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	congenital myopathy

Disease ID	1273
Disease	congenital myopathy
Definition	Congenital myopathy is a very broad term for any muscle disorder present at birth. This defect primarily affects skeletal muscle fibres and causes muscular weakness and/or hypotonia. Congenital myopathies account for one of the top neuromuscular disorders in the world today, comprising approximately 6 in 100,000 live births every year.[1] As a whole, congenital myopathies can be broadly classified as follows: - Wikipedia Reference: https://en.wikipedia.org/wiki/congenital myopathy
Synonym	congenital myopathies congenital myopathy (disorder) congenital myopathy, nos myopathies congenital myopathy congenital
Orphanet	ORPHANET:97245
DOID	DOID:0080100
ICD10	ICD10CM:G71.2
UMLS	C0270960
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:16) C0026848 \| myopathy \| 3 C0206157 \| nemaline myopathy \| 3 C0024591 \| malignant hyperthermia \| 2 C0026848 \| muscular diseases \| 1 C0034072 \| cor pulmonale \| 1 C0878544 \| cardiomyopathy \| 1 C0751951 \| central core disease \| 1 C0005745 \| ptosis \| 1 C0029089 \| ophthalmoplegia \| 1 C0010691 \| cystinuria \| 1 C0026848 \| muscular disorders \| 1 C0036439 \| scoliosis \| 1 C0027868 \| neuromuscular disorders \| 1 C0026848 \| myopathies \| 1 C0027868 \| neuromuscular diseases \| 1 C0027868 \| neuromuscular disease \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:74) 58 \| ACTA1 \| 5.883 \| DISEASES 93 \| ACVR2B \| 1.591 \| DISEASES 10555 \| AGPAT2 \| 1.325 \| DISEASES 273 \| AMPH \| 2.687 \| DISEASES 287 \| ANK2 \| 1.889 \| DISEASES 27063 \| ANKRD1 \| 2.185 \| DISEASES 487 \| ATP2A1 \| 1.883 \| DISEASES 23299 \| BICD2 \| 2.579 \| DISEASES 26580 \| BSCL2 \| 1.121 \| DISEASES 779 \| CACNA1S \| 2.505 \| DISEASES 825 \| CAPN3 \| 1.121 \| DISEASES 859 \| CAV3 \| 2.061 \| DISEASES 23607 \| CD2AP \| 1.477 \| DISEASES 55636 \| CHD7 \| 1.974 \| DISEASES 387836 \| CLEC2A \| 1.278 \| DISEASES 1272 \| CNTN1 \| 2.947 \| DISEASES 1291 \| COL6A1 \| 2.996 \| DISEASES 8292 \| COLQ \| 2.062 \| DISEASES 1756 \| DMD \| 3.328 \| DISEASES 1760 \| DMPK \| 1.849 \| DISEASES 1785 \| DNM2 \| 4.49 \| DISEASES 285489 \| DOK7 \| 3.65 \| DISEASES 1798 \| DPAGT1 \| 2.814 \| DISEASES 1837 \| DTNA \| 1.883 \| DISEASES 1778 \| DYNC1H1 \| 2.157 \| DISEASES 8291 \| DYSF \| 2.549 \| DISEASES 2318 \| FLNC \| 1.98 \| DISEASES 2596 \| GAP43 \| 1.884 \| DISEASES 2632 \| GBE1 \| 2.855 \| DISEASES 3679 \| ITGA7 \| 4.245 \| DISEASES 11275 \| KLHL2 \| 2.924 \| DISEASES 339855 \| KY \| 4.283 \| DISEASES 3908 \| LAMA2 \| 2.887 \| DISEASES 54900 \| LAX1 \| 1.083 \| DISEASES 11155 \| LDB3 \| 1.949 \| DISEASES 4000 \| LMNA \| 1.397 \| DISEASES 56203 \| LMOD3 \| 4.864 \| DISEASES 79104 \| MEG8 \| 1.239 \| DISEASES 4534 \| MTM1 \| 6.37 \| DISEASES 8898 \| MTMR2 \| 1.875 \| DISEASES 4624 \| MYH6 \| 2.284 \| DISEASES 4625 \| MYH7 \| 4.166 \| DISEASES 84665 \| MYPN \| 2.677 \| DISEASES 4703 \| NEB \| 5.979 \| DISEASES 84876 \| ORAI1 \| 2.941 \| DISEASES 80228 \| ORAI2 \| 2.687 \| DISEASES 93129 \| ORAI3 \| 2.491 \| DISEASES 23022 \| PALLD \| 1.811 \| DISEASES 5081 \| PAX7 \| 2.59 \| DISEASES 118425 \| PCAT4 \| 1.693 \| DISEASES 5213 \| PFKM \| 1.486 \| DISEASES 5350 \| PLN \| 2.385 \| DISEASES 284119 \| PTRF \| 1.694 \| DISEASES 6194 \| RPS6 \| 1.019 \| DISEASES 6261 \| RYR1 \| 6.984 \| DISEASES 6329 \| SCN4A \| 3.937 \| DISEASES 79048 \| SECISBP2 \| 2.189 \| DISEASES 6444 \| SGCD \| 1.304 \| DISEASES 23347 \| SMCHD1 \| 2.367 \| DISEASES 6606 \| SMN1 \| 1.561 \| DISEASES 6607 \| SMN2 \| 1.64 \| DISEASES 6645 \| SNTB2 \| 2.927 \| DISEASES 246329 \| STAC3 \| 1.898 \| DISEASES 57620 \| STIM2 \| 2.14 \| DISEASES 8803 \| SUCLA2 \| 2.018 \| DISEASES 7135 \| TNNI1 \| 2.543 \| DISEASES 7138 \| TNNT1 \| 2.896 \| DISEASES 7169 \| TPM2 \| 6.331 \| DISEASES 7170 \| TPM3 \| 5.96 \| DISEASES 10345 \| TRDN \| 2.778 \| DISEASES 22954 \| TRIM32 \| 1.906 \| DISEASES 7273 \| TTN \| 1.816 \| DISEASES 10269 \| ZMPSTE24 \| 1.706 \| DISEASES 7791 \| ZYX \| 1.855 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1273
Disease	congenital myopathy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:18) HP:0003687 \| Central nuclei \| 3 HP:0003198 \| Myopathic changes \| 3 HP:0002047 \| Malignant hyperthermia \| 3 HP:0001324 \| Muscular weakness \| 3 HP:0003798 \| Nemaline rods \| 2 HP:0002650 \| Scoliosis \| 1 HP:0001252 \| Hypotonia \| 1 HP:0001270 \| Motor retardation \| 1 HP:0003131 \| Cystinuria \| 1 HP:0003473 \| Fatigable weakness \| 1 HP:0009113 \| Diaphragmatic weakness \| 1 HP:0002791 \| Under breathing \| 1 HP:0000508 \| Drooping upper eyelid \| 1 HP:0002094 \| Dyspnea \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0000602 \| Ophthalmoplegia \| 1 HP:0001284 \| Areflexia \| 1 HP:0001945 \| Fever \| 1

