Charcot-Marie-Tooth disease dominant intermediate D
Findings
No curated finding names Charcot-Marie-Tooth disease dominant intermediate D yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.
Definition from the Mondo Disease Ontology (MONDO:0011909), read 2026-09-29. CC BY 4.0.
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.
- MPZHGNC:7225
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: Charcot-Marie-Tooth disease dominant intermediate D
- Also called
- autosomal dominant intermediate Charcot-Marie-Tooth disease type DCharcot-Marie-Tooth disease caused by mutation in MPZCharcot-Marie-Tooth disease dominant intermediate type DCharcot-Marie-Tooth disease, dominant Intermediate type DCMTDIDDI-CMTDMPZ Charcot-Marie-Tooth disease