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 ¹³ ⁷³

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

Cmtx2 ⁵⁷ ¹² ⁵⁹

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

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

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 Muscle diseases Eye 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:

OMIM ⁵⁷ 302801

Disease Ontology ¹² DOID:0110208

ICD10 ³³ G60.0

Orphanet ⁵⁹ ORPHA101076

UMLS via Orphanet ⁷⁴ C1844873

ICD10 via Orphanet ³⁴ G60.0

MedGen ⁴² C1844873

UMLS ⁷³ 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 x-linked charcot-marie-tooth disease type 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 seizures and ataxia

Description from OMIM: 302801

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

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

Charcot-Marie-Tooth Disease, X-Linked Dominant, 6	Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

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	11.0
2	charcot-marie-tooth disease, x-linked recessive, 3	9.6	GJB1 SULT2B1
3	charcot-marie-tooth disease, demyelinating, type 1b	9.6	GJB1 SULT2B1
4	charcot-marie-tooth disease, axonal, type 2b	9.5	GJB1 SULT2B1
5	charcot-marie-tooth disease, demyelinating, type 1d	9.5	GJB1 SULT2B1
6	charcot-marie-tooth disease and deafness	9.4	GJB1 SULT2B1
7	hypertrophic neuropathy of dejerine-sottas	9.3	GJB1 SULT2B1
8	neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive	9.2	GJB1 SULT2B1
9	charcot-marie-tooth disease, axonal, type 2e	9.0	GJB1 SULT2B1

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skeletal Feet:
pes cavus

Neurologic Central Nervous System:
mental retardation has been reported

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

Clinical features from OMIM:

302801

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

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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

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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	16.32	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	GJB1	Gap Junction Protein Beta 1	Protein Coding	15.96	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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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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