MCID: CHR536
MIFTS: 55

Charcot-Marie-Tooth Disease, Type 1a malady

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

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

About this section
Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Charcot-Marie-Tooth Disease, Type 1a 50 12
Cmt1a 23 52 68
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 50 46
Hereditary Motor and Sensory Neuropathy 1a 46 23
Charcot-Marie-Tooth Neuropathy Type 1a 23 68
Charcot-Marie-Tooth Disease Type 1a 46 52
Charcot-Marie-Tooth Disease 1a 68 25
Cmt 1a 46 23
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked to Duffy 68
 
Charcot-Marie-Tooth Disease Demyelinating Type 1a 68
Hereditary Motor and Sensory Neuropathy Ia 68
Charcot-Marie-Tooth Neuropathy, Type 1a 48
Charcot-Marie-Tooth Disease, Type Ia 66
Charcot Marie Tooth Disease Type 1a 46
Microduplication 17p12 52
Hmsn Ia 68
Hmsn 1a 46
Hmsn1a 68

Characteristics:

Orphanet epidemiological data:

52
cmt1a:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy

HPO:

62
charcot-marie-tooth disease, type 1a:
Inheritance: autosomal dominant inheritance, heterogeneous
Onset and clinical course: insidious onset, juvenile onset, slow progression, variable expressivity


Classifications:



External Ids:

OMIM50 118220
Orphanet52 ORPHA101081
ICD10 via Orphanet29 G60.0
UMLS via Orphanet67 C0270911

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

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UniProtKB/Swiss-Prot:68 Charcot-Marie-Tooth disease 1A: 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, Type 1a, also known as cmt1a, is related to neuropathy, inflammatory demyelinating and dejerine-sottas disease, and has symptoms including gait, drop foot, gait, drop foot and pes cavus. An important gene associated with Charcot-Marie-Tooth Disease, Type 1a is PMP22 (Peripheral Myelin Protein 22), and among its related pathways are Neural Crest Differentiation and EGFR Signaling Pathway. Affiliated tissues include testes, skeletal muscle and spinal cord, and related mouse phenotypes are reproductive system and behavior/neurological.

NIH Rare Diseases:46 Charcot-marie-tooth disease type 1a (cmt1a) is a type of inherited neurological disorder that affects the peripheral nerves. affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience 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. treatment for this condition may include physical therapy; occupational therapy; braces and other orthopedic devices; orthopedic surgery; and pain medications. last updated: 9/7/2012

OMIM:50 For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1,... (118220) more...

