MCID: NML001
MIFTS: 47

Nemaline Myopathy malady

Categories: Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases

Aliases & Classifications for Nemaline Myopathy

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Aliases & Descriptions for Nemaline Myopathy:

Name: Nemaline Myopathy 10 11 21 45 22 23 12
Nemaline Rod Myopathy 10 21 45 22
Nemaline Body Disease 10 45 23
Myopathies, Nemaline 23 36 65
Rod Myopathy 10 45 23
Nemaline Rod Disease 45 23
 
Myopathies Nemaline 47 24
Rod-Body Myopathy 45 23
Rod Body Disease 45 23
Congenital Rod Disease 45
Myopathy, Nemaline 23
Nm 45

Classifications:



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Disease Ontology10 DOID:3191
ICD1027 G71.2
SNOMED-CT59 75072002
MeSH36 D017696
UMLS65 C0206157

Summaries for Nemaline Myopathy

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NIH Rare Diseases:45 Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. people with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. this weakness can worsen over time. affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). mutations in at least six genes can cause nemaline myopathy. some individuals with nemaline myopathy do not have an identified mutation. the genetic cause of the disorder is unknown in these individuals. nemaline myopathy is usually inherited in an autosomal recessive pattern. less often, this condition is inherited in an autosomal dominant pattern.nemaline myopathy is divided into six types. you can search for information about a particular type of nemaline myopathy from the gard home page. enter the name of the condition in the gard search box and then select the type from the drop down menu. last updated: 3/10/2014

MalaCards based summary: Nemaline Myopathy, also known as nemaline rod myopathy, is related to nemaline myopathy 1, autosomal dominant or recessive and nemaline myopathy 5, amish type. An important gene associated with Nemaline Myopathy is TPM3 (Tropomyosin 3), and among its related pathways are Cardiac muscle contraction and Smooth Muscle Contraction. Affiliated tissues include skeletal muscle, lung and t cells, and related mouse phenotype muscle.

Disease Ontology:10 A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies.

Genetics Home Reference:23 Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual. As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur.

Wikipedia:68 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary... more...

GeneReviews summary for NBK1288

Related Diseases for Nemaline Myopathy

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Diseases in the Nemaline Myopathy family:

Nemaline Myopathy 1, Autosomal Dominant or Recessive Nemaline Myopathy 3, Autosomal Dominant or Recessive
Nemaline Myopathy 2, Autosomal Recessive Nemaline Myopathy 9
Nemaline Myopathy 8, Autosomal Recessive Nemaline Myopathy 10
Nemaline Myopathy 4, Autosomal Dominant Nemaline Myopathy 7, Autosomal Recessive
Nemaline Myopathy 6, Autosomal Dominant Adult-Onset Nemaline Myopathy
Intermediate Congenital Nemaline Myopathy Severe Congenital Nemaline Myopathy
Klhl40-Related Nemaline Myopathy Acta1-Related Nemaline Myopathy
Cfl2-Related Nemaline Myopathy Kbtbd13-Related Nemaline Myopathy
Klhl41-Related Nemaline Myopathy Neb-Related Nemaline Myopathy
Tnnt1-Related Nemaline Myopathy Tpm2-Related Nemaline Myopathy
Tpm3-Related Nemaline Myopathy

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

(show top 50)    (show all 269)
idRelated DiseaseScoreTop Affiliating Genes
1nemaline myopathy 1, autosomal dominant or recessive34.2ACTA1, TPM3
2nemaline myopathy 5, amish type12.8
3nemaline myopathy 3, autosomal dominant or recessive12.7
4nemaline myopathy 7, autosomal recessive12.7
5nemaline myopathy 2, autosomal recessive12.7
6nemaline myopathy 4, autosomal dominant12.6
7nemaline myopathy 6, autosomal dominant12.6
8nemaline myopathy 912.6
9nemaline myopathy 8, autosomal recessive12.6
10nemaline myopathy 1012.6
11childhood-onset nemaline myopathy12.5
12tnnt1-related nemaline myopathy12.5
13adult-onset nemaline myopathy12.4
14intermediate congenital nemaline myopathy12.4
15typical congenital nemaline myopathy12.4
16acta1-related nemaline myopathy12.4
17cfl2-related nemaline myopathy12.4
18kbtbd13-related nemaline myopathy12.4
19klhl41-related nemaline myopathy12.4
20neb-related nemaline myopathy12.4
21tpm2-related nemaline myopathy12.4
22tpm3-related nemaline myopathy12.4
23severe congenital nemaline myopathy12.4
24klhl40-related nemaline myopathy12.4
25actin-accumulation myopathy11.5
26intranuclear rod myopathy11.4
27breast cancer10.6
28pancreatitis10.5
29endotheliitis10.5
30dermatitis10.4
31neuronitis10.4
32leukemia10.4
33lymphoma10.4
34colorectal cancer10.3
35hepatitis10.3
36prostatitis10.3
37melanoma10.3
38ovarian cancer10.3
39ischemia10.3
40lung disease10.3
41prostate cancer10.2
42asthma10.2
43renal cell carcinoma10.2
44brain injury10.2
45thalassemia10.2
46traumatic brain injury10.2
47hyperparathyroidism10.2
48patent foramen ovale10.2
49acromegaly10.2
50atopic dermatitis10.2

Graphical network of the top 20 diseases related to Nemaline Myopathy:



Diseases related to nemaline myopathy

Symptoms for Nemaline Myopathy

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Drugs & Therapeutics for Nemaline Myopathy

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1tyrosineNutraceuticalPhase 2596

Interventional clinical trials:

idNameStatusNCT IDPhase
1Treatment of TNNT1-Myopathy With L-Tyrosine.Enrolling by invitationNCT02035501Phase 2
2Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
3Molecular and Genetic Studies of Congenital MyopathiesRecruitingNCT00272883

Search NIH Clinical Center for Nemaline Myopathy


Cochrane evidence based reviews: myopathies, nemaline

Genetic Tests for Nemaline Myopathy

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Genetic tests related to Nemaline Myopathy:

id Genetic test Affiliating Genes
1 Nemaline Myopathy22 TPM3

Anatomical Context for Nemaline Myopathy

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MalaCards organs/tissues related to Nemaline Myopathy:

33
Skeletal muscle, Lung, T cells, Breast, Kidney, Testes, Colon

Animal Models for Nemaline Myopathy or affiliated genes

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MGI Mouse Phenotypes related to Nemaline Myopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.6ACTA1, CFL2, LMOD3, NEB, TNNT1, TPM3

Publications for Nemaline Myopathy

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Articles related to Nemaline Myopathy:

(show top 50)    (show all 314)
idTitleAuthorsYear
1
Influence of HCV and HIV on Development of Cryoglobulinemia. (25723551)
2015
2
The efficacy of hydro alcoholic extract of Seidlitzia rosmarinus on experimental zoonotic cutaneous leishmaniasis lesions in murine model. (25386402)
2014
3
Thymine distribution in genes provides novel insight into the functional significance of the proteome of the malaria parasite Plasmodium falciparum 3D7. (24132930)
2013
4
OTUB1 enhances TGFI^ signalling by inhibiting the ubiquitylation and degradation of active SMAD2/3. (24071738)
2013
5
Isolated Sinusitis of Lateral Recesses of Sphenoid Sinus. (24057972)
2013
6
Azithromycin reduces inflammation in a rat model of acute conjunctivitis. (23378729)
2013
7
A case of granular cell tumor masquerading as a keratoacanthoma. (23627913)
2013
8
The serum concentration of allograft inflammatory factor-1 is correlated with metabolic parameters in healthy subjects. (22225958)
2012
9
Eculizumab in the treatment of atypical hemolytic uremic syndrome in infants. (22196848)
2012
10
Contrasted patterns of selection on MHC-linked microsatellites in natural populations of the Malagasy plague reservoir. (22403713)
2012
11
Interplay between oncogenic K-Ras and wild-type H-Ras in Caco2 cell transformation. (22800643)
2012
12
Prolyl hydroxylase 2: a novel regulator of beta2 -adrenoceptor internalization. (21255264)
2011
13
Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction. (19344718)
2009
14
The relationship between plasma BNP level and the left ventricular dysfunction parameters in patients with acute myocardial infarction and it's value in diagonosing heart failure.]. (19781144)
2009
15
The Est3 protein associates with yeast telomerase through an OB-fold domain. (19172754)
2008
16
Nerve growth factor promotes formation of lumen-like structures in vitro through inducing apoptosis in human umbilical vein endothelial cells. (18068123)
2008
17
MUC1 expression is regulated by DNA methylation and histone H3 lysine 9 modification in cancer cells. (18413738)
2008
18
Sulfatide increases adiponectin and decreases TNF-alpha, IL-6, and IL-8 in human adipose tissue in vitro. (17097222)
2007
19
Associations of adiponectin with body fat distribution and insulin sensitivity in nondiabetic Hispanics and African-Americans. (17426091)
2007
20
Protective effects of overexpression TCR Vbeta5.2-HSP70 and TCR Vbeta8.2-HSP70 against collagen-induced arthritis in rats. (18163955)
2007
21
Old World and clade C New World arenaviruses mimic the molecular mechanism of receptor recognition used by alpha-dystroglycan's host- derived ligands. (17360738)
2007
22
Prenatal alcohol exposure and cryptorchidism. (17888049)
2007
23
Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype. (16270353)
2006
24
Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family. (16788854)
2006
25
Efficient expression and purification of human beta-defensin-2 in E.coli]. (17177327)
2006
26
Hemobilia in a patient with protein S deficiency after laparoscopic cholecystectomy that caused acute pancreatitis: successful endoscopic management. (15990843)
2005
27
Effects of benzyl-, phenethyl-, and alpha-naphthyl isothiocyanates on P-glycoprotein- and MRP1-mediated transport. (15176077)
2004
28
Gene expression profile of Mycobacterium tuberculosis in a non-replicating state. (15207493)
2004
29
Calcium and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE). (15346160)
2003
30
P63 expression in papillary and anaplastic carcinomas of the thyroid gland: lack of an oncogenetic role in tumorigenesis and progression. (12234063)
2002
31
Effects of leptin on arcuate pro-opiomelanocortin and cocaine-amphetamine-regulated transcript expression are independent of circulating levels of corticosterone. (12421341)
2002
32
Heterochromatin formation in mammalian cells: interaction between histones and HP1 proteins. (11336697)
2001
33
Isolated juvenile xanthogranuloma of the subglottis: case report. (11295817)
2001
34
A high frequency of tumors with rearrangements of genes of the HMGI(Y) family in a series of 191 pulmonary chondroid hamartomas. (10469450)
1999
35
Lipoprotein lipase gene mutations in coronary artery disease. (9627528)
1998
36
Mouse CD23 regulates monocyte activation through an interaction with the adhesion molecule CD11b/CD18. (9341771)
1997
37
Treatment of negative symptoms in schizophrenia and schizoaffective disorder by selegiline augmentation of antipsychotic medication. A pilot study examining the role of dopamine. (8627275)
1996
38
What syndrome is this? Hunter syndrome (mucopolysaccharidosis II). (8747590)
1995
39
Activation of MYCN in a case of non-Hodgkin's lymphoma. (8528061)
1995
40
Deposition of kappa and lambda light chains in amyloid filaments of dialysis-related amyloidosis. (8589295)
1995
41
Are cerebral aneurysms atherosclerotic? (8165691)
1994
42
Efficacy of fluoxetine in trichotillomania. (7849338)
1994
43
Interaction of G-actin with thymosin beta 4 and its variants thymosin beta 9 and thymosin beta met9. (7929793)
1994
44
The ht beta gene encodes a novel CACCC box-binding protein that regulates T-cell receptor gene expression. (8355710)
1993
45
Multiple penetrating colonic ulcers in secondary amyloidosis caused by rheumatoid arthritis. (8465657)
1993
46
Ultrastructural morphology of early cellular changes in the synovium of primary synovial chondromatosis. (1537170)
1992
47
Bovine plasma protein C inhibitor with structural and functional homologous properties to human plasma protein C inhibitor. (2160449)
1990
48
A rare case of angiodysplasia: penetration of inguinal lymph nodes by large superficial leg veins. Report of five cases. (2114699)
1990
49
Hand, foot and mouth disease. (4525203)
1974
50

Variations for Nemaline Myopathy

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Expression for genes affiliated with Nemaline Myopathy

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Search GEO for disease gene expression data for Nemaline Myopathy.

Pathways for genes affiliated with Nemaline Myopathy

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GO Terms for genes affiliated with Nemaline Myopathy

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Cellular components related to Nemaline Myopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1stress fiberGO:00017259.9ACTA1, TPM3
2I bandGO:00316749.4CFL2, KLHL40

Biological processes related to Nemaline Myopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:00069369.3ACTA1, LMOD3

Sources for Nemaline Myopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet