eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| gne myopathy | ||||
| Disease ID | 1437 |
|---|---|
| Disease | gne myopathy |
| Synonym | distal myopathy with rimmed vacuoles distal myopathy, nonaka type dmrv hereditary inclusion body myopathy hibm ibm2 ibm2, formerly inclusion body myopathy 2 inclusion body myopathy 2 (disorder) inclusion body myopathy 2, autosomal recessive, formerly inclusion body myopathy, hereditary, autosomal recessive myopathy, distal, with or without rimmed vacuoles myopathy, distal, with rimmed vacuoles nonaka distal myopathy nonaka myopathy qsm quadricep sparing inclusion body myopathy rimmed vacuole myopathy |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1853926 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0751336 | distal myopathy | 26 C0026848 | myopathy | 23 C0029401 | paget disease of bone | 4 C0029401 | paget disease | 4 C0029401 | paget's disease of bone | 1 C0002736 | amyotrophic lateral sclerosis | 1 C0029401 | paget's disease | 1 |
| 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:2) |
| Disease ID | 1437 |
|---|---|
| Disease | gne myopathy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:33) HP:0003691 | Scapular winging HP:0100284 | EMG: myotonic discharges HP:0010628 | Facial palsy HP:0100299 | Muscle fiber inclusion bodies HP:0003791 | Deposits immunoreactive to beta-amyloid protein HP:0007210 | Lower limb amyotrophy HP:0007340 | Lower limb muscle weakness HP:0012515 | Hip flexor weakness HP:0001436 | Abnormality of the foot musculature HP:0002460 | Weakness of distal muscles HP:0008180 | Mildly elevated creatine phosphokinase HP:0003724 | Shoulder girdle muscle atrophy HP:0003376 | Steppage gait HP:0003547 | Shoulder girdle muscle weakness HP:0001288 | Gait disturbance HP:0003236 | Elevated creatine kinase HP:0003693 | Muscle atrophy, distal HP:0003805 | Rimmed vacuoles HP:0009027 | Foot dorsiflexor weakness HP:0040047 | Abnormality of the right hemidiaphragm HP:0008963 | Tibialis muscle weakness HP:0003458 | EMG: myopathic abnormalities HP:0006251 | Limited wrist extension HP:0001638 | Cardiomyopathy HP:0001324 | Muscle weakness HP:0012548 | Fatty replacement of skeletal muscle HP:0003438 | Absent Achilles reflex HP:0003731 | Quadriceps muscle weakness HP:0009077 | Weakness of long finger extensor muscles HP:0006467 | Limited shoulder movement HP:0000821 | Hypothyroidism HP:0003557 | Increased variability in muscle fiber diameter HP:0030007 | EMG: positive sharp waves |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0003198 | Myopathic changes | 25 HP:0001324 | Muscular weakness | 2 HP:0003805 | Rimmed vacuoles | 2 HP:0001371 | Flexion contractures of joints | 1 HP:0007354 | Amyotrophic lateral sclerosis | 1 HP:0001905 | thrombocytopenia, congenital | 1 HP:0002803 | Congenital joint contractures | 1 HP:0012345 | Abnormal glycosylation | 1 |
| Disease ID | 1437 |
|---|---|
| Disease | gne myopathy |
| 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:20) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908625 | NA | 10020 | GNE | umls:C1853926 | CLINVAR | NA | 0.496286512 | NA | GNE | 9 | 36219927 | C | T |
| rs121908626 | NA | 10020 | GNE | umls:C1853926 | CLINVAR | NA | 0.496286512 | NA | GNE | 9 | 36218225 | C | T |
| rs121908627 | NA | 10020 | GNE | umls:C1853926 | CLINVAR | NA | 0.496286512 | NA | GNE | 9 | 36217448 | C | T,A |
| rs121908628 | NA | 10020 | GNE | umls:C1853926 | CLINVAR | NA | 0.496286512 | NA | GNE | 9 | 36233993 | A | T |
| rs121908629 | NA | 10020 | GNE | umls:C1853926 | CLINVAR | NA | 0.496286512 | NA | GNE | 9 | 36236864 | C | T |
| rs121908630 | NA | 10020 | GNE | umls:C1853926 | CLINVAR | NA | 0.496286512 | NA | GNE | 9 | 36236928 | C | T |
| rs121908631 | NA | 10020 | GNE | umls:C1853926 | CLINVAR | NA | 0.496286512 | NA | GNE | 9 | 36223405 | G | A |
| rs121908632 | 11916006 | 10020 | GNE | umls:C1853926 | UNIPROT | Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). | 0.496286512 | 2002 | GNE | 9 | 36219940 | C | G |
| rs121908632 | NA | 10020 | GNE | umls:C1853926 | CLINVAR | NA | 0.496286512 | NA | GNE | 9 | 36219940 | C | G |
| rs121908632 | 16503389 | 10020 | GNE | umls:C1853926 | BeFree | The identification of a homozygous c. 1714G>C (p. V572L) mutation in the GNE gene genetically confirmed the diagnosis of DMRV, which is thought to be identical to hereditary inclusion body myopathy (HIBM). | 0.496286512 | 2006 | GNE | 9 | 36219940 | C | G |
| rs121908633 | NA | 10020 | GNE | umls:C1853926 | CLINVAR | NA | 0.496286512 | NA | NA | NA | NA | NA | NA |
| rs121908634 | NA | 10020 | GNE | umls:C1853926 | CLINVAR | NA | 0.496286512 | NA | GNE | 9 | 36246136 | T | C |
| rs139425890 | 12473753 | 10020 | GNE | umls:C1853926 | UNIPROT | The loss-of-function mutations in the GNE gene appear to cause DMRV/HIBM. | 0.496286512 | 2002 | GNE | 9 | 36246120 | T | A |
| rs139425890 | 17704511 | 10020 | GNE | umls:C1853926 | BeFree | A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. | 0.496286512 | 2007 | GNE | 9 | 36246120 | T | A |
| rs28937594 | NA | 10020 | GNE | umls:C1853926 | CLINVAR | NA | 0.496286512 | NA | GNE | 9 | 36217399 | A | G |
| rs28937594 | 15147877 | 10020 | GNE | umls:C1853926 | BeFree | The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy. | 0.496286512 | 2004 | GNE | 9 | 36217399 | A | G |
| rs28937594 | 15670773 | 10020 | GNE | umls:C1853926 | BeFree | No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation. | 0.496286512 | 2005 | GNE | 9 | 36217399 | A | G |
| rs28937594 | 18723858 | 10020 | GNE | umls:C1853926 | BeFree | To elucidate the pathological mechanisms leading from the mutated GNE to the HIBM phenotype, we attempted to identify and characterize early occurring downstream events by analyzing the genomic expression patterns of muscle specimens from 10 HIBM patients carrying the M712T Persian Jewish founder mutation and presenting mild histological changes, compared with 10 healthy matched control individuals, using GeneChip expression microarrays. | 0.496286512 | 2008 | GNE | 9 | 36217399 | A | G |
| rs62541771 | NA | 10020 | GNE | umls:C1853926 | CLINVAR | NA | 0.496286512 | NA | GNE | 9 | 36218224 | G | A |
| rs779694939 | NA | 10020 | GNE | umls:C1853926 | CLINVAR | NA | 0.496286512 | NA | GNE | 9 | 36236954 | 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:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003791 | Deposits immunoreactive to beta-amyloid protein | MP:0002962 | increased urine protein level | greater than the normal amount of proteins in the urine |
| HP:0003724 | Shoulder girdle muscle atrophy | MP:0013239 | impaired skeletal muscle regeneration | reduced ability to repair skeletal muscle after injury or disease |
| HP:0003557 | Increased variability in muscle fiber diameter | MP:0013237 | abnormal skeletal muscle regeneration | anomaly in the ability to repair skeletal muscle after injury or disease |
| HP:0009027 | Foot dorsiflexor weakness | MP:0000748 | progressive muscle weakness | increasing loss of muscle strength over time |
| 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 |
| HP:0003376 | Steppage gait | MP:0001406 | abnormal gait | abnormal pattern of movement of the limbs of animals, characterized by elements of progression, stability, speed and length over the ground |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0003731 | Quadriceps muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0007210 | Lower limb amyotrophy | MP:0004263 | abnormal limb posture | atypical intentionally or habitually assumed position of the limbs compared to the normal carriage of the body |
| HP:0003547 | Shoulder girdle muscle weakness | MP:0000748 | progressive muscle weakness | increasing loss of muscle strength over time |
| HP:0012548 | Fatty replacement of skeletal muscle | MP:0009403 | increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
| HP:0007340 | Lower limb muscle weakness | MP:0000748 | progressive muscle weakness | increasing loss of muscle strength over time |
| HP:0002460 | Distal muscle weakness | MP:0000748 | progressive muscle weakness | increasing loss of muscle strength over time |
| HP:0100299 | Muscle fiber inclusion bodies | MP:0009413 | skeletal muscle fiber atrophy | acquired diminution of the size of skeletal muscle fibers associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or |
| HP:0008180 | Mildly elevated creatine phosphokinase | MP:0010090 | increased circulating creatine kinase level | an elevation in the concentration in the blood of an 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:0003724 | Shoulder girdle muscle atrophy | MP:0013239 | impaired skeletal muscle regeneration | reduced ability to repair skeletal muscle after injury or disease |
| HP:0003691 | Scapular winging | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003547 | Shoulder girdle muscle weakness | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003376 | Steppage gait | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0006467 | Limited shoulder movement | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0003458 | EMG: myopathic abnormalities | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001638 | Cardiomyopathy | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003731 | Quadriceps muscle weakness | MP:0013239 | impaired skeletal muscle regeneration | reduced ability to repair skeletal muscle after injury or disease |
| HP:0003791 | Deposits immunoreactive to beta-amyloid protein | MP:0011501 | increased glomerular capsule space | increased volume of the luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries |
| HP:0009027 | Foot dorsiflexor weakness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000821 | Hypothyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| 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:0003438 | Absent Achilles reflex | MP:0013438 | dysmyelination | reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin |
| HP:0012548 | Fatty replacement of skeletal muscle | MP:0011904 | abnormal Schwann cell physiology | any functional anomaly of the cells which form the insulating myelin sheaths of peripheral axons |
| HP:0007340 | Lower limb muscle weakness | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| 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:0007210 | Lower limb amyotrophy | 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:0003557 | Increased variability in muscle fiber diameter | 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:0008180 | Mildly elevated creatine phosphokinase | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003693 | Distal amyotrophy | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003805 | Rimmed vacuoles | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0100299 | Muscle fiber inclusion bodies | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0010628 | Facial palsy | MP:0020240 | increased skeletal muscle cell apoptosis | increase in the number of skeletal muscle cells undergoing programmed cell death |
| HP:0002460 | Distal muscle weakness | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 1437 |
|---|---|
| Disease | gne myopathy |
| Case | (Waiting for update.) |