CMTX6
MCID: CHR505
MIFTS: 39

Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 (CMTX6)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, X-Linked Dominant, 6:

Name: Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 56 52 73 29 6 71
Cmtx6 56 12 52 58 73
X-Linked Charcot-Marie-Tooth Disease Type 6 12 52 58
Cmt6x 12 52 58
Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 6 56 52
Charcot-Marie-Tooth Disease X-Linked Dominant 6 12 15
Charcot-Marie-Tooth Neuropathy X-Linked Dominant 6 12
Charcot-Marie-Tooth Disease, X-Linked, Type 6 39
Charcot-Marie-Tooth Neuropathy X-Linked 6 73

Characteristics:

Orphanet epidemiological data:

58
x-linked charcot-marie-tooth disease type 6
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Miscellaneous:
slowly progressive
males are more severely affected
onset in first decades (males)
patients remain ambulatory
one family has been reported (last curated august 2013)

Inheritance:
x-linked dominant


HPO:

31
charcot-marie-tooth disease, x-linked dominant, 6:
Onset and clinical course slow progression
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110207
OMIM 56 300905
OMIM Phenotypic Series 56 PS118220
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA352675
UMLS 71 C3806702

Summaries for Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

UniProtKB/Swiss-Prot : 73 Charcot-Marie-Tooth disease, X-linked dominant, 6: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy.

MalaCards based summary : Charcot-Marie-Tooth Disease, X-Linked Dominant, 6, also known as cmtx6, is related to tooth disease and x-linked charcot-marie-tooth disease, and has symptoms including tremor of hands An important gene associated with Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 is PDK3 (Pyruvate Dehydrogenase Kinase 3), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Metabolism of nucleotides. Affiliated tissues include eye, and related phenotypes are decreased nerve conduction velocity and pes cavus

Disease Ontology : 12 A Charcot-Marie-Tooth disease X-linked that has material basis in mutation in the PDK3 gene on chromosome Xp22.

More information from OMIM: 300905 PS118220

Related Diseases for Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

Diseases in the Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 family:

Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Charcot-Marie-Tooth Disease X-Linked Recessive 4 X-Linked Charcot-Marie-Tooth Disease

Diseases related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 21, show less)
# Related Disease Score Top Affiliating Genes
1 tooth disease 29.7 PRPS1 PDK3 GJB1
2 x-linked charcot-marie-tooth disease 29.3 PRPS1 PDK3 GJB1
3 charcot-marie-tooth disease 29.0 PRPS1L1 PRPS1 PDK3 GJB1
4 peripheral nervous system disease 10.4
5 neuropathy 10.4
6 charcot-marie-tooth disease, demyelinating, type 1a 10.1
7 axonal neuropathy 10.1
8 charcot-marie-tooth neuropathy x type 1 10.1
9 charcot-marie-tooth neuropathy x type 5 10.1
10 charcot-marie-tooth disease x-linked recessive 4 9.7 PRPS1 GJB1
11 purine nucleoside phosphorylase deficiency 9.5 PRPS2 PRPS1
12 x-linked nonsyndromic deafness 9.5 PRPS1L1 PRPS1
13 purine-pyrimidine metabolic disorder 9.4 PRPS1L1 PRPS1
14 brown-vialetto-van laere syndrome 9.3 PRPS1L1 PRPS1
15 charcot-marie-tooth disease, x-linked recessive, 2 9.3 SMAD9 PRPS1 GJB1
16 charcot-marie-tooth disease and deafness 9.2 PRPS1L1 PRPS1 GJB1
17 lesch-nyhan syndrome 9.2 PRPS1L1 PRPS1
18 arts syndrome 9.2 PRPS2 PRPS1L1 PRPS1
19 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.2 PRPS1L1 PRPS1 GJB1
20 charcot-marie-tooth disease type x 8.9 PRPS2 PRPS1L1 PRPS1 GJB1
21 charcot-marie-tooth disease, x-linked recessive, 5 8.9 PRPS2 PRPS1L1 PRPS1 GJB1

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 6:



Diseases related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

Human phenotypes related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 6:

58 31 (showing 21, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased nerve conduction velocity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000762
2 pes cavus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001761
3 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
4 sensorimotor neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007141
5 lower limb muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0007340
6 absent achilles reflex 58 31 hallmark (90%) Very frequent (99-80%) HP:0003438
7 distal sensory impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002936
8 distal lower limb amyotrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008944
9 hand tremor 58 31 hallmark (90%) Very frequent (99-80%) HP:0002378
10 emg: axonal abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003482
11 impaired vibration sensation in the lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0002166
12 thenar muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003393
13 steppage gait 58 31 frequent (33%) Frequent (79-30%) HP:0003376
14 elevated serum creatine kinase 31 frequent (33%) HP:0003236
15 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
16 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
17 elevated serum creatine phosphokinase 58 Frequent (79-30%)
18 hyporeflexia 31 HP:0001265
19 polyneuropathy 31 HP:0001271
20 sensory impairment 31 HP:0003474
21 hand muscle weakness 31 HP:0030237

Symptoms via clinical synopsis from OMIM:

56
Skeletal Feet:
pes cavus

Head And Neck Ears:
hearing loss, sensorineural (in some patients)
decreased auditory brainstem responses

Neurologic Peripheral Nervous System:
steppage gait
hand muscle weakness
hand tremor
distal muscle weakness and atrophy, predominantly lower limbs, due to peripheral neuropathy
distal sensory impairment, predominantly lower limbs
more

Clinical features from OMIM:

300905

UMLS symptoms related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 6:


tremor of hands

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 according to GeneCards Suite gene sharing:

26 (showing 2, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 8.92 GJB1 PDK3
2 Decreased viability GR00402-S-2 8.92 GJB1 PDK3

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

Genetic Tests for Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

Genetic tests related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 6:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 29 PDK3

Anatomical Context for Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 6:

40
Eye

Publications for Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

Articles related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 6:

(showing 4, show less)
# Title Authors PMID Year
1
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. 61 56 6
23297365 2013
2
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
3
Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation. 61
27388934 2016
4
X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene. 61
26801680 2016

Variations for Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, X-Linked Dominant, 6:

6 (showing 17, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PDK3 NM_005391.4(PDK3):c.473G>A (p.Arg158His)SNV Pathogenic 60682 rs397515323 X:24521596-24521596 X:24503479-24503479
2 PDK3 NM_005391.4(PDK3):c.320+6T>CSNV Uncertain significance 425484 rs748960946 X:24517023-24517023 X:24498906-24498906
3 PDK3 NM_005391.4(PDK3):c.562G>A (p.Asp188Asn)SNV Uncertain significance 474054 rs1165981822 X:24523382-24523382 X:24505265-24505265
4 PDK3 NC_000023.10:g.(?_24483553)_(24483698_?)deldeletion Uncertain significance 541118 X:24483553-24483698 X:24465436-24465581
5 PDK3 NC_000023.10:g.(?_24483553)_(24557301_?)dupduplication Uncertain significance 541117 X:24483553-24557301 X:24465436-24539184
6 PDK3 NM_005391.4(PDK3):c.608C>G (p.Thr203Arg)SNV Uncertain significance 541112 rs1555949588 X:24537062-24537062 X:24518945-24518945
7 PDK3 NM_005391.4(PDK3):c.160C>T (p.Pro54Ser)SNV Uncertain significance 572656 rs1569221445 X:24512912-24512912 X:24494795-24494795
8 PDK3 NC_000023.10:g.(?_24512839)_(24557301_?)deldeletion Uncertain significance 584091 X:24512839-24557301 X:24494722-24539184
9 PDK3 NM_005391.4(PDK3):c.1087dup (p.Ser363fs)duplication Uncertain significance 577143 rs1569228214 X:24552053-24552054 X:24533936-24533937
10 PDK3 NM_005391.4(PDK3):c.1126G>A (p.Ala376Thr)SNV Uncertain significance 568129 rs781166988 X:24552094-24552094 X:24533977-24533977
11 PDK3 NM_005391.4(PDK3):c.597del (p.Asp199fs)deletion Uncertain significance 566615 rs1569225940 X:24537051-24537051 X:24518934-24518934
12 PDK3 NM_005391.4(PDK3):c.474C>T (p.Arg158=)SNV Uncertain significance 650892 X:24521597-24521597 X:24503480-24503480
13 PDK3 NM_005391.4(PDK3):c.486C>T (p.Arg162=)SNV Uncertain significance 648471 X:24521609-24521609 X:24503492-24503492
14 PDK3 NM_005391.4(PDK3):c.582G>A (p.Ala194=)SNV Uncertain significance 650052 X:24523402-24523402 X:24505285-24505285
15 PDK3 NM_005391.4(PDK3):c.811A>G (p.Lys271Glu)SNV Uncertain significance 657567 X:24545751-24545751 X:24527634-24527634
16 PDK3 NM_005391.4(PDK3):c.1083T>C (p.Leu361=)SNV Likely benign 541113 rs746261967 X:24552051-24552051 X:24533934-24533934
17 PDK3 NM_005391.4(PDK3):c.51G>C (p.Glu17Asp)SNV Benign 474053 rs371137355 X:24483623-24483623 X:24465506-24465506

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, X-Linked Dominant, 6:

73 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 PDK3 p.Arg158His VAR_070082 rs397515323

Expression for Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, X-Linked Dominant, 6.

Pathways for Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

Pathways related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 according to GeneCards Suite gene sharing:

(showing 5, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.25 PRPS2 PRPS1L1 PRPS1
2
Show member pathways
12.11 PRPS2 PRPS1L1 PRPS1
3
Show member pathways
11.66 PRPS2 PRPS1L1 PRPS1
4
Show member pathways
10.61 PRPS2 PRPS1L1 PRPS1
5 10.23 PRPS2 PRPS1

GO Terms for Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

Cellular components related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 ribose phosphate diphosphokinase complex GO:0002189 8.8 PRPS2 PRPS1L1 PRPS1

Biological processes related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 according to GeneCards Suite gene sharing:

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.71 PRPS2 PRPS1L1 PRPS1 PDK3
2 nucleoside metabolic process GO:0009116 9.54 PRPS2 PRPS1L1 PRPS1
3 purine nucleotide biosynthetic process GO:0006164 9.5 PRPS2 PRPS1L1 PRPS1
4 nucleotide biosynthetic process GO:0009165 9.43 PRPS2 PRPS1L1 PRPS1
5 ribonucleoside monophosphate biosynthetic process GO:0009156 9.33 PRPS2 PRPS1L1 PRPS1
6 5-phosphoribose 1-diphosphate biosynthetic process GO:0006015 9.13 PRPS2 PRPS1L1 PRPS1
7 cellular biosynthetic process GO:0044249 8.8 PRPS2 PRPS1L1 PRPS1

Molecular functions related to Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 according to GeneCards Suite gene sharing:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.67 PRPS2 PRPS1L1 PRPS1 PDK3
2 ATP binding GO:0005524 9.62 PRPS2 PRPS1L1 PRPS1 PDK3
3 protein homodimerization activity GO:0042803 9.56 PRPS2 PRPS1L1 PRPS1 GJB1
4 magnesium ion binding GO:0000287 9.33 PRPS2 PRPS1L1 PRPS1
5 kinase activity GO:0016301 9.26 PRPS2 PRPS1L1 PRPS1 PDK3
6 ribose phosphate diphosphokinase activity GO:0004749 8.8 PRPS2 PRPS1L1 PRPS1

Sources for Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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