MCID: CHR571
MIFTS: 23

Charcot-Marie-Tooth Disease Type 5

Categories: Ear diseases, Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease Type 5

MalaCards integrated aliases for Charcot-Marie-Tooth Disease Type 5:

Name: Charcot-Marie-Tooth Disease Type 5 12 29 6 15
Hereditary Motor and Sensory Neuropathy with Pyramidal Features 12

Classifications:



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Disease Ontology 12 DOID:0080067

Summaries for Charcot-Marie-Tooth Disease Type 5

Disease Ontology : 12 A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait.

MalaCards based summary : Charcot-Marie-Tooth Disease Type 5, also known as hereditary motor and sensory neuropathy with pyramidal features, is related to charcot-marie-tooth disease, x-linked recessive, 5 and arts syndrome. An important gene associated with Charcot-Marie-Tooth Disease Type 5 is DYNC1H1 (Dynein Cytoplasmic 1 Heavy Chain 1), and among its related pathways/superpathways is Pentose phosphate pathway. Affiliated tissues include eye.

Related Diseases for Charcot-Marie-Tooth Disease Type 5

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate a
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Recessive Intermediate B Charcot-Marie-Tooth Disease, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2a Charcot-Marie-Tooth Disease Type 2a2b
Charcot-Marie-Tooth Disease Type 1g Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Dnajb2-Related Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Diseases related to Charcot-Marie-Tooth Disease Type 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, x-linked recessive, 5 31.8 PRPS1L1 PRPS1 MSMB
2 arts syndrome 29.6 PRPS1L1 PRPS1 MSMB
3 tooth disease 29.5 PRX PRPS1 GARS1 DYNC1H1
4 neuropathy 29.5 PRX PRPS1 GARS1 DYNC1H1
5 charcot-marie-tooth disease 28.6 PRX PRPS1L1 PRPS1 PLD3 GARS1 DYNC1H1
6 3-methylglutaconic aciduria, type iii 10.2
7 branchiootic syndrome 1 10.2
8 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
9 sensorineural hearing loss 10.2
10 peripheral nervous system disease 10.2
11 x-linked charcot-marie-tooth disease 10.2
12 spinal muscular atrophy with lower extremity predominance 10.1 GARS1 DYNC1H1
13 charcot-marie-tooth disease, axonal, type 2i 10.0 PRX GARS1
14 charcot-marie-tooth disease, demyelinating, type 1d 10.0 PRX GARS1
15 spinocerebellar ataxia 46 10.0 PRX PLD3
16 charcot-marie-tooth disease, x-linked dominant, 1 10.0 PRX GARS1
17 charcot-marie-tooth disease, type 4a 10.0 PRX GARS1
18 charcot-marie-tooth disease, demyelinating, type 1b 10.0 PRX GARS1
19 charcot-marie-tooth disease, demyelinating, type 4f 10.0 PRX PLD3
20 neuropathy, hereditary, with liability to pressure palsies 10.0 PRX GARS1
21 charcot-marie-tooth disease, demyelinating, type 1c 10.0 PRX GARS1
22 charcot-marie-tooth disease, type 4b2 9.9 PRX GARS1
23 motor peripheral neuropathy 9.9 GARS1 DYNC1H1
24 charcot-marie-tooth disease, x-linked recessive, 2 9.9 PRPS1 DYNC1H1
25 hypertrophic neuropathy of dejerine-sottas 9.8 PRX GARS1
26 deafness, x-linked 3 9.8 PRPS1L1 PRPS1
27 deafness, x-linked 6 9.8 PRPS1L1 PRPS1
28 deafness, x-linked 4 9.8 PRPS1L1 PRPS1
29 purine-pyrimidine metabolic disorder 9.7 PRPS1L1 PRPS1
30 x-linked nonsyndromic deafness 9.7 PRPS1L1 PRPS1
31 deafness, x-linked 5, with peripheral neuropathy 9.7 PRPS1L1 PRPS1
32 brown-vialetto-van laere syndrome 9.7 PRPS1L1 PRPS1
33 charcot-marie-tooth disease and deafness 9.7 PRX GARS1
34 deafness, x-linked 2 9.7 PRPS1L1 PRPS1
35 opitz-kaveggia syndrome 9.7 PRPS1L1 PRPS1
36 lesch-nyhan syndrome 9.6 PRPS1L1 PRPS1
37 charcot-marie-tooth disease, axonal, type 2e 9.6 PRX PRPS1L1 GARS1
38 charcot-marie-tooth disease type x 9.6 PRPS1L1 PRPS1 GARS1
39 deafness, x-linked 1 9.5 PRPS1L1 PRPS1 MSMB
40 phosphoribosylpyrophosphate synthetase superactivity 9.5 PRPS1L1 PRPS1 MSMB
41 neuromuscular disease 9.4 PRX PRPS1 GARS1 DYNC1H1
42 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.1 PRX PRPS1L1 PRPS1 GARS1 DYNC1H1

