MCID: CHR289
MIFTS: 30

Charcot-Marie-Tooth Neuropathy Type 1a malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases, Fetal diseases, Ear diseases categories

Summaries for Charcot-Marie-Tooth Neuropathy Type 1a

About this section
Sources:
34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Charcot-Marie-Tooth Neuropathy Type 1a, also known as charcot-marie-tooth neuropathy, type 1a, is related to neuropathy and duchenne muscular dystrophy. An important gene associated with Charcot-Marie-Tooth Neuropathy Type 1a is PMP22 (peripheral myelin protein 22), and among its related pathways is Neural Crest Differentiation. The compounds dihydroprogesterone and ganglioside have been mentioned in the context of this disorder.

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

About this section
Sources:
21GeneTests, 46Novoseek, 63UMLS
See all sources

Classifications:



Aliases & Descriptions:

charcot-marie-tooth neuropathy type 1a 21
charcot-marie-tooth neuropathy, type 1a 46
charcot-marie-tooth disease, type ia 63


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

About this section
Sources:
18GeneCards, 19GeneDecks
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 Neuropathy Type 1a via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy31.5PMP22, MPZ
2duchenne muscular dystrophy10.5
3muscular dystrophy10.5
4hereditary neuropathy with liability to pressure palsies10.1PMP22
5polyradiculoneuropathy10.1PMP22
6pelizaeus-merzbacher disease10.0MPZ
7neuropathy, recurrent, with pressure palsies10.0CMT1A, PMP22
8charcot-marie-tooth disease type 1e10.0CMT1A, PMP22
9charcot-marie-tooth disease type 1a10.0PMP22, CMT1A
10neuropathy, inflammatory demyelinating10.0PMP22, CMT1A
11charcot-marie-tooth neuropathy type 110.0PMP22, MPZ
12charcot-marie-tooth disease10.0MPZ, PMP22
13motor peripheral neuropathy10.0MPZ, PMP22
14charcot-marie-tooth disease type 4e10.0MPZ, PMP22
15charcot-marie-tooth disease type 310.0MPZ, PMP22
16inherited peripheral neuropathy10.0PMP22, MPZ
17chronic inflammatory demyelinating polyradiculoneuropathy10.0PMP22, MPZ
18brachial plexus neuropathy10.0PMP22, MPZ
19tooth disease10.0MPZ, PMP22
20hereditary neuropathies10.0MPZ, PMP22
21guillain-barre syndrome10.0MPZ, PMP22
22diabetic neuropathy10.0PMP22, MPZ
23neuritis10.0MPZ, PMP22
24sensory peripheral neuropathy10.0PMP22, MPZ
25myopathy10.0PMP22, MPZ
26polyneuropathy9.9MPZ, PMP22
27neurilemmoma9.9MPZ, PMP22

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



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

Symptoms for Charcot-Marie-Tooth Neuropathy Type 1a

About this section

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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

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

Drug clinical trials:

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

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

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

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

About this section
Sources:
21GeneTests
See all sources

Genetic tests related to Charcot-Marie-Tooth Neuropathy Type 1a:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy Type 1a21 PMP22

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

About this section

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

About this section

Publications for Charcot-Marie-Tooth Neuropathy Type 1a

About this section
Sources:
53PubMed
See all sources

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

(show all 12)
idTitleAuthorsYear
1
Influence of comorbidities on the phenotype of patients affected by Charcot-Marie-Tooth neuropathy type 1A. (23891256)
2013
2
Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy. (17880576)
2007
3
Evidence for macrophage-mediated myelin disruption in an animal model for Charcot-Marie-Tooth neuropathy type 1A. (16041800)
2005
4
Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22. (10489052)
1999
5
Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases. (9626246)
1998
6
Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene. (9324088)
1997
7
Charcot-Marie-Tooth neuropathy type 1A with both duplication and non-duplication. (8099303)
1993
8
Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A. (1461382)
1992
9
Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. (1552545)
1992
10
Charcot-Marie-Tooth neuropathy type 1A mutation: apparent crossovers with D17S122 are due to a duplication. (1442887)
1992
11
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. (1822787)
1991
12
Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. (2707366)
1989

Variations for Charcot-Marie-Tooth Neuropathy Type 1a

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Charcot-Marie-Tooth Neuropathy Type 1a:

1
id Gene Name Type Significance SNP ID Assembly Location
1PMP22NM_000304.3(PMP22): c.47T> C (p.Leu16Pro)single nucleotide variantPathogenicrs104894617GRCh37Chr 17, 15163998: 15163998
2PMP22NM_000304.3(PMP22): c.236C> G (p.Ser79Cys)single nucleotide variantPathogenicrs104894618GRCh37Chr 17, 15142871: 15142871
3PMP22NM_000304.3(PMP22): c.353C> T (p.Thr118Met)single nucleotide variantPathogenicrs104894619GRCh37Chr 17, 15134364: 15134364
4PMP22NM_000304.3(PMP22): c.65C> T (p.Ser22Phe)single nucleotide variantPathogenicrs104894625GRCh37Chr 17, 15163980: 15163980

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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 1a

Search GEO for disease gene expression data for Charcot-Marie-Tooth Neuropathy Type 1a.

Pathways for genes affiliated with Charcot-Marie-Tooth Neuropathy Type 1a

About this section
Sources:
51PathCards, 39NCBI BioSystems Database
See all sources

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0MPZ, PMP22

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

About this section
Sources:
46Novoseek, 30IUPHAR, 62Tocris Bioscience, 25HMDB, 12DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1dihydroprogesterone469.1MPZ, PMP22
2ganglioside469.0MPZ, PMP22
3progesterone46 30 62 25 1213.0MPZ, PMP22
4dihydrotestosterone46 30 25 1211.9PMP22, MPZ
5aspartate468.7MPZ, PMP22

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

About this section
Sources:
17Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1synaptic transmissionGO:0072689.0MPZ, PMP22

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Neuropathy Type 1a

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet