eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| mitochondrial myopathy and sideroblastic anemia | ||||
| Disease ID | 1841 |
|---|---|
| Disease | mitochondrial myopathy and sideroblastic anemia |
| Synonym | mlasa mlasa1 myopathy with lactic acidosis and sideroblastic anemia myopathy, lactic acidosis, and sideroblastic anemia 1 |
| Orphanet | |
| OMIM | |
| UMLS | C1838103 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1841 |
|---|---|
| Disease | mitochondrial myopathy and sideroblastic anemia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:19) HP:0000347 | Micrognathia HP:0009055 | Generalized limb muscle atrophy HP:0003128 | Lactic acidosis HP:0003196 | Short nose HP:0002650 | Scoliosis HP:0000252 | Microcephaly HP:0003457 | EMG abnormality HP:0000343 | Long philtrum HP:0009743 | Distichiasis HP:0002808 | Kyphosis HP:0003198 | Myopathy HP:0003737 | Mitochondrial myopathy HP:0000823 | Delayed puberty HP:0000218 | High palate HP:0000501 | Glaucoma HP:0001252 | Muscular hypotonia HP:0001903 | Anemia HP:0001939 | Abnormality of metabolism/homeostasis HP:0001249 | Intellectual disability |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0001903 | Anemia | 1 HP:0001941 | acidemia | 1 HP:0003128 | Lactic acidosis | 1 HP:0001924 | Hypersideremic anemia | 1 |
| Disease ID | 1841 |
|---|---|
| Disease | mitochondrial myopathy and sideroblastic anemia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894371 | NA | 80324 | PUS1 | umls:C1838103 | CLINVAR | NA | 0.481085767 | NA | PUS1 | 12 | 131932301 | C | T |
| rs104894372 | NA | 80324 | PUS1 | umls:C1838103 | CLINVAR | NA | 0.481085767 | NA | PUS1 | 12 | 131941405 | G | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003128 | Lactic acidosis | MP:0003031 | acidosis | a pathological state characterized by an increase in the hydrogen ion concentration in tissues and blood caused by an decrease in the concentration of alkaline compounds, or by a increase in the concentration of acidic compounds or carbon dioxide to the b |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0003737 | Mitochondrial myopathy | MP:0000751 | myopathy | any abnormal condition or disease of the skeletal muscle |
| HP:0003196 | Short nose | MP:0002233 | abnormal nose morphology | any structural anomaly of the organ that is specialized for smell and is part of the respiratory system |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
Mapped by homologous gene(Total Items:18) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003457 | EMG abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000343 | Long philtrum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003198 | Myopathy | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000501 | Glaucoma | 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:0009743 | Distichiasis | MP:0011509 | dilated glomerular capillary | stretched or widened aperture of the luminal space of the small branching blood vessel in the kidney glomerulus that receives blood from the kidney afferent arteriole |
| 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:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003128 | Lactic acidosis | 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:0000252 | Microcephaly | 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:0003196 | Short nose | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003737 | Mitochondrial myopathy | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| Disease ID | 1841 |
|---|---|
| Disease | mitochondrial myopathy and sideroblastic anemia |
| Case | (Waiting for update.) |