eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| kearns-sayre syndrome | ||||
| Disease ID | 151 |
|---|---|
| Disease | kearns-sayre syndrome |
| Definition | A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984) |
| Synonym | chronic progressive external ophthalmoplegia with myopathy cpeo with myopathies cpeo with myopathy cpeo with ragged red fibers cpeo with ragged-red fibers cytopathy, kearn-sayre mitochondrial kearn sayer syndrome kearn sayers syndrome kearn sayre mitochondrial cytopathy kearn sayre syndrome kearn syndrome kearn-sayre mitochondrial cytopathy kearns sayer syndrome kearns sayers syndrome kearns sayre shy daroff syndrome kearns sayre syndrome kearns syndrome kearns' syndrome kearns-sayer syndrome kearns-sayre mitochondrial cytopathy kearns-sayre syndrome (disorder) kearns-sayre syndrome [disease/finding] kearns-sayre-shy-daroff syndrome kss kss - kearns-sayre syndrome mitochondrial cytopathy, kearn-sayre mitochondrial ocular myopathy myopathies, cpeo with myopathy, cpeo with ocs syndrome oculocraniosomatic dystrophy oculocraniosomatic syndrome oculocraniosomatic syndrome (disorder) oculocraniosomatic syndromes ophthalmoplegia plus syndrome ophthalmoplegia plus syndrome (disorder) ophthalmoplegia plus syndromes ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy ophthalmoplegia, progressive external, with ragged-red fibers ophthalmoplegia-plus syndrome sayre syndrome, kearns syndrome, kearns syndrome, kearns sayre syndrome, kearns' syndrome, kearns-sayre syndrome, kearns-sayre-shy-daroff syndrome, oculocraniosomatic syndrome, ophthalmoplegia plus |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0022541 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:46) 6314 | ATXN7 | 1.542 | DISEASES 7809 | BSND | 2.183 | DISEASES 1122 | CHML | 2.917 | DISEASES 1188 | CLCNKB | 1.932 | DISEASES 1282 | COL4A1 | 1.661 | DISEASES 1431 | CS | 1.801 | DISEASES 6993 | DYNLT1 | 1.934 | DISEASES 63901 | FAM111A | 3.498 | DISEASES 2203 | FBP1 | 2.515 | DISEASES 2271 | FH | 1.486 | DISEASES 2303 | FOXC2 | 1.677 | DISEASES 668 | FOXL2 | 1.37 | DISEASES 3736 | KCNA1 | 1.839 | DISEASES 3766 | KCNJ10 | 1.758 | DISEASES 55605 | KIF21A | 2.168 | DISEASES 3908 | LAMA2 | 1.39 | DISEASES 4099 | MAG | 1.216 | DISEASES 92399 | MRRF | 3.357 | DISEASES 4508 | MT-ATP6 | 3.813 | DISEASES 4509 | MT-ATP8 | 3.348 | DISEASES 4512 | MT-CO1 | 3.197 | DISEASES 4514 | MT-CO3 | 2.506 | DISEASES 4519 | MT-CYB | 3.926 | DISEASES 4537 | MT-ND3 | 3.045 | DISEASES 4538 | MT-ND4 | 4.369 | DISEASES 4539 | MT-ND4L | 2.776 | DISEASES 4540 | MT-ND5 | 4.406 | DISEASES 4541 | MT-ND6 | 3.835 | DISEASES 4549 | MT-RNR1 | 3.366 | DISEASES 4553 | MT-TA | 3.066 | DISEASES 4565 | MT-TI | 3.488 | DISEASES 4566 | MT-TK | 6.655 | DISEASES 4567 | MT-TL1 | 3.147 | DISEASES 4574 | MT-TS1 | 2.917 | DISEASES 5830 | PEX5 | 1.523 | DISEASES 26227 | PHGDH | 1.399 | DISEASES 29944 | PNMA3 | 2.73 | DISEASES 5764 | PTN | 1.519 | DISEASES 26278 | SACS | 1.868 | DISEASES 54938 | SARS2 | 2.165 | DISEASES 6559 | SLC12A3 | 1.288 | DISEASES 6541 | SLC7A1 | 1.784 | DISEASES 6905 | TBCE | 2.033 | DISEASES 54790 | TET2 | 1.836 | DISEASES 7019 | TFAM | 2.317 | DISEASES 140803 | TRPM6 | 2.228 | DISEASES |
| Locus | Symbol | Locus(Total Locus:3) |
| Disease ID | 151 |
|---|---|
| Disease | kearns-sayre syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:35) HP:0008207 | Addison's disease HP:0003200 | Ragged-red muscle fibers HP:0002135 | Basal ganglia calcification HP:0003200 | Ragged-red fibers HP:0000365 | Hearing impairment HP:0001924 | Hypersideremic anemia HP:0000590 | Progressive external ophthalmoplegia HP:0001709 | Complete heart block HP:0004322 | Stature below 3rd percentile HP:0001251 | Ataxia HP:0000580 | Pigmentary retinopathy HP:0001315 | Reduced tendon reflexes HP:0004374 | Hemiplegia/hemiparesis HP:0001250 | Seizures HP:0004622 | Progressive intervertebral space narrowing HP:0000252 | Small head circumference HP:0000763 | Sensory neuropathy HP:0003128 | Lactic acidosis HP:0003457 | EMG abnormality HP:0001709 | Third degree atrioventricular block HP:0000726 | Dementia HP:0001324 | Muscular weakness HP:0001947 | Renal tubular acidosis HP:0007703 | Abnormality of retinal pigmentation HP:0000830 | Anterior hypopituitarism HP:0001638 | Cardiomyopathy HP:0000829 | Hypoparathyroidism HP:0002750 | Delayed skeletal maturation HP:0000819 | Diabetes mellitus HP:0002922 | Increased CSF protein HP:0000407 | sensorineural hearing loss HP:0001994 | 'de toni-fanconi-debre' syndrome HP:0001252 | Muscular hypotonia HP:0000508 | Drooping upper eyelid HP:0003202 | Skeletal muscle atrophy |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0000508 | Drooping upper eyelid | 3 HP:0001250 | Seizures | 1 HP:0000501 | Glaucoma | 1 HP:0001695 | Cardiac arrest | 1 HP:0003689 | Multiple mtDNA deletions | 1 |
| Disease ID | 151 |
|---|---|
