Charcot-Marie-Tooth disease type 4K
Findings
No curated finding names Charcot-Marie-Tooth disease type 4K yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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).
Definition from the Mondo Disease Ontology (MONDO:0014733), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- Axonal lossHPOHP:0003447
- DystoniaHPOHP:0001332
- Easy fatigabilityHPOHP:0003388
- Gait disturbanceHPOHP:0001288
- Hearing impairmentHPOHP:0000365
- Horizontal nystagmusHPOHP:0000666
- Increased circulating lactate concentration
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SURF1HGNC:11474
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: Charcot-Marie-Tooth disease type 4K
- Also called
- Charcot-Marie-Tooth disease type 4 caused by mutation in SURF1Charcot-Marie-Tooth disease, type 4kCMT4KSURF1 Charcot-Marie-Tooth disease type 4SURF1-related Charcot-Marie-Tooth disease type 4SURF1-related CMT4SURF1-related severe demyelinating Charcot-Marie-Tooth disease