Charcot-Marie-Tooth Disease, Demyelinating, Type 1a disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:

Name: Charcot-Marie-Tooth Disease, Demyelinating, Type 1a ⁵⁷ ¹⁹

Charcot-Marie-Tooth Disease Type 1a ¹¹ ¹⁹ ⁵⁸ ⁷⁵ ¹⁴

Charcot-Marie-Tooth Disease, Type Ia ²⁸ ⁵ ³⁸ ⁷¹

Cmt1a ⁵⁷ ¹¹ ⁵⁸ ⁷³

Hmsn1a ⁵⁷ ¹¹ ⁷³

Hereditary Motor and Sensory Neuropathy Ia ⁵⁷ ⁷³

Hereditary Motor and Sensory Neuropathy 1a ¹¹ ¹⁹

Charcot-Marie-Tooth Neuropathy, Type 1a ⁵⁷ ⁵³

Charcot-Marie-Tooth Neuropathy Type 1a ¹¹ ⁷³

Charcot-Marie-Tooth Disease, Type 1a ⁵⁷ ¹²

Microduplication 17p12 ¹¹ ⁵⁸

Hmsn Ia ⁵⁷ ⁷³

Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1a ⁵⁷

Autosomal Dominant Charcot-Marie-Tooth Disease with Focally Folded Myelin Sheaths Type 1a ¹¹

Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked to Duffy ⁷³

Charcot-Marie-Tooth Disease Demyelinating Type 1a ⁷³

Charcot Marie Tooth Disease Type 1a ¹⁹

Charcot-Marie-Tooth Disease 1a ⁷³

Hmsn 1a ¹⁹

Cmt 1a ¹⁹

Characteristics:

Inheritance:

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a: Autosomal dominant ⁵⁷

Charcot-Marie-Tooth Disease Type 1a: Autosomal dominant ⁵⁸

Prevelance:

Charcot-Marie-Tooth Disease Type 1a: 6-9/10000 (Norway) 1-5/10000 (United Kingdom, Worldwide) ⁵⁸

Age Of Onset:

Charcot-Marie-Tooth Disease Type 1a: Childhood ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
slowly progressive
insidious onset
variable severity
onset in first or second decade
usually begins in feet and legs (peroneal distribution)
upper limb involvement usually occurs later
allelic disorders with overlapping phenotypes include dejerine-sottas syndrome (dss, ), hereditary neuropathy with liability to pressure palsies (hnpp, ), and cmt with deafness

HPO:

³⁰

charcot-marie-tooth disease, demyelinating, type 1a:
Onset and clinical course variable expressivity slowly progressive insidious onset

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Muscle diseases Skin diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

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

Developmental anomalies during embryogenesis

External Ids:

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Summaries for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

UniProtKB/Swiss-Prot: ⁷³ A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.

MalaCards based summary: Charcot-Marie-Tooth Disease, Demyelinating, Type 1a, also known as charcot-marie-tooth disease type 1a, is related to roussy-levy hereditary areflexic dystasia and charcot-marie-tooth disease, axonal, type 2a1. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1a is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways are Neural crest differentiation and Intracellular trafficking proteins involved in CMT neuropathy. The drugs Baclofen and Sorbitol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, tonsil and spinal cord, and related phenotypes are skeletal muscle atrophy and pes cavus

GARD: ¹⁹ Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. People with this disease experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they can also have hand weakness and sensory loss. CMT1A is caused by having an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner.

OMIM®: ⁵⁷ For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (118200). CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age (36,39:Lupski et al., 1991, 1992). (118220) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ A Charcot-Marie-Tooth disease type 1 that has material basis in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22).

Wikipedia: ⁷⁵ Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous... more...

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Related Diseases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Diseases in the Charcot-Marie-Tooth Disease, Demyelinating, Type 1b family:

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a	Charcot-Marie-Tooth Disease, Demyelinating, Type 1c
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d	Charcot-Marie-Tooth Disease, Demyelinating, Type 1f
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f	Charcot-Marie-Tooth Disease, Demyelinating, Type 1g
Charcot-Marie-Tooth Disease, Demyelinating, Type 1i	Charcot-Marie-Tooth Disease, Demyelinating, Type 1h
Charcot-Marie-Tooth Disease, Demyelinating, Type 1j

Diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 205)

#	Related Disease	Score	Top Affiliating Genes
1	roussy-levy hereditary areflexic dystasia	32.2	PMP22 MPZ
2	charcot-marie-tooth disease, axonal, type 2a1	31.6	MPZ MFN2 GDAP1 GARS1
3	hereditary sensory neuropathy	31.4	SH3TC2 MPZ GDAP1
4	polyradiculoneuropathy	31.0	PMP22 PMP2 MPZ
5	hereditary neuropathies	30.9	PRX PMP22 MTMR2 MPZ MFN2 GJB1
6	charcot-marie-tooth disease type 2a2a	30.8	MFN2 GDAP1
7	neuritis	30.6	PMP22 PMP2 MPZ
8	nerve compression syndrome	30.5	SH3TC2 PMP22 MPZ
9	demyelinating polyneuropathy	30.5	SH3TC2 PMP22 NEFL MPZ GJB1 EGR2
10	pelizaeus-merzbacher disease	30.3	PMP22 MPZ GJB1
11	motor peripheral neuropathy	30.3	SH3TC2 PMP22 NEFL MFN2 GARS1
12	polyneuropathy	30.1	SH3TC2 PRX PMP22 MPZ LITAF GJB1
13	carpal tunnel syndrome	30.1	SH3TC2 PMP22 MPZ
14	demyelinating disease	30.1	NTF3 NRG1 NEFL MPZ
15	charcot-marie-tooth disease, axonal, type 2b2	30.0	NEFL MPZ MFN2 GDAP1 GARS1
16	sensory peripheral neuropathy	29.4	SH3TC2 PRX PMP22 NTF3 MTMR2 MPZ
17	tooth disease	29.2	SH3TC2 SBF2 PRX PMP22 PMP2 NEFL
18	neuropathy, hereditary, with liability to pressure palsies	29.2	TEKT3 SH3TC2 SBF2 PRX PMP22 NEFL
19	charcot-marie-tooth disease, x-linked dominant, 1	29.1	SH3TC2 PMP22 NEFL MTMR2 MPZ MFN2
20	neuropathy	29.1	SH3TC2 SBF2 PRX PMP22 PMP2 NEFL
21	charcot-marie-tooth disease and deafness	29.1	TEKT3 SH3TC2 SBF2 PRX PMP22 PMP2
22	charcot-marie-tooth disease	29.1	TEKT3 SH3TC2 SBF2 PRX PMP22 PMP2
23	hypertrophic neuropathy of dejerine-sottas	29.0	SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
24	charcot-marie-tooth disease, type 4c	28.9	SH3TC2 SBF2 NEFL MTMR2 MPZ MFN2
25	charcot-marie-tooth disease, demyelinating, type 1b	28.5	SH3TC2 SBF2 PRX PMP22 NEFL MTMR2
26	peripheral nervous system disease	28.4	SH3TC2 SBF2 PRX PMP22 PMP2 NTF3
27	charcot-marie-tooth disease, axonal, type 2e	28.1	SH3TC2 SBF2 PRX PMP22 NTF3 NEFL
28	neuromuscular disease	27.6	SH3TC2 SBF2 PRX PMP22 PMP2 NRG1
29	neuropathy, congenital hypomyelinating, 1, autosomal recessive	27.6	TEKT3 SH3TC2 SBF2 PRX PMP22 PMP2
30	charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a	10.9
31	yuan-harel-lupski syndrome	10.9
32	tremor	10.6
33	papillon-lefevre syndrome	10.4
34	mononeuropathy of the median nerve, mild	10.4
35	progressive muscular atrophy	10.4
36	gdap1-related hereditary motor and sensory neuropathy	10.4
37	ulnar neuropathy	10.3	PMP22 MPZ
38	argyll robertson pupil	10.3	MPZ EGR2
39	abnormal pupillary function	10.3	MPZ EGR2
40	sciatic neuropathy	10.3	SH3TC2 PMP22
41	mononeuritis of lower limb	10.3	SH3TC2 PMP22
42	lesion of sciatic nerve	10.3	SH3TC2 PMP22
43	brachial plexus neuropathy	10.3	PMP22 MPZ GJB1
44	asymmetric motor neuropathy	10.3	PMP22 MFN2
45	peroneal neuropathy	10.3	PMP22 MPZ LITAF
46	muscular dystrophy, duchenne type	10.3
47	hypothyroidism	10.3
48	talipes equinovarus	10.3
49	genetic motor neuron disease	10.3	SH3TC2 MPZ MFN2
50	charcot-marie-tooth disease, dominant intermediate f	10.3	MPZ GDAP1

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:

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Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Human phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:

⁵⁸ ³⁰ (show all 39)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	skeletal muscle atrophy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003202
2	pes cavus ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001761
3	hyporeflexia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001265
4	decreased motor nerve conduction velocity ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003431
5	distal muscle weakness ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002460
6	distal sensory impairment ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002936
7	sensory ataxia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0010871
8	decreased sensory nerve conduction velocity ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003448
9	kyphoscoliosis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002751
10	paresthesia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0003401
11	gait imbalance ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002141
12	diaphragmatic weakness ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0009113
13	calf muscle hypertrophy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0008981
14	spontaneous pain sensation ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0010833
15	shoulder pain ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0030834
16	acute demyelinating polyneuropathy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007131
17	hyperactive deep tendon reflexes ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0006801
18	gait disturbance ⁵⁸		Frequent (79-30%)
19	hearing impairment ³⁰			HP:0000365
20	impaired pain sensation ³⁰			HP:0007328
21	areflexia ³⁰			HP:0001284
22	split hand ³⁰			HP:0001171
23	peripheral neuropathy ³⁰			HP:0009830
24	impaired vibratory sensation ³⁰			HP:0002495
25	steppage gait ³⁰			HP:0003376
26	foot dorsiflexor weakness ³⁰			HP:0009027
27	hammertoe ³⁰			HP:0001765
28	limb muscle weakness ³⁰			HP:0003690
29	demyelinating peripheral neuropathy ⁵⁸		Frequent (79-30%)
30	impaired temperature sensation ³⁰			HP:0010829
31	distal amyotrophy ³⁰			HP:0003693
32	decreased number of peripheral myelinated nerve fibers ³⁰			HP:0003380
33	segmental peripheral demyelination/remyelination ³⁰			HP:0003481
34	abnormal motor neuron morphology ³⁰			HP:0002450
35	onion bulb formation ³⁰			HP:0003383
36	cold-induced muscle cramps ³⁰			HP:0003449
37	myelin outfoldings ³⁰			HP:0004336
38	hypertrophic nerve changes ³⁰			HP:0003382
39	ulnar claw ³⁰			HP:0001178

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
cold-induced muscle cramps
hypertrophic nerve changes
more

Skeletal Spine:
kyphoscoliosis may occur

Skeletal Feet:
pes cavus
foot deformities
hammer toes

Skeletal Hands:
claw hand deformities (in severe cases)

Clinical features from OMIM®:

118220 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a according to GeneCards Suite gene sharing:

²⁵ (show all 27)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.17	ARHGEF10 EGR2 FGD4 FIG4 GARS1 GDAP1
2	no effect	GR00402-S-2	10.17	ARHGEF10 EGR2 FIG4 GDAP1 LITAF MFN2
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-101	10.09	FGD4
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-109	10.09	GARS1
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-140	10.09	FGD4
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-15	10.09	FGD4
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-153	10.09	GARS1
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-165	10.09	GARS1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-173	10.09	GARS1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-184	10.09	NRG1
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-192	10.09	GARS1
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-202	10.09	NRG1
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-205	10.09	FGD4
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-208	10.09	GARS1
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-210	10.09	GARS1
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-212	10.09	NRG1
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-213	10.09	NRG1
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-216	10.09	NRG1
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-26	10.09	GARS1
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-34	10.09	GARS1
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-40	10.09	NRG1
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	10.09	GARS1
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-56	10.09	FGD4
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	10.09	GARS1
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-71	10.09	FGD4
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-74	10.09	GARS1
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-92	10.09	FGD4 GARS1 NRG1

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.3	ARHGEF10 EGR2 FGD4 FIG4 GARS1 GDAP1
2	homeostasis/metabolism	MP:0005376	10	ARHGEF10 EGR2 FGD4 GARS1 GDAP1 GJB1
3	behavior/neurological	MP:0005386	9.93	ARHGEF10 EGR2 FGD4 FIG4 GARS1 GDAP1
4	muscle	MP:0005369	9.8	FIG4 GARS1 MFN2 NRG1 NTF3 PMP22
5	reproductive system	MP:0005389	9.32	EGR2 GDAP1 MFN2 MPZ MTMR2 NRG1

