MCID: CHR129
MIFTS: 51

Charcot-Marie-Tooth Disease Type 1a malady

Neuronal diseases, Fetal diseases categories

Summaries for Charcot-Marie-Tooth Disease Type 1a

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Sources:
42NIH Rare Diseases, 46OMIM, 32MalaCards
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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: 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 Development MAG-dependent inhibition of neurite outgrowth and Alzheimers Disease Pathway. The compounds dihydroprogesterone and jnj 28871063 hydrochloride have been mentioned in the context of this disorder. Related mouse phenotypes are nervous 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, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
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 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 60
microduplication 17p12 48
hmsn 1a 42
cmt 1a 42
cmt1a 48


External Ids:

OMIM46 118220
ICD10 via Orphanet26 G60.0
SNOMED-CT via Orphanet57 40632002
UMLS via Orphanet61 C0270911

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

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Charcot-Marie-Tooth Disease Type 3 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 4 Charcot-Marie-Tooth Disease
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 61)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease32.2MPZ, PMP22
2tooth disease32.2PMP22, MPZ
3neuropathy31.5PMP22, NTF3, MPZ
4hereditary neuropathy with liability to pressure palsies31.3PMP22
5polyneuropathy30.6PMP22, MPZ
6charcot-marie-tooth disease type 1e30.2PMP22, CMT1A
7neuropathy, recurrent, with pressure palsies30.2PMP22, CMT1A
8charcot-marie-tooth neuropathy type 130.1MPZ, PMP22
9charcot-marie-tooth neuropathy type 1a30.1MPZ, PMP22
10charcot-marie-tooth disease type 329.8PMP22, MPZ
11charcot-marie-tooth hereditary neuropathy10.9
12chromosomal disease10.8
13peripheral neuropathy10.8
14autosomal dominant disease10.7
15charcot-marie-tooth disease type 210.6
16corneal disease10.4
17autosomal recessive disease10.4
18central nervous system disease10.4
19chronic polyneuropathy10.4
20demyelinating polyneuropathy10.4
21facial nerve disease10.4
22heavy chain disease10.4
23hereditary sensory neuropathy10.4
24myasthenia gravis10.4
25nervous system disease10.4
26neuromuscular disease10.4
27spinal cord disease10.4
28trigeminal nerve disease10.4
29neurologic diseases10.4
30charcot-marie-tooth neuropathy type 210.4
31hereditary sensory neuropathy type ia10.4
32pitt-hopkins syndrome10.4
33charcot-marie-tooth disease type 1b10.2
34muscular atrophy10.1
35spinal muscular atrophy10.1
36charcot-marie-tooth disease type 110.1
37diabetes mellitus10.1
38inherited peripheral neuropathy10.1
39polyradiculoneuropathy10.0PMP22
40wallerian degeneration10.0MPZ
41pelizaeus-merzbacher disease10.0MPZ
42multiple sclerosis10.0MPZ
43motor peripheral neuropathy10.0MPZ, PMP22
44charcot-marie-tooth disease type 4e10.0PMP22, MPZ
45chronic inflammatory demyelinating polyradiculoneuropathy10.0MPZ, PMP22
46brachial plexus neuropathy10.0PMP22, MPZ
47hereditary neuropathies10.0PMP22, MPZ
48encephalomyelitis10.0MPZ, NTF3
49guillain-barre syndrome10.0MPZ, PMP22
50diabetic neuropathy10.0NTF3, MPZ, PMP22

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease Type 1a:



Diseases related to charcot-marie-tooth disease type 1a

Clinical Features for Charcot-Marie-Tooth Disease Type 1a

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Sources:
46OMIM
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Clinical features from OMIM:

118220

Clinical synopsis from OMIM:

118220

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

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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

Drug clinical trials:

