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encyclopedia of Rare Disease Annotation for Precision Medicine



   dystrophy, myotonic
  

Disease ID 655
Disease dystrophy, myotonic
Definition
Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.
Synonym
atrophica, myotonia
atrophicas, myotonia
curschmann-batten-steinert syndrome
disease steinerts
disease, steinert
disease, steinert's
dm - dystrophia myotonica
dystrophia myotonica
dystrophia myotonica 1
dystrophia myotonicas
dystrophica, myotonia
dystrophicas, myotonia
dystrophies, myotonic
dystrophy muscular myotonic
dystrophy myotonic
dystrophy, steinert myotonic
muscular dystrophy myotonic
myotonia atrophica
myotonia atrophicas
myotonia dystrophica
myotonia dystrophicas
myotonic dystrophies
myotonic dystrophy
myotonic dystrophy 1
myotonic dystrophy [disease/finding]
myotonic dystrophy, steinert
myotonic musclr dystrphy
myotonic muscular dystrophy
myotonica, dystrophia
myotonicas, dystrophia
steinert dis
steinert disease
steinert myotonic dystrophy
steinert myotonic dystrophy syndrome
steinert myotonic dystrophy syndrome (disorder)
steinert syndrome
steinert's disease
steinerts dis
steinerts disease
syndrome steinert
Orphanet
OMIM
DOID
ICD10
UMLS
C0027126
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:42)
C0086543  |  cataract  |  3
C0851578  |  sleep disorders  |  2
C0948265  |  metabolic syndrome  |  2
C0031117  |  peripheral neuropathy  |  2
C0878544  |  cardiomyopathy  |  2
C0442874  |  neuropathy  |  2
C0018799  |  cardiac disease  |  2
C0011570  |  depression  |  2
C0040053  |  thrombus  |  1
C0010036  |  corneal dystrophy  |  1
C0026846  |  muscle atrophy  |  1
C0020179  |  huntington's disease  |  1
C0032290  |  aspiration pneumonia  |  1
C0086543  |  cataracts  |  1
C0027868  |  neuromuscular disease  |  1
C0035229  |  respiratory insufficiency  |  1
C0027765  |  neurological disorder  |  1
C0027868  |  neuromuscular diseases  |  1
C0014859  |  esophageal cancer  |  1
C0026848  |  myopathies  |  1
C0009241  |  cognitive disorders  |  1
C0040100  |  thymoma  |  1
C0037317  |  sleep disturbance  |  1
C1142166  |  brugada syndrome  |  1
C0221060  |  moebius syndrome  |  1
C0221002  |  primary hyperparathyroidism  |  1
C0023895  |  liver disease  |  1
C0037317  |  sleep disturbances  |  1
C0028754  |  adiposity  |  1
C0014544  |  epilepsy  |  1
C0005750  |  bacterial overgrowth syndrome  |  1
C0007193  |  dilated cardiomyopathy  |  1
C0020550  |  hyperthyroidism  |  1
C0018801  |  heart failure  |  1
C0242350  |  erectile dysfunction  |  1
C0042075  |  urological disorders  |  1
C0026848  |  muscular diseases  |  1
C0027765  |  neurological disorders  |  1
C0032285  |  pneumonia  |  1
C0031538  |  phimosis  |  1
C0152020  |  gastroparesis  |  1
C0020502  |  hyperparathyroidism  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:3)
1482  |  NKX2-5  |  CTD_human
1760  |  DMPK  |  CLINVAR;CTD_human;UNIPROT
7555  |  CNBP  |  CTD_human;UNIPROT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:5)
1636  |  ACE  |  CIPHER
1180  |  CLCN1  |  CIPHER
1760  |  DMPK  |  CIPHER;CTD_human
1482  |  NKX2-5  |  CTD_human
7555  |  CNBP  |  CTD_human
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 655
Disease dystrophy, myotonic
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:55)
HP:0003202  |  Neurogenic muscle atrophy, especially in the lower limbs  |  4
HP:0001324  |  Muscular weakness  |  3
HP:0002486  |  Myotonia  |  3
HP:0000518  |  Cataract  |  3
HP:0002015  |  Swallowing difficulty  |  3
HP:0001638  |  Cardiomyopathy  |  3
HP:0011675  |  Arrhythmias  |  3
HP:0001644  |  Congestive cardiomyopathy  |  2
HP:0001762  |  Talipes equinovarus  |  2
HP:0100543  |  Cognitive deficits  |  2
HP:0012531  |  Pain  |  2
HP:0009830  |  Peripheral neuritis  |  2
HP:0002360  |  Sleep disturbance  |  2
HP:0000716  |  Depression  |  2
HP:0002090  |  Pneumonia  |  1
HP:0012378  |  Fatigue  |  1
HP:0004757  |  Paroxysmal atrial fibrillation  |  1
HP:0001907  |  Thromboembolic disease  |  1
HP:0011947  |  Respiratory infection  |  1
HP:0012899  |  Grip myotonia  |  1
HP:0100786  |  Excessive sleepiness  |  1
HP:0011703  |  Sinus tach  |  1
HP:0002910  |  Elevated transaminases  |  1
HP:0007269  |  Spinal muscle wasting  |  1
HP:0001649  |  Tachycardia  |  1
HP:0000467  |  Neck muscle weakness  |  1
HP:0100522  |  Thymoma  |  1
HP:0001131  |  Corneal dystrophy  |  1