Disease ID	1273
Disease	congenital myopathy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C0343087 \| acroangiodermatitis C0162292 \| external ophthalmoplegia C0037315 \| sleep-disordered breathing
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0343087 \| acroangiodermatitis \| 1

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

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

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121434589	15605950	4620	MYH2	umls:C0270960	BeFree	A heterozygous mutation, Glu706Lys, in the core of the head of MyHC IIa is associated with a familial congenital myopathy, which, in most instances, has shown mild phenotypic expression in children but progressive course in some adults.	0.000542884	2004	MYH2;MYHAS	17	10535137	C	T
rs137853306	18420702	7169	TPM2	umls:C0270960	BeFree	A novel E41K beta-tropomyosin (beta-Tm) mutation, associated with congenital myopathy and muscle weakness, was recently identified in a woman and her daughter.	0.002442977	2008	TPM2	9	35689265	C	T
rs28933098	15605950	4625	MYH7	umls:C0270960	BeFree	A heterozygous mutation, Arg1845Trp, in the distal rod region of slow myosin (type I, MYH7) is associated with familial congenital myopathy, with large deposits of MyHC I in the subsarcolemmal region of type 1 muscle fibres, Myosin storage myopathy.	0.000542884	2004	MYH7;MHRT	14	23415021	G	T,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	1273
Disease	congenital myopathy
Case	(Waiting for update.)

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