MCID: CHR537
MIFTS: 43

Charcot-Marie-Tooth Disease, Type 1e 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:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Charcot-Marie-Tooth Disease, Type 1e 50 12
Charcot-Marie-Tooth Disease Type 1 11 46 13
Hereditary Motor and Sensory Neuropathy Type 1 11 46
Charcot-Marie-Tooth Disease and Deafness 50 46
Charcot-Marie-Tooth Disease-Deafness 52 25
Charcot-Marie-Tooth Disease Type 1e 46 52
Charcot-Marie-Tooth Disease 1e 68 25
Cmt1e 52 68
Charcot-Marie-Tooth Neuropathy and Deafness, Autosomal Dominant 46
Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease 46
 
Charcot-Marie-Tooth Disease and Deafness Autosomal Dominant 68
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 46
Charcot-Marie-Tooth Disease Demyelinating Type 1e 68
Hereditary Motor and Sensory Neuropathy Type I 66
Charcot-Marie-Tooth Neuropathy Type 1e 68
Charcot-Marie-Tooth Neuropathy Type 1 46
Charcot Marie Tooth Disease Type 1e 46
Charcot-Marie-Tooth Type 1 46
Cmt 1e 46
Cmt1 46

Characteristics:

Orphanet epidemiological data:

52
charcot-marie-tooth disease-deafness:
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy; Age of death: normal life expectancy

HPO:

62
charcot-marie-tooth disease, type 1e:
Inheritance: autosomal dominant inheritance
Onset and clinical course: juvenile onset, childhood onset


Classifications:



External Ids:

OMIM50 118300
Disease Ontology11 DOID:0050538
Orphanet52 ORPHA90658
UMLS via Orphanet67 C1861669, C2931686
ICD10 via Orphanet29 G60.0
MESH via Orphanet38 C537986, C538078
MeSH37 D002607

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

About this section
NIH Rare Diseases:46 Charcot-marie-tooth disease type 1e (cmt1e) is a form of charcot-marie-tooth disease, which is a group of rare conditions that affect the peripheral nerves. signs and symptoms of cmt1e generally become apparent between age 5 and 25 years, although the age of onset and disease severity can vary significantly from person to person. in general, cmt1e is associated with the typical features of charcot-marie-tooth disease type 1 (progressive weakness of the feet and/or ankles; foot drop; atrophy of muscles below the knee; absent tendon reflexes of upper and lower extremities; and a decreased sensitivity to touch, heat, and cold in the feet and/or lower legs) in addition to hearing loss. cmt1e is caused by certain changes (mutations) in the pmp22 gene and is inherited in an autosomal dominant manner. treatment is based on the signs and symptoms present in each person. last updated: 2/18/2016

MalaCards based summary: Charcot-Marie-Tooth Disease, Type 1e, also known as charcot-marie-tooth disease type 1, is related to x-linked charcot-marie-tooth disease type 1 and charcot-marie-tooth type 1 aplasia cutis congenita, 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 is Neural Crest Differentiation. Related mouse phenotype homeostasis/metabolism.

Disease Ontology:11 A charcot-marie-tooth disease characterized by demyelination of the peripheral nerve axons.

UniProtKB/Swiss-Prot:68 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.

