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 58 30 13 6 41 74
Cmt2q 58 12 60 76
Charcot-Marie-Tooth Disease Axonal Type 2q 12 76 15
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q 12 60
Charcot-Marie-Tooth Neuropathy, Type 2q 58 76
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2q 58
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2q 12
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2q 76
Charcot-Marie-Tooth Neuropathy Axonal Type 2q 76
Charcot-Marie-Tooth Neuropathy Type 2q 12
Charcot-Marie-Tooth Disease 2q 76

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant charcot-marie-tooth disease type 2q
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
charcot-marie-tooth disease, axonal, type 2q:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110170
OMIM 58 615025
MeSH 45 D002607
ICD10 34 G60.0
ICD10 via Orphanet 35 G60.0
Orphanet 60 ORPHA329258
UMLS 74 C3554366

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

UniProtKB/Swiss-Prot : 76 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 1f. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2q is DHTKD1 (Dehydrogenase E1 And Transketolase Domain Containing 1), and among its related pathways/superpathways is Neural Crest Differentiation. Affiliated tissues include 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 Defect

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

(show all 23)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease type 2q 11.8
2 charcot-marie-tooth disease, demyelinating, type 1f 9.8 GJB1 MPZ
3 charcot-marie-tooth disease, axonal, type 2f 9.8 GJB1 MPZ
4 charcot-marie-tooth disease, axonal, type 2d 9.7 GJB1 MPZ
5 charcot-marie-tooth disease, x-linked dominant, 1 9.7 GJB1 MPZ
6 motor peripheral neuropathy 9.7 GJB1 MPZ
7 hereditary motor and sensory neuropathy, type iic 9.6 GJB1 MPZ
8 charcot-marie-tooth disease, demyelinating, type 1c 9.5 EGR2 GJB1 MPZ
9 charcot-marie-tooth disease, demyelinating, type 1b 9.5 EGR2 GJB1 MPZ
10 charcot-marie-tooth disease, axonal, type 2b 9.5 EGR2 GJB1 MPZ
11 autoimmune peripheral neuropathy 9.5 GJB1 MPZ
12 charcot-marie-tooth disease, demyelinating, type 1a 9.5 EGR2 GJB1 MPZ
13 charcot-marie-tooth disease, demyelinating, type 1d 9.5 EGR2 GJB1 MPZ
14 neuropathy, hereditary, with liability to pressure palsies 9.5 EGR2 GJB1 MPZ
15 neuropathy 9.5 EGR2 GJB1 MPZ
16 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.5 EGR2 GJB1 MPZ
17 charcot-marie-tooth disease and deafness 9.5 EGR2 GJB1 MPZ
18 hypertrophic neuropathy of dejerine-sottas 9.5 EGR2 GJB1 MPZ
19 sensory peripheral neuropathy 9.4 EGR2 GJB1 MPZ
20 peripheral nervous system disease 9.4 EGR2 GJB1 MPZ
21 charcot-marie-tooth disease, axonal, type 2e 9.4 EGR2 GJB1 MPZ
22 charcot-marie-tooth disease 9.2 DHTKD1 EGR2 GJB1 MPZ
23 tooth disease 9.2 DHTKD1 EGR2 GJB1 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

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

33
# Description HPO Frequency HPO Source Accession
1 skeletal muscle atrophy 33 HP:0003202
2 difficulty walking 33 HP:0002355
3 sensory impairment 33 HP:0003474

Symptoms via clinical synopsis from OMIM:

58
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

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 30 DHTKD1

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

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

42
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.2500C> T (p.Arg834Ter) single nucleotide variant Likely pathogenic rs770649540 GRCh37 Chromosome 10, 12160845: 12160845
2 DHTKD1 NM_018706.6(DHTKD1): c.2500C> T (p.Arg834Ter) single nucleotide variant Likely pathogenic rs770649540 GRCh38 Chromosome 10, 12118846: 12118846
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.2744C> T (p.Ala915Val) single nucleotide variant Uncertain significance rs756509201 GRCh38 Chromosome 10, 12120872: 12120872
6 DHTKD1 NM_018706.6(DHTKD1): c.2744C> T (p.Ala915Val) single nucleotide variant Uncertain significance rs756509201 GRCh37 Chromosome 10, 12162871: 12162871
7 DHTKD1 NM_018706.6(DHTKD1): c.1792C> T (p.Arg598Cys) single nucleotide variant Uncertain significance rs375292909 GRCh37 Chromosome 10, 12143076: 12143076
8 DHTKD1 NM_018706.6(DHTKD1): c.1792C> T (p.Arg598Cys) single nucleotide variant Uncertain significance rs375292909 GRCh38 Chromosome 10, 12101077: 12101077
9 DHTKD1 NM_018706.6(DHTKD1): c.2747A> G (p.Lys916Arg) single nucleotide variant not provided GRCh38 Chromosome 10, 12120875: 12120875
10 DHTKD1 NM_018706.6(DHTKD1): c.2747A> G (p.Lys916Arg) single nucleotide variant not provided GRCh37 Chromosome 10, 12162874: 12162874
11 DHTKD1 NM_018706.7(DHTKD1): c.1543C> A (p.Pro515Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 12097868: 12097868
12 DHTKD1 NM_018706.7(DHTKD1): c.1543C> A (p.Pro515Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 12139867: 12139867

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

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

# Super pathways Score Top Affiliating Genes
1 10.63 GJB1 MPZ

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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