ODCs

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1 OMIM reference -
1 associated gene
22 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

1 OMIM reference -
1 associated gene
15 signs/symptoms

X-linked Charcot-Marie-Tooth disease type 5

Phosphoribosylpyrophosphate synthetase superactivity

Citations in the biomedical literature:

X-linked Charcot-Marie-Tooth disease type 5		Phosphoribosylpyrophosphate synthetase superactivity
	Synonym(s): - CMT5X - CMTX5		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare eye disease - 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): - Diseases of the nervous system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - 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 - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - X-linked recessive inheritance

X-linked Charcot-Marie-Tooth disease type 5		Phosphoribosylpyrophosphate synthetase superactivity
	Very frequent - Areflexia / hyporeflexia - Flat palm - Hearing loss / hypoacusia / deafness - Muscle weakness / flaccidity - Nerve conduction abnormality - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Peripheral neuropathy - Pes cavus - Sensitive trouble / deficit Frequent - Insensitivity to pain - Motor deficit / trouble Occasional - Abnormal gait - Elocution disorders / dysarthria / dysphonia - Hemiplegia / diplegia / hemiparesia / limb palsy - Kyphosis - Scoliosis - Somnolence / hypersomnia / parasomnia - Tremor		Very frequent - Hyperuricemia - Sensorineural deafness / hearing loss Frequent - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Renal failure Occasional - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Cardiomyopathy / hypertrophic / dilated - Chronic arterial hypertension - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Strabismus / squint