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 ⁵⁸ ⁵⁴ ⁷⁴

Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2 ⁵⁸ ⁵⁴ ¹³

X-Linked Charcot-Marie-Tooth Disease Type 2 ¹² ⁵⁴ ⁶⁰

Cmtx2 ⁵⁸ ¹² ⁶⁰

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

Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive ⁷⁷

Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 2 ³⁰

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

Charcot Marie Tooth Disease X-Linked Recessive 2 ⁵⁴

Cmtx 2 ⁵⁴

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

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:

³³

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: ³⁴ ³⁵

Diseases of the nervous system

Polyneuropathies and other disorders of the peripheral nervous system

Hereditary and idiopathic neuropathy

Hereditary motor and sensory neuropathy

Orphanet: ⁶⁰

Rare neurological diseases

Rare otorhinolaryngological diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0110208

OMIM ⁵⁸ 302801

ICD10 ³⁴ G60.0

ICD10 via Orphanet ³⁵ G60.0

UMLS via Orphanet ⁷⁵ C1844873

Orphanet ⁶⁰ ORPHA101076

MedGen ⁴³ C1844873

UMLS ⁷⁴ 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 cone-rod dystrophy and hearing loss 2. 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 sensory neuropathy and pes cavus

Wikipedia : ⁷⁷ Charcot–Marie–Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group of... more...

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	11.2
2	cone-rod dystrophy and hearing loss 2	11.1
3	charcot-marie-tooth disease, x-linked recessive, 3	9.8	GJB1 SULT2B1
4	charcot-marie-tooth disease, demyelinating, type 1b	9.8	GJB1 SULT2B1
5	charcot-marie-tooth disease, axonal, type 2b	9.7	GJB1 SULT2B1
6	charcot-marie-tooth disease, demyelinating, type 1d	9.7	GJB1 SULT2B1
7	charcot-marie-tooth disease and deafness	9.7	GJB1 SULT2B1
8	hypertrophic neuropathy of dejerine-sottas	9.6	GJB1 SULT2B1
9	charcot-marie-tooth disease, axonal, type 2e	9.5	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

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

⁶⁰ ³³ (show all 25)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	sensory neuropathy ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000763
2	pes cavus ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001761
3	areflexia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001284
4	lower limb muscle weakness ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0007340
5	abnormal nerve conduction velocity ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0040129
6	distal upper limb amyotrophy ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0007149
7	seizures ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001250
8	impaired pain sensation ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0007328
9	ataxia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001251
10	gait disturbance ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001288
11	tremor ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001337
12	scoliosis ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002650
13	kyphosis ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002808
14	language impairment ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002463
15	excessive daytime somnolence ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001262
16	intellectual disability ³³	occasional (7.5%)		HP:0001249
17	distal amyotrophy ³³	occasional (7.5%)		HP:0003693
18	peripheral neuropathy ⁶⁰		Very frequent (99-80%)
19	decreased motor nerve conduction velocity ³³			HP:0003431
20	foot dorsiflexor weakness ³³			HP:0009027
21	upper limb muscle weakness ³³			HP:0003484
22	distal muscle weakness ³³			HP:0002460
23	steppage gait ³³			HP:0003376
24	distal sensory impairment ³³			HP:0002936
25	emg: axonal abnormality ³³			HP:0003482

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

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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 ³⁰

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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:

⁴²

Eye

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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 ⁵⁸
2	SULT2B1	Sulfotransferase Family 2B Member 1	Protein Coding	16.23	DISEASES inferred ¹⁵
3	GJB1	Gap Junction Protein Beta 1	Protein Coding	15.85	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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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 X-Linked Charcot-Marie-Tooth Disease 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

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

Publications for 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

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