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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴ ³⁵

Diseases of the nervous system

Polyneuropathies and other disorders of the peripheral nervous system

Hereditary and idiopathic neuropathy

Hereditary motor and sensory neuropathy

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

MedGen ⁴³ C3554366 CN164583

SNOMED-CT via HPO ⁷⁰ 228158008 263681008 397974008 more

UMLS ⁷⁴ C3554366

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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 skin, 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

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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:

(show all 23)

#	Related Disease	Score	Top Affiliating Genes
1	charcot-marie-tooth disease type 2q	11.9
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	9.5	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:

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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:

³³

#	Description	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

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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 ³⁰	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:

⁴²

Skeletal Muscle, Skin

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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	Year
1	A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. ( 23141294 )	Xu WY...Wang ZG	2012

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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	PubmedIds
1	DHTKD1	Dehydrogenase E1 And Transketolase Domain Containing 1	Protein Coding	1427.32	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Genetic Tests ³⁰ Unconfirmed association ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	23141294 20301462
2	EGR2	Early Growth Response 2	Protein Coding	15.61	DISEASES inferred ¹⁵
3	MPZ	Myelin Protein Zero	Protein Coding	15.51	DISEASES inferred ¹⁵
4	GJB1	Gap Junction Protein Beta 1	Protein Coding	15.24	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 (show all 12)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	DHTKD1	NM_018706.6(DHTKD1): c.1455T> G (p.Tyr485Ter)	single nucleotide variant	Pathogenic	rs606231237	GRCh38	Chromosome 10, 12097780: 12097780
2	DHTKD1	NM_018706.6(DHTKD1): c.1455T> G (p.Tyr485Ter)	single nucleotide variant	Pathogenic	rs606231237	GRCh37	Chromosome 10, 12139779: 12139779
3	DHTKD1	NM_018706.6(DHTKD1): c.2500C> T (p.Arg834Ter)	single nucleotide variant	Likely pathogenic	rs770649540	GRCh37	Chromosome 10, 12160845: 12160845
4	DHTKD1	NM_018706.6(DHTKD1): c.2500C> T (p.Arg834Ter)	single nucleotide variant	Likely pathogenic	rs770649540	GRCh38	Chromosome 10, 12118846: 12118846
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

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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	Neural Crest Differentiation ¹	10.63	GJB1 MPZ

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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

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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

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

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