Kearns-sayre syndrome

Preferred Label : Kearns-sayre syndrome;

Symbol : KSS;

CISMeF acronym : KSS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cpeo with ragged-red fibers; Ophthalmoplegia, progressive external, with ragged-red fibers; Oculocraniosomatic syndrome; Mitochondrial cytopathy; Chronic progressive external ophthalmoplegia with myopathy; Cpeo with myopathy; Ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy; Ophthalmoplegia-plus syndrome;

Inheritance : Mitochondrial;

Molecular basis : Caused by mutation in the mitochondrial tRNA (leucine)-1 gene (MTTL1, 590050.0011); Caused by deletion of multiple genes in the mitochondrial DNA;

Laboratory abnormalities : Decreased serum and muscle coenzyme Q; Lactic acidosis; Decreased cerebrospinal fluid folic acid; Mitochondrial DNA deletions; Increased cerebrospinal fluid (CSF) protein ( 100mg/dl);

Prefixed ID : #530000;

Details

Origin ID

530000;

UMLS CUI

C0022541;

Automatic exact mappings (from CISMeF team)
- Kearns-Sayre syndrome [DO Concept]
- Kearns-Sayre syndrome [ICD-11 More detail]
- Kearns-Sayre syndrome [HGNC gene]
- Mitochondrial cytopathy [MedDRA Preferred Term]
- Mitochondrial cytopathy [MeSH concept]
- Mitochondrial cytopathy (disorder) [SNOMED CT concept]
- Mitochondrial myopathy [MedDRA Preferred Term]
- Oculocraniosomatic syndrome (disorder) [Inactive SNOMED CT concept]
- mitochondrial cytopathy [MeSH Supplementary Concept]
- mitochondrial myopathy [DO Concept]
- oculocraniosomatic syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- Kearns-Sayre Syndrome [NCIt concept]
- Kearns-Sayre syndrome [PASCAL descriptor]
- Kearns-Sayre syndrome [Disease (Nov.)]
- Kearns-Sayre syndrome [MedDRA Preferred Term]
- Kearns-Sayre syndrome [MeSH Descriptor]
- Kearns-Sayre syndrome [MeSH concept]
- Kearns-Sayre syndrome [ORDO Disease]
- Kearns-Sayre syndrome (disorder) [SNOMED CT concept]
- Ophthalmoplegia plus syndrome (disorder) [SNOMED CT concept]
- Other paralytic strabismus [ICD-10 Sub-category]
- Other paralytic strabismus [ICD-10 Sub-category (who)]
- ophthalmoplegia plus syndrome [SNOMED Notion]
DO Cross reference
- Kearns-Sayre syndrome [DO Concept]
HPO term(s)
- Addison disease [HPO term]
- Arrhythmia [HPO term]
- Ataxia [HPO term]
- Basal ganglia calcification [HPO term]
- Cardiomyopathy [HPO term]
- Dementia [HPO term]
- Diabetes mellitus [HPO term]
- Hypoparathyroidism [HPO term]
- Increased CSF protein [HPO term]
- Lactic acidosis [HPO term]
- Microcephaly [HPO term]
- Mitochondrial inheritance [HPO term]
- Muscle weakness [HPO term]
- Pigmentary retinopathy [HPO term]
- Primary adrenal insufficiency [HPO term]
- Progressive external ophthalmoplegia [HPO term]
- Ptosis [HPO term]
- Ragged-red muscle fibers [HPO term]
- Renal Fanconi syndrome [HPO term]
- Renal tubular acidosis [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sensory neuropathy [HPO term]
- Short stature [HPO term]
- Sideroblastic anemia [HPO term]
- Third degree atrioventricular block [HPO term]
- Usually autosomal dominant [HPO term]
ORDO concept(s)
- Kearns-Sayre syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kearns-Sayre Syndrome [NCIt concept]
- Kearns-Sayre syndrome [MedDRA Preferred Term]
- Kearns-Sayre syndrome [ORDO Disease]
- Kearns-Sayre syndrome [MeSH Descriptor]
- Kearns-Sayre syndrome [MeSH concept]
- Kearns-Sayre syndrome [DO Concept]
- Kearns-Sayre syndrome [Disease (Nov.)]
- Kearns-Sayre syndrome (disorder) [SNOMED CT concept]
- Oculocraniosomatic syndrome (disorder) [Inactive SNOMED CT concept]
- Ophthalmoplegia plus syndrome (disorder) [SNOMED CT concept]
- Other paralytic strabismus [ICD-10 Sub-category (who)]
- oculocraniosomatic syndrome [SNOMED Notion]
- ophthalmoplegia plus syndrome [SNOMED Notion]

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