CMTX6
MCID: CHR505
MIFTS: 29

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

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic 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 57 53 74 29 6 72
Cmtx6 57 12 53 59 74
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 Disease X-Linked Dominant 6 12 15
Charcot-Marie-Tooth Neuropathy X-Linked Dominant 6 12
Charcot-Marie-Tooth Disease, X-Linked, Type 6 40
Charcot-Marie-Tooth Neuropathy X-Linked 6 74

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
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:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110207
ICD10 33 G60.0
ICD10 via Orphanet 34 G60.0
Orphanet 59 ORPHA352675
UMLS 72 C3806702

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

UniProtKB/Swiss-Prot : 74 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.

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
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:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 10.4
2 tooth disease 10.4
3 peripheral nervous system disease 10.4
4 neuropathy 10.4
5 charcot-marie-tooth disease, demyelinating, type 1a 10.1
6 axonal neuropathy 10.1
7 charcot-marie-tooth neuropathy x type 1 10.1
8 charcot-marie-tooth neuropathy x type 5 10.1
9 x-linked charcot-marie-tooth disease 10.1

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:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
2 pes cavus 32 HP:0001761
3 hyporeflexia 32 HP:0001265
4 polyneuropathy 32 HP:0001271
5 steppage gait 32 HP:0003376
6 sensory impairment 32 HP:0003474
7 hand muscle weakness 32 HP:0030237
8 hand tremor 32 HP:0002378

Symptoms via clinical synopsis from OMIM:

57
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

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 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. 38 8 71
23297365 2013
2
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 71
20301532 1998
3
Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation. 38
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. 38
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 (show all 24)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PDK3 NM_005391.4(PDK3): c.473G> A (p.Arg158His) single nucleotide variant Pathogenic rs397515323 X:24521596-24521596 X:24503479-24503479
2 PDK3 NM_005391.4(PDK3): c.376A> G (p.Met126Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138321172 X:24521499-24521499 X:24503382-24503382
3 PDK3 NM_005391.4(PDK3): c.320+6T> C single nucleotide variant Uncertain significance rs748960946 X:24517023-24517023 X:24498906-24498906
4 PDK3 NM_005391.4(PDK3): c.562G> A (p.Asp188Asn) single nucleotide variant Uncertain significance rs1165981822 X:24523382-24523382 X:24505265-24505265
5 PDK3 NC_000023.10: g.(?_24483553)_(24483698_?)del deletion Uncertain significance X:24483553-24483698 X:24465436-24465581
6 PDK3 NC_000023.10: g.(?_24483553)_(24557301_?)dup duplication Uncertain significance X:24483553-24557301 X:24465436-24539184
7 PDK3 NM_005391.4(PDK3): c.160C> T (p.Pro54Ser) single nucleotide variant Uncertain significance X:24512912-24512912 X:24494795-24494795
8 PDK3 NC_000023.10: g.(?_24512839)_(24557301_?)del deletion Uncertain significance X:24512839-24557301 X:24494722-24539184
9 PDK3 NM_005391.4(PDK3): c.1087dup (p.Ser363fs) duplication Uncertain significance X:24552055-24552055 X:24533938-24533938
10 PDK3 NM_005391.4(PDK3): c.1126G> A (p.Ala376Thr) single nucleotide variant Uncertain significance X:24552094-24552094 X:24533977-24533977
11 PDK3 NM_005391.4(PDK3): c.597del (p.Asp199fs) deletion Uncertain significance X:24537051-24537051 X:24518934-24518934
12 PDK3 NM_005391.4(PDK3): c.474C> T (p.Arg158=) single nucleotide variant Uncertain significance X:24521597-24521597 X:24503480-24503480
13 PDK3 NM_005391.4(PDK3): c.486C> T (p.Arg162=) single nucleotide variant Uncertain significance X:24521609-24521609 X:24503492-24503492
14 PDK3 NM_005391.4(PDK3): c.582G> A (p.Ala194=) single nucleotide variant Uncertain significance X:24523402-24523402 X:24505285-24505285
15 PDK3 NM_005391.4(PDK3): c.811A> G (p.Lys271Glu) single nucleotide variant Uncertain significance X:24545751-24545751 X:24527634-24527634
16 PDK3 NM_005391.4(PDK3): c.608C> G (p.Thr203Arg) single nucleotide variant Uncertain significance rs1555949588 X:24537062-24537062 X:24518945-24518945
17 PDK3 NM_005391.4(PDK3): c.751-10A> G single nucleotide variant Likely benign rs372774822 X:24545681-24545681 X:24527564-24527564
18 PDK3 NM_005391.4(PDK3): c.798C> A (p.Gly266=) single nucleotide variant Likely benign rs1250656724 X:24545738-24545738 X:24527621-24527621
19 PDK3 NM_005391.4(PDK3): c.1083T> C (p.Leu361=) single nucleotide variant Likely benign rs746261967 X:24552051-24552051 X:24533934-24533934
20 PDK3 NM_005391.4(PDK3): c.249-8C> T single nucleotide variant Likely benign rs1231289510 X:24516938-24516938 X:24498821-24498821
21 PDK3 NM_005391.4(PDK3): c.336G> C (p.Leu112=) single nucleotide variant Likely benign rs372442017 X:24521459-24521459 X:24503342-24503342
22 PDK3 NM_001142386.3(PDK3): c.1228A> C (p.Lys410Gln) single nucleotide variant Benign/Likely benign rs141326782 X:24557261-24557261 X:24539144-24539144
23 PDK3 NM_005391.4(PDK3): c.51G> C (p.Glu17Asp) single nucleotide variant Benign rs371137355 X:24483623-24483623 X:24465506-24465506
24 PDK3 NM_005391.4(PDK3): c.282T> C (p.Tyr94=) single nucleotide variant Benign rs201198782 X:24516979-24516979 X:24498862-24498862

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

74
# 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

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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