MCID: CHR129
MIFTS: 64

Charcot-Marie-Tooth Disease Type 1a malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Muscle diseases, Ear diseases categories
Download this MalaCard

Summaries for Charcot-Marie-Tooth Disease Type 1a

About this section
Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
NIH Rare Diseases:43 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: 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. 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 iressa 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:47 118220

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

About this section
Sources:
43NIH Rare Diseases, 49Orphanet, 22GTR, 47OMIM, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

49
charcot-marie-tooth disease type 1a:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Childhood


Aliases & Descriptions:

charcot-marie-tooth disease type 1a 43 49
charcot marie tooth disease type 1a 43 22
charcot-marie-tooth disease, demyelinating, type 1a 43
hereditary motor and sensory neuropathy 1a 43
charcot-marie-tooth disease, type 1a 47
charcot-marie-tooth disease, type ia 62
microduplication 17p12 49
hmsn 1a 43
cmt 1a 43
cmt1a 49


External Ids:

OMIM47 118220
ICD10 via Orphanet26 G60.0
SNOMED-CT via Orphanet59 40632002
UMLS via Orphanet63 C0270911

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease Type 1 Charcot-Marie-Tooth Disease Type 2
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 1e 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 2e 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 Disease Type 4e
Charcot-Marie-Tooth Neuropathy X Intermediate Charcot-Marie-Tooth Neuropathy
Charcot-Marie-Tooth Neuropathy Multi-Gene Panels Charcot-Marie-Tooth Neuropathy Type 1e
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 4e
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 top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease32.4MPZ, PMP22
2tooth disease32.4PMP22, MPZ
3neuropathy31.6MPZ, PMP22, NTF3
4hereditary neuropathy with liability to pressure palsies31.5PMP22
5hereditary neuropathies31.4MPZ, PMP22
6inherited peripheral neuropathy30.8PMP22, MPZ
7polyneuropathy30.7PMP22, MPZ
8charcot-marie-tooth neuropathy type 130.3MPZ, PMP22
9charcot-marie-tooth neuropathy type 1a30.3PMP22, MPZ
10neuropathy, inflammatory demyelinating30.1PMP22, CMT1A
11neuropathy, recurrent, with pressure palsies30.0CMT1A, PMP22
12charcot-marie-tooth disease type 1e30.0PMP22, CMT1A
13charcot-marie-tooth disease type 330.0PMP22, MPZ
14hereditary neuropathy with liability to pressure palsy10.9
15peripheral neuropathy10.8
16blindness10.8
17demyelinating polyneuropathy10.5
18myasthenia gravis10.5
19pitt-hopkins syndrome10.5
20chronic inflammatory demyelinating polyneuropathy10.5
21small fiber neuropathy10.5
22charcot-marie-tooth disease type 1b10.2
23muscular atrophy10.2
24spinal muscular atrophy10.2
25diabetes mellitus10.1
26pelizaeus-merzbacher disease10.1MPZ
27polyradiculoneuropathy10.1PMP22
28wallerian degeneration10.1MPZ
29motor peripheral neuropathy10.1MPZ, PMP22
30charcot-marie-tooth disease type 4e10.1MPZ, PMP22
31chronic inflammatory demyelinating polyradiculoneuropathy10.1MPZ, PMP22
32brachial plexus neuropathy10.1MPZ, PMP22
33guillain-barre syndrome10.0MPZ, PMP22
34neuritis10.0MPZ, PMP22
35diabetic neuropathy10.0NTF3, MPZ, PMP22
36sensory peripheral neuropathy10.0NTF3, PMP22, MPZ
37neurilemmoma10.0NTF3, MPZ, PMP22
38myopathy10.0PMP22, MYH6, MPZ
39adenoid cystic carcinoma10.0ERBB2, ERBB3
40papillary carcinoma10.0ERBB3, ERBB2
41transitional cell carcinoma10.0ERBB2, ERBB3
42charcot-marie-tooth disease type 110.0
43poems syndrome10.0
44arthropathy10.0
45type 2 diabetes mellitus10.0
46charcot-marie-tooth disease, type 2a110.0
47charcot-marie-tooth disease, type 2a210.0
48subacute inflammatory demyelinating polyneuropathy10.0
49encephalomyelitis10.0MPZ, NTF3
50medulloblastoma9.9NTF3, ERBB2, 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

