Charcot-Marie-Tooth disease, demyelinating, IIA 1H
MONDO:0030689Mondo
Findings
No curated finding names Charcot-Marie-Tooth disease, demyelinating, IIA 1H yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
8 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.
- Distal sensory impairmentHPOHP:0002936
- 14 of 14 reported patients
- Distal lower limb amyotrophyHPOHP:0008944
- 11 of 15 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 11 of 15 reported patients
- Distal upper limb amyotrophyHPOHP:0007149
- 10 of 15 reported patients
- Distal upper limb muscle weaknessHPOHP:0008959
- 10 of 15 reported patients
- Absent patellar reflexesHPOHP:0006844
- 6 of 15 reported patients
- Hyperextensible skinHPOHP:0000974
- 4 of 14 reported patients
- Macular degenerationHPOHP:0000608
- 3 of 14 reported patients
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.
- FBLN5HGNC:3602
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
4 names
Resolves to: Charcot-Marie-Tooth disease, demyelinating, IIA 1H
- Also called
- Charcot-Marie-Tooth neuropathy, IIA 1HCMT1Hhereditary motor and sensory neuropathy, 1hneuropathy, hereditary, with or without age-related macular degeneration