eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| merrf | ||||
| Disease ID | 453 |
|---|---|
| Disease | merrf |
| Definition | A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986) |
| Synonym | epilepsy fiber myoclonic ragged red epilepsy fibers myoclonic ragged red epilepsy fibers myoclonus ragged red epilepsy fibres myoclonic ragged red fukuhara dis fukuhara disease fukuhara syndrome fukuhara syndrome (disorder) merrf - myoclonic epilepsy - ragged red fibers merrf - myoclonic epilepsy - ragged red fibres merrf syndrome merrf syndrome [disease/finding] myoclonic epilepsy - ragged red fibers myoclonic epilepsy - ragged red fibers (disorder) myoclonic epilepsy - ragged red fibres myoclonic epilepsy and ragged red fibers myoclonic epilepsy associated with ragged red fibers myoclonic epilepsy associated with ragged-red fibers myoclonic epilepsy with ragged red fibers myoclonic epilepsy with ragged-red fibers myoclonus epilepsy and ragged red fibers myoclonus epilepsy and ragged red fibers (disorder) myoclonus epilepsy and ragged red fibres myoclonus with epilepsy and with ragged red fibers (merrf syndrome) myoclonus with epilepsy with ragged red fibers myoencephalopathy ragged red fiber disease myoencephalopathy ragged-red fiber disease syndrome, fukuhara syndrome, merrf |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0162672 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:8) C0014544 | epilepsy | 43 C0023264 | leigh syndrome | 2 C0751785 | unverricht-lundborg disease | 1 C0004134 | ataxia | 1 C0024445 | multiple symmetric lipomatosis | 1 C0023798 | lipoma | 1 C0023801 | lipomatosis | 1 C0751651 | mitochondrial disease | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:16) 197 | AHSG | 1.411 | DISEASES 23607 | CD2AP | 1.451 | DISEASES 55157 | DARS2 | 3.524 | DISEASES 2876 | GPX1 | 1.585 | DISEASES 3316 | HSPB2 | 2.289 | DISEASES 56704 | JPH1 | 3.234 | DISEASES 4312 | MMP1 | 1.733 | DISEASES 4508 | MT-ATP6 | 2.128 | DISEASES 4513 | MT-CO2 | 2.339 | DISEASES 4519 | MT-CYB | 1.764 | DISEASES 4538 | MT-ND4 | 3.022 | DISEASES 4541 | MT-ND6 | 2.114 | DISEASES 4566 | MT-TK | 7.059 | DISEASES 4567 | MT-TL1 | 2.727 | DISEASES 5209 | PFKFB3 | 2.571 | DISEASES 7019 | TFAM | 2.854 | DISEASES |
| Locus | Symbol | Locus(Total Locus:10) |
| Disease ID | 453 |
|---|---|
| Disease | merrf |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:21) HP:0003198 | Myopathic changes HP:0001257 | Spasticity HP:0001250 | Seizures HP:0000407 | Sensorineural hearing impairment HP:0003542 | Increased serum pyruvate HP:0001251 | Ataxia HP:0003200 | Ragged-red fibers HP:0001012 | Multiple lipomas HP:0003200 | Ragged-red muscle fibers HP:0002123 | Myoclonus seizures HP:0100543 | Cognitive impairment HP:0002123 | Generalized myoclonic seizures HP:0003457 | EMG abnormality HP:0004322 | Short stature HP:0100022 | Abnormality of movement HP:0000407 | sensorineural hearing loss HP:0001324 | Muscular weakness HP:0003198 | Myopathy HP:0000648 | Optic atrophy HP:0002151 | Increased serum lactate HP:0001336 | Myoclonic jerks |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0001336 | Myoclonic jerks | 6 HP:0003200 | Ragged-red fibers | 4 HP:0012032 | Lipoma | 1 HP:0001251 | Ataxia | 1 |
| Disease ID | 453 |
|---|---|
| Disease | merrf |
| 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:11) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs118192098 | NA | 4566 | TRNK | umls:C0162672 | CLINVAR | NA | 0.123995683 | NA | NA | MT | 8344 | A | G |
| rs118192099 | NA | 4566 | TRNK | umls:C0162672 | CLINVAR | NA | 0.123995683 | NA | NA | MT | 8356 | T | C |
| rs118192100 | NA | 4566 | TRNK | umls:C0162672 | CLINVAR | NA | 0.123995683 | NA | NA | MT | 8363 | G | A |
| rs118192104 | NA | 4566 | TRNK | umls:C0162672 | CLINVAR | NA | 0.123995683 | NA | NA | MT | 8361 | G | A |
| rs118203886 | NA | 4558 | TRNF | umls:C0162672 | CLINVAR | NA | 0.120271442 | NA | NA | MT | 611 | G | A |
| rs121434468 | NA | 4565 | TRNI | umls:C0162672 | CLINVAR | NA | 0.12 | NA | NA | MT | 4284 | G | A |
| rs199474657 | NA | 4567 | TRNL1 | umls:C0162672 | CLINVAR | NA | 0.122638474 | NA | NA | MT | 3243 | A | G |
| rs199474659 | NA | 4567 | TRNL1 | umls:C0162672 | CLINVAR | NA | 0.122638474 | NA | NA | MT | 3256 | C | T |
| rs199474701 | NA | 4571 | TRNP | umls:C0162672 | CLINVAR | NA | 0.12 | NA | NA | MT | 15967 | G | A |
| rs267606898 | NA | 4540 | ND5 | umls:C0162672 | CLINVAR | NA | 0.12 | NA | ND5 | MT | 13042 | G | A |
| rs797044543 | NA | 4565 | TRNI | umls:C0162672 | CLINVAR | NA | 0.12 | NA | NA | MT | 4279 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002151 | Increased serum lactate | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0002123 | Generalized myoclonic seizures | MP:0009358 | environmentally induced seizures | seizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0100022 | Abnormality of movement | MP:0005223 | abnormal dorsal-ventral polarity of the somites | anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0003200 | Ragged-red muscle fibers | MP:0009417 | skeletal muscle atrophy | acquired diminution of the size of skeletal muscle tissue associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or |
Mapped by homologous gene(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003542 | Increased serum pyruvate | MP:0013508 | increased granulosa cell apoptosis | increase in the timing or the number of granulsa cells undergoing programmed cell death |
| HP:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000407 | Sensorineural hearing impairment | 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:0003457 | EMG abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003198 | Myopathy | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0002123 | Generalized myoclonic seizures | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0001257 | Spasticity | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0003200 | Ragged-red muscle fibers | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0100022 | Abnormality of movement | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000648 | Optic atrophy | 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:0002151 | Increased serum lactate | 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:0001336 | Myoclonus | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001250 | Seizures | 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:0001012 | Multiple lipomas | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| 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:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| Disease ID | 453 |
|---|---|
| Disease | merrf |
| Case | (Waiting for update.) |