CMT1E
MCID: CHR537
MIFTS: 50

Charcot-Marie-Tooth Disease, Type 1e (CMT1E) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases, Fetal diseases, Muscle diseases, Metabolic diseases

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

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Charcot-Marie-Tooth Disease, Type 1e:

Name: Charcot-Marie-Tooth Disease, Type 1e 52 12
Charcot-Marie-Tooth Disease Type 1e 11 48 54 13
Charcot-Marie-Tooth Disease and Deafness 52 11 48
Charcot-Marie-Tooth Disease Type 1 11 48 13
Cmt1e 11 54 70
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 48 68
Charcot-Marie-Tooth Disease Demyelinating Type 1e 11 70
Hereditary Motor and Sensory Neuropathy Type 1 11 48
Charcot-Marie-Tooth Disease-Deafness Syndrome 54 27
Charcot-Marie-Tooth Disease 1e 70 27
Charcot-Marie-Tooth Neuropathy and Deafness, Autosomal Dominant 48
Autosomal Dominant Charcot-Marie-Tooth Neuropathy and Deafness 11
 
Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease 48
Charcot-Marie-Tooth Disease and Deafness Autosomal Dominant 70
Hereditary Motor and Sensory Neuropathy Type I 68
Hereditary Motor and Sensory Neuropathy 1 48
Charcot-Marie-Tooth Neuropathy Type 1e 70
Charcot-Marie-Tooth Neuropathy Type 1 48
Charcot-Marie-Tooth Disease-Deafness 11
Charcot Marie Tooth Disease Type 1e 48
Charcot-Marie-Tooth Type 1 48
Cmt 1e 48
Hmsn1 48
Cmt1 48

Characteristics:

Orphanet epidemiological data:

54
charcot-marie-tooth disease type 1e:
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy; Age of death: normal life expectancy

HPO:

64
charcot-marie-tooth disease, type 1e:
Inheritance: autosomal dominant inheritance
Onset and clinical course: juvenile onset, childhood onset

Classifications:



External Ids:

OMIM52 118300
Disease Ontology11 DOID:0050538, DOID:0110153
ICD1030 G60.0
Orphanet54 ORPHA90658
MESH via Orphanet40 C537986, C538078
ICD10 via Orphanet31 G60.0
UMLS via Orphanet69 C1861669, C2931686
MeSH39 D002607

Summaries for Charcot-Marie-Tooth Disease, Type 1e

About this section
NIH Rare Diseases:48 Charcot-marie-tooth disease type 1 (cmt1) is a type of peripheral neuropathy, a condition affecting the transmission of information between the central nervous system (brain and spinal cord) and the rest of the body. symptoms often begin between age 5 and 25, and the condition is usually slowly progressive. signs and symptoms include distal muscle weakness and wasting (atrophy); sensory loss; and slow nerve conduction velocity. it is often associated with pes cavus foot deformity (high arch) and bilateral foot drop. fewer than 5% of people with cmt1 become wheelchair dependent. cmt1 is inherited in an autosomal dominant manner. it is most often caused by a mutation called a duplication involving the pmp22 gene (designated cmt1a). it can also be caused by other types of mutations in the mpz, litaf, egr2, pmp22 or nefl genes. treatment may involve physical or occupational therapy; the use of special shoes, braces or other orthopedic devices; surgery for severe pes cavus; canes or wheelchairs for mobility; and pain medication as needed. last updated: 11/1/2016

MalaCards based summary: Charcot-Marie-Tooth Disease, Type 1e, also known as charcot-marie-tooth disease type 1e, is related to pmp2-related charcot-marie-tooth disease type 1 and charcot-marie-tooth neuropathy, x-linked dominant, 1, and has symptoms including sensorineural hearing impairment, split hand and hyporeflexia. An important gene associated with Charcot-Marie-Tooth Disease, Type 1e is PMP22 (Peripheral Myelin Protein 22), and among its related pathways are Neural Crest Differentiation and NgR-p75(NTR)-Mediated Signaling. Affiliated tissues include spinal cord and brain, and related mouse phenotypes are behavior/neurological and homeostasis/metabolism.

UniProtKB/Swiss-Prot:70 Charcot-Marie-Tooth disease 1E: An autosomal dominant form of Charcot-Marie-Tooth disease characterized by the association of sensorineural hearing loss with peripheral demyelinating neuropathy.

Disease Ontology:11 A Charcot-Marie-Tooth disease type 1 that has material basis in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22)

Description from OMIM:52 118300

Related Diseases for Charcot-Marie-Tooth Disease, Type 1e

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Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease, Type 2a2
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Type 2b1 Charcot-Marie-Tooth Disease, Type 1b
Charcot-Marie-Tooth Disease, Type 2j Charcot-Marie-Tooth Disease, Type 2i
Charcot-Marie-Tooth Disease, Type 2b Charcot-Marie-Tooth Disease, Type 2r
Charcot-Marie-Tooth Disease, Type 4c Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Type 2d Charcot-Marie-Tooth Disease, Type 2e
Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Disease, Type 4a
Charcot-Marie-Tooth Disease, Recessive Intermediate, a Charcot-Marie-Tooth Disease, Type 4d
Charcot-Marie-Tooth Disease, Type 1d Charcot-Marie-Tooth Disease, Dominant Intermediate a
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 1c
Charcot-Marie-Tooth Disease, Recessive Intermediate, B Charcot-Marie-Tooth Disease, Type 1a
charcot-marie-tooth disease, type 1e Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Type 4f Charcot-Marie-Tooth Disease, Type 2b2
Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 4k Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease Type 2a Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Disease Type 2g
Charcot-Marie-Tooth Disease Type 2k Charcot-Marie-Tooth Disease Type 2l
Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease Type 2o
Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Recessive Charcot Marie Tooth Disease Type 2x Autosomal Dominant Charcot-Marie-Tooth Disease Type 2z
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Charcot-Marie-Tooth Disease Type 2t
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 Charcot-Marie-Tooth Disease 2a2b
Charcot-Marie-Tooth Disease 2z

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

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1pmp2-related charcot-marie-tooth disease type 112.2
2charcot-marie-tooth neuropathy, x-linked dominant, 111.4
3charcot-marie-tooth disease, type 1d11.4
4charcot-marie-tooth disease, type 1c11.4
5charcot-marie-tooth disease, type 1a11.4
6neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers11.3
7charcot-marie-tooth neuropathy type 111.2
8charcot-marie-tooth disease, type 1b11.2
9charcot-marie-tooth disease, type 1f11.2
10roussy-levy syndrome11.2
11neuropathy10.5
12craniorachischisis10.3MPZ, PMP22
13hypertonia10.3MPZ, PMP22
14hereditary neuropathy with liability to pressure palsy10.3
15hereditary neuropathies10.3
16bladder lateral wall cancer10.2EGR2, PMP22
17charcot-marie-tooth disease10.2
18tooth disease10.2
19charcot-marie-tooth disease, type 2i10.2KIF1B, MPZ
20charcot-marie-tooth disease, dominant intermediate d10.2KIF1B, MPZ
21childhood infratentorial neoplasm10.2LITAF, PMP22
22partington syndrome10.2GJB1, SULT2B1
23von economo's disease10.2MPZ, PMP22
24lowe syndrome10.2GJB1, SULT2B1
25pituitary adenoma, prolactin-secreting10.2MPZ, PMP22
26methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type10.2KIF1B, MPZ
27chondrodysplasia punctata 2, x-linked10.2KIF1B, LITAF
28surfactant metabolism dysfunction, pulmonary, 210.2GJB1, MPZ, PMP22
29non-gestational choriocarcinoma10.2MPZ, PMP22
30hereditary type 2 neuropathy10.1LITAF, MPZ, PMP22
31williams-beuren syndrome10.1GJB1, KIF1B, MPZ
325-oxoprolinase deficiency10.1GDAP1, GJB1
33rickets due to defect in vitamin d 25-hydroxylation10.1MAG, MPZ
34chronic inflammatory demyelinating polyneuropathy10.1
35polyneuropathy10.1
36demyelinating polyneuropathy10.1
37glomangiosarcoma10.1MAG, PMP22
38aortic aneurysm, familial thoracic 410.1KIF1B, LITAF, MPZ
39spermatogenic failure, x-linked, 210.1GDAP1, GJB1, MPZ
40mitochondrial complex v deficiency, nuclear type 210.1GDAP1, KIF1B
41chrna1-related congenital myasthenic syndrome10.0EGR2, GJB1, MPZ, PMP22
42mohr-tranebjaerg syndrome10.0MAG, MPZ, PMP22
43status epilepticus10.0MAG, MPZ, PMP22
44white piedra10.0MAG, MPZ, PMP22
45pneumonic plague10.0GJB1, KIF1B, MPZ, PMP22
46acute sanguinous otitis media10.0GJB1, KIF1B, MPZ, PMP22
47aortic valve prolapse10.0MAG, PMP22
48short stature, idiopathic familial10.0GDAP1, MTMR2
49wegmann jones smith syndrome10.0MAG, MPZ
50yunis-varon syndrome10.0GDAP1, MTMR2

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



Diseases related to charcot-marie-tooth disease, type 1e

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

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Symptoms by clinical synopsis from OMIM:

118300

Clinical features from OMIM:

118300

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

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment64 HP:0000407
2 split hand64 HP:0001171
3 hyporeflexia64 HP:0001265
4 areflexia64 HP:0001284
5 pes cavus64 HP:0001761
6 hammertoe64 HP:0001765
7 talipes calcaneovalgus64 HP:0001884
8 distal muscle weakness64 HP:0002460
9 distal sensory impairment64 HP:0002936
10 steppage gait64 HP:0003376
11 decreased motor nerve conduction velocity64 HP:0003431
12 distal amyotrophy64 HP:0003693
13 foot dorsiflexor weakness64 HP:0009027

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Type 1e according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.7EGR2, GDAP1, GJB1, KIF1B, MAG, MPZ
2MP:00053767.4ACKR1, EGR2, GDAP1, GJB1, KIF1B, LITAF
3MP:00036316.5EGR2, GDAP1, GJB1, KIF1B, LITAF, MAG

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

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

(show all 40)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Vitamin Capproved, nutraceuticalPhase 2, Phase 353150-81-75785, 54670067
Synonyms:
(+)-Sodium L-ascorbate
(+)-ascorbate
(+)-ascorbic acid
(2R)-2-[(1S)-1,2-Dihydroxyethyl]-4,5-dihydroxy-furan-3-one
(2R)-2-[(1S)-1,2-dihydroxyethyl]-4,5-dihydroxyfuran-3-one
(5R)-5-[(1S)-1,2-dihydroxyethyl]-3,4-dihydroxyfuran-2(5H)-one
129940-97-2
134-03-2 (monosodium salt)
14536-17-5
154170-90-8
2-(1,2-Dihydroxyethyl)-4,5-dihydroxyfuran-3-one
255564_SIAL
259133-78-3
3-Keto-L-gulofuranolactone
3-Oxo-L-gulofuranolactone
3-Oxo-L-gulofuranolactone (enol form)
30208-61-8
33034_RIEDEL
33034_SIAL
47863_SUPELCO
47A605F0-4187-47A8-B0CE-F9E7DA1B0076
50-81-7
50976-75-5
56172-55-5
56533-05-2
57304-74-2
57606-40-3
623158-95-2
6730-29-6
882690-91-7
884381-69-5
885512-24-3
88845-26-5
89924-69-6
95209_FLUKA
95209_SIGMA
95210_FLUKA
95210_SIAL
95212_FLUKA
A0278_SIGMA
A0537
A2174_SIGMA
A2218_SIGMA
A2343_SIGMA
A4403_SIGMA
A4544_SIGMA
A5960_SIGMA
A7506_SIGMA
A92902_ALDRICH
A92902_SIAL
AB00376923
AB1002440
AC1L1L4T
AC1Q77S6
AR-1J3435
Acid Ascorbic
Acide ascorbique
Acide ascorbique [INN-French]
Acido ascorbico
Acido ascorbico [INN-Spanish]
Acidum ascorbicum
Acidum ascorbicum [INN-Latin]
Acidum ascorbinicum
Adenex
Allercorb
Ambap36431-82-0
Antiscorbic vitamin
Antiscorbutic factor
Antiscorbutic vitamin
Arco-cee
Ascoltin
Ascoltin (TN)
Ascor-B.I.D.
Ascorb
Ascorbajen
Ascorbate
Ascorbic Acid
Ascorbic Acid, Monosodium Salt
Ascorbic acid
Ascorbic acid (JP15/USP/INN)
Ascorbic acid [BAN:INN:JAN]
Ascorbic acid [INN:BAN:JAN]
Ascorbicab
Ascorbicap
Ascorbicap (TN)
Ascorbicin
Ascorbin
Ascorbinsaeure
Ascorbinsäure
Ascorbutina
Ascorbyl radical
Ascorin
Ascorteal
Ascorvit
BPBio1_000363
BSPBio_000329
C-Level
C-Long
C-Quin
C-Span
C-Vimin
C00072
C6H8O6
CCRIS 57
CE-VI-Sol
CHEBI:29073
CHEMBL196
CID5785
Cantan
Cantaxin
Caswell No. 061B
Catavin C
Ce lent
Ce-Mi-Lin
Ce-mi-lin
Ce-vi-sol
Cebicure
Cebid
Cebion
Cebione
Cecon
Cee-Caps TD
Cee-Vite
Cee-caps TD
Cee-vite
Cegiolan
Ceglion
Ceklin
Celaskon
Celin
Cell C
Cemagyl
Cemill
Cenetone
Cenolate
Cereon
Cergona
Cescorbat
Cetamid
Cetane
Cetane-Caps TC
Cetane-Caps TD
Cetane-caps TC
Cetane-caps TD
Cetebe
Cetemican
Cevalin
 
Cevatine
Cevex
Cevi-Bid
Cevi-bid
Cevimin
Cevital
Cevitamate
Cevitamic acid
Cevitamin
Cevitan
Cevitex
Cewin
Chewcee
Ciamin
Cipca
Citriscorb
Citrovit
Colascor
Concemin
Cortalex
D00018
DB00126
Davitamon C
Dora-C-500
Duoscorb
EINECS 200-066-2
FEMA No. 2109
Ferancee
Ferrous ascorbate
HSDB 818
HiCee
Hicee
Hybrin
IDO-C
Ido-C
Iron(II) ascorbate
Iron-ascorbic acid complexes
Juvamine
Kangbingfeng
Kyselina askorbova
Kyselina askorbova [Czech]
L(+)-Ascorbate
L(+)-Ascorbic acid
L-(+)-Ascorbate
L-(+)-Ascorbic Acid
L-(+)-Ascorbic acid
L-(+)-ascorbic acid
L-3-Ketothreohexuronic acid lactone
L-3-ketothreohexuronic acid
L-Ascorbate
L-Ascorbic Acid
L-Ascorbic acid
L-Ascorbic acid, free radical form
L-Lyxoascorbate
L-Lyxoascorbic acid
L-Threo-ascorbic acid
L-Threoascorbic acid
L-Xyloascorbate
L-Xyloascorbic acid
L-ascorbate
L-threo-Hex-2-enonic acid, gamma-lactone
L-threo-ascorbic acid
L-threo-hex-2-enono-1,4-lactone
LS-145
Laroscorbine
Lemascorb
Liqui-Cee
Liqui-cee
MLS002153776
Magnesium Ascorbicum
Magnorbin
Meri-C
Meri-c
MolPort-001-792-501
Monodehydroascorbic acid
NCGC00091517-01
NCGC00091517-02
NCGC00164357-01
NCI-C54808
NSC 33832
Natrascorb
Natrascorb injectable
Oral Vitamin C
Planavit C
Prestwick3_000325
Proscorbin
Redoxon
Ribena
Ronotec 100
Rontex 100
Roscorbic
Rovimix C
SMR001233160
Scorbacid
Scorbu C
Scorbu-C
Secorbate
Semidehydroascorbate
Sodascorbate
Sodium Ascorbate (Ascorbic Acid)
Stuartinic
Suncoat VC 40
Sunkist
Testascorbic
Tolfrinic
UNII-PQ6CK8PD0R
VASC
Vicelat
Vicin
Vicomin C
Viforcit
Viscorin
Viscorin 100M
Vitace
Vitacee
Vitacimin
Vitacin
Vitamin C
Vitamin- C
Vitamin-?C
Vitamisin
Vitascorbol
W210901_ALDRICH
Xitix
acide ascorbique
acidum ascorbicum
acidum ascorbinicum
antiscorbic vita min
ascor-b.i.d
ascorbate
ascorbic acid
bmse000182
cee-caps td
cevibid
component of Cortalex
component of E and C-Level
component of Endoglobin Forte
component of Ferancee
gamma-Lactone L-threo-Hex-2-enonate
gamma-Lactone L-threo-Hex-2-enonic acid
l-ascorbic acid
l-threo-hex-1-eofuranos-3-ulose
nchembio.174-comp5
nchembio.89-comp1
nchembio.92-comp2
nchembio821-comp9
roscorbi c
vitamin C
ácido ascórbico
24-des-dimethylaminotetracyclinePhase 2, Phase 39
3Trace ElementsPhase 2, Phase 36001
4VitaminsPhase 2, Phase 35282
5Protective AgentsPhase 2, Phase 37443
6AntioxidantsPhase 2, Phase 33050
7MicronutrientsPhase 2, Phase 36001
8Pharmaceutical SolutionsPhase 3, Phase 28192
9
AcetylcholineapprovedPhase 2, Phase 180551-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
10Neurotransmitter AgentsPhase 2, Phase 118340
11onabotulinumtoxinAPhase 2, Phase 1652
12Peripheral Nervous System AgentsPhase 2, Phase 123689
