Charcot-Marie-Tooth disease dominant intermediate E
Findings
No curated finding names Charcot-Marie-Tooth disease dominant intermediate E 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 E is characterized by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown.
Definition from the Mondo Disease Ontology (MONDO:0013758), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Progressive · Young adult onset
HPO, annotations 2026-09-02
Features
12 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.
- AreflexiaHPOHP:0001284
- 12 of 12 reported patients
- Axonal lossHPOHP:0003447
- 6 of 6 reported patients
- Distal lower limb amyotrophyHPOHP:0008944
- 12 of 12 reported patients
- Distal muscle weaknessHPOHP:0002460
- 12 of 12 reported patients
- Distal upper limb amyotrophyHPOHP:0007149
- 12 of 12 reported patients
- Onion bulb formationHPOHP:0003383
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.
- INF2HGNC:23791
- Definitive · ClinGen · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: Charcot-Marie-Tooth disease dominant intermediate E
- Also called
- autosomal dominant intermediate Charcot-Marie-Tooth disease type ECharcot-Marie-Tooth disease dominant intermediate type ECharcot-Marie-Tooth disease-nephropathy syndromeCharcot-Marie-Tooth disease, dominant Intermediate type ECharcot-Marie-Tooth neuropathy with focal segmental glomerulonephritisCMTDIE