MCID: CHR536
MIFTS: 56

Charcot-Marie-Tooth Disease, Type 1a malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Muscle diseases, Ear diseases, Metabolic diseases categories

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

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 51Orphanet, 24GTR, 22GeneTests, 67UniProtKB/Swiss-Prot, 47Novoseek, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

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

Name: Charcot-Marie-Tooth Disease, Type 1a 49 11
Cmt1a 22 51 67
Hereditary Motor and Sensory Neuropathy 1a 45 22
Charcot-Marie-Tooth Neuropathy Type 1a 22 67
Charcot Marie Tooth Disease Type 1a 45 24
Charcot-Marie-Tooth Disease Type 1a 45 51
Cmt 1a 45 22
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked to Duffy 67
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 45
 
Charcot-Marie-Tooth Disease Demyelinating Type 1a 67
Hereditary Motor and Sensory Neuropathy Ia 67
Charcot-Marie-Tooth Neuropathy, Type 1a 47
Charcot-Marie-Tooth Disease, Type Ia 65
Charcot-Marie-Tooth Disease 1a 67
Microduplication 17p12 51
Hmsn 1a 45
Hmsn Ia 67
Hmsn1a 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
cmt1a:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

OMIM49 118220
Orphanet51 101081
ICD10 via Orphanet28 G60.0
UMLS via Orphanet66 C0270911

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

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UniProtKB/Swiss-Prot:67 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 charcot-marie-tooth disease, type 1e and charcot-marie-tooth disease, type 1b, 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 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:45 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:49 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 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 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 2h 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 2p
Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2p Surf1-Related Charcot-Marie-Tooth Disease Type 4
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Vcp Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g Autosomal Dominant Charcot-Marie-Tooth Disease Type 2k
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d

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

(show top 50)    (show all 135)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease, type 1e31.1CMT1A, NR0B1, PMP22
2charcot-marie-tooth disease, type 1b30.4MPZ, NR0B1
3charcot-marie-tooth disease11.6
4tooth disease11.6
5neuropathy11.1
6hereditary neuropathy with liability to pressure palsy11.0
7hereditary neuropathies11.0
8peripheral neuropathy10.9
9polyneuropathy10.8
10neuropathy, hereditary sensory, type if10.8
11roussy-levy syndrome10.8
12sensory peripheral neuropathy10.8
13motor peripheral neuropathy10.8
14critical illness polyneuropathy10.8
15congenital nervous system abnormality10.8
16hereditary sensory neuropathy10.8
17motor neuritis10.8
18nerve compression syndrome10.8
19nervous system disease10.8
20neuromuscular disease10.8
21peripheral nervous system disease10.8
22charcot-marie-tooth hereditary neuropathy10.8
23charcot-marie-tooth neuropathy type 110.8
24dnmt1-related dementia, deafness, and sensory neuropathy10.8
25hereditary peripheral nervous disorder10.8
26hereditary type 1 neuropathy10.8
27sensory neuropathy type 110.8
28charcot-marie-tooth neuropathy10.8
29pinched nerve10.8
30muscle disorders10.7
31charcot-marie-tooth disease intermediate type10.7
32muscle tissue disease10.7
33myopathy10.7
34hereditary type 2 neuropathy10.7
35intermediate charcot-marie-tooth neuropathy10.7
36chronic inflammatory demyelinating polyneuropathy10.6
37demyelinating polyneuropathy10.6
38mouth disease10.6
39c syndrome10.5
40duchenne muscular dystrophy10.5
41down syndrome10.5
42high pressure neurological syndrome10.5
43muscular dystrophy10.5
44genoa syndrome10.5
45peters anomaly10.5
46hereditary motor and sensory neuropathy v10.5
47peeling skin syndrome 110.5
48roberts syndrome10.5
49cohen syndrome10.5
50pick disease10.5

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 30)
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 autosomal dominant inheritance HP:0000006
10 hearing impairment HP:0000365
11 ulnar claw HP:0001178
12 hyporeflexia HP:0001265
13 areflexia HP:0001284
14 heterogeneous HP:0001425
15 hammertoe HP:0001765
16 distal muscle weakness HP:0002460
17 kyphoscoliosis HP:0002751
18 distal sensory impairment HP:0002936
19 steppage gait HP:0003376
20 decreased number of peripheral myelinated nerve fibers HP:0003380
21 onion bulb formation HP:0003383
22 cold-induced muscle cramps HP:0003449
23 segmental peripheral demyelination/remyelination HP:0003481
24 insidious onset HP:0003587
25 juvenile onset HP:0003621
26 slow progression HP:0003677
27 distal amyotrophy HP:0003693
28 variable expressivity HP:0003828
29 myelin outfoldings HP:0004336
30 foot dorsiflexor weakness HP:0009027

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 Capproved, nutraceuticalPhase 2, Phase 339850-81-75785, 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
Ascorbutina
Ascorbyl radical
Ascorin
Ascorteal
Ascorvit
BPBio1_000363
BSPBio_000329
Babor Baborganic Biological Enzyme Cleanser
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
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
e 300
e-300
e300
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
2
MexiletineapprovedPhase 21931828-71-44178
Synonyms:
(+-)-1-(2,6-Dimethylphenoxy)propan-2-amine
(+-)-1-(2,6-dimethylphenoxy)propan-2-amine
(2RS)-1-(2,6-dimethylphenoxy)-2-aminopropane
1-(2',6'-Dimethylphenoxy)-2-aminopropane
1-(2,6-Dimethylphenoxy)-2-propanamine
1-(2,6-dimethylphenoxy)propan-2-amine
1-Methyl-2-(2,6-xylyloxy)ethanamine
1-Methyl-2-(2,6-xylyloxy)ethylamine
1-methyl-2-(2,6-xylyloxy)ethanamine
2-(2-Aminopropoxy)-1,3-DiMethyl-Benzene Hydrochloride
2-(2-aminopropoxy)-1,3-dimethylbenzene
31828-71-4
5370-01-4 (hydrochloride)
AB00053683
AC1L1HL7
AC1Q2BC5
AC1Q2BC6
BPBio1_000026
BRD-A64092382-003-04-3
BRN 2092205
BSPBio_000022
BSPBio_002254
C07220
CHEBI:115958
CHEBI:6916
CHEMBL558
CID4178
D08215
DB00379
DivK1c_000834
EINECS 250-825-7
I01-6374
IDI1_000834
KBio1_000834
KBio2_002082
KBio2_004650
KBio2_007218
 
KBio3_001474
KBioGR_001270
KBioSS_002082
KO-1173
KO1173
KOE-1173
LS-68257
Lopac0_000784
Mexiletene
Mexiletina
Mexiletina [INN-Spanish]
Mexiletine
Mexiletine (INN)
Mexiletine HCL
Mexiletine Hydrochloride
Mexiletine [INN:BAN]
Mexiletinum
Mexiletinum [INN-Latin]
Mexilitine
Mexilétine
Mexitil
Mexityl
MolPort-001-790-944
NCGC00015659-04
NCGC00162253-01
NCGC00162253-02
NINDS_000834
Prestwick0_000241
Prestwick1_000241
Prestwick2_000241
Prestwick3_000241
SBB070242
SPBio_002241
Spectrum3_000727
Spectrum4_000795
Spectrum5_001279
Spectrum_001602
UNII-1U511HHV4Z

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 Patients With Charcot-Marie-Tooth Disease Type 1A (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
6Mexiletine for Muscle Cramps in Charcot Marie Tooth DiseaseRecruitingNCT02561702Phase 2
7Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1ANot yet recruitingNCT02600286Phase 2
8Driving Ability in Patients With CMT 1ARecruitingNCT02357355
9Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2RecruitingNCT01193088
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 Neuropathy Type 1a22 PMP22
2 Charcot-Marie-Tooth Disease, Type Ia24

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

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

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.9ERBB2, MBP, MPZ, NR0B1, PMP22
2MP:00053866.9ERBB2, 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 153)
idTitleAuthorsYear
1
Pain and small fiber function in Charcot Marie Tooth disease type 1A. (24395492)
2014
2
Evolution of Charcot-Marie-Tooth disease type 1A duplication: a 2-year clinico-electrophysiological and lower-limb muscle MRI longitudinal study. (24449066)
2014
3
Double-trouble in pediatric neurology: myotonia congenita combined with charcot-marie-tooth disease type 1a. (24515601)
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
Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. (22378661)
2012
8
Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients. (22996176)
2012
9
Electrophysiological characterization of Charcot-Marie-Tooth disease type 1A in Taiwan. (22632984)
2012
10
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. (21393063)
2011
11
Randomized trial of botulinum toxin to prevent pes cavus progression in pediatric Charcot-Marie-Tooth disease type 1A. (20544937)
2010
12
Charcot-Marie-Tooth disease type 1A: is ascorbic acid effective? (19818689)
2009
13
Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial. (19818690)
2009
14
Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A. (18844790)
2008
15
Case of Charcot-Marie-Tooth disease type 1A with increased cerebrospinal fluid proteins and nerve root hypertrophy]. (18616154)
2008
16
Hand involvement in children with Charcot-Marie-Tooth disease type 1A. (18993073)
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
Charcot-Marie-Tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study. (16788010)
2006
20
Charcot-Marie-Tooth disease type 1A: clinicopathological correlations in 24 patients. (15703022)
2005
21
Charcot-Marie-Tooth disease type 1A with central nervous system involvement in two generations. (15083299)
2004
22
Charcot-Marie-Tooth disease type 1A: a clinical, electrophysiological, pathological, and genetic study. (15239197)
2004
23
Nerve conduction abnormalities in the trembler-j mouse: a model for Charcot-Marie-Tooth disease type 1A? (15363066)
2004
24
Nerve excitability properties in Charcot-Marie-Tooth disease type 1A. (14607794)
2004
25
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
26
Auditory processing in patients with Charcot-Marie-Tooth disease type 1A. (14600466)
2003
27
Rapid detection of duplication/deletion of the PMP22 gene in patients with Charcot-Marie-Tooth disease Type 1A and hereditary neuropathy with liability to pressure palsy by real-time quantitative PCR using SYBR Green I dye. (14555828)
2003
28
Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A. (11331611)
2001
29
Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate. (10915777)
2000
30
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A. (10586272)
1999
31
Charcot-Marie-Tooth disease type 1A presenting as calf hypertrophy and muscle cramps. (9818900)
1998
32
Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study. (9566395)
1998
33
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
34
De novo mutation of Charcot-Marie-Tooth disease type 1A. (9308980)
1997
35
Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A. (8981968)
1997
36
Pressure palsy as the initial presentation in a case of late-onset Charcot-Marie-Tooth disease type 1A. (9240501)
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
Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A. (8937360)
1996
40
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
41
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
42
Phenotypic heterogeneity in Japanese Charcot-Marie-Tooth disease type 1A patients with PMP-22 gene duplication]. (8821490)
1995
43
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques. (8532623)
1995
44
Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations. (8615087)
1995
45
Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. (8252046)
1993
46
Identical point mutations of PMP-22 in Trembler-J mouse and Charcot- Marie-Tooth disease type 1A. (1303281)
1992
47
Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families. (1552536)
1992
48
The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. (1303230)
1992
49
Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy. (11980069)
1991-1992
50
Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2. (1674726)
1991

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:

67 (show all 11)
id Symbol AA change Variation ID SNP ID
1PMP22p.Leu16ProVAR_006360
2PMP22p.Ser72LeuVAR_006363
3PMP22p.Ser79CysVAR_006367
4PMP22p.Leu105ArgVAR_006373
5PMP22p.Gly107ValVAR_006374
6PMP22p.Thr118MetVAR_006375rs104894619
7PMP22p.Leu147ArgVAR_006377
8PMP22p.Asp37ValVAR_009660
9PMP22p.Gly93ArgVAR_009662
10PMP22p.Ser22PheVAR_029960
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 pathogenicGRCh38Chr 17, 15239555: 15239555
3PMP22NM_000304.3(PMP22): c.327C> A (p.Cys109Ter)single nucleotide variantPathogenicGRCh37Chr 17, 15134390: 15134390
4PMP22NM_000304.3(PMP22): c.434delT (p.Leu145Argfs)deletionPathogenicGRCh38Chr 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 pathways (with members indented)ScoreTop Affiliating Genes
19.2MBP, MPZ, PMP22
29.1ERBB2, ERBB3
39.1ERBB2, ERBB3
49.1ERBB2, ERBB3
59.1ERBB2, ERBB3
68.8ERBB2, 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
1myelin sheathGO:00432098.7ERBB2, MBP, MPZ
2basolateral 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:00140659.3ERBB2, ERBB3
2positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.1ERBB2, ERBB3
3peripheral nervous system developmentGO:00074228.9ERBB2, ERBB3, PMP22
4myelinationGO:00425528.8ERBB2, MBP

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

idNameGO IDScoreTop Affiliating Genes
1receptor signaling protein tyrosine kinase activityGO:00047169.2ERBB2, ERBB3
2transmembrane receptor protein tyrosine kinase activityGO:00047149.1ERBB2, ERBB3
3growth factor bindingGO:00198389.0ERBB2, ERBB3

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet