Charcot-Marie-Tooth Disease, Axonal, Type 2q disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Skin diseases Ear diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Diseases of the nervous system

Polyneuropathies and other disorders of the peripheral nervous system

Hereditary and idiopathic neuropathy

Hereditary motor and sensory neuropathy

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

MedGen ⁴¹ C3554366 CN164583

SNOMED-CT via HPO ⁶⁸ 228158008 263681008 397974008 more

UMLS ⁷⁰ C3554366

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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

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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:

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

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

³¹

#	Description	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)

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

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

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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

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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

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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	Xu WY...Wang ZG	23141294	2012
2	DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. ⁵⁷ ⁶¹	Xu WY...Wang ZG	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	Luan CJ...Gu MM	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	Zhao ZH...Wang YZ	30896807	2019

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

Genes related to Charcot-Marie-Tooth Disease, Axonal, Type 2q (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	DHTKD1	Dehydrogenase E1 And Transketolase Domain Containing 1	Protein Coding	1442.52	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	23141294
2	PLEKHG5	Pleckstrin Homology And RhoGEF Domain Containing G5	Protein Coding	6.4	DISEASES inferred ¹⁵
3	KIF17	Kinesin Family Member 17	Protein Coding	6.18	DISEASES inferred ¹⁵
4	GJB3	Gap Junction Protein Beta 3	Protein Coding	5.92	DISEASES inferred ¹⁵
5	KIF4A	Kinesin Family Member 4A	Protein Coding	5.89	DISEASES inferred ¹⁵
6	KIF1A	Kinesin Family Member 1A	Protein Coding	5.81	DISEASES inferred ¹⁵

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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

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

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

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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	Factors involved in megakaryocyte development and platelet production ⁶⁵	10.82	KIF4A KIF1A

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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

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

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

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⁴⁰ MalaCards

⁴¹ MedGen

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

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⁶⁴ R&D Systems

⁶⁵ Reactome

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

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

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

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

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

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

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

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

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

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

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

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

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

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

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

Genes related to Charcot-Marie-Tooth Disease, Axonal, Type 2q (1 elite genes):

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

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

Expression 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:

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:

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

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

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