884249 2016
10
Familial partial lipodystrophy as differential diagnosis of polycystic ovary syndrome. 5
26662654 2015
11
Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors. 5
24806962 2014
12
Phenotypic intermediate forms overlapping to Emery-Dreifuss and limb girdle muscular dystrophies caused by lamin A/C gene mutations. 5
24656463 2014
13
Lamin A/C mutations in dilated cardiomyopathy. 5
24846508 2014
14
Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. 5
23853504 2013
15
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 5
23183350 2013
16
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. 5
23313286 2013
17
Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations. 5
22700598 2012
18
Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy. 5
22224630 2012
19
Genetic testing for dilated cardiomyopathy in clinical practice. 5
22464770 2012
20
Structures of the lamin A/C R335W and E347K mutants: implications for dilated cardiolaminopathies. 5
22266370 2012
21
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. 5
20848652 2011
22
Two children with "dropped head" syndrome due to lamin A/C mutations. 5
20886652 2010
23
The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation. 5
19201734 2009
24
A case of Dunnigan-type familial partial lipodystrophy (FPLD) due to lamin A/C (LMNA) mutations complicated by end-stage renal disease. 5
19011997 2009
25
Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin. 5
18728124 2008
26
De novo LMNA mutations cause a new form of congenital muscular dystrophy. 5
18551513 2008
27
Laminopathies in Russian families. 5
18564364 2008
28
Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene. 5
17599607 2007
29
Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy. 5
16415042 2006
30
Hepatic steatosis in Dunnigan-type familial partial lipodystrophy. 5
16181372 2005
31
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. 5
14684700 2003
32
Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B. 5
12032588 2002
33
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. 5
11792809 2001
34
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. 5
11503164 2001
35
Head and/or CaaX domain deletions of lamin proteins disrupt preformed lamin A and C but not lamin B structure in mammalian cells. 5
11102526 2000
36
Familial partial lipodystrophy: a monogenic form of the insulin resistance syndrome. 5
11136544 2000
37
Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy. 5
11078466 2000
38
LMNA R482Q mutation in partial lipodystrophy associated with reduced plasma leptin concentration. 5
10999791 2000
39
Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. 5
10999845 2000
40
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. 5
10939567 2000
41
Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes. 5
10810087 2000
42
Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. 5
10739751 2000
43
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. 5
10739764 2000
44
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 5
10655060 2000
45
Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance. 5
10868844 2000
46
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. 5
10587585 2000
47
The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging. 62
36225129 2022
48
The most severe form of LMNA-associated congenital muscular dystrophy. 62
35729056 2022
49
[A case report of laminopathy-cardiomyopathy]. 62
36299226 2022
50
Genotype Complements the Phenotype: Identification of the Pathogenicity of an LMNA Splice Variant by Nanopore Long-Read Sequencing in a Large DCM Family. 62
36293084 2022

Variations for Laminopathy

ClinVar genetic disease variations for Laminopathy:

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

Expression for Laminopathy

Search GEO for disease gene expression data for Laminopathy.

Pathways for Laminopathy

GO Terms for Laminopathy

Sources for Laminopathy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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