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Ataxia-telangiectasia

2 OMIM references -
1 associated gene
39 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Kearns-Sayre syndrome

1 OMIM reference -
3 associated genes
14 signs/symptoms

Ataxia-telangiectasia

Kearns-Sayre syndrome

ATM	(UniProt - OMIM)		MT-ATP8	(UniProt - OMIM)
			MT-TL1	(OMIM)
			RRM2B	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ATM	(0.72)	RRM2B

Citations in the biomedical literature:

Ataxia-telangiectasia		Kearns-Sayre syndrome
	Synonym(s): - Louis-Bar syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare immune disease - Rare neurologic disease - Rare oncologic disease - Rare skin disease		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 (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the eye and adnexa -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: adult Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: young adult Type of inheritance: mitochondrial inheritance

	External references: 2 OMIM references - 1 MeSH reference: D001260		External references: 1 OMIM reference - 1 MeSH reference: D007625


COMMON SIGNS	- Ataxia / incoordination / trouble of the equilibrium - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Short stature / dwarfism / nanism

Ataxia-telangiectasia		Kearns-Sayre syndrome
	Very frequent - Abnormal eye movements / oculomotor disorder - Abnormal gait - Abnormal hepatic enzymes / transaminases - Abnormal / polycystic ovaries - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Anomalies of skin, subcutaneous tissue and mucosae - Anomalies of the immunitary system - Autosomal recessive inheritance - Chromosome breakage - Immunodeficiency / increased susceptibility to infections / recurrent infections - Late puberty / hypogonadism / hypogenitalism - Lymphopenia - Movement disorder - Nystagmus - Premature ageing - Premature greying of hair - Repeat respiratory infections - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Strabismus / squint - T-cell deficiency / cellular immunity deficiency - Telangiectasiae of mucosae - Telangiectasiae of the skin - Thymic aplasia / hypoplasia - Tremor Frequent - Albinism (hair) - Diabetes mellitus - Elocution disorders / dysarthria / dysphonia - Hypertonia / spasticity / rigidity / stiffness - Neoplasms / tumors - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Cafe-au-lait spot - Failure to thrive / difficulties for feeding in infancy / growth delay - Insulin-independent / type 2 diabetes - Intellectual deficit / mental / psychomotor retardation / learning disability - Skin hypoplasia / aplasia / atrophy - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia		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 - Hearing loss / hypoacusia / deafness - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Hypotonia Occasional - Delayed bone age - Hemiplegia / diplegia / hemiparesia / limb palsy