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

Search NIH Clinical Center for Charcot-Marie-Tooth Disease Type 1a

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

Genetic Tests for Charcot-Marie-Tooth Disease Type 1a

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Sources:
22GTR
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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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Animal Models for Charcot-Marie-Tooth Disease Type 1a or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease Type 1a:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.7ERBB2, ERBB3, NTF3, MPZ, PMP22
2MP:00053697.5PMP22, NTF3, MYH6, ERBB3, ERBB2
3MP:00053867.1ERBB2, ERBB3, MYH6, NTF3, MPZ, PMP22
4MP:00107686.8PMP22, MPZ, NTF3, MYH6, ERBB3, ERBB2

Publications for Charcot-Marie-Tooth Disease Type 1a

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Genetic Variations for Charcot-Marie-Tooth Disease Type 1a

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Charcot-Marie-Tooth Disease Type 1a:

62 (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

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

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
12EMD Millipore, 51QIAGEN, 52R&D Systems, 55SinoBiological, 53Reactome, 37NCBI BioSystems Database, 59Tocris Bioscience, 29KEGG
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Compounds for genes affiliated with Charcot-Marie-Tooth Disease Type 1a

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Sources:
44Novoseek, 59Tocris Bioscience, 49PharmGKB, 11DrugBank, 2BitterDB, 28IUPHAR, 24HMDB
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Compounds related to Charcot-Marie-Tooth Disease Type 1a according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1dihydroprogesterone449.9MPZ, PMP22
2jnj 28871063 hydrochloride599.5ERBB3, ERBB2
3ag 490599.5ERBB3, ERBB2
4ag 1478 hydrochloride599.5ERBB3, ERBB2
5iressa599.5ERBB3, ERBB2
6pertuzumab44 49 1111.5ERBB2, ERBB3
7o-tyrosine449.5ERBB2, ERBB3
8hrgbeta1449.5ERBB3, ERBB2
9ganglioside449.4PMP22, MPZ, NTF3
10lapatinib44 49 1111.4ERBB2, ERBB3
11cetuximab44 49 1111.4ERBB3, ERBB2
12erlotinib44 49 1111.2ERBB3, ERBB2
13chloramphenicol44 2 1111.1NTF3, MYH6, ERBB2
14carbachol44 28 1110.9NTF3, ERBB3, ERBB2
15aspartate448.9ERBB2, NTF3, MPZ, PMP22
16agar448.9NTF3, ERBB3, ERBB2
17acetylcholine44 49 28 11 2412.8NTF3, ERBB3, ERBB2
18trastuzumab44 49 1110.8ERBB2, ERBB3
19rapamycin448.8ERBB2, ERBB3, NTF3
20ly294002448.8NTF3, ERBB3, ERBB2
21wortmannin448.8ERBB2, ERBB3, NTF3
22forskolin44 49 1110.7PMP22, NTF3, ERBB3
23paraffin448.7ERBB2, ERBB3, NTF3
24heparin44 28 11 2411.6ERBB2, ERBB3, NTF3
25genistein44 28 59 2 11 2413.5ERBB2, ERBB3, NTF3
26arginine448.3PMP22, MPZ, NTF3, MYH6, ERBB2
27estrogen448.2ERBB2, ERBB3, MYH6, NTF3
28progesterone44 59 28 11 2412.1ERBB2, ERBB3, NTF3, MPZ, PMP22
29steroid448.1PMP22, MPZ, NTF3, ERBB3, ERBB2
30serine447.9PMP22, MPZ, MYH6, ERBB3, ERBB2

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

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Sources:
16Gene Ontology
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Cellular components related to Charcot-Marie-Tooth Disease Type 1a according to GeneCards/GeneDecks:

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

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

idNameGO IDScoreTop Affiliating Genes
1myelinationGO:0425529.1ERBB2, NTF3
2wound healingGO:0420609.1ERBB2, ERBB3
3phosphatidylinositol 3-kinase cascadeGO:0140659.0ERBB2, ERBB3
4transmembrane receptor protein tyrosine kinase signaling pathwayGO:0071698.6NTF3, ERBB3, ERBB2
5peripheral nervous system developmentGO:0074228.3ERBB2, ERBB3, NTF3, PMP22

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

idNameGO IDScoreTop Affiliating Genes
1growth factor bindingGO:0198389.1ERBB2, ERBB3

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet