PedAM
Pediatric Disease Annotations & Medicines
| hypertonia | ||||
| Disease ID | 1830 |
|---|---|
| Disease | hypertonia |
| Definition | Abnormal increase in skeletal or smooth muscle tone. Skeletal muscle hypertonicity may be associated with PYRAMIDAL TRACT lesions or BASAL GANGLIA DISEASES. |
| Synonym | high muscle tone high muscles tone hypermyotonia hypermyotonias hypertonia, muscle hypertonia, nos hypertonias, muscle hypertonicities, muscular hypertonicity hypertonicity, muscular hypertonus increased muscle tone increased muscle tone (finding) increased tone increased, muscle tone muscle hypertonia muscle hypertonia [disease/finding] muscle hypertonias muscle hypertonicity muscle tight muscle tone increased muscles tight muscular hypertonicities muscular hypertonicity muscular hypertonicity (disorder) muscular hypertonus muscular tone excessive muscular tone increased scottie cramp tight muscle tone increased, muscle |
| UMLS | C0026826 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:12) C0007789 | cerebral palsy | 4 C0026848 | myopathy | 1 C0004096 | asthma | 1 C0025362 | mental retardation | 1 C0030567 | parkinson's disease | 1 C0004096 | bronchial asthma | 1 C0206157 | nemaline myopathy | 1 C0018991 | hemiplegia | 1 C0037928 | myelopathy | 1 C0032914 | preeclampsia | 1 C0034372 | quadriplegia | 1 C0013421 | dystonia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1830 |
|---|---|
| Disease | hypertonia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:26) HP:0100021 | Cerebral palsy | 4 HP:0001252 | Hypotonia | 3 HP:0002063 | Muscle rigidity | 3 HP:0001263 | Developmental retardation | 2 HP:0008936 | Truncal hypotonia | 2 HP:0002459 | Dysautonomia | 2 HP:0002104 | Absence of spontaneous respiration | 2 HP:0100602 | Pre-eclampsia | 1 HP:0001249 | Mental retardation | 1 HP:0001270 | Motor retardation | 1 HP:0001297 | Cerebral vascular events | 1 HP:0002445 | Paralysis of all four limbs | 1 HP:0002301 | Hemiplegia | 1 HP:0001336 | Myoclonic jerks | 1 HP:0003198 | Myopathic changes | 1 HP:0002396 | Cogwheel rigidity | 1 HP:0001332 | Dystonia | 1 HP:0001662 | Bradycardia | 1 HP:0000961 | Cyanosis | 1 HP:0006801 | Brisk deep tendon reflexes | 1 HP:0012390 | Anal fissure | 1 HP:0007185 | Loss of consciousness | 1 HP:0002067 | Bradykinesia | 1 HP:0001269 | Hemiparesis | 1 HP:0002099 | Asthma | 1 HP:0002196 | Myelopathy | 1 |
| Disease ID | 1830 |
|---|---|
| Disease | hypertonia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs80338792 | 23958773 | 6329 | SCN4A | umls:C0026826 | BeFree | The diagnostic sequence in both patients was the same: first, severe episodic apneic attacks necessitating hospitalization occurring in the first week of life; second, observation of muscle hypertrophy and peripheral hypertonia with a clear myotonic pattern on electromyogram (at 14 and 3 months of age, respectively); third, genetic testing revealing de novo SCN4A G1306E mutation. | 0.000271442 | 2013 | SCN4A | 17 | 63943846 | C | T,G,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) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:12) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0026826 | amitriptyline | D000639 | 50-48-6 | muscle hypertonia | MESH:D009122 | marker/mechanism | 7775702 | ||
| C0026826 | baclofen | D001418 | 1134-47-0 | muscle hypertonia | MESH:D009122 | therapeutic | 4266642 | ||
| C0026826 | droperidol | D004329 | 548-73-2 | muscle hypertonia | MESH:D009122 | marker/mechanism | 12378031 | ||
| C0026826 | enalapril | D004656 | 75847-73-3 | muscle hypertonia | MESH:D009122 | marker/mechanism | 2404862 | ||
| C0026826 | haloperidol | D006220 | 52-86-8 | muscle hypertonia | MESH:D009122 | marker/mechanism | 10847307 | ||
| C0026826 | mifepristone | D015735 | 84371-65-3 | muscle hypertonia | MESH:D009122 | marker/mechanism | 11435005 | ||
| C0026826 | morphine | D009020 | 57-27-2 | muscle hypertonia | MESH:D009122 | marker/mechanism | 6110016 | ||
| C0026826 | olanzapine | C076029 | 132539-06-1 | muscle hypertonia | MESH:D009122 | marker/mechanism | 10847307 | ||
| C0026826 | phenytoin | D010672 | 57-41-0 | muscle hypertonia | MESH:D009122 | marker/mechanism | 3994321 | ||
| C0026826 | prochlorperazine | D011346 | 58-38-8 | muscle hypertonia | MESH:D009122 | marker/mechanism | 216517 | ||
| C0026826 | succinylcholine | D013390 | 306-40-1 | muscle hypertonia | MESH:D009122 | marker/mechanism | 7171420 | ||
| C0026826 | sulpiride | D013469 | 15676-16-1 | muscle hypertonia | MESH:D009122 | marker/mechanism | 6110016 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |