MCID: CHR536
MIFTS: 54

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:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards 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 51
Charcot-Marie-Tooth Disease 1a 67 24
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 Type 1a 45
Microduplication 17p12 51
Hmsn Ia 67
Hmsn 1a 45
Hmsn1a 67

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
charcot-marie-tooth disease, type 1a:
Onset and clinical course: variable expressivity, slow progression, juvenile onset, insidious onset
Inheritance: heterogeneous, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 118220
Orphanet51 101081
ICD10 via Orphanet28 G60.0
UMLS via Orphanet66 C0270911
UMLS65 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 neuropathy, inflammatory demyelinating, and has symptoms including foot dorsiflexor weakness, myelin outfoldings and distal amyotrophy. An important gene associated with Charcot-Marie-Tooth Disease, Type 1a is PMP22 (Peripheral Myelin Protein 22), and among its related pathways are EGFR Signaling Pathway and Agrin Interactions at Neuromuscular Junction. Affiliated tissues include neutrophil, t cells and bone.

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 Charcot-Marie-Tooth Disease Type 5
Charcot-Marie-Tooth Disease Type 7 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 2m
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 2v 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
Charcot-Marie-Tooth Disease Type 2t 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 155)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease, type 1e31.6CMT1A, NR0B1, PMP22
2neuropathy, inflammatory demyelinating31.1CMT1A, MPZ, NR0B1, PMP22
3dejerine-sottas disease31.1CMT1A, MPZ, NR0B1, PMP22
4myofascial pain syndrome31.0MPZ, PMP22
5charcot-marie-tooth disease, type 1b30.6MPZ, NR0B1
6neuropathy, recurrent, with pressure palsies29.6CMT1A, ERBB2, ERBB3, MPZ, MYH6, NR0B1
7roussy-levy syndrome11.6
8charcot-marie-tooth neuropathy11.4
9leukemia10.9
10prostatitis10.9
11prostate cancer10.7
12endotheliitis10.7
13myocardial infarction10.7
14breast cancer10.7
15gastric cancer10.7
16laryngotracheitis10.7
17oral squamous cell carcinoma10.7
18lymphoblastic leukemia10.7
19open-angle glaucoma10.7
20thyroiditis10.7
21neuronitis10.7
22colorectal cancer10.5
23hiv-110.5
24hepatitis c virus10.5
25renal cell carcinoma10.5
26myelodysplastic syndrome10.5
27cleidocranial dysplasia10.5
28machado-joseph disease10.5
29prader-willi syndrome10.5
30pigment dispersion syndrome10.5
31acute leukemia10.5
32arthritis10.5
33bipolar disorder10.5
34burns10.5
35charcot-marie-tooth disease10.5
36chronic granulomatous disease10.5
37congenital heart block10.5
38congestive heart failure10.5
39dilated cardiomyopathy10.5
40hepatitis10.5
41pemphigus vulgaris10.5
42pulmonary fibrosis10.5
43sinusitis10.5
44human monocytic ehrlichiosis10.5
45restless legs syndrome10.5
46atrioventricular block10.5
47third-degree atrioventricular block10.5
48fibroma10.5
49lymphoma10.5
50ductal carcinoma in situ10.5

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

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 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Vitamin Capproved, nutraceuticalPhase 2, Phase 342450-81-75785, 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
2VitaminsPhase 2, Phase 33857
3AntioxidantsPhase 2, Phase 32442
4Trace ElementsPhase 2, Phase 33900
5Protective AgentsPhase 2, Phase 35651
6MicronutrientsPhase 2, Phase 33901
7Pharmaceutical SolutionsPhase 37004

Interventional clinical trials:

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
9Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and BiomarkersNot yet recruitingNCT02596191
10Correlation 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

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
Neutrophil, T cells, Bone, Brain, Ovary, B cells, Endothelial

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

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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
Reproductive Outcome of Patients with Asherman's Syndrome: A SAIMS Experience. (27110522)
2015
2
Hypoxia-induced overexpression of stanniocalcin-1 is associated with the metastasis of early stage clear cell renal cell carcinoma. (25740019)
2015
3
Silencing SOX2 Expression by RNA Interference Inhibits Proliferation, Invasion and Metastasis, and Induces Apoptosis through MAP4K4/JNK Signaling Pathway in Human Laryngeal Cancer TU212 Cells. (26001828)
2015
4
Recurrent desmoid tumor of the mediastinum: A case report. (25295113)
2014
5
Tumor necrosis factor (TNF)-I+ induction of CXCL10 in endothelial cells requires protein arginine methyltransferase 5 (PRMT5)-mediated nuclear factor (NF)-I_B p65 methylation. (24753255)
2014
6
Molecular and clinical evaluation of the acute human parvovirus B19 infection: comparison of two cases in children with sickle cell disease and discussion of the literature. (23290473)
2013
7
Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome. (22415350)
2012
8
PHD finger of the SUMO ligase Siz/PIAS family in rice reveals specific binding for methylated histone H3 at lysine 4 and arginine 2. (22626555)
2012
9
Lipodystrophy and reversal of facial lipoatrophy in perinatally HIV-infected children and adolescents after discontinuation of stavudine. (22844004)
2012
10
Cerebral phaeohyphomycosis in a green iguana (Iguana iguana). (20040390)
2010
11
Predictors of short and long term outcome in patellofemoral pain syndrome: a prospective longitudinal study. (20082723)
2010
12
Epidemiology of brain tumors. (19107440)
2009
13
Association between the peroxisome proliferator-activated receptor gamma Pro12Ala variant and haplotype and pancreatic cancer in a high-risk cohort of smokers: a pilot study. (19436234)
2009
14
The supernatant of apoptotic cells causes transcriptional activation of hypoxia-inducible factor-1alpha in macrophages via sphingosine-1-phosphate and transforming growth factor-beta. (19549990)
2009
15
DNA methyltransferase I is a mediator of doxorubicin-induced genotoxicity in human cancer cells. (19292979)
2009
16
Distribution of left ventricular ejection fraction in patients with ischemic and hypertensive heart disease and chronic heart failure. (19892060)
2009
17
Cutaneous venous malformations in familial cerebral cavernomatosis caused by KRIT1 gene mutations. (19182478)
2009
18
Orthopaedic management of haemophilia arthropathy of the ankle. (18510538)
2008
19
Recommendations on diagnostic strategies for chronic inflammatory demyelinating polyradiculoneuropathy. (18202204)
2008
20
Single-molecule detection of phosphorylation-induced plasticity changes during ezrin activation. (17628548)
2007
21
Structure of the retinoblastoma protein bound to adenovirus E1A reveals the molecular basis for viral oncoprotein inactivation of a tumor suppressor. (17974914)
2007
22
Inhibition of proprotein convertases: approaches to block squamous carcinoma development and progression. (17440928)
2007
23
Cystatin C and estimates of renal function: searching for a better measure of kidney function in diabetic patients. (17259236)
2007
24
Association between variants in the genes for adiponectin and its receptors with insulin resistance syndrome (IRS)-related phenotypes in Mexican Americans. (16955209)
2006
25
RAD51AP2, a novel vertebrate- and meiotic-specific protein, shares a conserved RAD51-interacting C-terminal domain with RAD51AP1/PIR51. (16990250)
2006
26
Downstream target genes of the neuropeptide S-NPSR1 pathway. (16926187)
2006
27
RNA aptamers targeting the cell death inhibitor CED-9 induce cell killing in Caenorhabditis elegans. (16467303)
2006
28
Immunohistochemical demonstration of c-Kit protooncogene product in gallbladder cancer. (16708300)
2006
29
Long-chain acyl-CoA esters inhibit phosphorylation of AMP-activated protein kinase at threonine-172 by LKB1/STRAD/MO25. (15644453)
2005
30
Electrochemical sensor for immunoassay of carcinoembryonic antigen based on thionine monolayer modified gold electrode. (15936592)
2005
31
Qri2/Nse4, a component of the essential Smc5/6 DNA repair complex. (15752197)
2005
32
Characterisation of human kallikrein 6/protease M expression in ovarian cancer. (15305183)
2004
33
Adhesion molecule L1 stimulates neuronal migration through Vav2-Pak1 signaling. (15597056)
2004
34
Structure/function relationships responsible for the kinetic differences between human type 1 and type 2 3beta-hydroxysteroid dehydrogenase and for the catalysis of the type 1 activity. (12205101)
2002
35
Expression and significance of c-met protein in papillary thyroid carcinoma. (12472169)
2002
36
Estrogen protects against the synergistic toxicity by HIV proteins, methamphetamine and cocaine. (11252157)
2001
37
Hypotensive and natriuretic actions of adrenomedullin in subjects with chronic renal impairment. (11358941)
2001
38
Possible involvement of enhanced prostaglandin E2 production in the photosensitivity in xeroderma pigmentosum group A model mice. (10651981)
2000
39
Nonpeptidic ligands for peptide and protein receptors. (10419845)
1999
40
Aminorex, fenfluramine, and chlorphentermine are serotonin transporter substrates. Implications for primary pulmonary hypertension. (10458725)
1999
41
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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 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
19.3ERBB2, ERBB3
29.3ERBB2, ERBB3
39.3ERBB2, ERBB3
49.0ERBB2, 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
1basolateral plasma membraneGO:00163239.3ERBB2, ERBB3

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1peripheral nervous system developmentGO:00074229.8ERBB2, ERBB3
2regulation of phosphatidylinositol 3-kinase signalingGO:00140669.6ERBB2, ERBB3
3wound healingGO:00420609.5ERBB2, ERBB3
4myelinationGO:00425529.5ERBB2, PMP22
5peptidyl-tyrosine phosphorylationGO:00181089.3ERBB2, ERBB3
6transmembrane receptor protein tyrosine kinase signaling pathwayGO:00071699.2ERBB2, ERBB3
7ERBB2 signaling pathwayGO:00381289.0ERBB2, ERBB3

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:00047169.7ERBB2, ERBB3
2transmembrane signaling receptor activityGO:00048889.3ERBB2, ERBB3
3protein kinase activityGO:00046729.3ERBB2, 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