CMT2Q
MCID: CHR489
MIFTS: 30

Charcot-Marie-Tooth Disease, Axonal, Type 2q (CMT2Q)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Axonal, Type 2q

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, Type 2q:

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2q 57 29 13 6 40 73
Cmt2q 57 12 59 75
Charcot-Marie-Tooth Disease Axonal Type 2q 12 75 15
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q 12 59
Charcot-Marie-Tooth Neuropathy, Type 2q 57 75
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2q 57
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2q 12
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2q 75
Charcot-Marie-Tooth Neuropathy Axonal Type 2q 75
Charcot-Marie-Tooth Neuropathy Type 2q 12
Charcot-Marie-Tooth Disease 2q 75

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant charcot-marie-tooth disease type 2q
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
one 5-generation chinese family reported (last curated november 2014)


HPO:

32
charcot-marie-tooth disease, axonal, type 2q:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 615025
Disease Ontology 12 DOID:0110170
ICD10 33 G60.0
Orphanet 59 ORPHA329258
ICD10 via Orphanet 34 G60.0
MeSH 44 D002607
UMLS 73 C3554366

Summaries for Charcot-Marie-Tooth Disease, Axonal, Type 2q

UniProtKB/Swiss-Prot : 75 Charcot-Marie-Tooth disease 2Q: An axonal 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 (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2q, also known as cmt2q, is related to charcot-marie-tooth disease type 2q and charcot-marie-tooth disease, demyelinating, type 1c. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2q is DHTKD1 (Dehydrogenase E1 And Transketolase Domain Containing 1). Affiliated tissues include skin and skeletal muscle, and related phenotypes are skeletal muscle atrophy and difficulty walking

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.

Description from OMIM: 615025

Related Diseases for Charcot-Marie-Tooth Disease, Axonal, Type 2q

Diseases in the Charcot-Marie-Tooth Disease, Axonal, Type 2e family:

Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2b
Charcot-Marie-Tooth Disease, Axonal, Type 2d Charcot-Marie-Tooth Disease, Axonal, Type 2b1
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Type 2f
Charcot-Marie-Tooth Disease, Axonal, Type 2i Charcot-Marie-Tooth Disease, Axonal, Type 2h
Charcot-Marie-Tooth Disease, Axonal, Type 2j Charcot-Marie-Tooth Disease, Axonal, Type 2k
Charcot-Marie-Tooth Disease, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a
Charcot-Marie-Tooth Disease, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Type 2o
Charcot-Marie-Tooth Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2q
Charcot-Marie-Tooth Disease, Axonal, Type 2r Charcot-Marie-Tooth Disease, Axonal, Type 2u
Charcot-Marie-Tooth Disease, Axonal, Type 2v Charcot-Marie-Tooth Disease, Axonal, Type 2w
Charcot-Marie-Tooth Disease, Axonal, Type 2x Charcot-Marie-Tooth Disease, Axonal, Type 2z
Charcot-Marie-Tooth Disease, Axonal, Type 2cc Charcot-Marie-Tooth Disease, Axonal, Type 2t
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b Charcot-Marie-Tooth Disease, Axonal, Type 2dd
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Deffect

Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2q via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease type 2q 11.8
2 charcot-marie-tooth disease, demyelinating, type 1c 9.9 EGR2 MPZ
3 charcot-marie-tooth disease, demyelinating, type 1b 9.9 EGR2 MPZ
4 charcot-marie-tooth disease, axonal, type 2b 9.9 EGR2 MPZ
5 charcot-marie-tooth disease, demyelinating, type 1a 9.9 EGR2 MPZ
6 charcot-marie-tooth disease, demyelinating, type 1d 9.9 EGR2 MPZ
7 neuropathy 9.9 EGR2 MPZ
8 neuropathy, hereditary, with liability to pressure palsies 9.9 EGR2 MPZ
9 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.9 EGR2 MPZ
10 charcot-marie-tooth disease and deafness 9.8 EGR2 MPZ
11 hypertrophic neuropathy of dejerine-sottas 9.8 EGR2 MPZ
12 sensory peripheral neuropathy 9.8 EGR2 MPZ
13 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 9.8 EGR2 MPZ
14 peripheral nervous system disease 9.8 EGR2 MPZ
15 charcot-marie-tooth disease, axonal, type 2e 9.7 EGR2 MPZ
16 charcot-marie-tooth disease 9.7 DHTKD1 EGR2 MPZ
17 tooth disease 9.7 DHTKD1 EGR2 MPZ

