Charcot-Marie-Tooth disease X-linked recessive 5
Findings
No curated finding names Charcot-Marie-Tooth disease X-linked recessive 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.
Definition from the Mondo Disease Ontology (MONDO:0010699), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
24 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.
- Decreased phosphoribosylpyrophosphate synthetase levelHPOHP:0032460
- 3 of 3 reported patients
- Hearing impairmentHPOHP:0000365
- 5 of 5 reported patients · Infantile onset
- Very frequent (80% to 99% of cases)
- Progressive visual lossHPOHP:0000529
- 5 of 5 reported patients · Juvenile onset
- Abnormal nerve conduction velocityHPOHP:0040129
- Very frequent (80% to 99% of cases)
- AreflexiaHPOHP:0001284
- Very frequent (80% to 99% of cases)
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.
- PRPS1HGNC:9462
- Definitive · G2P · X-linked · 2015
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
14 names
Resolves to: Charcot-Marie-Tooth disease X-linked recessive 5
- Also called
- Charcot-Marie-Tooth disease X-linked recessive type 5Charcot-Marie-Tooth disease, X-linked recessive, 5Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessiveCharcot-Marie-Tooth disease, X-linked recessive, type 5Charcot-Marie-Tooth neuropathy X type 5Charcot-Marie-Tooth neuropathy, X-linked recessive, 5CMT5XCMTX5familial opticoacoustic nerve degeneration and polyneuropathyoptic atrophy, polyneuropathy, and deafnessoptic atrophy, sensorineural hearing loss and polyneuropathyRosenberg Chutorian SyndromeRosenberg-Chutorian syndromeX-linked Charcot-Marie-Tooth disease type 5