CMT2Q
MCID: CHR489
MIFTS: 33

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

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Muscle 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 20 29 13 6 39 70
Cmt2q 57 12 20 58 72
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q 12 20 58
Charcot-Marie-Tooth Disease Axonal Type 2q 12 72 15
Charcot-Marie-Tooth Neuropathy, Type 2q 57 20 72
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2q 57 20
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2q 12
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2q 72
Charcot-Marie-Tooth Neuropathy Axonal Type 2q 72
Charcot-Marie-Tooth Neuropathy Type 2q 12
Charcot-Marie-Tooth Disease Type 2q 20
Charcot-Marie-Tooth Disease 2q 72

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant charcot-marie-tooth disease type 2q
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
charcot-marie-tooth disease, axonal, type 2q:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110170
OMIM® 57 615025
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA329258
UMLS 70 C3554366

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

UniProtKB/Swiss-Prot : 72 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 and tooth disease. 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 Factors involved in megakaryocyte development and platelet production. Affiliated tissues include skeletal muscle, and related phenotypes are skeletal muscle atrophy and sensory impairment

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.

More information from OMIM: 615025 PS118220

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
Charcot-Marie-Tooth Disease, Axonal, Type 2ee 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:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 28.7 PLEKHG5 KIF1A GJB3 DHTKD1
2 tooth disease 9.9
3 peripheral nervous system disease 9.9
4 neuropathy 9.9
5 tukel syndrome 9.6 KIF1A KIF17

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:

31
# Description HPO Frequency HPO Source Accession
1 skeletal muscle atrophy 31 HP:0003202
2 sensory impairment 31 HP:0003474
3 difficulty walking 31 HP:0002355

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

40
Skeletal Muscle

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

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

# Title Authors PMID Year
1
A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. 57 6
23141294 2012
2
DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. 57 61
29661920 2018
3
CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model. 61
32169121 2020
4
A Chinese pedigree with a novel mutation in GJB1 gene and a rare variation in DHTKD1 gene for diverse Charcot‑Marie‑Tooth diseases. 61
30896807 2019

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DHTKD1 NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter) SNV Pathogenic 39566 rs606231237 GRCh37: 10:12139779-12139779
GRCh38: 10:12097780-12097780
2 DHTKD1 NM_018706.7(DHTKD1):c.1897-1G>A SNV Pathogenic 467824 rs760386662 GRCh37: 10:12148244-12148244
GRCh38: 10:12106245-12106245
3 DHTKD1 NM_018706.7(DHTKD1):c.2500C>T (p.Arg834Ter) SNV Likely pathogenic 216917 rs770649540 GRCh37: 10:12160845-12160845
GRCh38: 10:12118846-12118846
4 DHTKD1 NM_018706.7(DHTKD1):c.1543C>A (p.Pro515Thr) SNV Likely pathogenic 617591 rs762729182 GRCh37: 10:12139867-12139867
GRCh38: 10:12097868-12097868
5 DHTKD1 NM_018706.7(DHTKD1):c.1363C>T (p.Arg455Ter) SNV Likely pathogenic 1033496 GRCh37: 10:12139687-12139687
GRCh38: 10:12097688-12097688
6 DHTKD1 NM_018706.7(DHTKD1):c.2659del (p.Leu887fs) Deletion Uncertain significance 915264 GRCh37: 10:12162786-12162786
GRCh38: 10:12120787-12120787
7 DHTKD1 NM_018706.7(DHTKD1):c.1792C>T (p.Arg598Cys) SNV Uncertain significance 548564 rs375292909 GRCh37: 10:12143076-12143076
GRCh38: 10:12101077-12101077
8 DHTKD1 NM_018706.7(DHTKD1):c.2744C>T (p.Ala915Val) SNV Uncertain significance 453262 rs756509201 GRCh37: 10:12162871-12162871
GRCh38: 10:12120872-12120872
9 DHTKD1 NM_018706.7(DHTKD1):c.920C>T (p.Ser307Phe) SNV Uncertain significance 1033500 GRCh37: 10:12131187-12131187
GRCh38: 10:12089188-12089188
10 DHTKD1 NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg) SNV not provided 585057 rs1016086446 GRCh37: 10:12162874-12162874
GRCh38: 10:12120875-12120875

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 10.82 KIF4A KIF1A

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

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

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 9.32 PLEKHG5 GJB3
2 presynapse GO:0098793 9.26 PLEKHG5 KIF1A
3 axon cytoplasm GO:1904115 9.16 KIF4A KIF1A
4 kinesin complex GO:0005871 8.96 KIF1A KIF17
5 microtubule GO:0005874 8.8 KIF4A KIF1A KIF17

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 anterograde axonal transport GO:0008089 8.96 KIF4A KIF1A
2 microtubule-based movement GO:0007018 8.8 KIF4A KIF1A KIF17

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

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.33 KIF4A KIF1A KIF17
2 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 8.96 KIF1A KIF17
3 microtubule motor activity GO:0003777 8.8 KIF4A KIF1A KIF17

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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