CMT1A
MCID: CHR536
MIFTS: 58

Charcot-Marie-Tooth Disease, Type 1a (CMT1A) 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:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 48NIH Rare Diseases, 50Novoseek, 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 1a:

Name: Charcot-Marie-Tooth Disease, Type 1a 52 12
Charcot-Marie-Tooth Disease Type 1a 11 48 54 13
Cmt1a 11 24 54 70
Hereditary Motor and Sensory Neuropathy 1a 11 48 24
Charcot-Marie-Tooth Neuropathy Type 1a 11 24 70
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 52 48
Charcot-Marie-Tooth Disease 1a 70 27
Microduplication 17p12 11 54
Hmsn1a 11 70
Cmt 1a 48 24
 
Autosomal Dominant Charcot-Marie-Tooth Disease with Focally Folded Myelin Sheaths Type 1a 11
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked to Duffy 70
Charcot-Marie-Tooth Disease Demyelinating Type 1a 70
Hereditary Motor and Sensory Neuropathy Ia 70
Charcot-Marie-Tooth Neuropathy, Type 1a 50
Charcot-Marie-Tooth Disease, Type Ia 68
Charcot Marie Tooth Disease Type 1a 48
Hmsn Ia 70
Hmsn 1a 48

Characteristics:

Orphanet epidemiological data:

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

HPO:

64
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:

OMIM52 118220
Disease Ontology11 DOID:0110148
ICD1030 G60.0
Orphanet54 ORPHA101081
UMLS via Orphanet69 C0270911
ICD10 via Orphanet31 G60.0

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

About this section
UniProtKB/Swiss-Prot:70 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 charcot-marie-tooth disease type 1a, is related to charcot-marie-tooth disease, type 1e and charcot-marie-tooth neuropathy, and has symptoms including pes cavus, abnormal motor neuron morphology and impaired vibratory sensation. An important gene associated with Charcot-Marie-Tooth Disease, Type 1a is PMP22 (Peripheral Myelin Protein 22), and among its related pathways are Alzheimers Disease Pathway and a6b1 and a6b4 Integrin signaling. Affiliated tissues include testes, skeletal muscle and spinal cord, and related mouse phenotypes are muscle and cellular.

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

NIH Rare Diseases:48 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:52 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

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

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease, type 1e29.2CMT1A, EGR2, ERBB2, ERBB3, GJB1, KIF1B
2charcot-marie-tooth neuropathy11.4
3roussy-levy syndrome11.3
4charcot-marie-tooth disease11.3
5tooth disease11.3
6charcot-marie-tooth disease, type 1b11.0
7neuropathy10.8
8hereditary neuropathy with liability to pressure palsy10.7
9hereditary neuropathies10.7
10chronic inflammatory demyelinating polyneuropathy10.3
11polyneuropathy10.3
12demyelinating polyneuropathy10.3
13hereditary type 2 neuropathy10.2MPZ, PMP22
14hypertonia10.2MPZ, PMP22
15rickets due to defect in vitamin d 25-hydroxylation10.2MBP, MPZ
16pitt-hopkins syndrome10.2
17myasthenia gravis10.2
18myotonia congenita10.2
19myotonia10.2
20charcot-marie-tooth disease, type 2i10.1KIF1B, MPZ
21charcot-marie-tooth disease, dominant intermediate d10.1KIF1B, MPZ
22craniorachischisis10.1MBP, MPZ, PMP22
23von economo's disease10.1MBP, MPZ, PMP22
24mohr-tranebjaerg syndrome10.1MBP, MPZ, PMP22
25non-gestational choriocarcinoma10.1MBP, MPZ, PMP22
26choreatic disease10.1MBP, MPZ, PMP22
27status epilepticus10.1MBP, MPZ, PMP22
28aortic aneurysm, familial thoracic 410.1KIF1B, MPZ
29white piedra10.1MBP, MPZ, PMP22
30pituitary adenoma, prolactin-secreting10.1MPZ, PMP22
31spermatogenic failure, x-linked, 210.1GJB1, MPZ
32methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type10.1KIF1B, MPZ
33wegmann jones smith syndrome10.1ERBB2, MPZ
34anomalous left coronary artery from the pulmonary artery10.0ERBB2, ERBB3
35surfactant metabolism dysfunction, pulmonary, 210.0GJB1, MPZ, PMP22
36spastic paraplegia 44, autosomal recessive10.0GJB1, MBP
37bladder lateral wall cancer10.0EGR2, PMP22
38uterine ligament serous adenocarcinoma10.0GJB1, MPZ, PMP22
39williams-beuren syndrome9.9GJB1, KIF1B, MPZ
40parastremmatic dwarfism9.9GJB1, KIF1B, MPZ
41mikulicz disease9.9ERBB2, ERBB3
42korsakoff's amnesic syndrome9.9GJB1, MBP, MPZ, PMP22
43substance-induced psychosis9.9GJB1, MBP, MPZ, PMP22
44pneumonic plague9.8GJB1, KIF1B, MPZ, PMP22
45acute sanguinous otitis media9.8GJB1, KIF1B, MPZ, PMP22
46dejerine-sottas disease9.8GJB1, KIF1B, MPZ, PMP22
47infantile epileptic encephalopathy9.8GJB1, KIF1B, MPZ, PMP22
48thrombophilia due to antithrombin iii deficiency9.8GJB1, KIF1B, MPZ, PMP22
49conotruncal heart malformations9.8GJB1, KIF1B, MPZ, PMP22
50chrna1-related congenital myasthenic syndrome9.7EGR2, GJB1, MPZ, 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 & Phenotypes for Charcot-Marie-Tooth Disease, Type 1a

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Symptoms by clinical synopsis from OMIM:

118220

Clinical features from OMIM:

118220

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

 64 (show all 25)
id Description HPO Frequency HPO Source Accession
1 pes cavus64 HP:0001761
2 abnormal motor neuron morphology64 HP:0002450
3 impaired vibratory sensation64 HP:0002495
4 hypertrophic nerve changes64 HP:0003382
5 decreased motor nerve conduction velocity64 HP:0003431
6 impaired pain sensation64 HP:0007328
7 impaired temperature sensation64 HP:0010829
8 impaired proprioception64 HP:0010831
9 hearing impairment64 HP:0000365
10 split hand64 HP:0001171
11 ulnar claw64 HP:0001178
12 hyporeflexia64 HP:0001265
13 areflexia64 HP:0001284
14 hammertoe64 HP:0001765
15 distal muscle weakness64 HP:0002460
16 kyphoscoliosis64 HP:0002751
17 distal sensory impairment64 HP:0002936
18 steppage gait64 HP:0003376
19 decreased number of peripheral myelinated nerve fibers64 HP:0003380
20 onion bulb formation64 HP:0003383
21 cold-induced muscle cramps64 HP:0003449
22 segmental peripheral demyelination/remyelination64 HP:0003481
23 distal amyotrophy64 HP:0003693
24 myelin outfoldings64 HP:0004336
25 foot dorsiflexor weakness64 HP:0009027

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.2ERBB2, ERBB3, KIF1B, MYH6, PMP22
2MP:00053848.1EGR2, ERBB2, ERBB3, GJB1, MBP, MPZ
3MP:00053767.4EGR2, ERBB2, ERBB3, GJB1, KIF1B, MBP
4MP:00053867.2EGR2, ERBB2, ERBB3, GJB1, KIF1B, MBP
5MP:00107687.1EGR2, ERBB2, ERBB3, GJB1, KIF1B, MBP
6MP:00036316.8EGR2, ERBB2, ERBB3, GJB1, KIF1B, MBP

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):

(show all 11)
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
3MicronutrientsPhase 2, Phase 36001
4AntioxidantsPhase 2, Phase 33050
5VitaminsPhase 2, Phase 35282
6Protective AgentsPhase 2, Phase 37443
7Trace ElementsPhase 2, Phase 36001
8Pharmaceutical SolutionsPhase 38192
9
protease inhibitors5471
Synonyms:
 
protease inhibitors
10Matrix Metalloproteinase Inhibitors19
11HIV Protease Inhibitors5470

Interventional clinical trials:

(show all 13)
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
7Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1ARecruitingNCT02600286Phase 2
8SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot StudyRecruitingNCT02967679Phase 1, Phase 2
9Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1AUnknown statusNCT01750710
10Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2Unknown statusNCT01193088
11Driving Ability in Patients With CMT 1ACompletedNCT02357355
12Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited NeuropathiesCompletedNCT02788734
13Tools 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 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 Ia27
2 Charcot-Marie-Tooth Neuropathy Type 1a24 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:

36
Testes, Skeletal muscle, Spinal cord

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 157)
idTitleAuthorsYear
1
Handwriting difficulties of children with Charcot-Marie-Tooth disease type 1A. (27917570)
2016
2
A New Next-Generation Sequencing-Based Assay for Concurrent Preimplantation Genetic Diagnosis of Charcot-Marie-Tooth Disease Type 1A and Aneuploidy Screening. (27020035)
2016
3
Erratum to: An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A. (27387831)
2016
4
Peripheral nerve ultrasound in pediatric Charcot-Marie-Tooth disease type 1A. (25576636)
2015
5
Erratum to: Respiratory dysfunction in Charcot-Marie-Tooth disease type 1A. (25904203)
2015
6
Coexistence of Charcot Marie Tooth disease type 1A and diabetes in Taiwan: A clinicopathological study. (26349404)
2015
7
Respiratory dysfunction in Charcot-Marie-Tooth disease type 1A. (25761374)
2015
8
Pain and small fiber function in Charcot Marie Tooth disease type 1A. (24395492)
2014
9
Electromyographic tendon reflex recording: An accurate and comfortable method for diagnosis of Charcot-Marie-Tooth disease type 1A. (25363904)
2014
10
An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A. (25519680)
2014
11
Double-trouble in pediatric neurology: myotonia congenita combined with charcot-marie-tooth disease type 1a. (24515601)
2014
12
Evolution of Charcot-Marie-Tooth disease type 1A duplication: a 2-year clinico-electrophysiological and lower-limb muscle MRI longitudinal study. (24449066)
2014
13
Usefulness of the modified F-ratio for assessments of proximal conduction in chronic inflammatory demyelinating polyneuropathy superimposed on Charcot Marie-Tooth disease type 1A. (24906712)
2014
14
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. (24646194)
2014
15
Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A. (23965405)
2013
16
Coexistence of Charcot-Marie-Tooth disease type 1A and anti-MAG neuropathy. (23781967)
2013
17
Whither hope for pharmacological treatment of Charcot-Marie-Tooth disease type 1A? (23797977)
2013
18
Quality of life in patients with Charcot-Marie-Tooth disease type 1A. (23828533)
2013
19
High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial. (23797954)
2013
20
Changes of gait pattern in children with Charcot-Marie-Tooth disease type 1A: a 18 months follow-up study. (23819439)
2013
21
Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients. (25337104)
2012
22
Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. (22378661)
2012
23
Subclinical Charcot-Marie-Tooth disease type 1A in an ex-professional cyclist. (22104693)
2012
24
Electrophysiological characterization of Charcot-Marie-Tooth disease type 1A in Taiwan. (22632984)
2012
25
Gait pattern classification in children with Charcot-Marie-Tooth disease type 1A. (21944474)
2012
26
Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients. (22996176)
2012
27
Muscle cramp in pediatric Charcot-Marie-Tooth disease type 1A: prevalence and predictors. (22131544)
2011
28
New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication. (21590514)
2011
29
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. (21393063)
2011
30
Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region. (20187762)
2010
31
Clinical progression in Charcot-Marie-Tooth disease type 1A duplication: clinico-electrophysiological and MRI longitudinal study of a family. (20443018)
2010
32
Randomized trial of botulinum toxin to prevent pes cavus progression in pediatric Charcot-Marie-Tooth disease type 1A. (20544937)
2010
33
Tripod pinch strength and thumb opposition are the major determinants of manual dexterity in Charcot-Marie-Tooth disease type 1A. (20562406)
2010
34
Factors associated with foot and ankle strength in healthy preschool-age children and age-matched cases of Charcot-Marie-Tooth disease type 1A. (19671887)
2010
35
Coexistence of two chronic neuropathies in a young child: Charcot-Marie-Tooth disease type 1A and chronic inflammatory demyelinating polyneuropathy. (20878740)
2010
36
Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial. (19818690)
2009
37
Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A. (19388151)
2009
38
Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A. (19923170)
2009
39
Phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication. (20225026)
2009
40
The alpha-chemokine CXCL14 is up-regulated in the sciatic nerve of a mouse model of Charcot-Marie-Tooth disease type 1A and alters myelin gene expression in cultured Schwann cells. (19111616)
2009
41
Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial. (19427269)
2009
42
Congenital pes cavus in a Charcot-Marie-tooth disease type 1A newborn. (19433282)
2009
43
Charcot-Marie-Tooth disease type 1A: is ascorbic acid effective? (19818689)
2009
44
Neuropathy progression in Charcot-Marie-Tooth disease type 1A. (18227419)
2008
45
Nerve-dependent changes in skeletal muscle myosin heavy chain after experimental denervation and cross-reinnervation and in a demyelinating mouse model of Charcot-Marie-Tooth disease type 1A. (19016545)
2008
46
Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A. (18602827)
2008
47
Case of Charcot-Marie-Tooth disease type 1A with increased cerebrospinal fluid proteins and nerve root hypertrophy]. (18616154)
2008
48
Increased severity over generations of Charcot-Marie-Tooth disease type 1A. (18438698)
2008
49
Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A. (18844790)
2008
50
Analysis of the benefits of vitamin cocktails in treating Charcot-Marie-Tooth disease type 1A. (18663735)
2008