About this section
Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

118220

Clinical features from OMIM:

118220

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

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

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

About this section
Sources:
22GTR
See all sources

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

About this section
Sources:
33MalaCards
See all sources

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

33
Testes, Spinal cord, Skeletal muscle

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

About this section
Sources:
37MGI
See all sources

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

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.5PMP22, MPZ, NTF3, ERBB2
2MP:00053697.6ERBB2, NTF3, MYH6, PMP22, ERBB3
3MP:00036317.5ERBB2, NTF3, MPZ, ERBB3, PMP22
4MP:00053867.2ERBB3, MPZ, MYH6, NTF3, ERBB2, PMP22
5MP:00053767.2ERBB3, ERBB2, NTF3, MYH6, MPZ
6MP:00107687.1PMP22, ERBB3, ERBB2, NTF3, MYH6, MPZ

Publications for Charcot-Marie-Tooth Disease Type 1a

About this section
Sources:
52PubMed
See all sources

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

(show top 50)    (show all 141)
idTitleAuthorsYear
1
Pain and small fiber function in Charcot Marie Tooth disease type 1A. (24395492)
2014
2
Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A. (23965405)
2013
3
Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. (22378661)
2012
4
Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients. (22996176)
2012
5
Electrophysiological characterization of Charcot-Marie-Tooth disease type 1A in Taiwan. (22632984)
2012
6
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. (21393063)
2011
7
Randomized trial of botulinum toxin to prevent pes cavus progression in pediatric Charcot-Marie-Tooth disease type 1A. (20544937)
2010
8
Charcot-Marie-Tooth disease type 1A: is ascorbic acid effective? (19818689)
2009
9
Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial. (19818690)
2009
10
Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A. (18844790)
2008
11
Case of Charcot-Marie-Tooth disease type 1A with increased cerebrospinal fluid proteins and nerve root hypertrophy]. (18616154)
2008
12
Hand involvement in children with Charcot-Marie-Tooth disease type 1A. (18993073)
2008
13
Analysis of the benefits of vitamin cocktails in treating Charcot-Marie-Tooth disease type 1A. (18663735)
2008
14
Charcot-Marie-Tooth disease type 1A associated with acute porphyric neuropathy. (17956430)
2007
15
Women and men are equally disabled by Charcot-Marie-Tooth disease type 1A. (17353481)
2007
16
Overexpression of ErbB2 and ErbB3 receptors in Schwann cells of patients with Charcot-Marie-tooth disease type 1A. (16307437)
2006
17
Charcot-Marie-Tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study. (16788010)
2006
18
Charcot-Marie-Tooth disease type 1A: clinicopathological correlations in 24 patients. (15703022)
2005
19
Charcot-Marie-Tooth disease type 1A with central nervous system involvement in two generations. (15083299)
2004
20
Charcot-Marie-Tooth disease type 1A: a clinical, electrophysiological, pathological, and genetic study. (15239197)
2004
21
Nerve conduction abnormalities in the trembler-j mouse: a model for Charcot-Marie-Tooth disease type 1A? (15363066)
2004
22
Nerve excitability properties in Charcot-Marie-Tooth disease type 1A. (14607794)
2004
23
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
24
Auditory processing in patients with Charcot-Marie-Tooth disease type 1A. (14600466)
2003
25
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
26
Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders. (12082504)
2002
27
Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A. (11331611)
2001
28
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A. (10586272)
1999
29
Charcot-Marie-Tooth disease type 1A presenting as calf hypertrophy and muscle cramps. (9818900)
1998
30
Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study. (9566395)
1998
31
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
32
De novo mutation of Charcot-Marie-Tooth disease type 1A. (9308980)
1997
33
Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A. (8981968)
1997
34
Pressure palsy as the initial presentation in a case of late-onset Charcot-Marie-Tooth disease type 1A. (9240501)
1997
35
Normalized Southern Hybridization to Enhance Testing for Charcot-Marie-Tooth Disease, Type 1A. (10330199)
1996
36
Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion. (8682501)
1996
37
Severe vincristine neuropathy in Charcot-Marie-Tooth disease type 1A. (8608515)
1996
38
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
39
Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin. (8644705)
1996
40
Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A. (8956042)
1996
41
Phenotypic heterogeneity in Japanese Charcot-Marie-Tooth disease type 1A patients with PMP-22 gene duplication]. (8821490)
1995
42
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques. (8532623)
1995
43
Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations. (8615087)
1995
44
Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. (8080259)
1994
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

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
See all sources

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:

1
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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
50PathCards, 38NCBI BioSystems Database, 61Tocris Bioscience, 30KEGG, 51PharmGKB, 60Thomson Reuters, 57SinoBiological, 54R&D Systems, 53QIAGEN, 55Reactome
See all sources

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

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6PMP22, MPZ
29.1ERBB2, ERBB3
3
Show member pathways
9.1ERBB3, ERBB2
4
Show member pathways
ErbB receptor signaling network38
ErbB signaling pathway38
9.1ERBB2, ERBB3
5
Show member pathways
Development Ligand independent activation of ESR1 and ESR260
9.1ERBB2, ERBB3
69.1ERBB3, ERBB2
79.1ERBB2, ERBB3
89.1ERBB2, ERBB3
9
Show member pathways
9.1ERBB2, ERBB3
109.1ERBB3, ERBB2
11
Show member pathways
8.8ERBB2, NTF3, MYH6
128.7PMP22, ERBB3, ERBB2
13
Show member pathways
8.6ERBB3, ERBB2, MYH6
14
Show member pathways
8.5ERBB2, ERBB3, NTF3
15
Show member pathways
8.5NTF3, ERBB3, ERBB2
16
Show member pathways
8.5ERBB2, ERBB3, NTF3
17
Show member pathways
8.5ERBB3, ERBB2, NTF3
18
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 Receptor38
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
8.5NTF3, 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
8.0MYH6, NTF3, ERBB2, ERBB3

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

About this section
Sources:
45Novoseek, 61Tocris Bioscience, 51PharmGKB, 11DrugBank, 24HMDB, 3BitterDB, 29IUPHAR
See all sources

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

(show all 36)
idCompoundScoreTop Affiliating Genes
1dihydroprogesterone4510.0MPZ, PMP22
2iressa619.5ERBB3, ERBB2
3jnj 28871063 hydrochloride619.5ERBB2, ERBB3
4ag 490619.5ERBB2, ERBB3
5ag 1478 hydrochloride619.5ERBB2, ERBB3
6pertuzumab45 51 1111.5ERBB3, ERBB2
7o-tyrosine459.5ERBB2, ERBB3
8hrgbeta1459.5ERBB2, ERBB3
9lapatinib45 51 1111.5ERBB3, ERBB2
10cetuximab45 51 1111.4ERBB2, ERBB3
11ganglioside459.4PMP22, NTF3, MPZ
12erlotinib45 51 1111.3ERBB3, ERBB2
13trastuzumab45 51 1111.3ERBB3, ERBB2
14ag 1478459.2ERBB2, ERBB3
15gefitinib45 51 1111.2ERBB2, ERBB3
16biotin45 24 1111.2ERBB2, MPZ
17chloramphenicol45 3 51 1112.1ERBB2, NTF3, MYH6
18p002459.1ERBB3, ERBB2
19gemcitabine45 51 1111.0ERBB2, ERBB3
20carbachol45 29 1110.9ERBB2, ERBB3, NTF3
21forskolin45 51 1110.9ERBB3, PMP22, NTF3
22agar458.9NTF3, ERBB2, ERBB3
23aspartate458.8ERBB2, MPZ, PMP22, NTF3
24acetylcholine45 51 29 24 1112.8ERBB3, ERBB2, NTF3
25rapamycin458.8ERBB3, ERBB2, NTF3
26ly294002458.8NTF3, ERBB3, ERBB2
27wortmannin458.8ERBB3, ERBB2, NTF3
28paraffin458.8ERBB2, ERBB3, NTF3
29genistein45 29 61 3 24 1113.7NTF3, ERBB2, ERBB3
30heparin45 29 24 1111.7NTF3, ERBB2, ERBB3
31arginine458.4ERBB2, NTF3, MYH6, MPZ, PMP22
32estrogen458.3MYH6, ERBB3, ERBB2, NTF3
33serine458.1PMP22, MPZ, ERBB2, MYH6, ERBB3
34progesterone45 29 61 24 1112.1ERBB2, ERBB3, NTF3, MPZ, PMP22
35tyrosine458.1MPZ, NTF3, ERBB2, ERBB3
36steroid458.1ERBB2, NTF3, MPZ, PMP22, ERBB3

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

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Disease Type 1a

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet