ODCs

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1 OMIM reference -
1 associated gene
15 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

1 OMIM reference -
1 associated gene
15 signs/symptoms

Lethal ataxia with deafness and optic atrophy

Phosphoribosylpyrophosphate synthetase superactivity

Citations in the biomedical literature:

Lethal ataxia with deafness and optic atrophy		Phosphoribosylpyrophosphate synthetase superactivity
	Synonym(s): - Arts syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease - Rare renal disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Ataxia / incoordination / trouble of the equilibrium - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Sensorineural deafness / hearing loss

Lethal ataxia with deafness and optic atrophy		Phosphoribosylpyrophosphate synthetase superactivity
	Very frequent - Areflexia / hyporeflexia - Death in infancy - Hemiplegia / diplegia / hemiparesia / limb palsy - Immunodeficiency / increased susceptibility to infections / recurrent infections - Nerve conduction abnormality - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Peripheral neuropathy - Visual loss / blindness / amblyopia Frequent - Muscle weakness / flaccidity - Respiratory distress / dyspnea / respiratory failure / lung volume reduction Occasional - Pancreatic fibrosis		Very frequent - Hyperuricemia - X-linked recessive inheritance Frequent - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Renal failure - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Cardiomyopathy / hypertrophic / dilated - Chronic arterial hypertension - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Strabismus / squint