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Autosomal dominant Charcot-Marie-Tooth disease type 2N
1 OMIM reference -
1 associated gene
16 connected diseases
No signs/symptoms info
Disease Type of connection
Fibronectin glomerulopathy
Acute promyelocytic leukemia
Estrogen resistance syndrome
Idiopathic pulmonary fibrosis
Laron syndrome with immunodeficiency
Richieri Costa-Pereira syndrome
Acute infantile liver failure-multisystemic involvement syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Distal hereditary motor neuropathy type 5
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
X-linked distal arthrogryposis multiplex congenita
Autosomal recessive nonsyndromic intellectual deficit
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Dubowitz syndrome
Familial thoracic aortic aneurysm and aortic dissection
Moyamoya disease
Synonym(s):
- CMT2N

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
AARS P49588601065
No signs/symptoms info available.