eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| myotonia permanens | ||||
| Disease ID | 1719 |
|---|---|
| Disease | myotonia permanens |
| Definition | A group of autosomal dominant inherited non-dystrophic myotonias caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. They are characterized by muscle stiffness, which worsens by ingestion of potassium-rich food. This group includes myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia. |
| Synonym | acetazolamide responsive myotonia congenita myotonia congenita, acetazolamide-responsive myotonia congenita, atypical myotonia permanens (disorder) myotonia, potassium-aggravated potassium aggravated myotonia potassium aggravated myotonia (disorder) potassium-aggravated myotonia sodium channel myotonia |
| Orphanet | |
| OMIM | |
| UMLS | C2931826 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) SCN4A | 17q23.3 |
| Disease ID | 1719 |
|---|---|
| Disease | myotonia permanens |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:27) HP:0002094 | Dyspnea HP:0002015 | Dysphagia HP:0003552 | Muscle stiffness HP:0004322 | Short stature HP:0001376 | Limitation of joint mobility HP:0002099 | Asthma HP:0000602 | Ophthalmoplegia HP:0005949 | Apneic episodes in infancy HP:0003326 | Muscle pain HP:0003720 | Generalized muscle hypertrophy HP:0003326 | Myalgia HP:0003307 | Hyperlordosis HP:0003712 | Skeletal muscle hypertrophy HP:0003394 | Muscle cramps HP:0003712 | Hypertrophic muscles HP:0001276 | Hypertonia HP:0000286 | Epicanthus HP:0010307 | Stridor HP:0001288 | Gait disturbance HP:0003236 | Elevated creatine kinase HP:0001608 | Abnormality of the voice HP:0003457 | EMG abnormality HP:0002486 | Myotonia HP:0000597 | Ophthalmoparesis HP:0001249 | Intellectual disability HP:0001324 | Muscle weakness HP:0100749 | Chest pain |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1719 |
|---|---|
| Disease | myotonia permanens |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total 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 | 16832098 | 6329 | SCN4A | umls:C2931826 | BeFree | Myotonia permanens is associated with a G1306E mutation in the SCN4A gene. | 0.362442977 | 2006 | 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:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003712 | Skeletal muscle hypertrophy | MP:0011774 | abnormal urinary bladder detrusor smooth muscle morphology | any structural anomaly of the bundles of smooth muscle fibers forming the muscular wall of the urinary bladder, which are arranged in a longitudinal and a circular layer and, on contraction, serve to expel urine |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0001376 | Limitation of joint mobility | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0001608 | Abnormality of the voice | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0003236 | Elevated serum creatine phosphokinase | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
Mapped by homologous gene(Total Items:25) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000602 | Ophthalmoplegia | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0003307 | Hyperlordosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003712 | Skeletal muscle hypertrophy | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0003394 | Muscle cramps | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000597 | Ophthalmoparesis | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0001376 | Limitation of joint mobility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002094 | Dyspnea | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0010307 | Stridor | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002099 | Asthma | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003236 | Elevated serum creatine phosphokinase | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001276 | Hypertonia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001608 | Abnormality of the voice | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000286 | Epicanthus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002486 | Myotonia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003457 | EMG abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100749 | Chest pain | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003720 | Generalized muscle hypertrophy | MP:0012157 | rostral body truncation | rostral part of body truncated; typically with the caudal portion of the body relatively normal |
| HP:0005949 | Apneic episodes in infancy | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0003552 | Muscle stiffness | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| Disease ID | 1719 |
|---|---|
| Disease | myotonia permanens |
| Case | (Waiting for update.) |