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2q:



Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2q

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Axonal, Type 2q

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
difficulty walking
weakness of distal lower limbs
muscle atrophy in distal forearm and hands
decreased or absent deep tendon reflexes
deep sensory impairment, mild to moderate

Muscle Soft Tissue:
muscle atrophy
small, angulated muscle fibers seen on muscle biopsy
sarcomere disappearance seen on muscle biopsy
disorganized myofilaments seen on muscle biopsy
mitochondrial vacuolization seen on muscle biopsy
more

Clinical features from OMIM:

615025

Human phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2q:

32
# Description HPO Frequency HPO Source Accession
1 skeletal muscle atrophy 32 HP:0003202
2 difficulty walking 32 HP:0002355
3 sensory impairment 32 HP:0003474

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Axonal, Type 2q

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Axonal, Type 2q

Genetic Tests for Charcot-Marie-Tooth Disease, Axonal, Type 2q

Genetic tests related to Charcot-Marie-Tooth Disease, Axonal, Type 2q:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Axonal, Type 2q 29 DHTKD1

Anatomical Context for Charcot-Marie-Tooth Disease, Axonal, Type 2q

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Axonal, Type 2q:

41
Skin, Skeletal Muscle

Publications for Charcot-Marie-Tooth Disease, Axonal, Type 2q

Variations for Charcot-Marie-Tooth Disease, Axonal, Type 2q

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2q:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 DHTKD1 NM_018706.6(DHTKD1): c.2185G> A (p.Gly729Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs117225135 GRCh37 Chromosome 10, 12154929: 12154929
2 DHTKD1 NM_018706.6(DHTKD1): c.2185G> A (p.Gly729Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs117225135 GRCh38 Chromosome 10, 12112930: 12112930
3 DHTKD1 NM_018706.6(DHTKD1): c.1455T> G (p.Tyr485Ter) single nucleotide variant Pathogenic rs606231237 GRCh38 Chromosome 10, 12097780: 12097780
4 DHTKD1 NM_018706.6(DHTKD1): c.1455T> G (p.Tyr485Ter) single nucleotide variant Pathogenic rs606231237 GRCh37 Chromosome 10, 12139779: 12139779
5 DHTKD1 NM_018706.6(DHTKD1): c.2500C> T (p.Arg834Ter) single nucleotide variant Likely pathogenic rs770649540 GRCh37 Chromosome 10, 12160845: 12160845
6 DHTKD1 NM_018706.6(DHTKD1): c.2500C> T (p.Arg834Ter) single nucleotide variant Likely pathogenic rs770649540 GRCh38 Chromosome 10, 12118846: 12118846
7 DHTKD1 NM_018706.6(DHTKD1): c.2744C> T (p.Ala915Val) single nucleotide variant Uncertain significance rs756509201 GRCh38 Chromosome 10, 12120872: 12120872
8 DHTKD1 NM_018706.6(DHTKD1): c.2744C> T (p.Ala915Val) single nucleotide variant Uncertain significance rs756509201 GRCh37 Chromosome 10, 12162871: 12162871
9 DHTKD1 NM_018706.6(DHTKD1): c.1792C> T (p.Arg598Cys) single nucleotide variant Uncertain significance rs375292909 GRCh37 Chromosome 10, 12143076: 12143076
10 DHTKD1 NM_018706.6(DHTKD1): c.1792C> T (p.Arg598Cys) single nucleotide variant Uncertain significance rs375292909 GRCh38 Chromosome 10, 12101077: 12101077
11 DHTKD1 NM_018706.6(DHTKD1): c.2747A> G (p.Lys916Arg) single nucleotide variant not provided rs1016086446 GRCh38 Chromosome 10, 12120875: 12120875
12 DHTKD1 NM_018706.6(DHTKD1): c.2747A> G (p.Lys916Arg) single nucleotide variant not provided rs1016086446 GRCh37 Chromosome 10, 12162874: 12162874

Expression for Charcot-Marie-Tooth Disease, Axonal, Type 2q

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, Type 2q.

Pathways for Charcot-Marie-Tooth Disease, Axonal, Type 2q

GO Terms for Charcot-Marie-Tooth Disease, Axonal, Type 2q

Biological processes related to Charcot-Marie-Tooth Disease, Axonal, Type 2q according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myelination GO:0042552 8.62 EGR2 MPZ

Sources for Charcot-Marie-Tooth Disease, Axonal, Type 2q

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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