CMTX5
MCID: CHR121
MIFTS: 15

Charcot-Marie-Tooth Neuropathy X Type 5 (CMTX5)

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Neuropathy X Type 5

MalaCards integrated aliases for Charcot-Marie-Tooth Neuropathy X Type 5:

Name: Charcot-Marie-Tooth Neuropathy X Type 5 24 29
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 72
Rosenberg-Chutorian Syndrome 24
Cmtx5 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance is complete for cmtx5.

Classifications:



External Ids:

UMLS 72 C1839566

Summaries for Charcot-Marie-Tooth Neuropathy X Type 5

MalaCards based summary : Charcot-Marie-Tooth Neuropathy X Type 5, also known as charcot-marie-tooth disease, x-linked recessive, 5, is related to charcot-marie-tooth disease, x-linked recessive, 5 and x-linked charcot-marie-tooth disease, and has symptoms including gait ataxia An important gene associated with Charcot-Marie-Tooth Neuropathy X Type 5 is PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1).

GeneReviews: NBK1876

Related Diseases for Charcot-Marie-Tooth Neuropathy X Type 5

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Neuropathy X Type 5:



Diseases related to Charcot-Marie-Tooth Neuropathy X Type 5

Symptoms & Phenotypes for Charcot-Marie-Tooth Neuropathy X Type 5

UMLS symptoms related to Charcot-Marie-Tooth Neuropathy X Type 5:


gait ataxia

Drugs & Therapeutics for Charcot-Marie-Tooth Neuropathy X Type 5

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Neuropathy X Type 5

Genetic Tests for Charcot-Marie-Tooth Neuropathy X Type 5

Genetic tests related to Charcot-Marie-Tooth Neuropathy X Type 5:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy X Type 5 29

Anatomical Context for Charcot-Marie-Tooth Neuropathy X Type 5

Publications for Charcot-Marie-Tooth Neuropathy X Type 5

Articles related to Charcot-Marie-Tooth Neuropathy X Type 5:

(show all 17)
# Title Authors PMID Year
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). 38 4
17701900 2007
2
A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. 4
23297365 2013
3
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. 4
23217327 2012
4
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. 4
20021999 2010
5
Arts syndrome is caused by loss-of-function mutations in PRPS1. 4
17701896 2007
6
Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease. 4
17159110 2006
7
Dramatic reduction in self-injury in Lesch-Nyhan disease following S-adenosylmethionine administration. 4
16906475 2006
8
A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24. 4
15955956 2005
9
Phosphoribosylpyrophosphate synthetase and the regulation of phosphoribosylpyrophosphate production in human cells. 4
11550793 2001
10
Determination of phosphoribosylpyrophosphate synthetase activity in human cells by a non-isotopic, one step method. 4
8646809 1996
11
A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26. 4
8666389 1995
12
X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study. 4
1557086 1992
13
Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. 4
1674639 1991
14
X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder. 4
3856385 1985
15
Familial opticoacoustic nerve degeneration and polyneuropathy. 4
6069085 1967
16
Charcot-Marie-Tooth Neuropathy X Type 5 38
20301731 2008
17
Optic atrophy, sensorineural hearing loss and polyneuropathy--a case of sporadic Rosenberg-Chutorian syndrome. 38
1292972 1992

Variations for Charcot-Marie-Tooth Neuropathy X Type 5

Expression for Charcot-Marie-Tooth Neuropathy X Type 5

Search GEO for disease gene expression data for Charcot-Marie-Tooth Neuropathy X Type 5.

Pathways for Charcot-Marie-Tooth Neuropathy X Type 5

GO Terms for Charcot-Marie-Tooth Neuropathy X Type 5

Sources for Charcot-Marie-Tooth Neuropathy X Type 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....