13Neuromuscular AgentsPhase 2, Phase 11180
14Botulinum ToxinsPhase 2, Phase 1697
15abobotulinumtoxinAPhase 2, Phase 1652
16incobotulinumtoxinAPhase 2, Phase 1662
17Botulinum Toxins, Type APhase 2, Phase 1657
18Cholinergic AgentsPhase 2, Phase 13992
19serineNutraceuticalPhase 1, Phase 2954
20
Epinephrineapproved, vet_approved98551-43-45816
Synonyms:
(-)-(R)-Epinephrine
(-)-3,4-Dihydroxy-a-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-Dihydroxy-alpha-((methylamino)methyl)benzyl alcohol
(-)-3,4-Dihydroxy-alpha-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-dihydroxy-a-[(methylamino)methyl]-Benzyl alcohol
(-)-3,4-dihydroxy-alpha-[(methylamino)methyl]-Benzyl alcohol
(-)-Adrenalin
(-)-Adrenaline
(-)-Epinephrine
(-)-R-Epinephrine
(R)-(-)-Adnephrine
(R)-(-)-Adrenaline
(R)-(-)-Epinephrine
(R)-(-)-Epirenamine
(R)-(−)-adrenaline
(R)-4-[1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
(R)-4-[1-hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
(R)-Adrenaline
(R)-Epinephrine
(−)-adrenaline
02252_FLUKA
1-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
1-Adrenalin
1-Epinephrine
4-(1-Hydroxy-2-(methylamino)ethyl)-1,2-benzenediol
4-(1-hydroxy-2-methylamino-ethyl)benzene-1,2-diol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
4-[(1R)-1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diol
51-43-4
51-43-4 (FREE BASE)
51028-73-0
A0173
AC-13188
AC1L1L7B
ADR ADRENALINE
ADROP
AI3-19015
Adnephrine
Adrenal
Adrenalin
Adrenalin (TN)
Adrenalin in Oil
Adrenalin-Medihaler
Adrenalina
Adrenalina [DCIT]
Adrenaline
Adrenaline (JP15)
Adrenaline/Epinephrine
Adrenalinum
Adrenamine
Adrenan
Adrenapax
Adrenasol
Adrenatrate
Adrenine
Adrenodis
Adrenohorma
Adrenosan
Adrenutol
Adrin
Adrine
Ana-Guard
Ana-Kit
Antiasthmatique
Asmatane Mist
Asthma meter mist
Asthma-nefrin
Asthmahaler Mist
Asthmanefrin
Astmahalin
Astminhal
BIDD:GT0119
Balmadren
Bernarenin
Biorenine
Bosmin
Brevirenin
Bronkaid
Bronkaid Mist
Bronkaid Suspension Mist
Bupivacaine Hcl and Epinephrine
C00788
CCRIS 4812
CHEBI:28918
CHEMBL679
CID5816
Chelafrin
Citanest Forte
Corisol
D-Epifrin
D-Epinephrine
D00095
DB00668
Drenamist
Dylephrin
Dyspne-Inhal
E4250_SIGMA
EINECS 200-098-7
EPI E Z PEN JR
EPIPEN E Z PEN
EPIPEN JR
Epi EZ Pen Jr
Epifrin
Epiglaufrin
Epinefrin
Epinefrin [Czech]
Epinefrina
Epinefrina [INN-Spanish]
Epinephran
Epinephrin
Epinephrine
Epinephrine (USP)
Epinephrine (USP/INN)
Epinephrine [USAN:INN:JAN]
Epinephrine hydrochloride
Epinephrinum
Epinephrinum [INN-Latin]
Epipen
Epipen (TN)
Epipen Auto-Injector
Epipen EZ Pen
Epipen Jr.
Epipen Jr. Auto-Injector
Epirenamine
Epirenan
Epirenin
Epitrate
Eppy
Esphygmogenina
Exadrin
 
