Details of Disease

General Information of Disease (ID: DISTOGMP)

• Disease Name: Charcot-Marie-Tooth disease X-linked recessive 5
• Synonyms: Charcot-Marie-Tooth neuropathy X-linked recessive 5; Charcot-Marie-Tooth disease, X-linked recessive, type 5; Rosenberg Chutorian Syndrome; Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive; optic atrophy, polyneuropathy, and deafness; familial opticoacoustic nerve degeneration and polyneuropathy; CMTX5; CMT5X; X-linked Charcot-Marie-Tooth disease type 5; optic atrophy, sensorineural hearing loss and polyneuropathy; Charcot-Marie-Tooth neuropathy X type 5; Charcot-Marie-Tooth neuropathy, X-linked recessive, 5; Rosenberg-Chutorian syndrome; Charcot-Marie-Tooth disease, X-linked recessive, 5; Charcot-Marie-Tooth disease X-linked recessive type 5
• 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.
• Disease Hierarchy:
  DISQZI8H: Inborn disorder of purine metabolism
  DISVGD01: Charcot-Marie-Tooth disease type X
  DISTOGMP: Charcot-Marie-Tooth disease X-linked recessive 5
• Disease Identifiers:
  MONDO ID: MONDO_0010699
  MESH ID: C537129
  UMLS CUI: C1839566
  OMIM ID: 258650
  MedGen ID: 374254
  Orphanet ID: 99014
  SNOMED CT ID: 763460007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRPS1	OTN3A6CN	Definitive	X-linked recessive	[1]

References

• [1] Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am J Hum Genet. 2007 Sep;81(3):552-8. doi: 10.1086/519529. Epub 2007 Jun 29.