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)). Affiliated tissues include eye, and related phenotypes are areflexia and sensory neuropathy

Wikipedia : ⁷⁴ Charcot-Marie-Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies of the... 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 60)

#	Related Disease	Score	Top Affiliating Genes
1	x-linked charcot-marie-tooth disease	32.4	PRPS1 GJB1
2	charcot-marie-tooth disease	27.6	SULT2B1 SNCA PRPS1 PES1 MPZ LITAF
3	charcot-marie-tooth disease, x-linked recessive, 5	10.3	PRPS1 GJB1
4	charcot-marie-tooth disease, dominant intermediate a	10.2	MPZ GJB1
5	argyll robertson pupil	10.2	PES1 MPZ
6	autoimmune peripheral neuropathy	10.2	MPZ GJB1
7	pupil disease	10.2	PES1 MPZ
8	charcot-marie-tooth disease, axonal, type 2f	10.1	MPZ GJB1
9	charcot-marie-tooth disease, dominant intermediate e	10.1	MPZ DYNC1H1
10	hereditary neuropathies	10.1	MPZ GJB1
11	charcot-marie-tooth disease, axonal, type 2a1	10.1	MPZ DYNC1H1
12	hereditary motor and sensory neuropathy, type iic	10.1	MPZ GJB1
13	charcot-marie-tooth disease, axonal, type 2l	10.0	MPZ BSCL2
14	microcephaly and chorioretinopathy 1	10.0	SMAD9 PES1
15	mononeuropathy	10.0	PES1 MPZ
16	charcot-marie-tooth disease, axonal, type 2cc	10.0	PES1 MPZ GJB1
17	nerve compression syndrome	10.0	PES1 MPZ
18	charcot-marie-tooth disease intermediate type	10.0	MPZ LITAF GJB1
19	charcot-marie-tooth disease, dominant intermediate b	9.9	MPZ LITAF GJB1
20	charcot-marie-tooth disease, type 4b2	9.9	MPZ LITAF GJB1
21	charcot-marie-tooth disease, axonal, type 2b	9.9	MPZ LITAF GJB1
22	charcot-marie-tooth disease, axonal, type 2d	9.9	MPZ GJB1 BSCL2
23	charcot-marie-tooth disease, type 4b1	9.9	MPZ LITAF
24	mental retardation, autosomal dominant 24	9.9	SMAD9 DYNC1H1
25	charcot-marie-tooth disease, x-linked dominant, 6	9.9	SMAD9 PRPS1 GJB1
26	peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease	9.8	MPZ GJB1 EGR2
27	charcot-marie-tooth disease, type 4a	9.8	MPZ GJB1 EGR2
28	coenzyme q10 deficiency, primary, 1	9.8	SNCA SMAD9
29	abnormal pupillary function	9.8	PES1 MPZ EGR2
30	charcot-marie-tooth disease x-linked recessive 4	9.8	PRPS1 PES1 MPZ GJB1
31	charcot-marie-tooth disease, axonal, type 2j	9.8	PES1 MPZ EGR2
32	charcot-marie-tooth disease type 2a2a	9.8	PES1 MPZ LITAF GJB1
33	charcot-marie-tooth disease, axonal, type 2i	9.8	PES1 MPZ LITAF GJB1
34	perry syndrome	9.8	SNCA DYNC1H1
35	charcot-marie-tooth disease, demyelinating, type 1f	9.7	MPZ LITAF GJB1 DYNC1H1
36	waardenburg syndrome, type 4a	9.7	MPZ GJB1
37	charcot-marie-tooth disease, demyelinating, type 4f	9.6	MPZ LITAF GJB1 EGR2
38	charcot-marie-tooth disease, type 4d	9.6	MPZ LITAF GJB1 EGR2
39	charcot-marie-tooth disease, type 4c	9.6	MPZ LITAF GJB1 EGR2
40	charcot-marie-tooth disease, demyelinating, type 1c	9.6	MPZ LITAF GJB1 EGR2
41	charcot-marie-tooth disease/hereditary motor and sensory neuropathy	9.5	MPZ GJB1 EGR2
42	motor peripheral neuropathy	9.5	PES1 LITAF GJB1 DYNC1H1 BSCL2
43	polyneuropathy	9.5	MPZ LITAF GJB1 EGR2
44	spinal muscular atrophy	9.5	SNCA LITAF DYNC1H1 BSCL2
45	charcot-marie-tooth disease type x	9.4	PRPS1 PES1 MPZ GJB1 EGR2
46	neuropathy	9.4	PRPS1 MPZ GJB1 EGR2 DYNC1H1
47	charcot-marie-tooth disease, axonal, type 2q	9.4	PES1 MPZ GJB1 EGR2 DYNC1H1
48	charcot-marie-tooth disease, x-linked dominant, 1	9.4	PES1 MPZ LITAF GJB1 EGR2
49	charcot-marie-tooth disease, demyelinating, type 1a	9.4	PES1 MPZ LITAF GJB1 EGR2
50	charcot-marie-tooth disease, demyelinating, type 1d	9.4	SULT2B1 MPZ 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 25)

#	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	lower limb muscle weakness ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007340
5	abnormal nerve conduction velocity ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0040129
6	distal upper limb amyotrophy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007149
7	seizures ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001250
8	impaired pain sensation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007328
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	language impairment ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002463
15	excessive daytime somnolence ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001262
16	intellectual disability ³¹	occasional (7.5%)		HP:0001249
17	distal amyotrophy ³¹	occasional (7.5%)		HP:0003693
18	peripheral neuropathy ⁵⁸		Very frequent (99-80%)
19	decreased motor nerve conduction velocity ³¹			HP:0003431
20	foot dorsiflexor weakness ³¹			HP:0009027
21	upper limb muscle weakness ³¹			HP:0003484
22	distal muscle weakness ³¹			HP:0002460
23	steppage gait ³¹			HP:0003376
24	distal sensory impairment ³¹			HP:0002936
25	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	behavior/neurological	MP:0005386	9.92	BSCL2 DYNC1H1 EGR2 ERBB3 GJB1 MPZ
2	growth/size/body region	MP:0005378	9.91	BSCL2 DYNC1H1 EGR2 ERBB3 GJB1 MPZ
3	homeostasis/metabolism	MP:0005376	9.81	BSCL2 EGR2 ERBB3 GJB1 LITAF MPZ
4	mortality/aging	MP:0010768	9.65	BSCL2 DYNC1H1 EGR2 ERBB3 GJB1 MPZ
5	nervous system	MP:0003631	9.23	DYNC1H1 EGR2 ERBB3 GJB1 LITAF MPZ

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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

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:

⁴⁰

Eye

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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	7.41	DISEASES inferred ¹⁵
3	PRPS1	Phosphoribosyl Pyrophosphate Synthetase 1	Protein Coding	6.46	DISEASES inferred ¹⁵
4	PES1	Pescadillo Ribosomal Biogenesis Factor 1	Protein Coding	6.08	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	5.19	DISEASES inferred ¹⁵
7	LITAF	Lipopolysaccharide Induced TNF Factor	Protein Coding	5.13	DISEASES inferred ¹⁵
8	BSCL2	BSCL2 Lipid Droplet Biogenesis Associated, Seipin	Protein Coding	4.67	DISEASES inferred ¹⁵
9	MPZ	Myelin Protein Zero	Protein Coding	4.62	DISEASES inferred ¹⁵
10	EGR2	Early Growth Response 2	Protein Coding	4.33	DISEASES inferred ¹⁵
11	SMAD9	SMAD Family Member 9	Protein Coding	4.24	DISEASES inferred ¹⁵
12	ERBB3	Erb-B2 Receptor Tyrosine Kinase 3	Protein Coding	3.53	DISEASES inferred ¹⁵
13	SNCA	Synuclein Alpha	Protein Coding	3.37	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	regulation of neuronal synaptic plasticity	GO:0048168	8.96	SNCA EGR2
3	Schwann cell differentiation	GO:0014037	8.62	ERBB3 EGR2

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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

MalaCards organs/tissues related to 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