ODCs

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1 OMIM reference -
1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
8 signs/symptoms

X-linked Charcot-Marie-Tooth disease type 1

Hereditary cerebral hemorrhage with amyloidosis, Dutch type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GJB1	(0.56)	APP

Citations in the biomedical literature:

X-linked Charcot-Marie-Tooth disease type 1		Hereditary cerebral hemorrhage with amyloidosis, Dutch type
	Synonym(s): - CMT1X - CMTX1		Synonym(s): - HCHWA, Dutch type - HCHWA-D

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: - Average age onset: childhood Average age of death: - Type of inheritance: x-linked dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: adult Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535919		External references: 1 OMIM reference - 2 MeSH references: C537944 / D028243

X-linked Charcot-Marie-Tooth disease type 1		Hereditary cerebral hemorrhage with amyloidosis, Dutch type
	Very frequent - Areflexia / hyporeflexia - Flat palm - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Nerve conduction abnormality - Peripheral neuropathy - Pes cavus - Sensitive trouble / deficit - X-linked dominant inheritance Frequent - Insensitivity to pain - Motor deficit / trouble Occasional - Abnormal gait - Ataxia / incoordination / trouble of the equilibrium - Elocution disorders / dysarthria / dysphonia - Hearing loss / hypoacusia / deafness - Hemiplegia / diplegia / hemiparesia / limb palsy - Kyphosis - Scoliosis - Somnolence / hypersomnia / parasomnia - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tremor		Very frequent - Facial pain / cephalalgia / migraine - Intracranial / cerebral / meningeal hemorrhage - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline Frequent - Intracranial / cerebral calcifications - Seizures / epilepsy / absences / spasms / status epilepticus - Transient cerebral ischemia / stroke Occasional - Early death / lethality