Description from OMIM:50 118300

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

About this section

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 Type X
Charcot-Marie-Tooth Disease Intermediate Type Charcot-Marie-Tooth Disease Type 5
Charcot-Marie-Tooth Disease Type 7 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 Intermediate Charcot-Marie-Tooth
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type a Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C Charcot-Marie-Tooth Disease Type 2h
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type a
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B 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 2p Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Surf1-Related Charcot-Marie-Tooth Disease Type 4 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation
Charcot-Marie-Tooth Disease Type 2t Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Vcp Mutation
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 all 47)
idRelated DiseaseScoreTop Affiliating Genes
1x-linked charcot-marie-tooth disease type 112.5
2charcot-marie-tooth type 1 aplasia cutis congenita12.4
3neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers11.4
4charcot-marie-tooth neuropathy type 111.4
5charcot-marie-tooth neuropathy, x-linked dominant, 111.3
6neuropathy10.4
7sensory neuropathy type 110.4
8congestive heart failure10.4MPZ, PMP22
9charcot-marie-tooth disease10.4
10tooth disease10.4
11charcot-marie-tooth disease, type 2i10.3MPZ, NR0B1
12headache10.3MPZ, PMP22
13charcot-marie-tooth disease, dominant intermediate d10.3MPZ, NR0B1
14charcot-marie-tooth disease, type 2j10.3MPZ, NR0B1
15chronic polyneuropathy10.3MPZ, PMP22
16smooth muscle tumor10.3MPZ, PMP22
17mohr-tranebjaerg syndrome10.2MPZ, PMP22
18smith-magenis syndrome10.2CMT1A, NR0B1, PMP22
19neuropathy, inflammatory demyelinating10.2CMT1A, NR0B1, PMP22
20achilles bursitis10.1MPZ, PMP22
21squamous cell papilloma10.1MPZ, PMP22
22brain stem cancer10.1LITAF, PMP22
23charcot-marie-tooth neuropathy x type 110.0EGR2, MPZ
24secondary lacrimal atrophy10.0MPZ, PMP22
25secondary hypertrophic osteoarthropathy10.0GJB1, MPZ, PMP22
26anal canal adenocarcinoma10.0GJB1, MPZ, PMP22
27hypertonia10.0GJB1, MPZ, PMP22
28trachea leiomyoma10.0GJB1, MPZ, PMP22
29angiodysplasia9.9GJB1, MPZ, PMP22
30pancreatic vasoactive intestinal peptide producing tumor9.9GJB1, MPZ, PMP22
31charcot-marie-tooth disease, type 1f9.9GJB1, MPZ, PMP22
32occupational dermatitis9.9GJB1, MPZ, PMP22
33charcot-marie-tooth disease, type 1b9.9GJB1, MPZ, NR0B1
34hereditary orotic aciduria without megaloblastic anaemia9.9LITAF, MPZ, PMP22
35diffuse large b-cell lymphoma9.8MPZ, PMP22
36chronic intestinal vascular insufficiency9.8GJB1, MPZ, PMP22
37charcot-marie-tooth disease, type 1e9.8CMT1A, MPZ, NR0B1, PMP22
38thrombophilia due to antithrombin iii deficiency9.8CMT1A, MPZ, NR0B1, PMP22
39neuropathy, congenital hypomyelinating9.7EGR2, MPZ, NR0B1, PMP22
40charcot-marie-tooth neuropathy type 2a9.6GJB1, LITAF, MPZ
41genital herpes9.5EGR2, GJB1, MPZ, PMP22
42charcot-marie-tooth neuropathy dominant intermediate f9.2CMT1A, EGR2, GJB1, MPZ, PMP22
43charcot-marie-tooth neuropathy type 2e/1f9.0EGR2, GJB1, LITAF, MPZ, PMP22
44amnestic disorder8.9EGR2, GJB1, LITAF, MPZ, PMP22
45childhood-onset cerebral x-linked adrenoleukodystrophy8.4ACKR1, EGR2, GJB1, LITAF, MPZ, PMP22
46dejerine-sottas disease7.5CMT1A, EGR2, GJB1, LITAF, MPZ, NR0B1
47potocki-lupski syndrome7.0ACKR1, CMT1A, EGR2, GJB1, LITAF, MPZ

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 for Charcot-Marie-Tooth Disease, Type 1e

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Symptoms by clinical synopsis from OMIM:

118300

Clinical features from OMIM:

118300

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

(show all 13)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment HP:0000407
2 split hand HP:0001171
3 hyporeflexia HP:0001265
4 areflexia HP:0001284
5 pes cavus HP:0001761
6 hammertoe HP:0001765
7 talipes calcaneovalgus HP:0001884
8 distal muscle weakness HP:0002460
9 distal sensory impairment HP:0002936
10 steppage gait HP:0003376
11 decreased motor nerve conduction velocity HP:0003431
12 distal amyotrophy HP:0003693
13 foot dorsiflexor weakness HP:0009027

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 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Vitamin CNutraceuticalPhase 2, Phase 348850-81-75785, 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
2
AcetylcholinePhase 2, Phase 175251-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
3serineNutraceuticalPhase 1, Phase 2883
4
Salmon Calcitonin9247931-85-116129616
Synonyms:
135506-95-5
47931-85-1
Astronin
Biocalcin
Bionocalcin
C028815
C06865
C145H239N43O48S2
CALCITONIN, SALMON
Cadens
Calciben
Calcihexal
Calcimar
Calcimar (TN)
Calcimonta
Calcinil
Calcioton
Calcitonin (Salmon Synthetic)
Calcitonin (salmon)
Calcitonin 1 precursor
Calcitonin Salmon
Calcitonin [USAN:INN:BAN:JAN]
Calcitonin salmon
Calcitonin salmon (USAN/INN)
Calcitonin salmon (synthesis)
Calcitonin salmon (synthesis) (JAN)
Calcitonin salmon recombinant
Calcitonin vom lachs
Calcitonin, salmar
Calcitonin, salmon
Calcitonin, salmon, for bioassay
Calcitonin,salmon
Calcitonin-salmon
Calcitonina
Calcitonine de saumon
Calcitoran
Calco
Calogen
Calsynar
Calsynar Lyo L
Caltine
Casalm
Catonin
Cibacalcin
Cibacalcine
Citonina
 
D00249
EINECS 256-342-8
Eptacalcin
Forcaltonin
Fortical
Fortical (TN)
Ipocalcin
Isi-calcin
Kalsimin
Karil
LS-48624
Miacalcic
Miacalcin
Miacalcin (TN)
Miracalcic
Oseototal
Osseocalcina
Osteobion
Osteovis
Ostosalm
Ostostabil
Porostenina
Prontocalcin
Quosten
Riostin
Rulicalcin
Salcat
Salcatonin
Salcatyn
Salmocalcin
Salmofar
Salmon calcitonin
Salmon calcitonin I
Salmon calcitonin-(I-32)
Salmotonin
Sical
Stalcin
Staporos
Steocin
TZ-CT
Thyrocalcitonin (salmon)
Tonocalcin
UNII-7SFC6U2VI5
Ucecal
recombinant salmon calcitonin
salmon calcitonin (1-32)
synthetic salmon calcitonin
5neurokinin A242
6
substance P23933507-63-044359816
Synonyms:
 
Arg-Pro-Lys-Pro-Gln-Gln-Phe-Phe-Gly-Leu-Met-NH2
7calcitonin104
8
protease inhibitors5157
Synonyms:
 
protease inhibitors
9CALCITONIN GENE-RELATED PEPTIDE92

Interventional clinical trials:

(show all 20)
idNameStatusNCT IDPhase
1High Dose Ascorbic Acid Treatment of CMT1ACompletedNCT00484510Phase 2, Phase 3
2Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT)RecruitingNCT02579759Phase 3
3Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A)Not yet recruitingNCT01289704Phase 2, Phase 3
4Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1ACompletedNCT01401257Phase 2
5Ascorbic Acid Treatment in CMT1A Trial (AATIC)CompletedNCT00271635Phase 2
6Treatment of Thoracic Outlet Syndrome (TOS) With BotoxCompletedNCT00444886Phase 2
7Acute Human Study: StimRouter for Peripheral Nerve Stimulation of Discrete Peripheral NervesCompletedNCT00665132Phase 1, Phase 2
8Acupuncture for Carpal Tunnel SyndromeCompletedNCT00000394Phase 2
9L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1Active, not recruitingNCT01733407Phase 1, Phase 2
10Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1ANot yet recruitingNCT02600286Phase 2
11Botulinum Toxin Injections for Thoracic Outlet SyndromeNot yet recruitingNCT01405482Phase 1
12Efficacy of Pulsed Radiofrequency of the Median Nerve Under Ultrasound Guidance in Patients With Carpal Tunnel SyndromeCompletedNCT02217293
13Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2RecruitingNCT01193088
14Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and OthersRecruitingNCT01193075
15Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
16The Effect of Platelet Rich Plasma for Carpal Tunnel SyndromeRecruitingNCT02539186
17Platelet Rich Plasma and Hydrodissection for Carpal Tunnel SyndromeRecruitingNCT02696161
18Non-surgical Treatment of Carpal Tunnel Syndrome by Means of Mechanical TractionActive, not recruitingNCT01949493
19Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1ANot yet recruitingNCT01750710
20Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and BiomarkersNot yet recruitingNCT02596191

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 Deafness25
2 Charcot-Marie-Tooth Disease, Type I25

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

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Animal Models for Charcot-Marie-Tooth Disease, Type 1e or affiliated genes

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053766.7ACKR1, EGR2, GJB1, LITAF, MPZ, NR0B1

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:

68
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)single nucleotide variantPathogenicrs797044846GRCh37Chr 17, 15162472: 15162472
2PMP22NM_000304.3(PMP22): c.199G> C (p.Ala67Pro)single nucleotide variantPathogenicrs104894623GRCh37Chr 17, 15142908: 15142908
3PMP22NM_000304.3(PMP22): c.82T> C (p.Trp28Arg)single nucleotide variantPathogenicrs104894626GRCh37Chr 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)single nucleotide variantPathogenicrs28936682GRCh37Chr 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
19.2GJB1, MPZ, PMP22

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

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

idNameGO IDScoreTop Affiliating Genes
1myelinationGO:00425529.7EGR2, PMP22
2peripheral nervous system developmentGO:00074229.6EGR2, PMP22

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet