MCID: CHR129
MIFTS: 64

Charcot-Marie-Tooth Disease Type 1a malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Muscle diseases, Ear diseases, Mental diseases, Metabolic diseases categories
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Summaries for Charcot-Marie-Tooth Disease Type 1a

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NIH Rare Diseases:42 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

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 and tooth disease, and has symptoms including An important gene associated with Charcot-Marie-Tooth Disease Type 1a is CMT1A (Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia)), and among its related pathways are Neural Crest Differentiation and IL-6 Signaling Pathway. The compounds dihydroprogesterone and jnj 28871063 hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include testes, spinal cord and skeletal muscle, and related mouse phenotypes are reproductive system and muscle.

Description from OMIM:46 118220

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

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Sources:
42NIH Rare Diseases, 48Orphanet, 22GTR, 46OMIM, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

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

Name: Charcot-Marie-Tooth Disease Type 1a 42 48
Charcot Marie Tooth Disease Type 1a 42 22
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 42
Hereditary Motor and Sensory Neuropathy 1a 42
Charcot-Marie-Tooth Disease, Type 1a 46
 
Charcot-Marie-Tooth Disease, Type Ia 62
Microduplication 17p12 48
Hmsn 1a 42
Cmt 1a 42
Cmt1a 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
charcot-marie-tooth disease type 1a:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Childhood


External Ids:

OMIM46 118220
ICD10 via Orphanet26 G60.0
UMLS via Orphanet63 C0270911

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 2 Charcot-Marie-Tooth Disease Type 1
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 3 Charcot-Marie-Tooth Disease Type 4
Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Neuropathy Type 1
Charcot-Marie-Tooth Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy Type 2a
Charcot-Marie-Tooth Neuropathy Type 2e/1f Charcot-Marie-Tooth Neuropathy Type 4
Charcot-Marie-Tooth Neuropathy Type 4a Charcot-Marie-Tooth Neuropathy Type 4c
Charcot-Marie-Tooth Neuropathy Type 4h Charcot-Marie-Tooth Neuropathy Type 4j
Charcot-Marie-Tooth Neuropathy X Type 1 Charcot-Marie-Tooth Neuropathy X Type 5
Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Disease Dominant Intermediate 1
Charcot-Marie-Tooth Disease Dominant Intermediate 2 Charcot-Marie-Tooth Disease Dominant Intermediate 3
charcot-marie-tooth disease type 1a Charcot-Marie-Tooth Disease Type 1b
Charcot-Marie-Tooth Disease Type 1c Charcot-Marie-Tooth Disease Type 1d
Charcot-Marie-Tooth Disease Type 1f Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2b Charcot-Marie-Tooth Disease Type 2b1
Charcot-Marie-Tooth Disease Type 2b2 Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease Type 2d Charcot-Marie-Tooth Disease Type 2f
Charcot-Marie-Tooth Disease Type 2g Charcot-Marie-Tooth Disease Type 2h
Charcot-Marie-Tooth Disease Type 2i Charcot-Marie-Tooth Disease Type 2j
Charcot-Marie-Tooth Disease Type 2k Charcot-Marie-Tooth Disease Type 4b1
Charcot-Marie-Tooth Disease Type 4b2 Charcot-Marie-Tooth Neuropathy X
Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Multi-Gene Panels
Charcot-Marie-Tooth Neuropathy Type 4b2 Charcot-Marie-Tooth Neuropathy Type 2b2
Charcot-Marie-Tooth Neuropathy Type 2b1 Charcot-Marie-Tooth Neuropathy Type 2g
Charcot-Marie-Tooth Neuropathy Type 2l Charcot-Marie-Tooth Neuropathy Type 2i/2j
Charcot-Marie-Tooth Neuropathy Type 2h/2k Charcot-Marie-Tooth Neuropathy X Type 2
Charcot-Marie-Tooth Neuropathy X Type 3 Charcot-Marie-Tooth Neuropathy X Type 4
Prps1-Related Charcot-Marie-Tooth Neuropathy X Type 5 Yars-Related Intermediate Charcot-Marie-Tooth Neuropathy
Mpz-Related Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Type 2n
Kars-Related Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Type 2d
Gdap1-Related Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Type 2o
Charcot-Marie-Tooth Neuropathy Type 2p Charcot-Marie-Tooth Neuropathy Type 4b3
Charcot-Marie-Tooth Neuropathy Type 1b Charcot-Marie-Tooth Neuropathy Type 1c
Charcot-Marie-Tooth Neuropathy Type 2a2 Charcot-Marie-Tooth Neuropathy Type 2b
Charcot-Marie-Tooth Neuropathy Type 2c Charcot-Marie-Tooth Neuropathy Type 4b1
Charcot-Marie-Tooth Neuropathy Type 4d Charcot-Marie-Tooth Neuropathy Type 4f
Charcot-Marie-Tooth Neuropathy Type 1a Charcot-Marie-Tooth Neuropathy Type 1d
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 2r Charcot-Marie-Tooth Disease, Recessive Intermediate, a
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Recessive Intermediate, B
Charcot-Marie-Tooth Disease, Dominant Intermediate B Charcot-Marie-Tooth Disease, Type 4f
Charcot-Marie-Tooth Disease, Type 4b3 Surf1-Related Charcot-Marie-Tooth Disease Type 4

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

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease32.7MPZ, PMP22
2tooth disease32.7PMP22, MPZ
3hereditary neuropathy with liability to pressure palsies32.1PMP22
4hereditary neuropathies31.8MPZ, PMP22
5neuropathy31.7PMP22, MPZ, NTF3
6chronic inflammatory demyelinating polyneuropathy31.3PMP22, MPZ
7polyneuropathy31.1MPZ, PMP22
8inherited peripheral neuropathy31.0PMP22, MPZ
9charcot-marie-tooth neuropathy type 130.7MPZ, PMP22
10charcot-marie-tooth neuropathy type 1a30.6MPZ, PMP22
11charcot-marie-tooth disease type 130.6CMT1A, PMP22
12neuropathy, inflammatory demyelinating30.4PMP22, CMT1A
13neuropathy, recurrent, with pressure palsies30.4CMT1A, PMP22
14charcot-marie-tooth disease type 330.3PMP22, MPZ
15hereditary neuropathy with liability to pressure palsy11.0
16peripheral neuropathy10.8
17blindness10.8
18demyelinating polyneuropathy10.6
19myasthenia gravis10.5
20pitt-hopkins syndrome10.5
21small fiber neuropathy10.5
22pelizaeus-merzbacher disease10.4MPZ
23polyradiculoneuropathy10.4PMP22
24wallerian degeneration10.4MPZ
25charcot-marie-tooth disease type 410.2MPZ, PMP22
26brachial plexus neuropathy10.2PMP22, MPZ
27charcot-marie-tooth disease type 1b10.2
28guillain-barre syndrome10.2PMP22, MPZ
29spinal muscular atrophy10.2
30muscular atrophy10.2
31neuritis10.2PMP22, MPZ
32diabetes mellitus10.1
33demyelinating disease10.1NTF3, MPZ
34diabetic neuropathy10.0NTF3, MPZ, PMP22
35sensory peripheral neuropathy10.0PMP22, MPZ, NTF3
36type 2 diabetes mellitus10.0
37poems syndrome10.0
38arthropathy10.0
39charcot-marie-tooth disease, type 2a110.0
40charcot-marie-tooth disease, type 2a210.0
41subacute inflammatory demyelinating polyneuropathy10.0
42neurilemmoma10.0NTF3, MPZ, PMP22
43myopathy10.0MYH6, MPZ, PMP22
44salivary gland adenoid cystic carcinoma9.9ERBB2, ERBB3
45transitional cell carcinoma9.9ERBB3, ERBB2
46papillary carcinoma9.8ERBB3, ERBB2
47medulloblastoma9.7NTF3, ERBB2, ERBB3
48pancreatic cancer9.6NTF3, ERBB2, ERBB3
49malignant glioma9.5PMP22, NTF3, ERBB3

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 34)
id Description Frequency HPO Source Accession
1 pes cavus HP:0001761
2 abnormality of the motor neurons 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 pes cavus HP:0001761
16 hammertoe HP:0001765
17 distal muscle weakness HP:0002460
18 kyphoscoliosis HP:0002751
19 distal sensory impairment HP:0002936
20 steppage gait HP:0003376
21 decreased number of peripheral myelinated nerve fibers HP:0003380
22 hypertrophic nerve changes HP:0003382
23 onion bulb formation HP:0003383
24 decreased motor nerve conduction velocity HP:0003431
25 cold-induced muscle cramps HP:0003449
26 segmental peripheral demyelination/remyelination HP:0003481
27 insidious onset HP:0003587
28 juvenile onset HP:0003621
29 slow progression HP:0003677
30 limb muscle weakness HP:0003690
31 distal amyotrophy HP:0003693
32 variable expressivity HP:0003828
33 myelin outfoldings HP:0004336
34 foot dorsiflexor weakness HP:0009027

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

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Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Disease Type 1a

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 Ia22

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

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

32
Testes, Spinal cord, Skeletal muscle

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:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.5ERBB2, NTF3, MPZ, PMP22
2MP:00053697.6PMP22, MYH6, NTF3, ERBB2, ERBB3
3MP:00036317.5PMP22, MPZ, NTF3, ERBB2, ERBB3
4MP:00053867.2ERBB3, ERBB2, NTF3, MYH6, MPZ, PMP22
5MP:00053767.2MPZ, MYH6, NTF3, ERBB2, ERBB3
6MP:00107687.1PMP22, MPZ, MYH6, NTF3, ERBB2, ERBB3

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 147)
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
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. (24646194)
2014
4
Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A. (23965405)
2013
5
Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients. (25337104)
2012
6
Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. (22378661)
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
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. (21393063)
2011
10
Randomized trial of botulinum toxin to prevent pes cavus progression in pediatric Charcot-Marie-Tooth disease type 1A. (20544937)
2010
11
Charcot-Marie-Tooth disease type 1A: is ascorbic acid effective? (19818689)
2009
12
Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial. (19818690)
2009
13
Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A. (18844790)
2008
14
Case of Charcot-Marie-Tooth disease type 1A with increased cerebrospinal fluid proteins and nerve root hypertrophy]. (18616154)
2008
15
Hand involvement in children with Charcot-Marie-Tooth disease type 1A. (18993073)
2008
16
Charcot-Marie-Tooth disease type 1A associated with acute porphyric neuropathy. (17956430)
2007
17
Overexpression of ErbB2 and ErbB3 receptors in Schwann cells of patients with Charcot-Marie-tooth disease type 1A. (16307437)
2006
18
Charcot-Marie-Tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study. (16788010)
2006
19
Charcot-Marie-Tooth disease type 1A: clinicopathological correlations in 24 patients. (15703022)
2005
20
Charcot-Marie-Tooth disease type 1A with central nervous system involvement in two generations. (15083299)
2004
21
Charcot-Marie-Tooth disease type 1A: a clinical, electrophysiological, pathological, and genetic study. (15239197)
2004
22
Nerve conduction abnormalities in the trembler-j mouse: a model for Charcot-Marie-Tooth disease type 1A? (15363066)
2004
23
Nerve excitability properties in Charcot-Marie-Tooth disease type 1A. (14607794)
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
Auditory processing in patients with Charcot-Marie-Tooth disease type 1A. (14600466)
2003
26
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
27
Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A. (11331611)
2001
28
Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate. (10915777)
2000
29
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A. (10586272)
1999
30
Charcot-Marie-Tooth disease type 1A presenting as calf hypertrophy and muscle cramps. (9818900)
1998
31
Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study. (9566395)
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
Pressure palsy as the initial presentation in a case of late-onset Charcot-Marie-Tooth disease type 1A. (9240501)
1997
36
Normalized Southern Hybridization to Enhance Testing for Charcot-Marie-Tooth Disease, Type 1A. (10330199)
1996
37
Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion. (8682501)
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:

64 (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:

6
id Gene Name Type Significance SNP ID Assembly Location
1PMP22PMP22, 1.4-MB TRIPLICATIONundetermined variantPathogenic
2PMP22PMP22, 1-BP DEL, 281GdeletionPathogenic
3PMP22PMP22, 1.4-MB DUPduplicationPathogenic
4PMP22NM_000304.3(PMP22): c.47T> C (p.Leu16Pro)single nucleotide variantPathogenicrs104894617GRCh37Chr 17, 15163998: 15163998
5PMP22NM_000304.3(PMP22): c.236C> G (p.Ser79Cys)single nucleotide variantPathogenicrs104894618GRCh37Chr 17, 15142871: 15142871
6PMP22NM_000304.3(PMP22): c.353C> T (p.Thr118Met)single nucleotide variantPathogenicrs104894619GRCh37Chr 17, 15134364: 15134364
7PMP22NM_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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Expression patterns in normal tissues for genes affiliated with Charcot-Marie-Tooth Disease Type 1a

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/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6MPZ, PMP22
29.1ERBB3, ERBB2
3
Show member pathways
9.1ERBB3, ERBB2
4
Show member pathways
ErbB receptor signaling network37
ErbB signaling pathway37
9.1ERBB3, ERBB2
5
Show member pathways
Development Ligand independent activation of ESR1 and ESR260
9.1ERBB3, ERBB2
69.1ERBB3, ERBB2
79.1ERBB2, ERBB3
89.1ERBB3, ERBB2
9
Show member pathways
9.1ERBB2, ERBB3
109.1ERBB3, ERBB2
11
Show member pathways
8.8MYH6, NTF3, ERBB2
128.7ERBB3, ERBB2, PMP22
13
Show member pathways
8.6MYH6, ERBB2, ERBB3
14
Show member pathways
8.5ERBB3, ERBB2, NTF3
15
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
8.5ERBB3, ERBB2, NTF3
16
Show member pathways
8.5ERBB3, ERBB2, NTF3
17
Show member pathways
8.5NTF3, ERBB2, ERBB3
18
Show member pathways
8.5NTF3, ERBB2, ERBB3
19
Show member pathways
8.5NTF3, ERBB2, ERBB3
20
Show member pathways
8.5NTF3, ERBB2, ERBB3
21
Show member pathways
8.5NTF3, ERBB2, ERBB3
22
Show member pathways
8.0ERBB3, ERBB2, NTF3, MYH6

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

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Compounds related to Charcot-Marie-Tooth Disease Type 1a according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1dihydroprogesterone4410.0PMP22, MPZ
2jnj 28871063 hydrochloride619.5ERBB2, ERBB3
3ag 490619.5ERBB2, ERBB3
4ag 1478 hydrochloride619.5ERBB2, ERBB3
5iressa619.5ERBB2, ERBB3
6pertuzumab44 50 1111.5ERBB3, ERBB2
7o-tyrosine449.5ERBB3, ERBB2
8hrgbeta1449.5ERBB3, ERBB2
9lapatinib44 50 1111.5ERBB3, ERBB2
10cetuximab44 50 1111.4ERBB3, ERBB2
11ganglioside449.4NTF3, MPZ, PMP22
12erlotinib44 50 1111.3ERBB3, ERBB2
13trastuzumab44 50 1111.3ERBB2, ERBB3
14ag 1478449.2ERBB2, ERBB3
15biotin44 24 1111.2ERBB2, MPZ
16gefitinib44 50 1111.2ERBB3, ERBB2
17chloramphenicol44 2 50 1112.1MYH6, NTF3, ERBB2
18p002449.1ERBB3, ERBB2
19gemcitabine44 50 1111.0ERBB3, ERBB2
20carbachol44 28 1110.9NTF3, ERBB2, ERBB3
21forskolin44 50 1110.9PMP22, NTF3, ERBB3
22agar448.9ERBB3, ERBB2, NTF3
23aspartate448.8PMP22, MPZ, NTF3, ERBB2
24acetylcholine44 50 28 24 1112.8ERBB3, ERBB2, NTF3
25rapamycin448.8NTF3, ERBB2, ERBB3
26ly294002448.8ERBB3, ERBB2, NTF3
27wortmannin448.8NTF3, ERBB2, ERBB3
28paraffin448.8ERBB3, ERBB2, NTF3
29genistein44 28 61 2 24 1113.7ERBB3, ERBB2, NTF3
30heparin44 28 24 1111.7NTF3, ERBB2, ERBB3
31arginine448.4PMP22, MPZ, MYH6, NTF3, ERBB2
32estrogen448.3MYH6, NTF3, ERBB2, ERBB3
33serine448.1ERBB3, ERBB2, MYH6, MPZ, PMP22
34progesterone44 28 61 24 1112.1ERBB3, ERBB2, NTF3, MPZ, PMP22
35tyrosine448.1MPZ, NTF3, ERBB2, ERBB3
36steroid448.1PMP22, MPZ, NTF3, ERBB2, ERBB3

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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:0432359.1ERBB3, ERBB2

Biological processes related to Charcot-Marie-Tooth Disease Type 1a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myelinationGO:0425529.2ERBB2, NTF3
2phosphatidylinositol 3-kinase signalingGO:0140659.1ERBB2, ERBB3
3negative regulation of neuron apoptotic processGO:0435249.0ERBB3, NTF3
4wound healingGO:0420608.8ERBB3, ERBB2
5transmembrane receptor protein tyrosine kinase signaling pathwayGO:0071698.6ERBB3, ERBB2, NTF3
6peripheral nervous system developmentGO:0074228.2ERBB3, ERBB2, NTF3, PMP22

Molecular functions related to Charcot-Marie-Tooth Disease Type 1a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane signaling receptor activityGO:0048889.1ERBB3, ERBB2
2growth factor bindingGO:0198389.0ERBB3, ERBB2
3protein tyrosine kinase activityGO:0047138.8ERBB3, ERBB2

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

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  • Antibodies
  • Proteins
  • Lysates

Sources for Charcot-Marie-Tooth Disease Type 1a

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet