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Kearns-Sayre syndrome
1 OMIM reference -
3 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 2
Li-Fraumeni syndrome
3 OMIM references -
2 associated genes
16 signs/symptoms
Kearns-Sayre syndrome
Li-Fraumeni syndrome

MT-ATP8
(UniProt - OMIM)
 CHEK2
(UniProt - OMIM)
MT-TL1
(OMIM)
 TP53
(UniProt - OMIM)
RRM2B
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
RRM2B
MT-TL1
(0.87)
(0.63)
TP53
TP53


Citations in the biomedical literature:


Kearns-Sayre syndrome
MT-ATP8 MT-TL1 RRM2B
Li-Fraumeni syndrome
CHEK2 TP53



Kearns-Sayre syndrome
Li-Fraumeni syndrome

Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: young adult
Type of inheritance: mitochondrial inheritance
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D007625
External references:
3 OMIM references -
1 MeSH reference: D016864
Kearns-Sayre syndrome
Li-Fraumeni syndrome

Very frequent
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Retinitis pigmentosa / retinal pigmentary changes

Frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Areflexia / hyporeflexia
- Ataxia / incoordination / trouble of the equilibrium
- Hearing loss / hypoacusia / deafness
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Hypotonia
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Short stature / dwarfism / nanism

Occasional
- Delayed bone age
- Hemiplegia / diplegia / hemiparesia / limb palsy


Very frequent
- Acute leukemia
- Autosomal dominant inheritance
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Breast neoplasm / tumor / carcinoma / cancer
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Colon neoplasm / tumor / carcinoma / cancer
- Cortical adrenal neoplasm / tumor / carcinoma / cancer
- Lymphoma
- Neoplasms / tumors
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Sarcoma
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma

Occasional
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Melanoma
- Oropharyngeal neoplasm / tumor / carcinoma / cancer