MCID: CHR505
MIFTS: 24

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

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases, Fetal diseases, Muscle diseases, Eye diseases, Metabolic 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 57 53 75 29 6 73
Cmtx6 57 12 53 59 75
X-Linked Charcot-Marie-Tooth Disease Type 6 12 53 59
Cmt6x 12 53 59
Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 6 57 53
Charcot-Marie-Tooth Neuropathy X-Linked Dominant 6 12
Charcot-Marie-Tooth Disease X-Linked Dominant 6 12
Charcot-Marie-Tooth Neuropathy X-Linked 6 75

Characteristics:

Orphanet epidemiological data:

59
x-linked charcot-marie-tooth disease type 6
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
x-linked dominant

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


HPO:

32
charcot-marie-tooth disease, x-linked dominant, 6:
Inheritance x-linked dominant inheritance
Onset and clinical course slow progression


Classifications:



External Ids:

OMIM 57 300905
Disease Ontology 12 DOID:0110207
ICD10 33 G60.0
Orphanet 59 ORPHA352675
ICD10 via Orphanet 34 G60.0
UMLS 73 C3806702

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

UniProtKB/Swiss-Prot : 75 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 charcot-marie-tooth disease and 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). Related phenotypes are sensorineural hearing impairment 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.

Description from OMIM: 300905

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

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

Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

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

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 10.0
2 tooth disease 10.0
3 neuropathy, hereditary motor and sensory, type via 9.9
4 neuropathy 9.9
5 x-linked charcot-marie-tooth disease 9.9

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, sensorineural (in some patients)
decreased auditory brainstem responses

Neurologic Peripheral Nervous System:
steppage gait
distal muscle weakness and atrophy, predominantly lower limbs, due to peripheral neuropathy
distal sensory impairment, predominantly lower limbs
ankle hyporeflexia
hand muscle weakness
more
Skeletal Feet:
pes cavus


Clinical features from OMIM:

300905

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

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
2 pes cavus 32 HP:0001761
3 hand tremor 32 HP:0002378
4 steppage gait 32 HP:0003376
5 hand muscle weakness 32 HP:0030237

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


tremor of hands

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

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

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

# Title Authors Year
1
X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene. ( 26801680 )
2016

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

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

75
# Symbol AA change Variation ID SNP ID
1 PDK3 p.Arg158His VAR_070082 rs397515323

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

6
(show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 PDK3 NM_005391.4(PDK3): c.473G> A (p.Arg158His) single nucleotide variant Pathogenic rs397515323 GRCh37 Chromosome X, 24521596: 24521596
2 PDK3 NM_005391.4(PDK3): c.473G> A (p.Arg158His) single nucleotide variant Pathogenic rs397515323 GRCh38 Chromosome X, 24503479: 24503479
3 PDK3 NM_001142386.2(PDK3): c.376A> G (p.Met126Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138321172 GRCh37 Chromosome X, 24521499: 24521499
4 PDK3 NM_001142386.2(PDK3): c.376A> G (p.Met126Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138321172 GRCh38 Chromosome X, 24503382: 24503382
5 PDK3 NM_001142386.2(PDK3): c.51G> C (p.Glu17Asp) single nucleotide variant Benign rs371137355 GRCh37 Chromosome X, 24483623: 24483623
6 PDK3 NM_001142386.2(PDK3): c.51G> C (p.Glu17Asp) single nucleotide variant Benign rs371137355 GRCh38 Chromosome X, 24465506: 24465506
7 PDK3 NM_001142386.2(PDK3): c.249-8C> T single nucleotide variant Likely benign GRCh37 Chromosome X, 24516938: 24516938
8 PDK3 NM_001142386.2(PDK3): c.249-8C> T single nucleotide variant Likely benign GRCh38 Chromosome X, 24498821: 24498821
9 PDK3 NM_001142386.2(PDK3): c.336G> C (p.Leu112=) single nucleotide variant Likely benign rs372442017 GRCh37 Chromosome X, 24521459: 24521459
10 PDK3 NM_001142386.2(PDK3): c.336G> C (p.Leu112=) single nucleotide variant Likely benign rs372442017 GRCh38 Chromosome X, 24503342: 24503342
11 PDK3 NM_001142386.2(PDK3): c.1228A> C (p.Lys410Gln) single nucleotide variant Benign/Likely benign rs141326782 GRCh37 Chromosome X, 24557261: 24557261
12 PDK3 NM_001142386.2(PDK3): c.1228A> C (p.Lys410Gln) single nucleotide variant Benign/Likely benign rs141326782 GRCh38 Chromosome X, 24539144: 24539144
13 PDK3 NM_001142386.2(PDK3): c.562G> A (p.Asp188Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 24505265: 24505265
14 PDK3 NM_001142386.2(PDK3): c.562G> A (p.Asp188Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 24523382: 24523382
15 PDK3 NC_000023.11: g.(?_24465436)_(24465581_?)del deletion Uncertain significance GRCh38 Chromosome X, 24465436: 24465581
16 PDK3 NC_000023.11: g.(?_24465436)_(24465581_?)del deletion Uncertain significance GRCh37 Chromosome X, 24483553: 24483698
17 PDK3 NC_000023.11: g.(?_24465436)_(24539184_?)dup duplication Uncertain significance GRCh38 Chromosome X, 24465436: 24539184
18 PDK3 NC_000023.11: g.(?_24465436)_(24539184_?)dup duplication Uncertain significance GRCh37 Chromosome X, 24483553: 24557301
19 PDK3 NM_001142386.2(PDK3): c.1083T> C (p.Leu361=) single nucleotide variant Likely benign rs746261967 GRCh37 Chromosome X, 24552051: 24552051
20 PDK3 NM_001142386.2(PDK3): c.1083T> C (p.Leu361=) single nucleotide variant Likely benign rs746261967 GRCh38 Chromosome X, 24533934: 24533934
21 PDK3 NM_001142386.2(PDK3): c.282T> C (p.Tyr94=) single nucleotide variant Benign rs201198782 GRCh38 Chromosome X, 24498862: 24498862
22 PDK3 NM_001142386.2(PDK3): c.282T> C (p.Tyr94=) single nucleotide variant Benign rs201198782 GRCh37 Chromosome X, 24516979: 24516979
23 PDK3 NM_001142386.2(PDK3): c.608C> G (p.Thr203Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 24518945: 24518945
24 PDK3 NM_001142386.2(PDK3): c.608C> G (p.Thr203Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 24537062: 24537062
25 PDK3 NM_001142386.2(PDK3): c.751-10A> G single nucleotide variant Likely benign rs372774822 GRCh38 Chromosome X, 24527564: 24527564
26 PDK3 NM_001142386.2(PDK3): c.751-10A> G single nucleotide variant Likely benign rs372774822 GRCh37 Chromosome X, 24545681: 24545681
27 PDK3 NM_001142386.2(PDK3): c.798C> A (p.Gly266=) single nucleotide variant Likely benign GRCh38 Chromosome X, 24527621: 24527621
28 PDK3 NM_001142386.2(PDK3): c.798C> A (p.Gly266=) single nucleotide variant Likely benign GRCh37 Chromosome X, 24545738: 24545738

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

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

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

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70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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