eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	nemaline myopathy

Disease ID	442
Disease	nemaline myopathy
Definition	A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)
Synonym	myopathies, nemaline myopathies, nemaline [disease/finding] myopathies, rod myopathies, rod-body myopathy, nemaline myopathy, rod myopathy, rod body myopathy, rod-body nemaline body disease nemaline myopathies nemaline myopathy (disorder) nemaline rod disease rod body disease rod body myopathy rod myopathies rod myopathy rod-body myopathies rod-body myopathy
Orphanet	ORPHANET:607
DOID	DOID:3191
UMLS	C0206157
MeSH	D017696
SNOMED-CT	SNOMEDCT_US_2016_09_01:75072002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:13) C0878544 \| cardiomyopathy \| 3 C0007193 \| dilated cardiomyopathy \| 3 C1145670 \| respiratory failure \| 2 C0018799 \| cardiac disease \| 2 C1527336 \| sjogren's syndrome \| 1 C0162674 \| progressive external ophthalmoplegia \| 1 C0409974 \| lupus erythematosus \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0024214 \| lymphangiectasia \| 1 C0029089 \| ophthalmoplegia \| 1 C1136085 \| monoclonal gammopathy \| 1 C0026848 \| myopathies \| 1 C0026848 \| myopathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:10) 56203 \| LMOD3 \| UniProtKB-KW 7169 \| TPM2 \| GHR;UNIPROT;UniProtKB-KW 1073 \| CFL2 \| GHR;UNIPROT;UniProtKB-KW 84665 \| MYPN \| UniProtKB-KW 58 \| ACTA1 \| GHR;UNIPROT;UniProtKB-KW 7170 \| TPM3 \| GHR;UNIPROT;UniProtKB-KW 10324 \| KLHL41 \| CLINVAR 390594 \| KBTBD13 \| UniProtKB-KW 7138 \| TNNT1 \| GHR;UNIPROT;UniProtKB-KW 4703 \| NEB \| GHR;UNIPROT;UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 7168 \| TPM1 \| CIPHER 7170 \| TPM3 \| CIPHER 7172 \| TPMT \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:41) 58 \| ACTA1 \| 7.004 \| DISEASES 71 \| ACTG1 \| 1.582 \| DISEASES 88 \| ACTN2 \| 3.178 \| DISEASES 93 \| ACVR2B \| 1.752 \| DISEASES 273 \| AMPH \| 1.243 \| DISEASES 27063 \| ANKRD1 \| 2.168 \| DISEASES 9531 \| BAG3 \| 1.4 \| DISEASES 825 \| CAPN3 \| 1.194 \| DISEASES 23607 \| CD2AP \| 2.528 \| DISEASES 1146 \| CHRNG \| 2.546 \| DISEASES 80067 \| DCAF17 \| 2.278 \| DISEASES 1756 \| DMD \| 2.451 \| DISEASES 285489 \| DOK7 \| 1.83 \| DISEASES 8291 \| DYSF \| 1.074 \| DISEASES 2318 \| FLNC \| 1.462 \| DISEASES 2643 \| GCH1 \| 1.047 \| DISEASES 390594 \| KBTBD13 \| 5.92 \| DISEASES 11275 \| KLHL2 \| 3.999 \| DISEASES 3908 \| LAMA2 \| 2.6 \| DISEASES 54900 \| LAX1 \| 1.156 \| DISEASES 442721 \| LMOD2 \| 4.175 \| DISEASES 56203 \| LMOD3 \| 6.153 \| DISEASES 79104 \| MEG8 \| 1.311 \| DISEASES 4534 \| MTM1 \| 3.441 \| DISEASES 4625 \| MYH7 \| 2.582 \| DISEASES 4626 \| MYH8 \| 2.296 \| DISEASES 84700 \| MYO18B \| 3.851 \| DISEASES 93649 \| MYOCD \| 1.509 \| DISEASES 84665 \| MYPN \| 4.296 \| DISEASES 4703 \| NEB \| 7.909 \| DISEASES 91624 \| NEXN \| 2.203 \| DISEASES 23022 \| PALLD \| 1.883 \| DISEASES 5081 \| PAX7 \| 1.145 \| DISEASES 5091 \| PC \| 1.367 \| DISEASES 6261 \| RYR1 \| 4.471 \| DISEASES 7135 \| TNNI1 \| 2.615 \| DISEASES 7138 \| TNNT1 \| 4.962 \| DISEASES 7169 \| TPM2 \| 6.755 \| DISEASES 7170 \| TPM3 \| 6.814 \| DISEASES 7273 \| TTN \| 3.393 \| DISEASES 7791 \| ZYX \| 1.927 \| DISEASES
Locus	(Waiting for update.)

Disease ID	442
Disease	nemaline myopathy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:14) HP:0001324 \| Muscular weakness \| 4 HP:0001644 \| Congestive cardiomyopathy \| 3 HP:0001638 \| Cardiomyopathy \| 3 HP:0002878 \| Respiratory failure \| 2 HP:0001298 \| Encephalopathy \| 1 HP:0003198 \| Myopathic changes \| 1 HP:0001276 \| Hypertonia \| 1 HP:0001645 \| Sudden cardiac death \| 1 HP:0000602 \| Ophthalmoplegia \| 1 HP:0006521 \| Pulmonary lymphangiectasis \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0001558 \| Decreased fetal movement \| 1 HP:0000590 \| Progressive external ophthalmoplegia \| 1 HP:0000544 \| CPEO \| 1

Disease ID	442
Disease	nemaline myopathy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:6) C2364118 \| weakness C1301959 \| bulbar weakness C1145670 \| respiratory failure C0700323 \| neuromuscular blockade C0340425 \| hypertrophic cardiomyopathy C0017168 \| gastroesophageal reflux
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0004093 \| weakness \| 3 C1145670 \| respiratory failure \| 2

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
NEB	p.R2478_D2512del49	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:10)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894129	23689010	7169	TPM2	umls:C0206157	BeFree	The nemaline myopathy-causing E117K mutation in β-tropomyosin reduces thin filament activation.	0.006524536	2013	TPM2	9	35685672	C	T
rs118192170	20888934	6261	RYR1	umls:C0206157	BeFree	De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins.	0.003810118	2011	RYR1	19	38584989	T	C
rs121964852	18300303	7170	TPM3	umls:C0206157	BeFree	We also report a sixth family in which a recurrent TPM3 mutation (p.Arg168His) was associated with histological features of CFTD and nemaline myopathy in different family members.	0.015697478	2008	TPM3	1	154172971	C	T
rs199474714	20012312	7170	TPM3	umls:C0206157	BeFree	We report on the clinical, myopathological and muscle MRI findings in a German family with autosomal dominant NM due to a novel pathogenic TPM3 mutation (p.Ala156Thr).	0.015697478	2010	TPM3	1	154173113	C	T
rs267606626	19553116	58	ACTA1	umls:C0206157	BeFree	Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele.	0.022036449	2009	ACTA1	1	229432788	C	A
rs267606627	19553116	58	ACTA1	umls:C0206157	BeFree	Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele.	0.022036449	2009	ACTA1	1	229432787	G	A
rs397515451	22560515	1073	CFL2	umls:C0206157	BeFree	Because a mutation in CFL2 was identified in a family with nemaline myopathy, we performed sequence analysis of the gene and a novel homozygous missense mutation in exon 2 (c.19G>A, p.Val7Met) of CFL2 was identified in both siblings.	0.001085767	2012	CFL2	14	34713546	C	T
rs397516364	15367485	7168	TPM1	umls:C0206157	BeFree	We have examined endurance exercise as a means of improving recovery following muscle inactivity in our alpha-tropomyosin(slow)(Met9Arg)-transgenic mouse model of nemaline myopathy.	0.006981544	2004	TPM1	15	63042852	T	G
rs397516364	12163017	7168	TPM1	umls:C0206157	BeFree	Expression and biological activity of Baculovirus generated wild-type human slow alpha tropomyosin and the Met9Arg mutant responsible for a dominant form of nemaline myopathy.	0.006981544	2002	TPM1	15	63042852	T	G
rs730882235	NA	10324	KLHL41	umls:C0206157	CLINVAR	NA	0.120271442	NA	KLHL41	2	169510419	A	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	442
Disease	nemaline myopathy
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter