MCID: CHR129
MIFTS: 41

Charcot-Marie-Tooth Disease Type 1a malady

Neuronal, Fetal categories

Summaries for Charcot-Marie-Tooth Disease Type 1a

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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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 tooth disease and charcot-marie-tooth neuropathy type 1. 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:47 118220

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

Sources:
43NIH Rare Diseases, 49Orphanet, 22GTR, 47OMIM, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


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 61
microduplication 17p12 49
hmsn 1a 43
cmt 1a 43
cmt1a 49


External Ids:

OMIM47 118220
ICD10 via Orphanet26 G60.0
SNOMED-CT via Orphanet58 40632002
UMLS via Orphanet62 C0270911

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

Sources:
17GeneCards, 18GeneDecks
See all sources

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 4 charcot-marie-tooth disease type 3
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 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 4b2 with early-onset glaucoma
charcot-marie-tooth disease type 4e charcot-marie-tooth disease with ptosis and parkinsonism
charcot-marie-tooth disease with pyramidal features, autosomal dominant 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 charcot-marie-tooth neuropathy type 2n
charcot-marie-tooth neuropathy type 2d 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

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

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1tooth disease32.3PMP22, MPZ
2charcot-marie-tooth neuropathy type 130.4MPZ, PMP22
3charcot-marie-tooth disease type 1e30.2PMP22, CMT1A
4neuropathy, recurrent, with pressure palsies30.2PMP22, CMT1A
5charcot-marie-tooth neuropathy type 1a30.1MPZ, PMP22
6charcot-marie-tooth disease type 329.9PMP22, MPZ
7hereditary neuropathies29.9PMP22, MPZ
8charcot-marie-tooth disease type 111.0
9charcot-marie-tooth hereditary neuropathy10.9
10autosomal dominant disease10.8
11charcot-marie-tooth disease type 210.6
12chromosome 17p duplication10.6
13inherited peripheral neuropathy10.6
14corneal disease10.5
15mu chain disease10.5
16autosomal recessive disease10.5
17spinal cord disease10.5
18trigeminal nerve disease10.5
19char syndrome10.5
20pitt-hopkins syndrome10.5
21chronic inflammatory demyelinating polyneuropathy10.5
22familial deafness10.5
23left ventricular noncompaction10.5
24small fiber neuropathy10.5
25charcot-marie-tooth disease type 1b10.2
26muscular atrophy10.1
27spinal muscular atrophy10.1
28hereditary neuropathy with liability to pressure palsies10.0PMP22
29polyradiculoneuropathy10.0PMP22
30wallerian degeneration10.0MPZ
31pelizaeus-merzbacher disease10.0MPZ
32multiple sclerosis10.0MPZ
33motor peripheral neuropathy10.0MPZ, PMP22
34charcot-marie-tooth disease10.0MPZ, PMP22
35charcot-marie-tooth disease type 4e10.0PMP22, MPZ
36chronic inflammatory demyelinating polyradiculoneuropathy10.0MPZ, PMP22
37brachial plexus neuropathy10.0PMP22, MPZ
38polyneuropathy10.0PMP22, MPZ
39encephalomyelitis10.0MPZ, NTF3
40guillain-barre syndrome10.0MPZ, PMP22
41diabetic neuropathy10.0NTF3, MPZ, PMP22
42sensory peripheral neuropathy10.0NTF3, MPZ, PMP22
43neuropathy10.0PMP22, NTF3, MPZ
44neurilemmoma10.0PMP22, NTF3, MPZ
45adenoid cystic carcinoma10.0ERBB3, ERBB2
46papillary carcinoma10.0ERBB3, ERBB2
47medulloblastoma10.0NTF3, ERBB3, ERBB2
48poems syndrome9.9
49n syndrome9.9
50arthropathy9.9

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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

118220

Clinical synopsis from OMIM:

118220

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

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

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

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

37
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

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

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Charcot-Marie-Tooth Disease Type 1a:

63 (show all 11)
id Symbol AA change Variation 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

Sources:
1BioGPS, 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

Sources:
12EMD Millipore, 52QIAGEN, 53R&D Systems, 56SinoBiological, 54Reactome, 38NCBI BioSystems Database, 60Tocris Bioscience, 30KEGG
See all sources

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

Sources:
45Novoseek, 60Tocris Bioscience, 50PharmGKB, 11DrugBank, 2BitterDB, 29IUPHAR, 24HMDB
See all sources

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

(show all 30)
idCompoundScoreTop Affiliating Genes
1dihydroprogesterone459.9MPZ, PMP22
2jnj 28871063 hydrochloride609.5ERBB3, ERBB2
3ag 490609.5ERBB3, ERBB2
4ag 1478 hydrochloride609.5ERBB3, ERBB2
5iressa609.5ERBB3, ERBB2
6pertuzumab45 50 1111.5ERBB2, ERBB3
7o-tyrosine459.5ERBB2, ERBB3
8hrgbeta1459.5ERBB3, ERBB2
9ganglioside459.4PMP22, MPZ, NTF3
10lapatinib45 50 1111.4ERBB2, ERBB3
11cetuximab45 50 1111.4ERBB3, ERBB2
12erlotinib45 50 1111.2ERBB3, ERBB2
13chloramphenicol45 2 1111.1NTF3, MYH6, ERBB2
14carbachol45 29 1110.9NTF3, ERBB3, ERBB2
15aspartate458.9ERBB2, NTF3, MPZ, PMP22
16agar458.9NTF3, ERBB3, ERBB2
17acetylcholine45 50 29 11 2412.8NTF3, ERBB3, ERBB2
18trastuzumab45 50 1110.8ERBB2, ERBB3
19rapamycin458.8ERBB2, ERBB3, NTF3
20ly294002458.8NTF3, ERBB3, ERBB2
21wortmannin458.8ERBB2, ERBB3, NTF3
22forskolin45 50 1110.7PMP22, NTF3, ERBB3
23paraffin458.7ERBB2, ERBB3, NTF3
24heparin45 29 11 2411.6ERBB2, ERBB3, NTF3
25genistein45 29 60 2 11 2413.5ERBB2, ERBB3, NTF3
26arginine458.3PMP22, MPZ, NTF3, MYH6, ERBB2
27estrogen458.2ERBB2, ERBB3, MYH6, NTF3
28progesterone45 60 29 11 2412.1ERBB2, ERBB3, NTF3, MPZ, PMP22
29steroid458.1PMP22, MPZ, NTF3, ERBB3, ERBB2
30serine457.9PMP22, MPZ, MYH6, ERBB3, ERBB2

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

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:0432359.1ERBB2, 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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Disease Type 1a

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet