Details of Disease

General Information of Disease (ID: DIS45SDP)

Disease Name Charcot-Marie-Tooth disease type 4K
Synonyms
Charcot-Marie-Tooth disease, type 4K; Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K; Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K; Charcot-Marie-Tooth disease type 4K; CMT4K; SURF1-related Charcot-Marie-Tooth disease type 4; SURF1-related CMT4; SURF1-related severe demyelinating Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease type 4 caused by mutation in SURF1; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K; autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K; SURF1 Charcot-Marie-Tooth disease type 4; Charcot-Marie-Tooth disease, type 4k
Definition
SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).
Disease Hierarchy
DISM8IZN: Charcot-Marie-Tooth disease type 4
DISK7IP8: Mitochondrial oxidative phosphorylation disorder
DIS45SDP: Charcot-Marie-Tooth disease type 4K
Disease Identifiers
MONDO ID
MONDO_0014733
UMLS CUI
C4225246
OMIM ID
616684
MedGen ID
895560
Orphanet ID
391351
SNOMED CT ID
765047006

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
SURF1 OTAINRSS Strong Autosomal recessive [1]
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References

1 SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. Neurology. 2013 Oct 22;81(17):1523-30. doi: 10.1212/WNL.0b013e3182a4a518. Epub 2013 Sep 11.