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Lethal ataxia with deafness and optic atrophy
1 OMIM reference -
1 associated gene
8 connected diseases
15 signs/symptoms
Disease Type of connection
Phosphoribosylpyrophosphate synthetase superactivity
X-linked Charcot-Marie-Tooth disease type 5
X-linked nonsyndromic sensorineural deafness type DFN
17p13.3 microduplication syndrome
Autosomal recessive spastic paraplegia type 21
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Young adult-onset Parkinsonism
Synonym(s):
- Arts syndrome

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

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
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
PRPS1 P60891311850
Very frequent
- Areflexia / hyporeflexia
- Ataxia / incoordination / trouble of the equilibrium
- Death in infancy
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypotonia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Nerve conduction abnormality
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Peripheral neuropathy
- Sensorineural deafness / hearing loss
- Visual loss / blindness / amblyopia

Frequent
- Muscle weakness / flaccidity
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Occasional
- Pancreatic fibrosis