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X-linked Charcot-Marie-Tooth disease type 4
1 OMIM reference -
1 associated gene
31 connected diseases
21 signs/symptoms
Disease Type of connection
Severe X-linked mitochondrial encephalomyopathy
Constitutional mismatch repair deficiency syndrome
Hereditary nonpolyposis colon cancer
Non-polyposis Turcot syndrome
Common variable immunodeficiency
Young adult-onset Parkinsonism
Muir-Torre syndrome
X-linked lymphoproliferative disease
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Anaplastic ependymoma
Autosomal recessive spastic paraplegia type 20
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
17q11 microdeletion syndrome
Autoimmune lymphoproliferative syndrome
Autosomal agammaglobulinemia
Autosomal recessive systemic lupus erythematosus
Combined immunodeficiency due to STK4 deficiency
Dedifferentiated liposarcoma
Estrogen resistance syndrome
Familial isolated dilated cardiomyopathy
Glycogen storage disease due to liver phosphorylase kinase deficiency
Lethal congenital contracture syndrome type 2
Muscular dystrophy, Selcen type
Pseudohypoaldosteronism type 2E
Well-differentiated liposarcoma
Hereditary coproporphyria
Synonym(s):
- CMT4X
- CMTX4
- Cowchock syndrome
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: <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
Gene symbol UniProt reference OMIM reference
AIFM1 O95831300169
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 recessive inheritance

Frequent
- Hearing loss / hypoacusia / deafness
- Insensitivity to pain
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Kyphosis
- Motor deficit / trouble
- Scoliosis

Occasional
- Abnormal gait
- Ataxia / incoordination / trouble of the equilibrium
- Elocution disorders / dysarthria / dysphonia
- Somnolence / hypersomnia / parasomnia
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tremor