Glaucon
Glaucosan
Glauposine
Glycirenan
HSCI1_000215
HSDB 4289
Haemostasin
Haemostatin
Hektalin
Hemisine
Hemostasin
Hemostatin
Hypernephrin
Hyporenin
IOP
Intranefrin
Iontocaine
Isoptoepinal
Kidoline
L-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
L-Adrenaline
L-Adrenaline Base
L-Epinehphrine
L-Epinephrine
L-Epirenamine
L-Methylaminoethanolcatechol
L-epinephrine
LS-156
Levo-Methylaminoethanolcatechol
Levoadrenaline
Levoepinephrine
Levorenen
Levorenin
Levorenine
Levoreninum
Lopac-E-4642
Lyodrin
Lyophrin
Medihaler-Epi
Metanephrin
Methylaminoethanolcatechol
Methylarterenol
Micronefrin
Micronephrine
MolPort-002-051-368
Mucidrina
Myosthenine
Mytrate
NCGC00015417-01
NCGC00142615-01
NCGC00142615-03
NCGC00142615-04
NCGC00142615-05
NCGC00142615-06
NCGC00142615-07
NSC 62786
NSC62786
Nephridine
Nieraline
PDSP1_001120
PDSP2_001104
Paranephrin
Primatene
Primatene Mist
R-(-)-Epinephrine
R-Adrenaline
RCRA waste no. P042
Racemic Epinephrine
Racepinephrine
Rcra waste number P042
Renagladin
Renaglandin
Renaglandulin
Renaleptine
Renalina
Renoform
Renostypricin
Renostypticin
Renostyptin
SMP1_000227
ST069368
SUS-PHRINE SULFITE-FREE
Scurenaline
Septocaine
Simplene
Sindrenina
Soladren
Sphygmogenin
Stryptirenal
Styptirenal
Supracapsulin
Supradin
Supranefran
Supranephrane
Supranephrine
Supranol
Suprarenaline
Suprarenin
Suprel
Surenine
Surrenine
Sus-Phrine
Sus-phrine
Susphrine
Sympathin I
Takamina
Takamine
Tokamina
Tonogen
Twinject
Twinject 0.15
Twinject 0.3
Twinject 0.30
UNII-YKH834O4BH
Vaponefrin
Vasoconstrictine
Vasoconstrictor
Vasodrine
Vasoton
Vasotonin
adrenaline
bmse000316
d-Adrenaline
epinephrine
l-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
l-Adrenalin
l-Adrenaline
l-Epinephine
l-Epinephrine (synthetic)
l-Epirenamine
l-Methylaminoethanolcatechol
levoepinephrine
nchembio747-comp9
21
Mentholapproved26062216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
22
Lidocaineapproved, vet_approved1317137-58-63676
Synonyms:
.alpha.-(Diethylamino)-2,6-acetoxylidide
.alpha.-Diethylamino-2,6-dimethylacetanilide
.alpha.-Diethylaminoaceto-2,6-xylidide
.omega.-Diethylamino-2,6-dimethylacetanilide
137-58-6
2-(Diethylamino)-2',6'-acetoxylidide
2-(Diethylamino)-N-(2,6-dimethylphenyl)acetamide
2-Diethylamino-N-(2,6-dimethyl-phenyl)-acetamide
2-Diethylamino-N-(2,6-dimethylphenyl)acetamide
4-12-00-02538 (Beilstein Handbook Reference)
6108-05-0 (MONOHYDROCHLORIDE MONOHYDRATE))
6108-05-0 (mono-hydrochloride, mono-hydrate)
73-78-9 (mono-hydrochloride)
AB00053581
AC-10282
AC1L1GGQ
AC1Q2Z7J
AKOS001026768
ARONIS23855
After Burn Double Strength Gel
After Burn Double Strength Spray
After Burn Gel
After Burn Spray
Alphacaine
Anestacon
Anestacon Jelly
BIDD:GT0342
BPBio1_000197
BRD-K52662033-001-02-6
BRD-K52662033-003-05-5
BRN 2215784
BSPBio_000179
BSPBio_001359
BSPBio_003004
Bio-0767
Bio1_000379
Bio1_000868
Bio1_001357
Bio2_000079
Bio2_000559
C07073
C14H22N2O
CAS-73-78-9
CDS1_000283
CHEBI:6456
CHEMBL79
CID3676
CPD000058189
Cappicaine
Cito optadren
Cuivasil
D00358
DB00281
Dalcaine
Dentipatch
Dentipatch (TN)
DermaFlex
Diethylaminoaceto-2,6-xylidide
Dilocaine
DivK1c_000174
DivK1c_001323
Duncaine
EINECS 205-302-8
ELA-Max
EMBOLEX
Emla
Emla Cream
Esracaine
FT-0082378
Gravocain
HMS1791D21
HMS1989D21
HMS2051C21
HMS2089E15
HMS548M19
HSDB 3350
I01-2704
IDI1_000174
IDI1_033829
Isicaina
Isicaine
Jetocaine
KBio1_000174
KBio2_000079
KBio2_001598
KBio2_002647
KBio2_004166
KBio2_005215
KBio2_006734
KBio3_000157
KBio3_000158
KBio3_002224
KBioGR_000079
KBioGR_000599
KBioSS_000079
KBioSS_001598
L-Caine
L0156
L1026_SIGMA
L7757_SIGMA
LIDOCAINE (73-58-6 (MONOHYDROCHLORIDE)
LIDOPEN
LQZ
 
LS-805
Lanabiotic
Leostesin
Lida-Mantle
Lidocaina
Lidocaina [INN-Spanish]
Lidocaine (JP15/USP/INN)
Lidocaine (VAN)
Lidocaine Carbonate
Lidocaine Hydrocarbonate
Lidocaine Monohydrochloride
Lidocaine [USAN:INN:JAN]
Lidocainum
Lidocainum [INN-Latin]
Lidocaton
Lidoderm
Lidoject-1
Lidoject-2
Lignocaine
Lignocainum
Lingocaine
Lopac-L-5647
Lopac0_000669
MLS000069724
MLS000758263
MLS001074177
Maricaine
Maybridge1_002571
MolPort-001-783-478
N-(2,6-dimethylphenyl)-N(2),N(2)-diethylglycinamide
N-(2,6-dimethylphenyl)-N~2~,N~2~-diethylglycinamide
NCGC00015611-01
NCGC00015611-02
NCGC00015611-03
NCGC00015611-04
NCGC00015611-14
NCGC00022176-05
NCGC00022176-06
NCGC00022176-07
NCGC00022176-08
NCGC00022176-09
NINDS_000174
NSC 40030
NSC40030
Norwood Sunburn Spray
Octocaine
Octocaine-100
Octocaine-50
Prestwick0_000050
Prestwick1_000050
Prestwick2_000050
Prestwick3_000050
Remicaine
Rocephin Kit
Rucaina
S1357_Selleck
SAM001247018
SMR000058189
SPBio_001525
SPBio_002100
STK552033
Solarcaine
Solarcaine aloe extra burn relief cream
Solcain
Spectrum2_001343
Spectrum3_001392
Spectrum4_000070
Spectrum5_001549
Spectrum_001118
UNII-98PI200987
WLN: 2N2 & 1VMR B1 F1
Xilina
Xilocaina
Xilocaina [Italian]
Xllina
Xycaine
Xylestesin
Xylesthesin
Xylocain
Xylocaine
Xylocaine (TN)
Xylocaine 5% Spinal
Xylocaine CO2
Xylocaine Dental Ointment
Xylocaine Endotracheal
Xylocaine Test Dose
Xylocaine Viscous
Xylocaine-MPF
Xylocaine-MPF with Glucose
Xylocaine-Mpf
Xylocaine-Mpf with Glucose
Xylocard
Xylocitin
Xyloneural (free base)
Xylotox
Zilactin-L
Zingo
alfa-Dietilamino-2,6-dimetilacetanilide
alfa-Dietilamino-2,6-dimetilacetanilide [Italian]
alpha-Diethylamino-2,6-dimethylacetanilide
alpha-diethylamino-2,6-dimethylacetanilide
lidocaine
nchembio.65-comp16
α-diethylamino-2,6-dimethylacetanilide
23HIV Protease Inhibitors5470
24
protease inhibitors5471
Synonyms:
 
protease inhibitors
25Matrix Metalloproteinase Inhibitors19
26Epinephryl borate985
27Central Nervous System Depressants13403
28Mydriatics811
29Respiratory System Agents4997
30Racepinephrine985
31Adrenergic Agents5352
32Bronchodilator Agents2965
33Adrenergic alpha-Agonists1734
34Adrenergic Agonists3027
35Adrenergic beta-Agonists1714
36Anesthetics9596
37Autonomic Agents10150
38Anti-Asthmatic Agents3488
39Vasoconstrictor Agents2122
40CalamusNutraceutical459

Interventional clinical trials:

(show all 26)
idNameStatusNCT IDPhase
1Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A)Unknown statusNCT01289704Phase 2, Phase 3
2High Dose Ascorbic Acid Treatment of CMT1ACompletedNCT00484510Phase 2, Phase 3
3Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1ARecruitingNCT03023540Phase 3
4Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT)Active, not recruitingNCT02579759Phase 3
5Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1ACompletedNCT01401257Phase 2
6Ascorbic Acid Treatment in CMT1A Trial (AATIC)CompletedNCT00271635Phase 2
7Treatment of Thoracic Outlet Syndrome (TOS) With BotoxCompletedNCT00444886Phase 2
8Acute Human Study: StimRouter for Peripheral Nerve Stimulation of Discrete Peripheral NervesCompletedNCT00665132Phase 1, Phase 2
9Acupuncture for Carpal Tunnel SyndromeCompletedNCT00000394Phase 2
10Study of ACE-083 in Patients With Charcot-Marie-Tooth DiseaseRecruitingNCT03124459Phase 2
11Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1ARecruitingNCT02600286Phase 2
12SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot StudyRecruitingNCT02967679Phase 1, Phase 2
13L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1Active, not recruitingNCT01733407Phase 1, Phase 2
14Botulinum Toxin Injections for Thoracic Outlet SyndromeUnknown statusNCT01405482Phase 1
15Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1AUnknown statusNCT01750710
16Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2Unknown statusNCT01193088
17Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and OthersUnknown statusNCT01193075
18Efficacy of Pulsed Radiofrequency of the Median Nerve Under Ultrasound Guidance in Patients With Carpal Tunnel SyndromeCompletedNCT02217293
19Non-surgical Treatment of Carpal Tunnel Syndrome by Means of Mechanical TractionCompletedNCT01949493
20Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611)RecruitingNCT02979145
21Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
22Platelet Rich Plasma and Hydrodissection for Carpal Tunnel SyndromeRecruitingNCT02986828
23The Effect of Platelet Rich Plasma for Carpal Tunnel SyndromeRecruitingNCT02539186
24Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and BiomarkersNot yet recruitingNCT02596191
25BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth DiseaseNot yet recruitingNCT02982343
26Surgical Treatment of Carpal Tunnel Syndrome: Local Anesthesia With Epinephrine x Intravenous Regional Anesthesia.Not yet recruitingNCT02986347

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

Genetic Tests for Charcot-Marie-Tooth Disease, Type 1e

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

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease and Deafness27
2 Charcot-Marie-Tooth Disease, Type I27

Anatomical Context for Charcot-Marie-Tooth Disease, Type 1e

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MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Type 1e:

36
Spinal cord, Brain

Publications for Charcot-Marie-Tooth Disease, Type 1e

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

idTitleAuthorsYear
1
Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation. (23781966)
2013

Variations for Charcot-Marie-Tooth Disease, Type 1e

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

70
id Symbol AA change Variation ID SNP ID
1PMP22p.Ala67ProVAR_009661rs104894623
2PMP22p.Thr23ArgVAR_029961
3PMP22p.Trp28ArgVAR_029963rs104894626

Clinvar genetic disease variations for Charcot-Marie-Tooth Disease, Type 1e:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PMP22NM_ 000304.3(PMP22): c.117G> C (p.Trp39Cys)SNVPathogenicrs797044846GRCh37Chr 17, 15162472: 15162472
2PMP22NM_ 000304.3(PMP22): c.199G> C (p.Ala67Pro)SNVPathogenicrs104894623GRCh37Chr 17, 15142908: 15142908
3PMP22NM_ 000304.3(PMP22): c.82T> C (p.Trp28Arg)SNVPathogenicrs104894626GRCh37Chr 17, 15162507: 15162507
4PMP22NM_ 000304.3(PMP22): c.344_ 355delCCATCTACACGG (p.Ala115_ Thr118del)deletionPathogenicrs786205111GRCh38Chr 17, 15231045: 15231056
5PMP22NM_ 000304.3(PMP22): c.469C> T (p.Arg157Trp)SNVPathogenicrs28936682GRCh37Chr 17, 15134248: 15134248

Expression for genes affiliated with Charcot-Marie-Tooth Disease, Type 1e

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

Pathways for genes affiliated with Charcot-Marie-Tooth Disease, Type 1e

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

idSuper pathwaysScoreTop Affiliating Genes
19.6GJB1, MPZ, PMP22
29.3GDAP1, MAG

GO Terms for genes affiliated with Charcot-Marie-Tooth Disease, Type 1e

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

idNameGO IDScoreTop Affiliating Genes
1compact myelinGO:004321810.3MAG, PMP22
2intracellular membrane-bounded organelleGO:00432318.5EGR2, LITAF, MTMR2, SULT2B1

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

idNameGO IDScoreTop Affiliating Genes
1cell-cell adhesion via plasma-membrane adhesion moleculesGO:009874210.1MAG, MPZ
2myelinationGO:004255210.0EGR2, MPZ, PMP22
3negative regulation of neuron projection developmentGO:00109779.9MAG, PMP22
4peripheral nervous system developmentGO:00074229.8EGR2, PMP22

Sources for Charcot-Marie-Tooth Disease, Type 1e

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet