Details of Disease

General Information of Disease (ID: DISGT6JW)

Disease Name Charcot-Marie-Tooth disease X-linked recessive 4
Synonyms
neuropathy, axonal motor-sensory with deafness and intellectual disability; neuropathy, axonal motor-sensory with deafness and mental retardation; neuropathy, axonal motor-sensory, with deafness and intellectual disability; neuropathy, axonal motor-sensory, with deafness and mental retardation; axonal motor sensory neuropathy with deafness and mental retardation; CMTX 4; Charcot-Marie-Tooth disease, X-linked recessive, 4; cowchock syndrome; Charcot-Marie-Tooth disease with deafness and mental retardation; COWCK; NADMR; Charcot-Marie-Tooth disease X-linked recessive type 4; X-linked Charcot-Marie-Tooth disease type 4; Charcot-Marie-Tooth disease with deafness and intellectual disability; axonal motor sensory neuropathy with deafness and intellectual disability; CMT4X; Cowchock syndrome, X-linked recessive; NAMSD; CMTX4
Definition
X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.
Disease Hierarchy
DISVGD01: Charcot-Marie-Tooth disease type X
DISGT6JW: Charcot-Marie-Tooth disease X-linked recessive 4
Disease Identifiers
MONDO ID
MONDO_0010689
MESH ID
C536450
UMLS CUI
C0795910
OMIM ID
310490
MedGen ID
162891
Orphanet ID
101078
SNOMED CT ID
763400005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AIFM1 OTKPWB7Q Strong X-linked [1]
------------------------------------------------------------------------------------

References

1 Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. Am J Hum Genet. 2012 Dec 7;91(6):1095-102. doi: 10.1016/j.ajhg.2012.10.008.