MCID: CHR113
MIFTS: 32

Charcot-Marie-Tooth Neuropathy Type 1 malady

Categories: Genetic diseases (common), Neuronal diseases, Ear diseases, Mental diseases

Aliases & Classifications for Charcot-Marie-Tooth Neuropathy Type 1

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Aliases & Descriptions for Charcot-Marie-Tooth Neuropathy Type 1:

Name: Charcot-Marie-Tooth Neuropathy Type 1 23 24
Charcot-Marie-Tooth Neuropathy Type 1e 24 26
Dejerine-Sottas Disease 24 67
Hmsn1 23 24
Cmt1 23 24
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 67
 
Hereditary Motor and Sensory Neuropathy Type I 67
Hereditary Motor and Sensory Neuropathy 1 24
Charcot-Marie-Tooth Disease and Deafness 24
Hereditary Motorsensory Neuropathy 1 23
Cmt 1e 24
Cmt1e 24

Characteristics:

GeneReviews:

23
Penetrance: penetrance of cmt1 is usually nearly 100%, but the wide range in age of onset and severity may result in under-recognition of individuals with mild or late-onset disease...


Classifications:



Summaries for Charcot-Marie-Tooth Neuropathy Type 1

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MalaCards based summary: Charcot-Marie-Tooth Neuropathy Type 1, also known as charcot-marie-tooth neuropathy type 1e, is related to charcot-marie-tooth disease, type 1e and neuropathy, congenital hypomyelinating, and has symptoms including gait, drop foot, ataxia, sensory and gait, drop foot. An important gene associated with Charcot-Marie-Tooth Neuropathy Type 1 is PMP22 (Peripheral Myelin Protein 22), and among its related pathways is Neural Crest Differentiation. Related mouse phenotypes are behavior/neurological and nervous system.

GeneReviews for NBK1205

Related Diseases for Charcot-Marie-Tooth Neuropathy Type 1

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Diseases in the Charcot-Marie-Tooth Neuropathy family:

Charcot-Marie-Tooth Hereditary Neuropathy charcot-marie-tooth neuropathy type 1
Charcot-Marie-Tooth Neuropathy Type 2a Charcot-Marie-Tooth Neuropathy Type 2e/1f
Charcot-Marie-Tooth Neuropathy Type 4j Charcot-Marie-Tooth Neuropathy X Type 1
Charcot-Marie-Tooth Neuropathy X Type 5 Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy
Charcot-Marie-Tooth Neuropathy X Intermediate Charcot-Marie-Tooth Neuropathy
Plekhg5-Related Intermediate Charcot-Marie-Tooth Neuropathy C Charcot-Marie-Tooth Neuropathy Type 2h/2k
Charcot-Marie-Tooth Neuropathy Type 2i/2j Charcot-Marie-Tooth Neuropathy Type 2l
Charcot-Marie-Tooth Neuropathy Type 2n Charcot-Marie-Tooth Neuropathy Type 2o
Charcot-Marie-Tooth Neuropathy Type 4b3 Charcot-Marie-Tooth Neuropathy Type 4f
Charcot-Marie-Tooth Neuropathy X Type 2 Charcot-Marie-Tooth Neuropathy X Type 3
Charcot-Marie-Tooth Neuropathy X Type 4 Charcot-Marie-Tooth Neuropathy X Type 6
Gdap1-Related Intermediate Charcot-Marie-Tooth Neuropathy Kars-Related Intermediate Charcot-Marie-Tooth Neuropathy
Prps1-Related Charcot-Marie-Tooth Neuropathy X Type 5

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease, type 1e32.2MPZ, PMP22
2neuropathy, congenital hypomyelinating31.8EGR2, MPZ, PMP22
3dejerine-sottas disease31.3EGR2, GJB1, LITAF, MPZ, PMP22, PRX
4pmp2-related charcot-marie-tooth disease type 111.3
5charcot-marie-tooth disease, type 4f11.2
6charcot-marie-tooth neuropathy type 4f11.2
7neuropathy10.6
8charcot-marie-tooth neuropathy10.6
9congestive heart failure10.3MPZ, PMP22
10headache10.3MPZ, PMP22
11charcot-marie-tooth neuropathy x type 310.2MPZ, PRX
12chronic polyneuropathy10.2MPZ, PMP22
13smooth muscle tumor10.2MPZ, PMP22
14dystonia10.2
15mohr-tranebjaerg syndrome10.1MPZ, PMP22
16thrombophilia due to antithrombin iii deficiency10.1MPZ, PMP22
17charcot-marie-tooth disease, type 1b10.1GJB1, MPZ
18achilles bursitis10.0MPZ, PMP22
19squamous cell papilloma10.0MPZ, PMP22
20pituitary adenoma, growth hormone-secreting10.0NEFL, PMP22
21secondary lacrimal atrophy9.9MPZ, PMP22
22anal canal adenocarcinoma9.9GJB1, MPZ, PMP22
23trachea leiomyoma9.9GJB1, MPZ, PMP22
24angiodysplasia9.9GJB1, MPZ, PMP22
25pancreatic vasoactive intestinal peptide producing tumor9.9GJB1, MPZ, PMP22
26occupational dermatitis9.9GJB1, MPZ, PMP22
27brain stem cancer9.9LITAF, PMP22
28charcot-marie-tooth neuropathy x type 19.8EGR2, MPZ, PRX
29chronic intestinal vascular insufficiency9.8GJB1, MPZ, PMP22
30diffuse large b-cell lymphoma9.8MPZ, PMP22
31aortic aneurysm, familial thoracic 49.7LITAF, NEFL
32hereditary orotic aciduria without megaloblastic anaemia9.7LITAF, MPZ, PMP22
33charcot-marie-tooth neuropathy type 2a9.5GJB1, LITAF, MPZ
34secondary hypertrophic osteoarthropathy9.5GJB1, MPZ, PMP22, PRX
35hypertonia9.5GJB1, MPZ, PMP22, PRX
36charcot-marie-tooth disease, type 1f9.4GJB1, MPZ, NEFL, PMP22
37genital herpes9.1EGR2, GJB1, MPZ, PMP22, PRX
38charcot-marie-tooth neuropathy dominant intermediate f9.0EGR2, GJB1, MPZ, NEFL, PMP22
39potocki-lupski syndrome8.8EGR2, GJB1, LITAF, MPZ, PMP22
40charcot-marie-tooth neuropathy type 2e/1f8.3EGR2, GJB1, LITAF, MPZ, NEFL, PMP22
41amnestic disorder7.8EGR2, GJB1, LITAF, MPZ, NEFL, PMP22
42childhood-onset cerebral x-linked adrenoleukodystrophy7.8EGR2, GJB1, LITAF, MPZ, NEFL, PMP22

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



Diseases related to charcot-marie-tooth neuropathy type 1

Symptoms for Charcot-Marie-Tooth Neuropathy Type 1

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UMLS symptoms related to Charcot-Marie-Tooth Neuropathy Type 1:


gait, drop foot, ataxia, sensory

Drugs & Therapeutics for Charcot-Marie-Tooth Neuropathy Type 1

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

(show all 32)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Vitamin Capproved, nutraceuticalPhase 2, Phase 351450-81-75785, 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
AA
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
Antiscorbic vitamin
Antiscorbutic Vitamin
Antiscorbutic factor
Antiscorbutic vitamin
Arco-Cee
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 lent
Ce-Mi-Lin
Ce-mi-lin
Ce-vi-sol
Cebicure
Cebid
Cebion
Cebione
Cecon
Cee-Caps TD
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
Cetane-caps TC
Cetane-caps TD
Cetebe
 
Cetemican
Cevalin
Cevatine
Cevex
Cevi-Bid
Cevi-bid
Cevimin
Cevital
Cevitamate
Cevitamic Acid
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
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-Lyxoascorbic acid
L-Threo-ascorbic acid
L-Threoascorbic acid
L-Xyloascorbate
L-Xyloascorbic Acid
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 38
3AntioxidantsPhase 2, Phase 32928
4Trace ElementsPhase 2, Phase 35802
5VitaminsPhase 2, Phase 35095
6MicronutrientsPhase 2, Phase 35802
7Protective AgentsPhase 2, Phase 37190
8Pharmaceutical SolutionsPhase 37793
9serineNutraceuticalPhase 1, Phase 2921
10
Mentholapproved23532216-51-516666
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
11
Epinephrineapproved, vet_approved93351-43-45816
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
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RCRA waste no. P042
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bmse000316
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l-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
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l-Epirenamine
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nchembio747-comp9
12
Lidocaineapproved, vet_approved1226137-58-63676
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
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BRN 2215784
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Bio-0767
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Bio2_000559
C07073
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CAS-73-78-9
CDS1_000283
CHEBI:6456
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ELA-Max
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IDI1_033829
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KBio2_001598
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KBio2_004166
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KBio2_006734
KBio3_000157
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N-(2,6-dimethylphenyl)-N(2),N(2)-diethylglycinamide
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NCGC00015611-01
NCGC00015611-02
NCGC00015611-03
NCGC00015611-04
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Spectrum_001118
UNII-98PI200987
WLN: 2N2 & 1VMR B1 F1
Xilina
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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
13Matrix Metalloproteinase Inhibitors18
14HIV Protease Inhibitors5319
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protease inhibitors5320
Synonyms:
 
protease inhibitors
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31Central Nervous System Depressants12806
32CalamusNutraceutical419

Interventional clinical trials:

(show all 23)
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
3Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT)Active, not recruitingNCT02579759Phase 3
4Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1ANot yet recruitingNCT03023540Phase 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
7Acute Human Study: StimRouter for Peripheral Nerve Stimulation of Discrete Peripheral NervesCompletedNCT00665132Phase 1, Phase 2
8Acupuncture for Carpal Tunnel SyndromeCompletedNCT00000394Phase 2
9SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot StudyRecruitingNCT02967679Phase 1, Phase 2
10L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1Active, not recruitingNCT01733407Phase 1, Phase 2
11Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1ANot yet recruitingNCT02600286Phase 2
12Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1AUnknown statusNCT01750710
13Efficacy of Pulsed Radiofrequency of the Median Nerve Under Ultrasound Guidance in Patients With Carpal Tunnel SyndromeCompletedNCT02217293
14Non-surgical Treatment of Carpal Tunnel Syndrome by Means of Mechanical TractionCompletedNCT01949493
15Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2RecruitingNCT01193088
16Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and OthersRecruitingNCT01193075
17Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
18Platelet Rich Plasma and Hydrodissection for Carpal Tunnel SyndromeRecruitingNCT02986828
19Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611)RecruitingNCT02979145
20The Effect of Platelet Rich Plasma for Carpal Tunnel SyndromeRecruitingNCT02539186
21Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and BiomarkersNot yet recruitingNCT02596191
22BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth DiseaseNot yet recruitingNCT02982343
23Surgical Treatment of Carpal Tunnel Syndrome: Local Anesthesia With Epinephrine x Intravenous Regional Anesthesia.Not yet recruitingNCT02986347

Search NIH Clinical Center for Charcot-Marie-Tooth Neuropathy Type 1

Genetic Tests for Charcot-Marie-Tooth Neuropathy Type 1

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Genetic tests related to Charcot-Marie-Tooth Neuropathy Type 1:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy Type 126 24 PMP22
2 Charcot-Marie-Tooth Neuropathy Type 1e24 PMP22

Anatomical Context for Charcot-Marie-Tooth Neuropathy Type 1

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Animal Models for Charcot-Marie-Tooth Neuropathy Type 1 or affiliated genes

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MGI Mouse Phenotypes related to Charcot-Marie-Tooth Neuropathy Type 1:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.0EGR2, GJB1, MPZ, NEFL, PMP22, PRX
2MP:00036316.7EGR2, GJB1, LITAF, MPZ, NEFL, PMP22

Publications for Charcot-Marie-Tooth Neuropathy Type 1

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Articles related to Charcot-Marie-Tooth Neuropathy Type 1:

idTitleAuthorsYear
1
Concurrence of dystonia 1 and Charcot-Marie-Tooth Neuropathy, type 1 A, in a large family. (21412843)
2011
2
Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1. (16922730)
2006
3
Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie- Tooth neuropathy type 1: identification of five new mutations. (8990008)
1997
4
Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1. (7688964)
1993
5
Is the duplication present in all family members affected with Charcot-Marie-Tooth neuropathy type 1 A? (8011481)
1993
6
Charcot-Marie-Tooth Neuropathy Type 1 (20301384)
1993
7
Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus. (1407588)
1992
8
Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12. (2220808)
1990
9
Linkage between the loci for autosomal dominant Charcot-Marie-Tooth neuropathy type 1 and human glucocerebrosidase. (3163969)
1988

Variations for Charcot-Marie-Tooth Neuropathy Type 1

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Clinvar genetic disease variations for Charcot-Marie-Tooth Neuropathy Type 1:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1GJB1NM_000166.5(GJB1): c.407T> C (p.Val136Ala)SNVPathogenicrs104894826GRCh37Chr X, 70443964: 70443964
2MPZNM_000530.7(MPZ): c.499G> C (p.Gly167Arg)SNVPathogenicrs121913586GRCh37Chr 1, 161276204: 161276204
3EGR2NM_000399.4(EGR2): c.1075C> T (p.Arg359Trp)SNVPathogenicrs104894161GRCh37Chr 10, 64573323: 64573323
4PMP22NM_000304.3(PMP22): c.117G> C (p.Trp39Cys)SNVPathogenicrs797044846GRCh37Chr 17, 15162472: 15162472
5PRXNM_181882.2(PRX): c.2787delC (p.Lys930Serfs)deletionPathogenicrs754521978GRCh38Chr 19, 40395565: 40395565
6PRXNM_181882.2(PRX): c.586C> T (p.Arg196Ter)SNVPathogenicrs104894706GRCh37Chr 19, 40903673: 40903673
7PRXNM_181882.2(PRX): c.3208C> T (p.Arg1070Ter)SNVPathogenicrs104894708GRCh37Chr 19, 40901051: 40901051
8PRXPRX, 10-BP INS, NT394insertionPathogenicChr na, -1: -1
9PRXPRX, 4-BP DEL, 1194TTCCdeletionPathogenicChr na, -1: -1
10PMP22NM_000304.3(PMP22): c.215C> T (p.Ser72Leu)SNVPathogenicrs104894621GRCh37Chr 17, 15142892: 15142892
11PMP22NM_000304.3(PMP22): c.199G> C (p.Ala67Pro)SNVPathogenicrs104894623GRCh37Chr 17, 15142908: 15142908
12PMP22NM_000304.3(PMP22): c.82T> C (p.Trp28Arg)SNVPathogenicrs104894626GRCh37Chr 17, 15162507: 15162507
13PMP22NM_000304.3(PMP22): c.344_355delCCATCTACACGG (p.Ala115_Thr118del)deletionPathogenicrs786205111GRCh38Chr 17, 15231045: 15231056
14PMP22NM_000304.3(PMP22): c.469C> T (p.Arg157Trp)SNVPathogenicrs28936682GRCh37Chr 17, 15134248: 15134248

Expression for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 1

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Search GEO for disease gene expression data for Charcot-Marie-Tooth Neuropathy Type 1.

Pathways for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 1

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Pathways related to Charcot-Marie-Tooth Neuropathy Type 1 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.2GJB1, MPZ, PMP22

GO Terms for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 1

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

idNameGO IDScoreTop Affiliating Genes
1myelin sheathGO:00432098.6MPZ, NEFL, PRX

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

idNameGO IDScoreTop Affiliating Genes
1peripheral nervous system developmentGO:00074229.6EGR2, PMP22
2myelinationGO:00425529.6EGR2, PMP22

Sources for Charcot-Marie-Tooth Neuropathy Type 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet