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 ⁵⁶ ⁵² ⁷¹

Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2 ⁵⁶ ⁵² ¹³

X-Linked Charcot-Marie-Tooth Disease Type 2 ¹² ⁵² ⁵⁸

Cmtx2 ⁵⁶ 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 ⁵²

Cmtx 2 ⁵²

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

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 ⁵⁶ 302801

OMIM Phenotypic Series ⁵⁶ 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 sensory neuropathy and areflexia

Wikipedia : ⁷⁴ Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathies of the peripheral... 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 70)

#	Related Disease	Score	Top Affiliating Genes
1	x-linked charcot-marie-tooth disease	32.5	PRPS1 GJB1
2	charcot-marie-tooth disease	27.7	SULT2B1 PRPS1 PES1 MPZ MFN2 LITAF
3	charcot-marie-tooth disease, x-linked dominant, 6	10.3	PRPS1 GJB1
4	charcot-marie-tooth disease, x-linked recessive, 5	10.3	PRPS1 GJB1
5	spinal muscular atrophy with lower extremity predominance	10.3	PES1 DYNC1H1
6	spinal muscular atrophy, distal, x-linked 3	10.2	PES1 GJB1
7	charcot-marie-tooth disease, dominant intermediate a	10.2	MPZ GJB1
8	autoimmune peripheral neuropathy	10.2	MPZ GJB1
9	charcot-marie-tooth disease, axonal, type 2i	10.2	MPZ GJB1
10	charcot-marie-tooth disease, dominant intermediate e	10.1	MPZ DYNC1H1
11	charcot-marie-tooth disease, dominant intermediate c	10.1	MPZ GJB1
12	charcot-marie-tooth disease, type 4b3	10.1	PRPS1 MPZ
13	microcephaly and chorioretinopathy 1	10.1	SMAD9 PES1
14	mononeuropathy	10.1	PES1 MPZ
15	nerve compression syndrome	10.0	PES1 MPZ
16	charcot-marie-tooth disease, axonal, type 2j	10.0	MPZ EGR2
17	autosomal dominant non-syndromic intellectual disability 24	10.0	SMAD9 DYNC1H1
18	charcot-marie-tooth disease, dominant intermediate b	10.0	MPZ LITAF GJB1
19	charcot-marie-tooth disease, type 4b2	9.9	MPZ LITAF GJB1
20	charcot-marie-tooth disease, axonal, type 2b	9.9	MPZ LITAF GJB1
21	charcot-marie-tooth disease, type 4c	9.9	MPZ LITAF GJB1
22	charcot-marie-tooth disease, type 4j	9.9	MPZ LITAF
23	asymmetric motor neuropathy	9.9	PES1 MFN2
24	charcot-marie-tooth disease, type 4b1	9.9	MPZ LITAF
25	combined oxidative phosphorylation deficiency 7	9.9	PES1 MFN2
26	waardenburg syndrome, type 4a	9.9	MPZ GJB1
27	peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease	9.8	MPZ GJB1 EGR2
28	argyll robertson pupil	9.8	PES1 MPZ EGR2
29	pupil disease	9.8	PES1 MPZ EGR2
30	abnormal pupillary function	9.8	PES1 MPZ EGR2
31	charcot-marie-tooth disease x-linked recessive 4	9.8	PRPS1 PES1 MPZ GJB1
32	distal hereditary motor neuronopathy type 2	9.8	MPZ BSCL2
33	phimosis	9.8	PES1 MFN2
34	spinal muscular atrophy, distal, autosomal recessive, 2	9.8	MFN2 BSCL2
35	charcot-marie-tooth disease, axonal, type 2a1	9.8	MPZ MFN2
36	charcot-marie-tooth disease, demyelinating, type 1f	9.7	MPZ LITAF GJB1 DYNC1H1
37	umbilical hernia	9.7	PES1 BSCL2
38	charcot-marie-tooth disease, axonal, type 2w	9.6	MPZ MFN2 GJB1
39	charcot-marie-tooth disease, axonal, type 2b2	9.6	MPZ MFN2
40	hereditary neuropathies	9.6	MPZ MFN2 GJB1
41	hereditary motor and sensory neuropathy, type iic	9.6	MPZ MFN2 GJB1
42	charcot-marie-tooth disease, type 4d	9.6	MPZ LITAF GJB1 EGR2
43	charcot-marie-tooth disease, demyelinating, type 1c	9.6	MPZ LITAF GJB1 EGR2
44	genetic motor neuron disease	9.6	MPZ MFN2 DYNC1H1
45	charcot-marie-tooth disease, axonal, type 2l	9.5	MPZ MFN2 BSCL2
46	charcot-marie-tooth disease, demyelinating, type 4f	9.4	PES1 MPZ LITAF GJB1 EGR2
47	charcot-marie-tooth disease intermediate type	9.4	MPZ MFN2 LITAF GJB1
48	charcot-marie-tooth disease, demyelinating, type 1d	9.4	SULT2B1 MPZ LITAF GJB1 EGR2
49	charcot-marie-tooth disease, axonal, type 2d	9.3	MPZ MFN2 GJB1 BSCL2
50	motor neuron disease	9.3	MPZ MFN2 DYNC1H1 BSCL2

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	sensory neuropathy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000763
2	areflexia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001284
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	kyphosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002808
11	gait disturbance ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001288
12	ataxia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001251
13	tremor ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001337
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:

⁵⁶

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

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

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	9.91	BSCL2 DYNC1H1 EGR2 ERBB3 GJB1 MFN2
2	homeostasis/metabolism	MP:0005376	9.81	BSCL2 EGR2 ERBB3 GJB1 LITAF MFN2
3	mortality/aging	MP:0010768	9.65	BSCL2 DYNC1H1 EGR2 ERBB3 GJB1 MFN2
4	nervous system	MP:0003631	9.28	BSCL2 DYNC1H1 EGR2 ERBB3 GJB1 LITAF

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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	Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview ⁶	Bird TD	20301532	1998
2	X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study. ⁵⁶	Ionasescu VV...Searby C	1557086	1992
3	Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. ⁵⁶	Ionasescu VV...Searby C	1674639	1991
4	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):

(show all 13)

- 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 ⁵⁶
2	GJB1	Gap Junction Protein Beta 1	Protein Coding	7.4	DISEASES inferred ¹⁵
3	PRPS1	Phosphoribosyl Pyrophosphate Synthetase 1	Protein Coding	6.42	DISEASES inferred ¹⁵
4	PES1	Pescadillo Ribosomal Biogenesis Factor 1	Protein Coding	6.05	DISEASES inferred ¹⁵
5	SULT2B1	Sulfotransferase Family 2B Member 1	Protein Coding	5.92	DISEASES inferred ¹⁵
6	DYNC1H1	Dynein Cytoplasmic 1 Heavy Chain 1	Protein Coding	5.15	DISEASES inferred ¹⁵
7	LITAF	Lipopolysaccharide Induced TNF Factor	Protein Coding	5.1	DISEASES inferred ¹⁵
8	BSCL2	BSCL2 Lipid Droplet Biogenesis Associated, Seipin	Protein Coding	4.64	DISEASES inferred ¹⁵
9	MPZ	Myelin Protein Zero	Protein Coding	4.59	DISEASES inferred ¹⁵
10	EGR2	Early Growth Response 2	Protein Coding	4.31	DISEASES inferred ¹⁵
11	SMAD9	SMAD Family Member 9	Protein Coding	4.2	DISEASES inferred ¹⁵
12	MFN2	Mitofusin 2	Protein Coding	3.93	DISEASES inferred ¹⁵
13	ERBB3	Erb-B2 Receptor Tyrosine Kinase 3	Protein Coding	3.53	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	peripheral nervous system development	GO:0007422	9.16	ERBB3 EGR2
2	positive regulation of cold-induced thermogenesis	GO:0120162	9.13	MFN2 DYNC1H1 BSCL2
3	Schwann cell differentiation	GO:0014037	8.62	ERBB3 EGR2

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

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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