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Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Drugs for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Baclofen

Approved

Phase 3

1134-47-0

2284

Synonyms:

(+-)-Baclofen

4-Amino-3-(4-chlorophenyl)butyrate

4-Amino-3-(4-chlorophenyl)butyric acid

Alphapharm brand OF baclofen

apo Baclofen

apo-Baclofen

ApoBaclofen

Apotex brand OF baclofen

Ashbourne brand OF baclofen

ASTA medica brand OF baclofen

Athena brand OF baclofen

Atrofen

AWD, baclofen

b-(4-Chlorophenyl)gaba

b-(Aminomethyl)-4-chlorobenzenepropanoate

b-(Aminomethyl)-4-chlorobenzenepropanoic acid

b-(Aminomethyl)-p-chlorohydrocinnamate

b-(Aminomethyl)-p-chlorohydrocinnamic acid

b-(p-Chlorophenyl)-g-aminobutyrate

b-(p-Chlorophenyl)-g-aminobutyric acid

BA-34647

BACLOFEN

Baclofen alphapharm brand

Baclofen apotex brand

Baclofen ashbourne brand

Baclofen athena brand

Baclofen awd

Baclofen ciba-geigy brand

Baclofen irex brand

Baclofen isis brand

Baclofen medtronic brand

Baclofen novartis brand

Baclofen nu-pharm brand

Baclofen pharmascience brand

Baclofene

Baclofène

Baclofène irex

Baclofène-irex

BaclofèneIrex

Baclofeno

Baclofenum

Baclon®|Kemstro®|Lioresal®

Baclophen

Baclospas

BACLOSPAS-10

beta-(4-Chlorophenyl)gaba

beta-(Aminomethyl)-4-chlorobenzenepropanoate

beta-(Aminomethyl)-4-chlorobenzenepropanoic acid

beta-(Aminomethyl)-p-chlorohydrocinnamate

beta-(Aminomethyl)-p-chlorohydrocinnamic acid

beta-(p-Chlorophenyl)-gamma-aminobutyrate

beta-(p-Chlorophenyl)-gamma-aminobutyric acid

Chlorophenyl gaba

Ciba geigy brand OF baclofen

CIBA34,647ba

CIBA-34,647-ba

Ciba-geigy brand OF baclofen

Clofen

DL-4-Amino-3-p-chlorophenylbutanoate

DL-4-Amino-3-p-chlorophenylbutanoic acid

DL-Baclofen

GABA, chlorophenyl

GABLOFEN

g-Amino-b-(p-chlorophenyl)butyrate

g-Amino-b-(p-chlorophenyl)butyric acid

gamma-Amino-beta-(p-chlorophenyl)butyrate

gamma-Amino-beta-(p-chlorophenyl)butyric acid

Gen baclofen

Gen-baclofen

GenBaclofen

Genpharm

Irex brand OF baclofen

Isis brand OF baclofen

Kemstro

Lebic

Lioresal

LIORESAL INTRATH

LYFLEX

Medtronic brand OF baclofen

Novartis brand OF baclofen

Nu baclo

Nu pharm brand OF baclofen

Nu-baclo

NuBaclo

Nu-pharm brand OF baclofen

PCP-GABA

Pharmascience brand OF baclofen

PMS Baclofen

PMSBaclofen

PMS-Baclofen

Β-(4-chlorophenyl)gaba

Β-(aminomethyl)-4-chlorobenzenepropanoate

Β-(aminomethyl)-4-chlorobenzenepropanoic acid

Β-(aminomethyl)-p-chlorohydrocinnamate

Β-(aminomethyl)-p-chlorohydrocinnamic acid

Β-(p-chlorophenyl)-γ-aminobutyrate

Β-(p-chlorophenyl)-γ-aminobutyric acid

Γ-amino-β-(p-chlorophenyl)butyrate

Γ-amino-β-(p-chlorophenyl)butyric acid

2

Sorbitol

Approved, Investigational

Phase 3

69-65-8, 50-70-4

453 6251 5780

3

Naltrexone

Approved, Investigational, Vet_approved

Phase 3

16590-41-3

5360515

4

Ethanol

Approved

Phase 3

64-17-5

702

Synonyms:

[CH2Me(OH)]

[OEtH]

1-Hydroxyethane

ABLYSINOL

Absolute alcohol

Absolute ethanol

Absolute ethyl alcohol

Aethanol

Aethylalkohol

Alcare hand degermer

Alcohol

Alcohol (ethyl)

Alcohol anhydrous

Alcohol denatured

ALCOHOL DETERMINATION--ALCOHOL

Alcohol etilico

Alcohol etílico

Alcohol, absolute

Alcohol, Dehydrated

Alcohol, denatured

ALCOHOL, DILUTED

Alcohol, ethyl

Alcohol, grain

ALCOHOL, RUBBING

Alcohols

Alcool ethylique

Alcool éthylique

Alcool etilico

Algrain

Alkohol

Alkoholu etylowego

Aminoethanol

Anhydrol

Anhydrous alcohol

Anhydrous ethanol

Äthanol

Äthylalkohol

B3324

Beta-Aminoethanol

Beta-Aminoethyl Alcohol

Beta-Ethanolamine

Beta-Hydroxyethylamine

C2H5OH

Caswell No. 426

Colamine

Cologne spirit

Cologne spirits

Dehydrated alcohol

Dehydrated ethanol

Denatured alcohol

Denatured Alcohol Cd-10

Denatured Alcohol Cd-5

Denatured Alcohol Cd-5a

Denatured Alcohol Sd-1

Denatured Alcohol Sd-13a

Denatured Alcohol Sd-17

Denatured Alcohol Sd-23a

Denatured Alcohol Sd-28

Denatured Alcohol Sd-30

Denatured Alcohol Sd-39b

Denatured Alcohol Sd-39c

Denatured Alcohol Sd-3a

Denatured Alcohol Sd-40m

Denatured ethanol

Desinfektol el

Diluted alcohol

Distilled spirits

DRINKING ALCOHOL

E1510

Envision Conditioner Pdd 9020

ETA

Etanol

Etanolo

ETHANOL

éthanol

Ethanol 200 proof

Ethanol Absolute

Ethanol Absolute Bp

Ethanol Anhydrous

Ethanol Extra Pure

Ethanol solution

Ethanol, Silent Spirit

Ethicap

Ethyl alc

Ethyl alcohol

Ethyl Alcohol & Water, 10%

Ethyl Alcohol & Water, 20%

Ethyl Alcohol & Water, 30%

Ethyl Alcohol & Water, 40%

Ethyl Alcohol & Water, 5%

Ethyl Alcohol & Water, 50%

Ethyl Alcohol & Water, 60%

Ethyl Alcohol & Water, 70%

Ethyl Alcohol & Water, 80%

Ethyl Alcohol & Water, 95%

Ethyl Alcohol & Water, 96%

Ethyl alcohol anhydrous

Ethyl alcohol in alcoholic beverages

Ethyl alcohol usp

Ethyl Alcohol, Anhydrous

Ethyl Alcohol, Denatured

Ethyl hydrate

Ethyl hydroxide

Ethylol

Ethylolamine

EtOH

FEMA NO. 2419

Fermentation alcohol

Glycinol

Grain alcohol

Hinetoless

HSDB 531

Hydroxyethane

Infinity pure

Jaysol

Jaysol S

Lux

METHYLATED MINERAL

Methylated Spirit Mineralised

Methylcarbinol

Molasses alcohol

NCI-C03134

NSC-85228

PM-6193-200

Potato alcohol

Punctilious ethyl alcohol

Pyro

Reagent Alcohol

Silent spirit

SPIRIGEL

Spirit

Spirits OF wine

Spiritus vini

Spirt

SURG

Synasol

Tecsol

Tecsol C

Thanol

Thiofaco M-50

Undenatured ethanol

USAF EK-1597

VODKA

5

Ascorbic acid

Approved, Nutraceutical

Phase 2, Phase 3

50-81-7

54676860 54670067 5785

Synonyms:

(+)-Ascorbate

(+)-Ascorbic acid

(+)-Sodium L-ascorbate

[<sup>14</sup>C]-ascorbic acid

3-keto-L-Gulofuranolactone

3-oxo-L-Gulofuranolactone

AA

Acid, ascorbic

Acid, L-ascorbic

Acide ascorbique

Acido ascorbico

ácido ascórbico

Acidum ascorbicum

Acidum ascorbinicum

Adenex

Allercorb

Antiscorbic vitamin

Antiscorbutic vitamin

arco-Cee

Ascoltin

ASCOR

Ascorb

Ascor-b.i.d.

Ascorbajen

Ascorbate

Ascorbate radical

Ascorbate, ferrous

Ascorbate, magnesium

Ascorbate, sodium

ASCORBIC ACID

Ascorbic acid radical

Ascorbic acid, monosodium salt

Ascorbicab

Ascorbicap

Ascorbicin

Ascorbin

Ascorbinsaeure

Ascorbinsäure

Ascorbutina

Ascorin

Ascorteal

Ascorvit

Cantan

Cantaxin

Catavin C

Ce lent

Cebicure

Cebid

Cebion

Cebione

Cecon

Cee-caps TD

Cee-vite

Cegiolan

Ceglion

Ceklin

Celaskon

Celin

Cell C

Cemagyl

Ce-mi-lin

Cemill

Cenetone

Cenolate

Cereon

Cergona

Cescorbat

Cetamid

Cetane

Cetane-caps TC

Cetane-caps TD

Cetebe

Cetemican

Cevalin

Cevatine

Cevex

Cevi-bid

Cevimin

Ce-vi-sol

Cevital

Cevitamate

Cevitamic acid

Cevitamin

Cevitan

Cevitex

Cewin

Chewcee

Ciamin

Cipca

Citriscorb

Citrovit

C-Level

C-Long

Colascor

Concemin

C-Quin

C-Span

C-Vimin

Davitamon C

Di-L-ascorbate, magnesium

Dora-C-500

Duoscorb

e 300

e300

e-300

Ferrous ascorbate

gamma-Lactone L-threo-hex-2-enonate

gamma-Lactone L-threo-hex-2-enonic acid

HiCee

Hybrin

ido-C

Juvamine

Kangbingfeng

Kyselina askorbova

L Ascorbic acid

L(+)-Ascorbate

L-(+)-Ascorbate

L(+)-Ascorbic acid

L-(+)-Ascorbic acid

L-3-Ketothreohexuronic acid lactone

Laroscorbine

L-Ascorbate

L-Ascorbic acid

Lemascorb

Liqui-cee

L-Lyxoascorbate

L-Lyxoascorbic acid

L-threo-Ascorbic acid

L-Xyloascorbate

L-Xyloascorbic acid

Magnesium ascorbate

Magnesium ascorbicum

Magnesium di L ascorbate

Magnesium di-L-ascorbate

Magnorbin

Meri-c

Monodehydroascorbate radical

Monodehydroascorbic acid radical

Natrascorb

Natrascorb injectable

Planavit C

Proscorbin

Redoxon

Ribena

Ronotec 100

Rontex 100

Roscorbic

Rovimix C

Scorbacid

Scorbu C

Scorbu-C

Secorbate

Semidehydroascorbate

Semidehydroascorbic acid

Sodascorbate

Sodium ascorbate

Suncoat VC 40

Testascorbic

VASC

Vicelat

Vicin

Vicomin C

Viforcit

Viscorin

Viscorin 100m

Vitace

Vitacee

Vitacimin

Vitacin

Vitamin C

Vitamina C

Vitamisin

Vitascorbol

Xitix

6

Vitamins

Phase 2, Phase 3

7

Trace Elements

Phase 2, Phase 3

8

Micronutrients

Phase 2, Phase 3

9

Antioxidants

Phase 2, Phase 3

10

Protective Agents

Phase 2, Phase 3

11

Pharmaceutical Solutions

Phase 3

12

Cathartics

Phase 3

13

Neurotransmitter Agents

Phase 3

14

Laxatives

Phase 3

15

GABA Agonists

Phase 3

16

Gastrointestinal Agents

Phase 3

17

Narcotic Antagonists

Phase 3

18

Narcotics

Phase 3

19

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 2

59-30-3

6037

20

Biotin

Approved, Investigational, Nutraceutical

Phase 2

58-85-5

253 171548

Synonyms:

(+)-Biotin

-(+)-Biotin

(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valerate

(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid

(+)-CIS-HEXAHYDRO-2-OXO-1H-THIENO[3,4-D]IMIDAZOLE-4-PENTANOIC ACID

(3AS,4S,6ar)-hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valerate

(3AS,4S,6ar)-hexahydro-2-oxo-1H-thieno[3,4-D]imidazole-4-valeric acid

1SWK

1SWN

1SWR

5-(2-Oxohexahydro-1H-thieno[3,4-D]imidazol-4-yl)pentanoate

5-(2-Oxohexahydro-1H-thieno[3,4-D]imidazol-4-yl)pentanoic acid

5-[(1R,5S,6S)-3-OXO-7-THIA-2,4-DIAZABICYCLO[3.3.0]OCT-6-YL]PENTANOIC ACID

5-[(3AS,4S,6AR)-2-OXO-HEXAHYDRO-1H-THIENO[3,4-D]IMIDAZOLIDIN-4-YL]PENTANOIC ACID

Biocur brand OF biotin

Biodermatin

Bioepiderm

Biokur

Bios H

Bios II

Biotin

BIOTIN 100

Biotin biocur brand

Biotin dermapharm brand

Biotin gelfert

Biotin hermes

Biotin hermes brand

Biotin medopharm brand

Biotin ratiopharm

Biotin ratiopharm brand

Biotin roche brand

Biotin simons brand

Biotin strathmann brand

Biotin ziethen brand

Biotina

Biotine

Biotine roche

Biotinratiopharm

Biotin-ratiopharm

Biotinum

cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valerate

cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valeric acid

cis-Hexahydro-2-oxo-1H-thieno(3,4)imidazole-4-valerate

cis-Hexahydro-2-oxo-1H-thieno(3,4)imidazole-4-valeric acid

cis-Tetrahydro-2-oxothieno(3,4-D)imidazoline-4-valerate

cis-Tetrahydro-2-oxothieno(3,4-D)imidazoline-4-valeric acid

Coenzyme R

D(+)-Biotin

D-(+)-Biotin

D-Biotin

D-Biotin factor S

Deacura

delta-(+)-Biotin

delta-Biotin

delta-Biotin factor S

Dermapharm brand OF biotin

E+b pharma brand OF biotin

Factor S

Factor S (vitamin)

Gabunat

Gelfert, biotin

H, Vitamin

Hermes brand OF biotin

Hermes, biotin

Hexahydro-2-oxo-[3as-(3aa,4b,6aa)]-1H-thieno[3,4-D]imidazole-4-pentanoate

Hexahydro-2-oxo-[3as-(3aa,4b,6aa)]-1H-thieno[3,4-D]imidazole-4-pentanoic acid

Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1H-thieno[3,4-D]imidazole-4-pentanoate

Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1H-thieno[3,4-D]imidazole-4-pentanoic acid

Hexahydro-2-oxo-1H-thieno(3,4-D)imidazole-4-pentanoate

Hexahydro-2-oxo-1H-thieno(3,4-D)imidazole-4-pentanoic acid

HEXAHYDRO-2-OXO-1H-THIENO[3,4-D]IMIDAZOLE-4-PENTANOIC ACID

Lutavit H2

MD-1003

Medea brand OF biotin sodium salt

Medebiotin

Medobiotin

Medopharm brand OF biotin

Meribin

NSC-63865

Ratiopharm brand OF biotin

Roche brand OF biotin

Roche, biotine

Rombellin

Rovimix H 2

Simons brand OF biotin

Strathmann brand OF biotin

Vitamin b7

Vitamin H

Vitamin-H

Ziethen brand OF biotin

21

Folate

Phase 2

22

Vitamin B9

Phase 2

23

Vitamin B7

Phase 2

24

Vitamin B Complex

Phase 2

25

Ulipristal acetate

Phase 2

126784-99-4

13559282 130904

Interventional clinical trials:

(show all 23)

#	Name	Status	NCT ID	Phase	Drugs
1	A Multicenter Study to Evaluate the Effects on Charcot-Marie-Tooth Neuropathy Type 1A of a Composite Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program.	Unknown status	NCT01289704	Phase 2, Phase 3
2	International, Multi-center, Randomized, Double-blind, Placebo-controlled Phase III Study Assessing in Parallel Groups the Efficacy and Safety of 2 Doses of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Treated 15 Months	Completed	NCT02579759	Phase 3	PXT3003 dose 1;PXT3003 dose 2;placebo
3	A Randomized, Placebo-controlled, Double Masked 120 Subject "Futility Design" Clinical Trial of Ascorbic Acid Treatment of Charcot Marie Tooth Disease Type 1A.	Completed	NCT00484510	Phase 2, Phase 3	Ascorbic acid (Vitamin C);placebo
4	A Multi-Center, Randomized, Double-Blind, Placebo-Controlled Phase III Study to Assess the Efficacy and Safety of PXT3003 in Charcot-Marie-Tooth Type 1A (CMT1A) Treated 15 Months	Recruiting	NCT05092841	Phase 3	PXT3003;PXT3003 placebo
5	International, Multi-center, Open Label, Follow-up Extension Study Assessing the Long-term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A	Active, not recruiting	NCT03023540	Phase 3	PXT3003
6	A Multi-center, Randomized, Double-blind, Placebo Controlled Phase III Study to Assess the Efficacy, Safety, and Tolerability of PXT3003 in Charcot-Marie-Tooth Type 1A (CMT1A)	Active, not recruiting	NCT04762758	Phase 3	(RS)-baclofen, naltrexone hydrochloride and D-sorbitol;Placebo
7	SERENDEM Study: MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study	Completed	NCT02967679	Phase 2	MD1003
8	A Phase II, Randomized, Placebo-controlled Trial of the Safety, Efficacy, Pharmacodynamics and Pharmacokinetics of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A.	Completed	NCT01401257	Phase 2	PXT3003 Low dose;PXT3003 Intermediate Dose;PXT3003 High Dose
9	Single Center, Open Label, Repeat Intramuscular Administration, 270 Days, Phase I/2a Clinical Trial to Evaluate Safety, Tolerability of Investigational Product (Engensis: VM202) With Charcot-Marie-Tooth Disease Subtype 1A (CMT1A)	Completed	NCT05361031	Phase 1, Phase 2
10	Phase I/IIa Trial Evaluating scAAV1.tMCK.NTF3 for Treatment of Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A)	Suspended	NCT03520751	Phase 1, Phase 2	scAAV1.tMCK.NTF3
11	LONG-TERM EFFECTS TOLERANCE AND THE Ulipristal Acetate IN DISEASE Charcot-MARIE-TOOTH TYPE OF 1A	Terminated	NCT02600286	Phase 2	EllaOne;EllaOne placebo
12	Open-label, Dose-escalation, Phase 1 Clinical Trial to Determine the Safety and Dose of EN001 in Patients With Charcot-Marie-Tooth Disease (CMT) Type 1A	Recruiting	NCT05333406	Phase 1	EN001
13	Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study	Unknown status	NCT03550300
14	Quantification of Nerve Stiffness in Patients With Peripheral Neuropathies	Unknown status	NCT03397303
15	The Feasibility and Effect of Ankle Foot Orthoses and Underfoot Vibration on the Postural Stability of People With Inherited Neuropathy	Unknown status	NCT03278093
16	Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A	Completed	NCT01750710
17	BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease	Completed	NCT02982343
18	Biomarkers and Validation of Selected Outcome Measures (CMTNSmod)	Completed	NCT03386266
19	A Randomized Double Blind Longitudinal Study to Determine Motor Unit Number Index Variability in CMT1A Patients Undergoing a Home Ankle Strengthening Program Versus Standard of Care	Completed	NCT03715283
20	Driving Ability in Patients With CMT 1A	Completed	NCT02357355
21	Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers	Recruiting	NCT02596191
22	Fall Risk Assessment in a Population of Charcot-Marie-Tooth Disease Type 1A (CMT 1A) by Timed Up and Go Test	Recruiting	NCT05142059
23	Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT	Recruiting	NCT01193088

Search NIH Clinical Center for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Sources

Genetic Tests for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Genetic tests related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:

#	Genetic test	Affiliating Genes
1	Charcot-Marie-Tooth Disease, Type Ia ²⁸	PMP22

Sources

Anatomical Context for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Organs/tissues related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:

MalaCards : Skeletal Muscle, Tonsil, Spinal Cord, Skin, Brain

ODiseA: Peripheral Nerve

Sources

Publications for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Articles related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:

(show top 50) (show all 1030)

#	Title	Authors	PMID	Year
1	Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. ⁶² ⁵⁷ ⁵	Liu P...Lupski JR	24530202	2014
2	A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. ⁶² ⁵⁷ ⁵	Kleopa KA...Christodoulou K	15205993	2004
3	Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. ⁶² ⁵⁷ ⁵	Valentijn LJ...Bolhuis PA	1303281	1992
4	Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. ⁶² ⁵⁷ ⁵	Lupski JR...Patel PI	1301995	1992
5	DNA duplication associated with Charcot-Marie-Tooth disease type 1A. ⁶² ⁵⁷ ⁵	Lupski JR...Patel PI	1677316	1991
6	De-novo mutation in hereditary motor and sensory neuropathy type I. ⁵⁷ ⁵	Hoogendijk JE...Baas F	1349106	1992
7	Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I). ⁵⁷ ⁵	Gabreels-Festen AA...Janssen-van Kempen TW	1564512	1992
8	Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22. ⁵³ ⁶² ⁵⁷	Fabrizi GM...Rizzuto N	10489052	1999
9	Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy. ⁵³ ⁶² ⁵⁷	Pellegrino JE...Zackai EH	8834051	1996
10	Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy. ⁶² ⁵	Brozkova D...Seeman P	22006697	2011
11	Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene. ⁶² ⁵	Taioli F...Fabrizi GM	21252112	2011
12	Charcot-Marie-Tooth disease subtypes and genetic testing strategies. ⁶² ⁵⁷	Saporta AS...Shy ME	21280073	2011
13	Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease. ⁶² ⁵⁷	Weterman MA...Baas F	19888301	2010
14	PMP22 expression in dermal nerve myelin from patients with CMT1A. ⁶² ⁵⁷	Katona I...Li J	19447823	2009
15	Motor axon loss is associated with hand dysfunction in Charcot-Marie-Tooth disease 1a. ⁶² ⁵⁷	Videler AJ...van Schaik IN	18852440	2008
16	Neuropathy progression in Charcot-Marie-Tooth disease type 1A. ⁶² ⁵⁷	Shy ME...McDermott MP	18227419	2008
17	Women and men are equally disabled by Charcot-Marie-Tooth disease type 1A. ⁶² ⁵⁷	Swan ER...Shy ME	17353481	2007
18	Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy. ⁶² ⁵⁷	Meyer zu Horste G...Sereda MW	17262851	2007
19	NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients. ⁶² ⁵⁷	Sahenk Z...Mendell JR	16157899	2005
20	Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. ⁶² ⁵⁷	Passage E...Fontes M	15034573	2004
21	Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). ⁶² ⁵⁷	Sereda MW...Nave KA	14608378	2003
22	Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. ⁶² ⁵⁷	Boerkoel CF...Lupski JR	11835375	2002
23	Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A. ⁶² ⁵⁷	Perea J...Huxley C	11331611	2001
24	Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study. ⁶² ⁵⁷	Dematteis M...Levy P	11214130	2001
25	Compression of spinal cord and cauda equina in Charcot-Marie-Tooth disease type 1A. ⁶² ⁵⁷	Butefisch C...Gutmann L	10078755	1999
26	Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome. ⁶² ⁵⁷	King PH...Shaffer LG	9842994	1998
27	Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A. ⁶² ⁵⁷	Bort S...Palau F	8981968	1997
28	Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion. ⁶² ⁵⁷	Liehr T...Rott HD	8682501	1996
29	Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA. ⁶² ⁵⁷	Huxley C...Fontes M	8733121	1996
30	Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin. ⁶² ⁵⁷	Blair IP...Nicholson GA	8644705	1996
31	Widespread expression of the peripheral myelin protein-22 gene (PMP22) in neural and non-neural tissues during murine development. ⁶² ⁵⁷	Baechner D...Rautenstrauss B	8847735	1995
32	Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication. ⁶² ⁵⁷	Garcia CA...Lupski JR	7501164	1995
33	Inheritance of CMT1A duplication from a mosaic father. ⁶² ⁵⁷	Sorour E...Upadhyaya M	7666403	1995
34	Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations. ⁶² ⁵⁷	Gabreels-Festen AA...Gabreels FJ	8615087	1995
35	Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients. ⁶² ⁵⁷	Schiavon F...Danieli GA	7853375	1994
36	Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication. ⁶² ⁵⁷	Hertz JM...Bisgaard C	7834893	1994
37	Detection of tandem duplications and implications for linkage analysis. ⁶² ⁵⁷	Matise TC...Weeks DE	8198134	1994
38	Genetic basis of inherited peripheral neuropathies. ⁶² ⁵⁷	Suter U...Patel PI	7515304	1994
39	Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. ⁶² ⁵	Wise CA...Lupski JR	8105684	1993
40	Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. ⁶² ⁵	Roa BB...Lupski JR	8510709	1993
41	Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12. ⁶² ⁵	Upadhyaya M...Harper PS	8500795	1993
42	Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a). ⁶² ⁵	Hoogendijk JE...Ongerboer de Visser BW	8492918	1993
43	Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1. ⁶² ⁵⁷	Lupski JR...Patel PI	8418668	1993
44	Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers. ⁶² ⁵⁷	Lebo RV...Chance PF	1729894	1992
45	Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families. ⁶² ⁵	MacMillan JC...Harper PS	1552536	1992
46	Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. ⁶² ⁵	Raeymaekers P...Van Broeckhoven C	1552545	1992
47	The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2. ⁶² ⁵	Hoogendijk JE...Bolhuis PA	1721895	1991
48	Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2. ⁶² ⁵⁷	Vance JM...Pericak-Vance MA	1674726	1991
49	Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. ⁶² ⁵	Raeymaekers P...Bolhuis PA	1822787	1991
50	Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids. ⁶² ⁵⁷	Patel PI...Lupski JR	1978559	1990

