X-linked Charcot-Marie-Tooth disease type 5

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.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(5.0%)		 30177296
 X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness.
Nishikura N, Yamagata T, Morimune T, Matsui J, Sokoda T, Sawai C, Sakaue Y, Higuchi Y, Hashiguchi A, Takashima H, Takeuchi Y, Maruo Y.
Brain Dev. 2019;41(2):201-204.
Sensorineural hearing impairment
Charcot-Marie-Tooth Disease Fever Genetic Diseases, X-Linked Homo sapiens Male Missense Mutation Muscle Weakness Ribose-Phosphate Pyrophosphokinase Sibling
        

Phenotype(s) retrieved from Orphanet

    Total: 19

HPO ID Term Frequency
HP:0000365 Hearing impairment Very frequent (99-80%)
HP:0000648 Optic atrophy Very frequent (99-80%)
HP:0000763 Sensory neuropathy Very frequent (99-80%)
HP:0001284 Areflexia Very frequent (99-80%)
HP:0001324 Muscle weakness Very frequent (99-80%)
HP:0001761 Pes cavus Very frequent (99-80%)
HP:0003712 Skeletal muscle hypertrophy Very frequent (99-80%)
HP:0009830 Peripheral neuropathy Very frequent (99-80%)
HP:0040129 Abnormal nerve conduction velocity Very frequent (99-80%)
HP:0007328 Impaired pain sensation Frequent (79-30%)
HP:0001251 Ataxia Occasional (29-5%)
HP:0001260 Dysarthria Occasional (29-5%)
HP:0001262 Excessive daytime somnolence Occasional (29-5%)
HP:0001288 Gait disturbance Occasional (29-5%)
HP:0001337 Tremor Occasional (29-5%)
HP:0002385 Paraparesis Occasional (29-5%)
HP:0002463 Language impairment Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002808 Kyphosis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0000407 Sensorineural hearing impairment 1
HP:0000648 Optic atrophy 1
HP:0009830 Peripheral neuropathy 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
PRPS1 phosphoribosyl pyrophosphate synthetase 1 5631