Laminopathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Laminopathy

MalaCards integrated aliases for Laminopathy:

Name: Laminopathy ⁵⁸ ⁵ ⁷⁵

Classifications:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

External Ids:

Orphanet ⁵⁸ ORPHA98301

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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...

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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
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:

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Symptoms & Phenotypes for Laminopathy

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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

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Genetic Tests for Laminopathy

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Anatomical Context for Laminopathy

Organs/tissues related to Laminopathy:

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

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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	Zwerger M...Lammerding J	23427149	2013
2	Inflammatory changes in infantile-onset LMNA-associated myopathy. ⁶² ⁵	Komaki H...Nishino I	21632249	2011
3	The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope. ⁵	Al-Saaidi RA...Mogensen J	29943882	2018
4	Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers. ⁵	Nishiuchi S...Kimura T	29237675	2017
5	Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly. ⁵	Zaragoza MV...Elliott AM	27723096	2017
6	Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. ⁵	Walsh R...Watkins H	27532257	2017
7	Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del. ⁵	Madej-Pilarczyk A...Hausmanowa-Petrusewicz I	27585670	2017
8	Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations. ⁵	Core JQ...Grosberg A	29149195	2017
9	Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers. ⁵	Kumar S...Lakdawala NK	27884249	2016
10	Familial partial lipodystrophy as differential diagnosis of polycystic ovary syndrome. ⁵	Lewandowski KC...Gach A	26662654	2015
11	Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors. ⁵	Bertrand AT...Coirault C	24806962	2014
12	Phenotypic intermediate forms overlapping to Emery-Dreifuss and limb girdle muscular dystrophies caused by lamin A/C gene mutations. ⁵	Albuquerque MA...Zanoteli E	24656463	2014
13	Lamin A/C mutations in dilated cardiomyopathy. ⁵	Tesson F...Bilinska Z	24846508	2014
14	Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. ⁵	Carboni N...Giovanna Marrosu M	23853504	2013
15	Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. ⁵	van Rijsingen IA...Pinto YM	23183350	2013
16	Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. ⁵	Wiltshire KM...Brownell AK	23313286	2013
17	Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations. ⁵	Mory PB...Moises RS	22700598	2012
18	Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy. ⁵	Stallmeyer B...Schulze-Bahr E	22224630	2012
19	Genetic testing for dilated cardiomyopathy in clinical practice. ⁵	Lakdawala NK...Ho CY	22464770	2012
20	Structures of the lamin A/C R335W and E347K mutants: implications for dilated cardiolaminopathies. ⁵	Bollati M...Bolognesi M	22266370	2012
21	Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. ⁵	Scharner J...Zammit PS	20848652	2011
22	Two children with "dropped head" syndrome due to lamin A/C mutations. ⁵	Chemla JC...Smith EC	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	Wojtanik KM...Londos C	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	Imachi H...Ishida T	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	Gambineri A...Pasquali R	18728124	2008
26	De novo LMNA mutations cause a new form of congenital muscular dystrophy. ⁵	Quijano-Roy S...Estournet B	18551513	2008
27	Laminopathies in Russian families. ⁵	Rudenskaya GE...Ginter EK	18564364	2008
28	Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene. ⁵	van Tintelen JP...Pinto YM	17599607	2007
29	Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy. ⁵	Boguslavsky RL...Worman HJ	16415042	2006
30	Hepatic steatosis in Dunnigan-type familial partial lipodystrophy. ⁵	Ludtke A...Schmidt HH	16181372	2005
31	Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. ⁵	Vytopil M...Toniolo D	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	Ki CS...Kim JW	12032588	2002
33	Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. ⁵	Ostlund C...Worman HJ	11792809	2001
34	Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. ⁵	Brown CA...Spence JE	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	Izumi M...Gilbert DM	11102526	2000
36	Familial partial lipodystrophy: a monogenic form of the insulin resistance syndrome. ⁵	Hegele RA	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	Vigouroux C...Capeau J	11078466	2000
38	LMNA R482Q mutation in partial lipodystrophy associated with reduced plasma leptin concentration. ⁵	Hegele RA...Anderson CM	10999791	2000
39	Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. ⁵	Hegele RA...Hramiak IM	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	Bonne G...Muntoni F	10939567	2000
41	Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes. ⁵	Hegele RA...Cao H	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	Speckman RA...Bowcock AM	10739751	2000
43	Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. ⁵	Raffaele Di Barletta M...Toniolo D	10739764	2000
44	LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. ⁵	Shackleton S...Trembath RC	10655060	2000
45	Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance. ⁵	Hegele RA...Cao H	10868844	2000
46	Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. ⁵	Cao H...Hegele RA	10587585	2000
47	The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging. ⁶²	Ghosh DK...Girisha KM	36225129	2022
48	The most severe form of LMNA-associated congenital muscular dystrophy. ⁶²	Murofushi Y...Kubota M	35729056	2022
49	[A case report of laminopathy-cardiomyopathy]. ⁶²	Lu Y...Tian Z	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	Sedaghat-Hamedani F...Meder B	36293084	2022

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Genes for Laminopathy

Genes related to Laminopathy (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LMNA	Lamin A/C	Protein Coding	433.27	Pathogenic ⁵ Likely pathogenic ⁵ GeneCards inferred via : Publications (show sections)	10587585 10655060 10739751 (more) 10810087 10868844 10999791 10999845 11078466 11102526 11136544 11792809 16181372 16415042 17599607 18728124 19011997 19201734 22224630 22266370 22464770 22700598 23183350 23313286 23427149 23853504 24846508 26662654 27532257 27585670 27723096 29149195 29237675 10739764 10939567 11503164 12032588 14684700 18551513 18564364 20848652 20886652 21632249 24656463 24806962 27884249 29943882

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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

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Expression for Laminopathy

Search GEO for disease gene expression data for Laminopathy.

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Pathways for Laminopathy

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GO Terms for Laminopathy

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Sources for Laminopathy

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: LMN011 MIFTS: 23	Laminopathy Categories: Rare diseases	Data Licensing For inquiries, contact: [email protected]
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