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:

70 (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
id Gene Variation Type Significance SNP ID Assembly Location
1PMP22PMP22, 1.4-MB TRIPLICATIONundetermined variantPathogenic
2PMP22NM_ 000304.3(PMP22): c.235T> A (p.Ser79Thr)SNVLikely pathogenicrs863225027GRCh38Chr 17, 15239555: 15239555
3PMP22NM_ 000304.3(PMP22): c.327C> A (p.Cys109Ter)SNVPathogenicrs863225028GRCh37Chr 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)SNVPathogenicrs104894617GRCh37Chr 17, 15163998: 15163998
8PMP22NM_ 000304.3(PMP22): c.236C> G (p.Ser79Cys)SNVPathogenicrs104894618GRCh37Chr 17, 15142871: 15142871
9PMP22NM_ 000304.3(PMP22): c.281dupG (p.Arg95Glnfs)duplicationPathogenicrs80338763GRCh38Chr 17, 15239509: 15239509
10PMP22NM_ 000304.3(PMP22): c.65C> T (p.Ser22Phe)SNVPathogenicrs104894625GRCh37Chr 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
19.7ERBB2, ERBB3
29.4ERBB2, ERBB3, PMP22
38.9GJB1, MBP, MPZ, 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
1basolateral plasma membraneGO:00163239.9ERBB2, ERBB3, MPZ
2myelin sheathGO:00432099.4ERBB2, MBP, MPZ

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1ERBB2 signaling pathwayGO:003812810.3ERBB2, ERBB3
2negative regulation of ERBB signaling pathwayGO:190118510.2ERBB2, ERBB3
3chemical synaptic transmissionGO:000726810.2MBP, MPZ, PMP22
4phosphatidylinositol 3-kinase signalingGO:001406510.1ERBB2, ERBB3
5MAPK cascadeGO:00001659.9ERBB2, ERBB3, MBP
6regulation of cell motilityGO:20001459.9ERBB2, ERBB3
7motor neuron axon guidanceGO:00080459.8EGR2, ERBB2
8Schwann cell differentiationGO:00140379.2EGR2, ERBB3
9peripheral nervous system developmentGO:00074229.1EGR2, ERBB2, ERBB3, PMP22
10myelinationGO:00425528.8EGR2, ERBB2, MBP, MPZ, PMP22

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

idNameGO IDScoreTop Affiliating Genes
1growth factor bindingGO:001983810.2ERBB2, ERBB3
2transmembrane receptor protein tyrosine kinase activityGO:00047149.7ERBB2, ERBB3

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

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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