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 ⁵³ ⁷²

Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2 ⁵⁷ ⁵³ ¹³

X-Linked Charcot-Marie-Tooth Disease Type 2 ¹² ⁵³ ⁵⁹

Cmtx2 ⁵⁷ ¹² ⁵⁹

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

Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive ⁷⁵

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 ⁵³

Cmtx 2 ⁵³

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

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:

³²

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

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Diseases of the nervous system

Polyneuropathies and other disorders of the peripheral nervous system

Hereditary and idiopathic neuropathy

Hereditary motor and sensory neuropathy

Orphanet: ⁵⁹

Rare neurological diseases

Rare otorhinolaryngological diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0110208

OMIM ⁵⁷ 302801 PS118220

ICD10 ³³ G60.0

ICD10 via Orphanet ³⁴ G60.0

UMLS via Orphanet ⁷³ C1844873

Orphanet ⁵⁹ ORPHA101076

MedGen ⁴² C1844873

UMLS ⁷² 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, x-linked recessive, 3. 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 : ⁷⁵ Charcot-Marie-Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group of... 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
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:

#	Related Disease	Score	Top Affiliating Genes
1	x-linked charcot-marie-tooth disease	11.3
2	charcot-marie-tooth disease, x-linked recessive, 3	9.6	SULT2B1 GJB1
3	charcot-marie-tooth disease, demyelinating, type 1b	9.6	SULT2B1 GJB1
4	charcot-marie-tooth disease, axonal, type 2b	9.6	SULT2B1 GJB1
5	charcot-marie-tooth disease, demyelinating, type 1d	9.5	SULT2B1 GJB1
6	charcot-marie-tooth disease and deafness	9.5	SULT2B1 GJB1
7	hypertrophic neuropathy of dejerine-sottas	9.4	SULT2B1 GJB1
8	charcot-marie-tooth disease, axonal, type 2e	9.2	SULT2B1 GJB1

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:

⁵⁹ ³² (show all 25)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	areflexia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001284
2	sensory neuropathy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000763
3	pes cavus ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001761
4	lower limb muscle weakness ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007340
5	abnormal nerve conduction velocity ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0040129
6	distal upper limb amyotrophy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007149
7	seizures ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001250
8	impaired pain sensation ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0007328
9	ataxia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001251
10	gait disturbance ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001288
11	tremor ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001337
12	scoliosis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002650
13	kyphosis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002808
14	language impairment ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002463
15	excessive daytime somnolence ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001262
16	intellectual disability ³²	occasional (7.5%)		HP:0001249
17	distal amyotrophy ³²	occasional (7.5%)		HP:0003693
18	peripheral neuropathy ⁵⁹		Very frequent (99-80%)
19	decreased motor nerve conduction velocity ³²			HP:0003431
20	foot dorsiflexor weakness ³²			HP:0009027
21	upper limb muscle weakness ³²			HP:0003484
22	distal muscle weakness ³²			HP:0002460
23	steppage gait ³²			HP:0003376
24	distal sensory impairment ³²			HP:0002936
25	emg: axonal abnormality ³²			HP:0003482

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

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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 ⁷¹	Bird TD	20301532	1998
2	X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study. ⁸	Ionasescu VV...Searby C	1557086	1992
3	Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. ⁸	Ionasescu VV...Searby C	1674639	1991
4	Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics. ³⁸	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	SULT2B1	Sulfotransferase Family 2B Member 1	Protein Coding	16.19	DISEASES inferred ¹⁵
3	GJB1	Gap Junction Protein Beta 1	Protein Coding	15.8	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

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⁷⁵ 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:

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

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