Sources

Genes for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Genes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a (1 elite genes):

(show all 26)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PMP22	Peripheral Myelin Protein 22	Protein Coding	1696.13	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	475348 1301995 1303281 (more) 1349106 1552536 1552545 1564512 1677316 1721895 1822787 8105684 8492918 8500795 8510709 9040737 9371959 9543325 15205993 15786462 17796454 19067730 19259128 21149811 21252112 23965407 24530202 25741868 26467025 28492532 22006697 20301384 7753126 10489052 8931571 9678509 15083703 9324088 8834051 15797717 9626246 16041800 10561690 10713355 10775544
2	MPZ	Myelin Protein Zero	Protein Coding	16.89	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16041800
3	GJB1	Gap Junction Protein Beta 1	Protein Coding	8.69	DISEASES inferred ¹⁴
4	SH3TC2	SH3 Domain And Tetratricopeptide Repeats 2	Protein Coding	7.68	DISEASES inferred ¹⁴
5	GDAP1	Ganglioside Induced Differentiation Associated Protein 1	Protein Coding	7.61	DISEASES inferred ¹⁴
6	LITAF	Lipopolysaccharide Induced TNF Factor	Protein Coding	7.59	DISEASES inferred ¹⁴
7	EGR2	Early Growth Response 2	Protein Coding	7.5	DISEASES inferred ¹⁴
8	MFN2	Mitofusin 2	Protein Coding	7.41	DISEASES inferred ¹⁴
9	MTMR2	Myotubularin Related Protein 2	Protein Coding	7.17	DISEASES inferred ¹⁴
10	NEFL	Neurofilament Light Chain	Protein Coding	6.75	DISEASES inferred ¹⁴
11	NTF3	Neurotrophin 3	Protein Coding	6.7	DISEASES inferred ¹⁴
12	PRX	Periaxin	Protein Coding	6.64	DISEASES inferred ¹⁴
13	NRG1	Neuregulin 1	Protein Coding	6.55	DISEASES inferred ¹⁴
14	GARS1	Glycyl-TRNA Synthetase 1	Protein Coding	6.5	DISEASES inferred ¹⁴
15	TEKT3	Tektin 3	Protein Coding	6.5	DISEASES inferred ¹⁴
16	SBF2	SET Binding Factor 2	Protein Coding	6.4	DISEASES inferred ¹⁴
17	FGD4	FYVE, RhoGEF And PH Domain Containing 4	Protein Coding	6.35	DISEASES inferred ¹⁴
18	ARHGEF10	Rho Guanine Nucleotide Exchange Factor 10	Protein Coding	6.27	DISEASES inferred ¹⁴
19	FIG4	FIG4 Phosphoinositide 5-Phosphatase	Protein Coding	6.27	DISEASES inferred ¹⁴
20	PMP2	Peripheral Myelin Protein 2	Protein Coding	6.26	DISEASES inferred ¹⁴
21	TVP23B	Trans-Golgi Network Vesicle Protein 23 Homolog B	Protein Coding	6.23	DISEASES inferred ¹⁴
22	SPTLC1	Serine Palmitoyltransferase Long Chain Base Subunit 1	Protein Coding	6.17	DISEASES inferred ¹⁴
23	TMPRSS5	Transmembrane Serine Protease 5	Protein Coding	6.16	DISEASES inferred ¹⁴
24	MAG	Myelin Associated Glycoprotein	Protein Coding	6.13	DISEASES inferred ¹⁴
25	SOX10	SRY-Box Transcription Factor 10	Protein Coding	6.12	DISEASES inferred ¹⁴
26	MBP	Myelin Basic Protein	Protein Coding	6.07	DISEASES inferred ¹⁴

Sources

Variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:

⁵ (show all 25)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	PMP22	PMP22, 1.4-MB DUP	DUP	Pathogenic	8427		GRCh37: GRCh38:
2	PMP22	NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)	SNV	Pathogenic	8429	rs104894618	GRCh37: 17:15142871-15142871 GRCh38: 17:15239554-15239554
3	PMP22	NM_000304.4(PMP22):c.281del (p.Gly94fs)	DEL	Pathogenic	30158	rs80338763	GRCh37: 17:15142826-15142826 GRCh38: 17:15239509-15239509
4	overlap with 8 genes	GRCh37/hg19 17p12(chr17:14063251-15449627)	CN GAIN	Pathogenic	625724		GRCh37: 17:14063251-15449627 GRCh38:
5	overlap with 8 genes	GRCh37/hg19 17p12(chr17:14104012-15422557)	CN GAIN	Pathogenic	625726		GRCh37: 17:14104012-15422557 GRCh38:
6	overlap with 11 genes	GRCh37/hg19 17p12(chr17:14105874-15611546)	CN GAIN	Pathogenic	625728		GRCh37: 17:14105874-15611546 GRCh38:
7	PMP22	NC_000017.11:g.15133096_15164093dup	DUP	Pathogenic	977285		GRCh37: 17:15036412-15036413 GRCh38: 17:15133095-15133096
8	PMP22	NM_000304.4(PMP22):c.35A>G (p.His12Arg)	SNV	Pathogenic	835185	rs1909248652	GRCh37: 17:15164010-15164010 GRCh38: 17:15260693-15260693
9	overlap with 9 genes	GRCh37/hg19 17p12(chr17:14096089-15492591)x3	CN GAIN	Pathogenic	1330204		GRCh37: 17:14096089-15492591 GRCh38:
10	PMP22	NM_000304.4(PMP22):c.215C>T (p.Ser72Leu)	SNV	Pathogenic	8433	rs104894621	GRCh37: 17:15142892-15142892 GRCh38: 17:15239575-15239575
11	overlap with 9 genes		DUP	Pathogenic	598751		GRCh37: 17:14087933-15500645 GRCh38:
12	PMP22	NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)	SNV	Pathogenic	8428	rs104894617	GRCh37: 17:15163998-15163998 GRCh38: 17:15260681-15260681
13	PMP22	NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)	SNV	Pathogenic	8445	rs104894625	GRCh37: 17:15163980-15163980 GRCh38: 17:15260663-15260663
14	PMP22	NM_000304.4(PMP22):c.434del (p.Leu145fs)	DEL	Pathogenic	217238	rs863225029	GRCh37: 17:15134283-15134283 GRCh38: 17:15230966-15230966
15	PMP22	PMP22, 1.4-MB TRIPLICATION	VAR	Pathogenic	127097		GRCh37: GRCh38:
16	PMP22	NM_000304.4(PMP22):c.281dup (p.Arg95fs)	DUP	Pathogenic	8437	rs80338763	GRCh37: 17:15142825-15142826 GRCh38: 17:15239508-15239509
17	PMP22	NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)	SNV	Likely Pathogenic	8443	rs104894623	GRCh37: 17:15142908-15142908 GRCh38: 17:15239591-15239591
18	PMP22	NM_000304.4(PMP22):c.341C>T (p.Ala114Val)	SNV	Likely Pathogenic	1184514		GRCh37: 17:15134376-15134376 GRCh38: 17:15231059-15231059
19	PMP22	NM_000304.4(PMP22):c.235T>A (p.Ser79Thr)	SNV	Likely Pathogenic	217236	rs863225027	GRCh37: 17:15142872-15142872 GRCh38: 17:15239555-15239555
20	PMP22	NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)	SNV	Uncertain Significance	462781	rs1022583382	GRCh37: 17:15134239-15134239 GRCh38: 17:15230922-15230922
21	PMP22	NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)	SNV	Uncertain Significance	188195	rs756046682	GRCh37: 17:15142922-15142922 GRCh38: 17:15239605-15239605
22	PMP22	NM_000304.4(PMP22):c.102C>A (p.His34Gln)	SNV	Uncertain Significance	1339254		GRCh37: 17:15162487-15162487 GRCh38: 17:15259170-15259170
23	PMP22	NM_000304.4(PMP22):c.353C>T (p.Thr118Met)	SNV	Uncertain Significance	8431	rs104894619	GRCh37: 17:15134364-15134364 GRCh38: 17:15231047-15231047
24	TEKT3	GRCh37/hg19 17p12(chr17:15229779-15265326)x3	CN GAIN	Not Provided	1177482		GRCh37: 17:15229779-15265326 GRCh38:
25	PMP22	NM_000304.4(PMP22):c.362A>G (p.His121Arg)	SNV	Not Provided	586345	rs1567698985	GRCh37: 17:15134355-15134355 GRCh38: 17:15231038-15231038

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:

⁷³ (show all 11)

#	Symbol	AA change	Variation ID	SNP ID
1	PMP22	p.Leu16Pro	VAR_006360	rs104894617
2	PMP22	p.Ser72Leu	VAR_006363	rs104894621
3	PMP22	p.Ser79Cys	VAR_006367	rs104894618
4	PMP22	p.Leu105Arg	VAR_006373
5	PMP22	p.Gly107Val	VAR_006374
6	PMP22	p.Thr118Met	VAR_006375	rs104894619
7	PMP22	p.Leu147Arg	VAR_006377
8	PMP22	p.Asp37Val	VAR_009660	rs104894627
9	PMP22	p.Gly93Arg	VAR_009662	rs778693173
10	PMP22	p.Ser22Phe	VAR_029960	rs104894625
11	PMP22	p.Val65Phe	VAR_029964

Sources

Expression for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a.

Sources

Pathways for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Pathways related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Neural crest differentiation ⁷⁴	11.34	PMP22 MPZ GJB1
2	Intracellular trafficking proteins involved in CMT neuropathy ⁷⁴	10.83	SH3TC2 SBF2 PMP22 NEFL MTMR2 MPZ
3	EGR2 and SOX10-mediated initiation of Schwann cell myelination ⁶⁶	10.7	PRX PMP22 MPZ EGR2

Sources

GO Terms for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Cellular components related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	axon	GO:0030424	9.36	SBF2 NTF3 NRG1 NEFL MTMR2 GARS1

Biological processes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of myelination	GO:0031642	9.71	MTMR2 FIG4
2	peripheral nervous system myelin maintenance	GO:0032287	9.67	SH3TC2 PRX
3	myelin assembly	GO:0032288	9.63	PMP22 MTMR2 FIG4
4	myelination in peripheral nervous system	GO:0022011	9.56	SH3TC2 NRG1 ARHGEF10
5	Schwann cell differentiation	GO:0014037	9.5	NRG1 EGR2
6	peripheral nervous system development	GO:0007422	9.5	PMP22 NTF3 NRG1 EGR2
7	myelination	GO:0042552	9.28	SBF2 PMP22 MTMR2 MPZ FIG4 EGR2

Sources

Sources for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

CMT1A MCID: CHR627 MIFTS: 58	Charcot-Marie-Tooth Disease, Demyelinating, Type 1a (CMT1A) Categories: Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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Charcot-Marie-Tooth Disease, Demyelinating, Type 1a (CMT1A)

Aliases & Classifications for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Related Diseases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Diseases in the Charcot-Marie-Tooth Disease, Demyelinating, Type 1b family:

Diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Human phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Drugs for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Genetic tests related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:

Anatomical Context for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

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Publications for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Articles related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:

Genes for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Genes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a (1 elite genes):

Variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:

Expression for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Pathways for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Pathways related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a according to GeneCards Suite gene sharing:

GO Terms for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Cellular components related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a according to GeneCards Suite gene sharing:

Biological processes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a according to GeneCards Suite gene sharing:

Sources for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a