PedAM

Pediatric Disease Annotations & Medicines


	kearns-sayre syndrome

Disease ID	81
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	ORPHANET:480
OMIM	OMIM:530000
DOID	DOID:12934
UMLS	C0022541
MeSH	D007625
SNOMED-CT	SNOMEDCT_US_2016_09_01:25792000;SNOMEDCT_US_2016_09_01:51464001;SNOMEDCT_US_2016_09_01:77835008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0005745 \| ptosis \| 3 C0152136 \| normal tension glaucoma \| 1 C0017601 \| glaucoma \| 1 C0011847 \| diabetes \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) IL1B \| 3553 \| CTD_human IL1A \| 3552 \| CTD_human MT-ATP8 \| 4509 \| ORPHANET RRM2B \| 50484 \| ORPHANET MT-TL1 \| 4567 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:77) 4256 \| MGP \| DISEASES 471 \| ATIC \| DISEASES 3630 \| INS \| DISEASES 50484 \| RRM2B \| DISEASES 1890 \| TYMP \| DISEASES 1327 \| COX4I1 \| DISEASES 1160 \| CKMT2 \| DISEASES 10752 \| CHL1 \| DISEASES 27348 \| TOR1B \| DISEASES 10133 \| OPTN \| DISEASES 4924 \| NUCB1 \| DISEASES 3931 \| LCAT \| DISEASES 10686 \| CLDN16 \| DISEASES 10891 \| PPARGC1A \| DISEASES 793 \| CALB1 \| DISEASES 4885 \| NPTX2 \| DISEASES 5428 \| POLG \| DISEASES 6687 \| SPG7 \| DISEASES 10939 \| AFG3L2 \| DISEASES 593 \| BCKDHA \| DISEASES 5860 \| QDPR \| DISEASES 291 \| SLC25A4 \| DISEASES 7203 \| CCT3 \| DISEASES 149461 \| CLDN19 \| DISEASES 7486 \| WRN \| DISEASES 401 \| PHOX2A \| DISEASES 5092 \| PCBD1 \| DISEASES 5354 \| PLP1 \| DISEASES 2548 \| GAA \| DISEASES 2348 \| FOLR1 \| DISEASES 23209 \| MLC1 \| DISEASES 2303 \| FOXC2 \| DISEASES 668 \| FOXL2 \| DISEASES 5764 \| PTN \| DISEASES 1431 \| CS \| DISEASES 92399 \| MRRF \| DISEASES 140803 \| TRPM6 \| DISEASES 4512 \| MT-CO1 \| DISEASES 4519 \| MT-CYB \| DISEASES 4508 \| MT-ATP6 \| DISEASES 4541 \| MT-ND6 \| DISEASES 4539 \| MT-ND4L \| DISEASES 4540 \| MT-ND5 \| DISEASES 55605 \| KIF21A \| DISEASES 4538 \| MT-ND4 \| DISEASES 4514 \| MT-CO3 \| DISEASES 4537 \| MT-ND3 \| DISEASES 63901 \| FAM111A \| DISEASES 4509 \| MT-ATP8 \| DISEASES 1122 \| CHML \| DISEASES 2271 \| FH \| DISEASES 6905 \| TBCE \| DISEASES 6993 \| DYNLT1 \| DISEASES 3766 \| KCNJ10 \| DISEASES 26227 \| PHGDH \| DISEASES 29944 \| PNMA3 \| DISEASES 7809 \| BSND \| DISEASES 2203 \| FBP1 \| DISEASES 1188 \| CLCNKB \| DISEASES 1282 \| COL4A1 \| DISEASES 54790 \| TET2 \| DISEASES 6541 \| SLC7A1 \| DISEASES 26278 \| SACS \| DISEASES 3736 \| KCNA1 \| DISEASES 4099 \| MAG \| DISEASES 6314 \| ATXN7 \| DISEASES 3908 \| LAMA2 \| DISEASES 6559 \| SLC12A3 \| DISEASES 5830 \| PEX5 \| DISEASES 7019 \| TFAM \| DISEASES 54938 \| SARS2 \| DISEASES 4549 \| MT-RNR1 \| DISEASES 4553 \| MT-TA \| DISEASES 4565 \| MT-TI \| DISEASES 4566 \| MT-TK \| DISEASES 4567 \| MT-TL1 \| DISEASES 4574 \| MT-TS1 \| DISEASES
Locus	Symbol \| Locus(Total Locus:3) MT-ATP8 \| mitochondria MT-TL1 \| mitochondria RRM2B \| 8q22.3

Disease ID	81
Disease	kearns-sayre syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:35) HP:0000580 \| Pigmentary retinopathy HP:0004322 \| Stature below 3rd percentile HP:0001315 \| Reduced tendon reflexes HP:0000830 \| Anterior hypopituitarism HP:0003128 \| Lactic acidosis HP:0001324 \| Muscular weakness HP:0004374 \| Hemiplegia/hemiparesis HP:0001251 \| Ataxia HP:0000829 \| Hypoparathyroidism HP:0000819 \| Diabetes mellitus HP:0004622 \| Progressive intervertebral space narrowing HP:0001250 \| Seizures HP:0000252 \| Small head circumference HP:0000407 \| sensorineural hearing loss HP:0000365 \| Hearing impairment HP:0001252 \| Muscular hypotonia HP:0003200 \| Ragged-red muscle fibers HP:0001709 \| Third degree atrioventricular block HP:0000726 \| Dementia HP:0003457 \| EMG abnormality HP:0001924 \| Hypersideremic anemia HP:0001638 \| Cardiomyopathy HP:0001947 \| Renal tubular acidosis HP:0000508 \| Drooping upper eyelid HP:0007703 \| Abnormality of retinal pigmentation HP:0003200 \| Ragged-red fibers HP:0002922 \| Increased CSF protein HP:0000590 \| Progressive external ophthalmoplegia HP:0001994 \| 'de toni-fanconi-debre' syndrome HP:0000763 \| Sensory neuropathy HP:0002750 \| Delayed skeletal maturation HP:0003202 \| Skeletal muscle atrophy HP:0002135 \| Basal ganglia calcification HP:0001709 \| Complete heart block HP:0008207 \| Addison's disease
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0000508 \| Drooping upper eyelid \| 3 HP:0000501 \| Glaucoma \| 1 HP:0001250 \| Seizures \| 1 HP:0003689 \| Multiple mtDNA deletions \| 1 HP:0001695 \| Cardiac arrest \| 1

Disease ID	81
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.)

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:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000830	Anterior hypopituitarism	MP:0003348	hypopituitarism;HP:0007703	Abnormality of retinal pigmentation

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000830	Anterior hypopituitarism	MP:0002798	abnormal active avoidance behavior;HP:0001315	Reduced tendon reflexes

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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