HP:0000802  |  Erectile dysfunction  |  1
HP:0007204  |  Diffuse white matter abnormalities  |  1
HP:0001741  |  Phimosis  |  1
HP:0009027  |  Foot drop  |  1
HP:0030692  |  Brain tumor  |  1
HP:0001635  |  Congestive heart failure  |  1
HP:0001883  |  Talipes  |  1
HP:0002093  |  progressive respiratory failure  |  1
HP:0001279  |  Syncope  |  1
HP:0004315  |  IgG deficiency  |  1
HP:0000836  |  Overactive thyroid  |  1
HP:0002835  |  Aspiration  |  1
HP:0002500  |  Leukoaraiosis  |  1
HP:0011951  |  Aspiration pneumonia  |  1
HP:0010548  |  Transient swelling of muscle induced by percussion  |  1
HP:0000843  |  Hyperparathyroidism  |  1
HP:0001685  |  Myocardial fibrosis  |  1
HP:0005110  |  Atrial fibrillation  |  1
HP:0000741  |  Apathy  |  1
HP:0100014  |  Macular pucker  |  1
HP:0002664  |  Neoplasia  |  1
HP:0010310  |  Chylothorax  |  1
HP:0008200  |  Primary hyperparathyroidism  |  1
HP:0012416  |  Hypercarbia  |  1
HP:0200136  |  Oral-pharyngeal dysphagia  |  1
HP:0002527  |  Falls  |  1
HP:0002578  |  Gastroparesis  |  1
Disease ID 655
Disease dystrophy, myotonic
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:26)
C0011168  |  dysphagia  |  3
C0004093  |  weakness  |  3
C0018799  |  cardiac disease  |  2
C0796095  |  c syndrome  |  2
C0031117  |  peripheral neuropathy  |  2
C0086543  |  cataract  |  2
C0948265  |  metabolic syndrome  |  2
C0234958  |  muscle degeneration  |  2
C0234119  |  neuromuscular block  |  2
C0020550  |  hyperthyroidism  |  1
C0035229  |  respiratory insufficiency  |  1
C0264886  |  cardiac conduction defects  |  1
C0422833  |  ent symptoms  |  1
C0242350  |  erectile dysfunction  |  1
C0267071  |  oropharyngeal dysphagia  |  1
C0040100  |  thymoma  |  1
C0162539  |  igg deficiency  |  1
C0039231  |  tachycardia  |  1
C0015672  |  fatigue  |  1
C0206711  |  pilomatrixomas  |  1
C0020502  |  hyperparathyroidism  |  1
C0917799  |  hypersomnia  |  1
C0221002  |  primary hyperparathyroidism  |  1
C0235394  |  wasting  |  1
C0011570  |  depression  |  1
C0023895  |  liver disease  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:13)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs173811942186801427235COQ2umls:C0027126BeFreeThree previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016).0.0002714422011ATP2B11289617318TC
rs17381194218680141769DNAH8umls:C0027126BeFreeThree previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016).0.0010857672011ATP2B11289617318TC
rs17381194218680141760DMPKumls:C0027126BeFreeThree previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016).0.4447097932011ATP2B11289617318TC
rs1738119421868014490ATP2B1umls:C0027126BeFreeThree previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016).0.0002714422011ATP2B11289617318TC
rs4693570218680141769DNAH8umls:C0027126BeFreeThree previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016).0.0010857672011COQ2483170698TC
rs469357021868014490ATP2B1umls:C0027126BeFreeThree previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016).0.0002714422011COQ2483170698TC
rs4693570218680141760DMPKumls:C0027126BeFreeThree previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016).0.4447097932011COQ2483170698TC
rs46935702186801427235COQ2umls:C0027126BeFreeThree previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016).0.0002714422011COQ2483170698TC
rs6723482186801427235COQ2umls:C0027126BeFreeThree previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016).0.0002714422011DMPK1945781076TG
rs67234821868014490ATP2B1umls:C0027126BeFreeThree previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016).0.0002714422011DMPK1945781076TG
rs672348218680141769DNAH8umls:C0027126BeFreeThree previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016).0.0010857672011DMPK1945781076TG
rs672348218680141760DMPKumls:C0027126BeFreeThree previously hypothesized candidate genes were validated: COQ2 (rs4693570) encoding para-hydroxybenzoate-polyprenyltransferase, which participates in the biosynthesis of coenzyme Q10 (p<0.000041); ATP2B1 (rs17381194) which encodes a calcium transporting ATPase involved in calcium homeostasis (p<0.00079); and DMPK (rs672348) which encodes a protein kinase implicated in myotonic dystrophy (p<0.0016).0.4447097932011DMPK1945781076TG
rs786200945NA1760DMPKumls:C0027126CLINVARNA0.444709793NANANANANANA
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 655
Disease dystrophy, myotonic
Case(Waiting for update.)