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

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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 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 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy, inflammatory demyelinating31.3CMT1A, NR0B1, PMP22
2dejerine-sottas disease30.7CMT1A, MPZ, NR0B1, PMP22
3charcot-marie-tooth disease, type 1e27.2CMT1A, ERBB2, ERBB3, MBP, MPZ, MYH6
4charcot-marie-tooth disease11.4
5tooth disease11.4
6charcot-marie-tooth neuropathy11.4
7roussy-levy syndrome11.2
8neuropathy10.9
9neuropathy, recurrent, with pressure palsies10.9
10hereditary neuropathy with liability to pressure palsy10.8
11hereditary neuropathies10.8
12hereditary orotic aciduria without megaloblastic anaemia10.5MPZ, PMP22
13headache10.5MPZ, PMP22
14secondary hypertrophic osteoarthropathy10.5MPZ, PMP22
15charcot-marie-tooth neuropathy type 2e/1f10.4MPZ, PMP22
16chronic inflammatory demyelinating polyneuropathy10.4
17polyneuropathy10.4
18demyelinating polyneuropathy10.4
19anal canal adenocarcinoma10.4MPZ, PMP22
20trachea leiomyoma10.4MPZ, PMP22
21chronic polyneuropathy10.4MPZ, PMP22
22angiodysplasia10.3MPZ, PMP22
23pancreatic vasoactive intestinal peptide producing tumor10.3MPZ, PMP22
24charcot-marie-tooth disease, type 2i10.3MPZ, NR0B1
25charcot-marie-tooth disease, dominant intermediate d10.3MPZ, NR0B1
26ovarian papillary cystadenoma10.3MBP, MPZ
27charcot-marie-tooth disease, type 2j10.3MPZ, NR0B1
28pitt-hopkins syndrome10.3
29myasthenia gravis10.3
30myotonia congenita10.3
31myotonia10.3
32niemann-pick disease, type b10.3MBP, MPZ
33charcot-marie-tooth disease, type 1f10.2MPZ, PMP22
34occupational dermatitis10.2MPZ, PMP22
35charcot-marie-tooth disease, type 1b10.2MPZ, NR0B1
36weaver johnson syndrome10.1ERBB2, MPZ
37diffuse large b-cell lymphoma10.1MPZ, PMP22
38charcot-marie-tooth neuropathy dominant intermediate f10.1CMT1A, MPZ, PMP22
39congestive heart failure10.1MBP, MPZ, PMP22
40hypertonia10.1MBP, MPZ, PMP22
41smooth muscle tumor10.1MBP, MPZ, PMP22
42mohr-tranebjaerg syndrome10.1MBP, MPZ, PMP22
43achilles bursitis10.1MBP, MPZ, PMP22
44secondary lacrimal atrophy10.1MBP, MPZ, PMP22
45myelitis10.0MBP, PMP22
46squamous cell papilloma10.0MPZ, PMP22
47mucinous cystadenocarcinoma10.0ERBB2, NR0B1
48chronic intestinal vascular insufficiency10.0MBP, MPZ, PMP22
49smith-magenis syndrome10.0CMT1A, NR0B1, PMP22
50neuropathy, congenital hypomyelinating10.0MPZ, NR0B1, PMP22

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



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

Symptoms for Charcot-Marie-Tooth Disease, Type 1a

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Symptoms by clinical synopsis from OMIM:

118220

Clinical features from OMIM:

118220

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

(show all 24)
id Description Frequency HPO Source Accession
1 pes cavus HP:0001761
2 abnormal motor neuron morphology HP:0002450
3 impaired vibratory sensation HP:0002495
4 hypertrophic nerve changes HP:0003382
5 decreased motor nerve conduction velocity HP:0003431
6 impaired pain sensation HP:0007328
7 impaired temperature sensation HP:0010829
8 impaired proprioception HP:0010831
9 hearing impairment HP:0000365
10 ulnar claw HP:0001178
11 hyporeflexia HP:0001265
12 areflexia HP:0001284
13 hammertoe HP:0001765
14 distal muscle weakness HP:0002460
15 kyphoscoliosis HP:0002751
16 distal sensory impairment HP:0002936
17 steppage gait HP:0003376
18 decreased number of peripheral myelinated nerve fibers HP:0003380
19 onion bulb formation HP:0003383
20 cold-induced muscle cramps HP:0003449
21 segmental peripheral demyelination/remyelination HP:0003481
22 distal amyotrophy HP:0003693
23 myelin outfoldings HP:0004336
24 foot dorsiflexor weakness HP:0009027

UMLS symptoms related to Charcot-Marie-Tooth Disease, Type 1a:


gait, drop foot

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

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

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
protease inhibitors5157
Synonyms:
 
protease inhibitors

Interventional clinical trials:

(show all 11)
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
6Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1ANot yet recruitingNCT02600286Phase 2
7Driving Ability in Patients With CMT 1ARecruitingNCT02357355
8Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2RecruitingNCT01193088
9Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited NeuropathiesRecruitingNCT02788734
10Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and BiomarkersNot yet recruitingNCT02596191
11Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1ANot yet recruitingNCT01750710

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

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

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

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type Ia25
2 Charcot-Marie-Tooth Neuropathy Type 1a23 PMP22

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

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

34
Testes, Skeletal muscle, Spinal cord

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

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.1ERBB2, MBP, MPZ, NR0B1, PMP22
2MP:00053867.2ERBB2, ERBB3, MBP, MPZ, MYH6, PMP22

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

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

(show top 50)    (show all 154)
idTitleAuthorsYear
1
Peripheral nerve ultrasound in pediatric Charcot-Marie-Tooth disease type 1A. (25576636)
2015
2
Pain and small fiber function in Charcot Marie Tooth disease type 1A. (24395492)
2014
3
Evolution of Charcot-Marie-Tooth disease type 1A duplication: a 2-year clinico-electrophysiological and lower-limb muscle MRI longitudinal study. (24449066)
2014
4
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. (24646194)
2014
5
Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A. (23965405)
2013
6
Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients. (25337104)
2012
7
Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients. (22996176)
2012
8
Electrophysiological characterization of Charcot-Marie-Tooth disease type 1A in Taiwan. (22632984)
2012
9
Randomized trial of botulinum toxin to prevent pes cavus progression in pediatric Charcot-Marie-Tooth disease type 1A. (20544937)
2010
10
Charcot-Marie-Tooth disease type 1A: is ascorbic acid effective? (19818689)
2009
11
Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial. (19818690)
2009
12
Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A. (19388151)
2009
13
Congenital pes cavus in a Charcot-Marie-tooth disease type 1A newborn. (19433282)
2009
14
Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A. (18844790)
2008
15
Hand involvement in children with Charcot-Marie-Tooth disease type 1A. (18993073)
2008
16
Increased severity over generations of Charcot-Marie-Tooth disease type 1A. (18438698)
2008
17
Charcot-Marie-Tooth disease type 1A associated with acute porphyric neuropathy. (17956430)
2007
18
Overexpression of ErbB2 and ErbB3 receptors in Schwann cells of patients with Charcot-Marie-tooth disease type 1A. (16307437)
2006
19
Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A. (16449811)
2006
20
Pes cavus pathogenesis in Charcot-Marie-Tooth disease type 1A. (16803835)
2006
21
Charcot-Marie-Tooth disease type 1A: clinicopathological correlations in 24 patients. (15703022)
2005
22
Neurotrophin-3 therapy for Charcot-Marie-Tooth disease type 1A. (16157894)
2005
23
Nerve conduction abnormalities in the trembler-j mouse: a model for Charcot-Marie-Tooth disease type 1A? (15363066)
2004
24
Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication. (14502374)
2003
25
Proliferation of Schwann cells and regulation of cyclin D1 expression in an animal model of Charcot-Marie-Tooth disease type 1A. (11835311)
2002
26
Behavioural profiling of a murine Charcot-Marie-Tooth disease type 1A model. (11328356)
2001
27
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A. (10586272)
1999
28
Overview of Charcot-Marie-Tooth disease type 1A. (10586223)
1999
29
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization. (10360513)
1999
30
Charcot-Marie-Tooth disease type 1A presenting as calf hypertrophy and muscle cramps. (9818900)
1998
31
Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stages. (9852234)
1998
32
Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies. (9409359)
1997
33
De novo mutation of Charcot-Marie-Tooth disease type 1A. (9308980)
1997
34
Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A. (8981968)
1997
35
Heterogeneity in breakpoint location of duplication in Japanese Charcot-Marie-Tooth disease type 1A]. (9146075)
1997
36
Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A): normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs. (9341930)
1997
37
Normalized Southern Hybridization to Enhance Testing for Charcot-Marie-Tooth Disease, Type 1A. (10330199)
1996
38
Severe vincristine neuropathy in Charcot-Marie-Tooth disease type 1A. (8608515)
1996
39
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. (8644705)
1996
40
Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A. (8956042)
1996
41
Charcot-Marie-Tooth disease type 1A: a family study with microsatellites. (8972170)
1996
42
Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A. (8922056)
1996
43
Phenotypic heterogeneity in Japanese Charcot-Marie-Tooth disease type 1A patients with PMP-22 gene duplication]. (8821490)
1995
44
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques. (8532623)
1995
45
Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. (8080259)
1994
46
Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. (8252046)
1993
47
Charcot-Marie-Tooth disease type 1A, 9 November 1992, San Francisco, CA, U.S.A. (8329893)
1993
48
Identical point mutations of PMP-22 in Trembler-J mouse and Charcot- Marie-Tooth disease type 1A. (1303281)
1992
49
The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. (1303230)
1992
50
An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A. (1486731)
1992

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

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

68 (show all 11)
id Symbol AA change Variation ID SNP ID
1PMP22p.Leu16ProVAR_006360rs104894617
2PMP22p.Ser72LeuVAR_006363rs104894621
3PMP22p.Ser79CysVAR_006367rs104894618
4PMP22p.Leu105ArgVAR_006373
5PMP22p.Gly107ValVAR_006374
6PMP22p.Thr118MetVAR_006375rs104894619
7PMP22p.Leu147ArgVAR_006377
8PMP22p.Asp37ValVAR_009660rs104894627
9PMP22p.Gly93ArgVAR_009662rs778693173
10PMP22p.Ser22PheVAR_029960rs104894625
11PMP22p.Val65PheVAR_029964

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

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1PMP22PMP22, 1.4-MB TRIPLICATIONundetermined variantPathogenic
2PMP22NM_000304.3(PMP22): c.235T> A (p.Ser79Thr)single nucleotide variantLikely pathogenicrs863225027GRCh38Chr 17, 15239555: 15239555
3PMP22NM_000304.3(PMP22): c.327C> A (p.Cys109Ter)single nucleotide variantPathogenicrs863225028GRCh37Chr 17, 15134390: 15134390
4PMP22NM_000304.3(PMP22): c.434delT (p.Leu145Argfs)deletionPathogenicrs863225029GRCh38Chr 17, 15230966: 15230966
5PMP22NM_000304.3(PMP22): c.281delG (p.Gly94Alafs)deletionPathogenicrs786205112GRCh37Chr 17, 15142826: 15142826
6PMP22PMP22, 1.4-MB DUPduplicationPathogenic
7PMP22NM_000304.3(PMP22): c.47T> C (p.Leu16Pro)single nucleotide variantPathogenicrs104894617GRCh37Chr 17, 15163998: 15163998
8PMP22NM_000304.3(PMP22): c.236C> G (p.Ser79Cys)single nucleotide variantPathogenicrs104894618GRCh37Chr 17, 15142871: 15142871
9PMP22NM_000304.3(PMP22): c.353C> T (p.Thr118Met)single nucleotide variantPathogenicrs104894619GRCh37Chr 17, 15134364: 15134364
10PMP22NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs)duplicationPathogenicrs80338763GRCh38Chr 17, 15239509: 15239509
11PMP22NM_000304.3(PMP22): c.65C> T (p.Ser22Phe)single nucleotide variantPathogenicrs104894625GRCh37Chr 17, 15163980: 15163980

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

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

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

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

idSuper pathwaysScoreTop Affiliating Genes
19.2MBP, MPZ, PMP22
29.1ERBB2, ERBB3
39.1ERBB2, ERBB3
49.1ERBB2, ERBB3
58.8ERBB2, ERBB3, PMP22

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

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

idNameGO IDScoreTop Affiliating Genes
1compact myelinGO:004321810.0MBP, PMP22
2myelin sheathGO:00432098.7ERBB2, MBP, MPZ
3basolateral plasma membraneGO:00163238.4ERBB2, ERBB3, MPZ

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol 3-kinase signalingGO:00140659.6ERBB2, ERBB3
2ERBB2 signaling pathwayGO:00381289.4ERBB2, ERBB3
3regulation of cell motilityGO:20001459.2ERBB2, ERBB3
4chemical synaptic transmissionGO:00072689.2MBP, MPZ, PMP22
5peripheral nervous system developmentGO:00074229.1ERBB2, ERBB3, PMP22
6myelinationGO:00425528.9ERBB2, MBP, PMP22

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

idNameGO IDScoreTop Affiliating Genes
1growth factor bindingGO:00198389.2ERBB2, ERBB3
2phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.1ERBB2, ERBB3

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

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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