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X-linked Charcot-Marie-Tooth disease type 1
1 OMIM reference -
1 associated gene
28 connected diseases
21 signs/symptoms
Disease Type of connection
X-linked progressive cerebellar ataxia
Congenital intrauterine infection-like syndrome
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Heritable pulmonary arterial hypertension
Lethal acantholytic epidermolysis bullosa
Limited cutaneous systemic sclerosis
Naxos disease
Hereditary combined deficiency of vitamin K-dependent clotting factors
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Hypotrichosis-deafness syndrome
KID syndrome
Keratoderma hereditarium mutilans
Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Palmoplantar keratoderma-deafness syndrome
Porokeratotic eccrine ostial and dermal duct nevus
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Catecholaminergic polymorphic ventricular tachycardia
Synonym(s):
- CMT1X
- CMTX1
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked dominant
External references:
1 OMIM reference -
1 MeSH reference: C535919
Gene symbol UniProt reference OMIM reference
GJB1 P08034304040
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