| Disease | kearns-sayre syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:22) C2108077 | atrioventricular block C1389280 | basal ganglia calcification C1384672 | hypoparathyroidism C0878544 | cardiomyopathy C0752252 | neuromuscular manifestations C0581883 | total deafness C0410214 | lipid storage myopathy C0205700 | asymmetric septal hypertrophy C0151517 | complete atrioventricular block C0039070 | syncope C0038454 | stroke C0038454 | cerebral infarction C0035334 | retinitis pigmentosa C0035334 | pigmentary retinopathy C0025517 | metabolism disorder C0018801 | cardiac failure C0018794 | heart block C0015624 | fanconi syndrome C0011854 | insulin-dependent diabetes mellitus C0011849 | diabetes mellitus C0007193 | dilated cardiomyopathy C0004775 | bartter syndrome |
| 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:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs118203892 | NA | 4579 | TRNY | umls:C0022541 | CLINVAR | NA | 0.12 | NA | NA | MT | 5885 | T | - |
| rs118203893 | NA | 4579 | TRNY | umls:C0022541 | CLINVAR | NA | 0.12 | NA | NA | MT | 5877 | C | T |
| rs121912438 | 18334481 | 6647 | SOD1 | umls:C0022541 | BeFree | Collectively, these results establish that CCS/G93A SOD1 mice manifest an isolated complex IV deficiency which may underlie a substantial part of mutant SOD1-induced mitochondrial cytopathy. | 0.000271442 | 2008 | SOD1 | 21 | 31667299 | G | C |
| rs199474667 | NA | 4567 | TRNL1 | umls:C0022541 | CLINVAR | NA | 0.12 | NA | NA | MT | 3249 | 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:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000830 | Anterior hypopituitarism | MP:0003348 | hypopituitarism | reduction or cessation of secretion of one or more hormones from the anterior pituitary gland; this may result from ablation, tumors, infarction, or other trauma |
| 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:0001709 | Third degree atrioventricular block | MP:0010412 | atrioventricular septal defect | defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partia |
| HP:0001924 | Sideroblastic anemia | MP:0001577 | anemia | less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs |
| HP:0003202 | Skeletal muscle atrophy | MP:0014068 | abnormal muscle glycogen level | the normal concentration of a readily converted carbohydrate reserve in muscle tissue |
| 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:0001947 | Renal tubular acidosis | MP:0004154 | renal tubular necrosis | morphological changes resulting from pathological death of renal tubular tissue; usually due to irreversible damage |
| HP:0002922 | Increased CSF protein | MP:0008469 | abnormal protein level | anomaly in the amount of any of the macromolecules consisting of long chains of amino acids in peptide linkage |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0008207 | Primary adrenal insufficiency | MP:0011362 | ectopic adrenal gland | an adrenal gland located outside of its normal position |
| 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: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 |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
Mapped by homologous gene(Total Items:32) | ||||
|---|---|---|---|---|
| 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:0001924 | Sideroblastic anemia | MP:0012294 | enhanced active avoidance behavior | enhanced ability to escape a hostile environment to actively avoid the unpleasant or punishing stimuli ( e.g. shock) previously encountered in this environment |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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:0001638 | Cardiomyopathy | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003202 | Skeletal muscle atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0008207 | Primary adrenal insufficiency | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0004374 | Hemiplegia/hemiparesis | 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: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:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000590 | Progressive external ophthalmoplegia | 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:0002135 | Basal ganglia calcification | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0001947 | Renal tubular acidosis | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000580 | Pigmentary retinopathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002922 | Increased CSF protein | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0003457 | EMG abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000726 | Dementia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003200 | Ragged-red muscle fibers | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000829 | Hypoparathyroidism | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001994 | Renal Fanconi syndrome | MP:0013723 | increased circulating tyrosine level | the amount of the amino acid histidine in the blood is more than expected |
| 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:0000830 | Anterior hypopituitarism | 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:0001709 | Third degree atrioventricular block | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0000763 | Sensory neuropathy | 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:0001315 | Reduced tendon reflexes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 151 |
|---|---|
| Disease | kearns-sayre syndrome |
| Case | (Waiting for update.) |