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X-linked Charcot-Marie-Tooth disease type 5
1 OMIM reference -
1 associated gene
8 connected diseases
22 signs/symptoms
Disease Type of connection
Lethal ataxia with deafness and optic atrophy
Phosphoribosylpyrophosphate synthetase superactivity
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):
- CMT5X
- CMTX5
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
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
- Flat palm
- Hearing loss / hypoacusia / deafness
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Nerve conduction abnormality
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Peripheral neuropathy
- Pes cavus
- Sensitive trouble / deficit
- X-linked recessive inheritance

Frequent
- Insensitivity to pain
- Motor deficit / trouble

Occasional
- Abnormal gait
- Ataxia / incoordination / trouble of the equilibrium
- Elocution disorders / dysarthria / dysphonia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Kyphosis
- Scoliosis
- Somnolence / hypersomnia / parasomnia
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tremor