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



Diseases related to Charcot-Marie-Tooth Disease Type 5

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease Type 5

Drugs & Therapeutics for Charcot-Marie-Tooth Disease Type 5

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

Genetic Tests for Charcot-Marie-Tooth Disease Type 5

Genetic tests related to Charcot-Marie-Tooth Disease Type 5:

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

Anatomical Context for Charcot-Marie-Tooth Disease Type 5

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease Type 5:

40
Eye

Publications for Charcot-Marie-Tooth Disease Type 5

Articles related to Charcot-Marie-Tooth Disease Type 5:

# Title Authors PMID Year
1
Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene. 61
33294372 2020
2
X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness. 61
30177296 2019
3
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation. 61
24528855 2014
4
Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy. 61
24285972 2013

Variations for Charcot-Marie-Tooth Disease Type 5

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease Type 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DYNC1H1 NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly) SNV Uncertain significance 694849 rs201272954 GRCh37: 14:102483555-102483555
GRCh38: 14:102017218-102017218
2 PLD3 , PRX NM_181882.3(PRX):c.4059_4061GGA[6] (p.Glu1361del) Microsatellite Uncertain significance 215547 rs139624657 GRCh37: 19:40900180-40900182
GRCh38: 19:40394273-40394275
3 GARS1 NM_002047.4(GARS1):c.1809+10_1809+12del Microsatellite Uncertain significance 694994 rs747338292 GRCh37: 7:30668290-30668292
GRCh38: 7:30628674-30628676

Expression for Charcot-Marie-Tooth Disease Type 5

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

Pathways for Charcot-Marie-Tooth Disease Type 5

GO Terms for Charcot-Marie-Tooth Disease Type 5

Cellular components related to Charcot-Marie-Tooth Disease Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribose phosphate diphosphokinase complex GO:0002189 8.62 PRPS1L1 PRPS1

Biological processes related to Charcot-Marie-Tooth Disease Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoside metabolic process GO:0009116 9.37 PRPS1L1 PRPS1
2 purine nucleotide biosynthetic process GO:0006164 9.32 PRPS1L1 PRPS1
3 nucleotide biosynthetic process GO:0009165 9.26 PRPS1L1 PRPS1
4 ribonucleoside monophosphate biosynthetic process GO:0009156 9.16 PRPS1L1 PRPS1
5 5-phosphoribose 1-diphosphate biosynthetic process GO:0006015 8.96 PRPS1L1 PRPS1
6 cellular biosynthetic process GO:0044249 8.62 PRPS1L1 PRPS1

Molecular functions related to Charcot-Marie-Tooth Disease Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.26 PRPS1L1 PRPS1 GARS1 DYNC1H1
2 ribose phosphate diphosphokinase activity GO:0004749 8.62 PRPS1L1 PRPS1

Sources for Charcot-Marie-Tooth Disease Type 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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