PedAM
Pediatric Disease Annotations & Medicines
| hypotonia | ||||
| Disease ID | 1523 |
|---|---|
| Disease | hypotonia |
| Definition | A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching. |
| Synonym | decreased muscle tone decreased muscle tone (finding) hypomyotonia hypotonia, muscle hypotonia, muscular hypotonia, nos hypotonus hypotonus, nos hypotony, muscle loose muscle tone low muscle tone low muscle tones muscle hypotonia muscle hypotonia [disease/finding] muscle hypotonicity muscle hypotony muscle tone poor muscle tone, decreased muscular hypotonia muscular hypotonus poor muscle tone poor muscle tone (finding) tone poor, muscle |
| UMLS | C0026827 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:46) C0035229 | respiratory insufficiency | 3 C0026848 | myopathy | 3 C0025362 | mental retardation | 3 C0025958 | microcephaly | 3 C0004352 | autism | 2 C0442874 | neuropathy | 2 C0878544 | cardiomyopathy | 2 C0751651 | mitochondrial disease | 2 C0028738 | nystagmus | 2 C0017567 | gingival hypertrophy | 2 C0014544 | epileptic seizures | 1 C0270960 | congenital myopathy | 1 C0020619 | hypogonadism | 1 C1956097 | wolf-hirschhorn syndrome | 1 C0020598 | hypoglycemia | 1 C0007194 | hypertrophic cardiomyopathy | 1 C0004134 | ataxia | 1 C0020255 | hydrocephalus | 1 C0014544 | epilepsy | 1 C0034372 | tetraplegia | 1 C0020630 | hypophosphatasia | 1 C0017921 | pompe disease | 1 C0270921 | axonal neuropathy | 1 C0027765 | neurologic disorder | 1 C0175695 | sotos syndrome | 1 C0038379 | squint | 1 C0014544 | epileptic seizure | 1 C0026846 | muscular atrophy | 1 C0085113 | neurofibromatosis | 1 C0086543 | cataracts | 1 C1145670 | respiratory failure | 1 C0011570 | depression | 1 C0006285 | bronchopneumonia | 1 C0035579 | rickets | 1 C0013421 | dystonia | 1 C0030486 | paraplegia | 1 C0036439 | scoliosis | 1 C0026847 | spinal muscular atrophy | 1 C0032046 | placenta previa | 1 C0751651 | mitochondrial diseases | 1 C0006384 | bundle branch block | 1 C0024796 | marfan's syndrome | 1 C0038379 | strabismus | 1 C0027765 | neurological disease | 1 C0013338 | growth hormone deficiency | 1 C0221355 | macrocephaly | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1523 |
|---|---|
| Disease | hypotonia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs141138948 | 23564332 | 51010 | EXOSC3 | umls:C0026827 | BeFree | We identified a homozygous mutation [c.395A > C/p.D132A] in EXOSC3 in four patients with muscle hypotonia, developmental delay, spinal anterior horn involvement, and prolonged survival, consistent with the mild PCH1 phenotype. | 0.000271442 | 2013 | EXOSC3 | 9 | 37783993 | T | G |
| rs151266052 | 22972948 | 6390 | SDHB | umls:C0026827 | BeFree | Here, we report the clinical and molecular investigations of two patients with histochemical and biochemical evidence of a severe, isolated complex II deficiency due to novel SDH gene mutations; the first patient presented with cardiomyopathy and leukodystrophy due to compound heterozygous p.Thr508Ile and p.Ser509Leu SDHA mutations, while the second patient presented with hypotonia and leukodystrophy with elevated brain succinate demonstrated by MR spectroscopy due to a novel, homozygous p.Asp48Val SDHB mutation. | 0.000271442 | 2012 | SDHA | 5 | 240448 | C | T |
| rs151266052 | 22972948 | 6389 | SDHA | umls:C0026827 | BeFree | Here, we report the clinical and molecular investigations of two patients with histochemical and biochemical evidence of a severe, isolated complex II deficiency due to novel SDH gene mutations; the first patient presented with cardiomyopathy and leukodystrophy due to compound heterozygous p.Thr508Ile and p.Ser509Leu SDHA mutations, while the second patient presented with hypotonia and leukodystrophy with elevated brain succinate demonstrated by MR spectroscopy due to a novel, homozygous p.Asp48Val SDHB mutation. | 0.000271442 | 2012 | SDHA | 5 | 240448 | C | T |
| rs202101384 | 22972948 | 6390 | SDHB | umls:C0026827 | BeFree | Here, we report the clinical and molecular investigations of two patients with histochemical and biochemical evidence of a severe, isolated complex II deficiency due to novel SDH gene mutations; the first patient presented with cardiomyopathy and leukodystrophy due to compound heterozygous p.Thr508Ile and p.Ser509Leu SDHA mutations, while the second patient presented with hypotonia and leukodystrophy with elevated brain succinate demonstrated by MR spectroscopy due to a novel, homozygous p.Asp48Val SDHB mutation. | 0.000271442 | 2012 | SDHB | 1 | 17044818 | T | A |
| rs202101384 | 22972948 | 6389 | SDHA | umls:C0026827 | BeFree | Here, we report the clinical and molecular investigations of two patients with histochemical and biochemical evidence of a severe, isolated complex II deficiency due to novel SDH gene mutations; the first patient presented with cardiomyopathy and leukodystrophy due to compound heterozygous p.Thr508Ile and p.Ser509Leu SDHA mutations, while the second patient presented with hypotonia and leukodystrophy with elevated brain succinate demonstrated by MR spectroscopy due to a novel, homozygous p.Asp48Val SDHB mutation. | 0.000271442 | 2012 | SDHB | 1 | 17044818 | T | A |
| rs387906799 | 25253658 | 547 | KIF1A | umls:C0026827 | BeFree | A missense mutation in the KIF1A gene (p.Thr99Met) has been reported in a patient with intellectual disability (ID), axial hypotonia and peripheral spasticity. | 0.000271442 | 2014 | KIF1A | 2 | 240788118 | G | A |
| rs397514541 | 22972948 | 6390 | SDHB | umls:C0026827 | BeFree | Here, we report the clinical and molecular investigations of two patients with histochemical and biochemical evidence of a severe, isolated complex II deficiency due to novel SDH gene mutations; the first patient presented with cardiomyopathy and leukodystrophy due to compound heterozygous p.Thr508Ile and p.Ser509Leu SDHA mutations, while the second patient presented with hypotonia and leukodystrophy with elevated brain succinate demonstrated by MR spectroscopy due to a novel, homozygous p.Asp48Val SDHB mutation. | 0.000271442 | 2012 | SDHA | 5 | 240451 | C | T |
| rs397514541 | 22972948 | 6389 | SDHA | umls:C0026827 | BeFree | Here, we report the clinical and molecular investigations of two patients with histochemical and biochemical evidence of a severe, isolated complex II deficiency due to novel SDH gene mutations; the first patient presented with cardiomyopathy and leukodystrophy due to compound heterozygous p.Thr508Ile and p.Ser509Leu SDHA mutations, while the second patient presented with hypotonia and leukodystrophy with elevated brain succinate demonstrated by MR spectroscopy due to a novel, homozygous p.Asp48Val SDHB mutation. | 0.000271442 | 2012 | SDHA | 5 | 240451 | C | T |
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:11) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0026827 | baclofen | D001418 | 1134-47-0 | muscle hypotonia | MESH:D009123 | marker/mechanism | 12235615 | ||
| C0026827 | baclofen | D001418 | 1134-47-0 | muscle hypotonia | MESH:D009123 | therapeutic | 2303874 | ||
| C0026827 | citalopram | D015283 | 59729-33-8 | muscle hypotonia | MESH:D009123 | marker/mechanism | 20233235 | ||
| C0026827 | clozapine | D003024 | 5786-21-0 | muscle hypotonia | MESH:D009123 | marker/mechanism | 8986312 | ||
| C0026827 | lidocaine | D008012 | 137-58-6 | muscle hypotonia | MESH:D009123 | marker/mechanism | 18406071 | ||
| C0026827 | methotrexate | D008727 | 1959/5/2 | muscle hypotonia | MESH:D009123 | marker/mechanism | 1389541 | ||
| C0026827 | mifepristone | D015735 | 84371-65-3 | muscle hypotonia | MESH:D009123 | marker/mechanism | 18460590 | ||
| C0026827 | morphine | D009020 | 57-27-2 | muscle hypotonia | MESH:D009123 | marker/mechanism | 440871 | ||
| C0026827 | valproic acid | D014635 | 99-66-1 | muscle hypotonia | MESH:D009123 | marker/mechanism | 9243242 | ||
| C0026827 | vincristine | D014750 | - | muscle hypotonia | MESH:D009123 | marker/mechanism | 16609949 | ||
| C0026827 | cholecalciferol | D002762 | 67-97-0 | muscle hypotonia | MESH:D009123 | marker/mechanism | 14968361 | ||
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.) | |