Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:

Name: Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 ⁵⁷ ²⁰ ⁷¹

Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2 ⁵⁷ ²⁰ ¹³

X-Linked Charcot-Marie-Tooth Disease Type 2 ¹² ²⁰ ⁵⁸

Cmtx2 ⁵⁷ ¹² ⁵⁸

Charcot-Marie-Tooth Disease X-Linked Recessive 2 ¹² ¹⁵

Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive ⁷⁴

Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 2 ²⁹

Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2 ¹²

Charcot Marie Tooth Disease X-Linked Recessive 2 ²⁰

Cmtx 2 ²⁰

Characteristics:

Orphanet epidemiological data:

⁵⁸

x-linked charcot-marie-tooth disease type 2
Inheritance: X-linked recessive;

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Miscellaneous:
onset in infancy
usually begins in feet and legs (peroneal distribution)
upper limb involvement may occur later
both demyelinating and axonal features
see also cmtx1 and cmt3x

Inheritance:
x-linked recessive

HPO:

³¹

charcot-marie-tooth disease, x-linked recessive, 2:
Onset and clinical course infantile onset
Inheritance x-linked recessive inheritance

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Metabolic diseases
Anatomical: Neuronal diseases Ear diseases Eye diseases Muscle diseases Mental 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

Rare otorhinolaryngological diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0110208

OMIM® ⁵⁷ 302801

OMIM Phenotypic Series ⁵⁷ PS118220

ICD10 ³² G60.0

ICD10 via Orphanet ³³ G60.0

UMLS via Orphanet ⁷² C1844873

Orphanet ⁵⁸ ORPHA101076

MedGen ⁴¹ C1844873

UMLS ⁷¹ C1844873

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Summaries for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Disease Ontology : ¹² A Charcot-Marie-Tooth disease X-linked that has material basis in variation in the region Xp22.2.

MalaCards based summary : Charcot-Marie-Tooth Disease, X-Linked Recessive, 2, also known as charcot-marie-tooth neuropathy, x-linked recessive, 2, is related to x-linked charcot-marie-tooth disease and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 is CMTX2 (Charcot-Marie-Tooth Neuropathy, X-Linked 2 (Recessive)). Related phenotypes are areflexia and sensory neuropathy

Wikipedia : ⁷⁴ Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous... more...

More information from OMIM: 302801 PS118220

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Related Diseases for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Diseases in the Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 family:

Charcot-Marie-Tooth Disease, X-Linked Dominant, 6	Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Charcot-Marie-Tooth Disease X-Linked Recessive 4	X-Linked Charcot-Marie-Tooth Disease

Diseases related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)

#	Related Disease	Score	Top Affiliating Genes
1	x-linked charcot-marie-tooth disease	31.7	PRPS1 GJB1
2	charcot-marie-tooth disease	29.2	PRPS1 MPZ MFN2 LITAF GJB1 EGR2
3	charcot-marie-tooth disease type 5	10.2	PRPS1 DYNC1H1
4	charcot-marie-tooth disease, x-linked recessive, 5	10.2	PRPS1 GJB1
5	charcot-marie-tooth disease, dominant intermediate a	10.1	MPZ GJB1
6	slowed nerve conduction velocity, autosomal dominant	10.1	MPZ GJB1
7	charcot-marie-tooth disease, axonal, type 2w	10.1	MPZ GJB1
8	autoimmune peripheral neuropathy	10.1	MPZ GJB1
9	charcot-marie-tooth disease, axonal, type 2i	10.1	MPZ GJB1
10	charcot-marie-tooth disease, dominant intermediate c	10.1	MPZ GJB1
11	charcot-marie-tooth disease, dominant intermediate e	10.1	MPZ DYNC1H1
12	brachial plexus neuropathy	10.0	MPZ GJB1
13	charcot-marie-tooth disease, type 4b3	10.0	PRPS1 MPZ
14	genetic motor neuron disease	10.0	MPZ MFN2
15	spinal muscular atrophy, distal, autosomal recessive, 2	10.0	MFN2 BSCL2
16	charcot-marie-tooth disease, axonal, type 2a1	10.0	MPZ MFN2
17	charcot-marie-tooth disease, dominant intermediate b	10.0	MPZ LITAF
18	charcot-marie-tooth disease, type 4j	10.0	MPZ LITAF
19	pupil disease	10.0	MPZ EGR2
20	argyll robertson pupil	9.9	MPZ EGR2
21	charcot-marie-tooth disease x-linked recessive 4	9.9	PRPS1 MPZ GJB1
22	abnormal pupillary function	9.9	MPZ EGR2
23	charcot-marie-tooth disease, type 4b1	9.9	MPZ LITAF
24	charcot-marie-tooth disease, axonal, type 2j	9.9	MPZ EGR2
25	waardenburg syndrome, type 4a	9.9	MPZ GJB1
26	charcot-marie-tooth disease, type 4c	9.9	MPZ LITAF GJB1
27	charcot-marie-tooth disease, axonal, type 2b2	9.9	MPZ MFN2
28	distal hereditary motor neuronopathy type 2	9.9	MPZ BSCL2
29	nerve compression syndrome	9.8	MPZ GJB1
30	hereditary neuropathies	9.8	MPZ MFN2 GJB1
31	hereditary motor and sensory neuropathy, type iic	9.8	MPZ MFN2 GJB1
32	spinal muscular atrophy	9.8	LITAF DYNC1H1 BSCL2
33	peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease	9.8	MPZ GJB1 EGR2
34	charcot-marie-tooth disease, axonal, type 2l	9.8	MPZ MFN2 BSCL2
35	spinocerebellar ataxia, autosomal recessive 20	9.8	SMAD9 BSCL2
36	charcot-marie-tooth disease, demyelinating, type 4f	9.7	MPZ LITAF EGR2
37	charcot-marie-tooth disease, demyelinating, type 1f	9.7	MPZ LITAF GJB1 DYNC1H1
38	neuronopathy, distal hereditary motor, type va	9.7	MFN2 BSCL2
39	charcot-marie-tooth disease intermediate type	9.6	MPZ MFN2 LITAF GJB1
40	motor peripheral neuropathy	9.6	MFN2 LITAF DYNC1H1 BSCL2
41	charcot-marie-tooth disease, axonal, type 2b	9.6	MPZ MFN2 LITAF GJB1
42	polyneuropathy	9.6	MPZ MFN2 LITAF GJB1
43	charcot-marie-tooth disease, axonal, type 2d	9.6	MPZ MFN2 GJB1 BSCL2
44	charcot-marie-tooth disease, demyelinating, type 1d	9.6	MPZ LITAF GJB1 EGR2
45	charcot-marie-tooth disease, type 4d	9.6	MPZ LITAF GJB1 EGR2
46	charcot-marie-tooth disease, type 4b2	9.6	MPZ LITAF GJB1 EGR2
47	motor neuron disease	9.6	MPZ MFN2 DYNC1H1 BSCL2
48	charcot-marie-tooth disease, axonal, type 2f	9.4	MPZ MFN2 LITAF GJB1 BSCL2
49	charcot-marie-tooth disease, x-linked dominant, 1	9.3	MPZ MFN2 LITAF GJB1 EGR2
50	charcot-marie-tooth disease, type 4a	9.3	MPZ MFN2 LITAF GJB1 EGR2

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:

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Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Human phenotypes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:

⁵⁸ ³¹ (show all 26)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	areflexia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001284
2	sensory neuropathy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000763
3	pes cavus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001761
4	distal upper limb amyotrophy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007149
5	abnormal nerve conduction velocity ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0040129
6	lower limb muscle weakness ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007340
7	impaired pain sensation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007328
8	seizure ³¹	frequent (33%)		HP:0001250
9	scoliosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002650
10	ataxia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001251
11	gait disturbance ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001288
12	tremor ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001337
13	kyphosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002808
14	excessive daytime somnolence ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001262
15	language impairment ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002463
16	intellectual disability ³¹	occasional (7.5%)		HP:0001249
17	distal amyotrophy ³¹	occasional (7.5%)		HP:0003693
18	seizures ⁵⁸		Frequent (79-30%)
19	peripheral neuropathy ⁵⁸		Very frequent (99-80%)
20	decreased motor nerve conduction velocity ³¹			HP:0003431
21	steppage gait ³¹			HP:0003376
22	distal muscle weakness ³¹			HP:0002460
23	distal sensory impairment ³¹			HP:0002936
24	upper limb muscle weakness ³¹			HP:0003484
25	foot dorsiflexor weakness ³¹			HP:0009027
26	emg: axonal abnormality ³¹			HP:0003482

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Neurologic Peripheral Nervous System:
areflexia
'steppage' gait
foot drop
distal muscle atrophy due to peripheral neuropathy
distal muscle weakness due to peripheral neuropathy
more

Neurologic Central Nervous System:
mental retardation has been reported

Skeletal Feet:
pes cavus

Clinical features from OMIM®:

302801 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	mortality/aging	MP:0010768	9.56	BSCL2 DYNC1H1 EGR2 GJB1 MFN2 MPZ
2	nervous system	MP:0003631	9.23	BSCL2 DYNC1H1 EGR2 GJB1 LITAF MFN2

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Drugs & Therapeutics for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

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Genetic Tests for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Genetic tests related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:

#	Genetic test	Affiliating Genes
1	Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 2 ²⁹

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Anatomical Context for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

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Publications for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Articles related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:

#	Title	Authors	PMID	Year
1	X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study. ⁵⁷	Ionasescu VV...Searby C	1557086	1992
2	Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. ⁵⁷	Ionasescu VV...Searby C	1674639	1991
3	Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics. ⁶¹	Ionasescu VV	7870103	1995

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Genes for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Genes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	CMTX2	Charcot-Marie-Tooth Neuropathy, X-Linked 2 (Recessive)	Genetic Locus	50	Genetic linkage ⁵⁷
2	GJB1	Gap Junction Protein Beta 1	Protein Coding	7.49	DISEASES inferred ¹⁵
3	PRPS1	Phosphoribosyl Pyrophosphate Synthetase 1	Protein Coding	6.55	DISEASES inferred ¹⁵
4	DYNC1H1	Dynein Cytoplasmic 1 Heavy Chain 1	Protein Coding	5.25	DISEASES inferred ¹⁵
5	LITAF	Lipopolysaccharide Induced TNF Factor	Protein Coding	5.22	DISEASES inferred ¹⁵
6	BSCL2	BSCL2 Lipid Droplet Biogenesis Associated, Seipin	Protein Coding	4.85	DISEASES inferred ¹⁵
7	MPZ	Myelin Protein Zero	Protein Coding	4.7	DISEASES inferred ¹⁵
8	EGR2	Early Growth Response 2	Protein Coding	4.41	DISEASES inferred ¹⁵
9	SMAD9	SMAD Family Member 9	Protein Coding	4.32	DISEASES inferred ¹⁵
10	MFN2	Mitofusin 2	Protein Coding	4.12	DISEASES inferred ¹⁵

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Variations for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

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Expression for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2.

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Pathways for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

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GO Terms for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Biological processes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	fat cell differentiation	GO:0045444	9.16	EGR2 BSCL2
2	myelination	GO:0042552	8.96	MPZ EGR2
3	positive regulation of cold-induced thermogenesis	GO:0120162	8.8	MFN2 DYNC1H1 BSCL2

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Sources for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

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⁶⁷ SNOMED-CT

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 (CMTX2)

Aliases & Classifications for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Related Diseases for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Diseases in the Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 family:

Diseases related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Human phenotypes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Genetic Tests for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Genetic tests related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:

Anatomical Context for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Publications for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Articles related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:

Genes for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Genes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 (1 elite genes):

Variations for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Expression for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Pathways for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

GO Terms for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

Biological processes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 according to GeneCards Suite gene sharing:

Sources for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2