MCID: CHR136
MIFTS: 29

Charcot-Marie-Tooth Disease Type 2b malady

Neuronal diseases category

Summaries for Charcot-Marie-Tooth Disease Type 2b

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Sources:
42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Charcot-marie-tooth disease type 2b (cmt2b) affects the peripheral nerves, the nerves running from outside the brain and spine. common signs and symptoms include slowly progressive weakness and numbness in the feet, lower leg muscles, hands, and forearms. this type of cmt is also associated with the formation of ulcers in the hands and feet. symptoms may start in childhood to early adulthood, although later onset (>50 years) has also been described. symptoms of cmt2b vary but tend to be similar to that of cmt type 1. cmt2b is caused by changes in the rab7a gene. it is inherited in an autosomal dominant fashion. last updated: 9/9/2013

MalaCards: Charcot-Marie-Tooth Disease Type 2b, also known as charcot-marie-tooth disease, axonal, type 2b, is related to charcot-marie-tooth disease and tooth disease. An important gene associated with Charcot-Marie-Tooth Disease Type 2b is CMT2B (Charcot-Marie-Tooth neuropathy 2B). Affiliated tissues include brain.

Description from OMIM:46 600882

Aliases & Classifications for Charcot-Marie-Tooth Disease Type 2b

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Sources:
42NIH Rare Diseases, 22GTR, 60UMLS, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
autosomal dominant charcot-marie-tooth disease type 2b:
Inheritance: Autosomal dominant; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

charcot-marie-tooth disease type 2b 42
charcot-marie-tooth disease, axonal, type 2b 42 60
charcot marie tooth disease type 2b 42 22
autosomal dominant charcot-marie-tooth disease type 2b 48
charcot-marie-tooth disease, neuronal, type 2b 42
hereditary motor and sensory neuropathy 2 b 42
charcot-marie-tooth disease, type 2b 46
cmt 2b 42
cmt2b 48


External Ids:

OMIM46 600882
ICD10 via Orphanet26 G60.0

Related Diseases for Charcot-Marie-Tooth Disease Type 2b

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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 2b via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease31.0RAB7A
2tooth disease10.7
3hereditary sensory neuropathy10.6
4neuropathy10.6
5charcot-marie-tooth hereditary neuropathy10.6
6charcot-marie-tooth neuropathy type 2b10.5
7charcot-marie-tooth disease type 110.4
8autonomic neuropathy10.4
9autosomal dominant disease10.4
10chromosomal disease10.4
11charcot-marie-tooth neuropathy type 110.4
12dnm2-related intermediate charcot-marie-tooth neuropathy10.4
13charcot-marie-tooth disease type 210.0
14charcot-marie-tooth disease, type 2a110.0
15charcot-marie-tooth disease, type 2a210.0

Graphical network of diseases related to Charcot-Marie-Tooth Disease Type 2b:



Diseases related to charcot-marie-tooth disease type 2b

Clinical Features for Charcot-Marie-Tooth Disease Type 2b

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Sources:
46OMIM
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Clinical features from OMIM:

600882

Clinical synopsis from OMIM:

600882

Drugs & Therapeutics for Charcot-Marie-Tooth Disease Type 2b

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

Search CenterWatch for Charcot-Marie-Tooth Disease Type 2b

Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Disease Type 2b

Search NIH Clinical Center for Charcot-Marie-Tooth Disease Type 2b

Search CenterWatch for Charcot-Marie-Tooth Disease Type 2b

Genetic Tests for Charcot-Marie-Tooth Disease Type 2b

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22GTR
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Genetic tests related to Charcot-Marie-Tooth Disease Type 2b:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 2b22

Anatomical Context for Charcot-Marie-Tooth Disease Type 2b

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Sources:
32MalaCards
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MalaCards organs/tissues related to Charcot-Marie-Tooth Disease Type 2b:

32
Brain

Animal Models for Charcot-Marie-Tooth Disease Type 2b or affiliated genes

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Publications for Charcot-Marie-Tooth Disease Type 2b

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Genetic Variations for Charcot-Marie-Tooth Disease Type 2b

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Charcot-Marie-Tooth Disease Type 2b:

62
id Symbol AA change Variation ID SNP ID
1RAB7Ap.Leu129PheVAR_018722rs121909078
2RAB7Ap.Val162MetVAR_018723rs121909079
3RAB7Ap.Lys157AsnVAR_037887rs121909081
4RAB7Ap.Asn161ThrVAR_037888rs121909080

Expression for genes affiliated with Charcot-Marie-Tooth Disease Type 2b

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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 2b

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease Type 2b.

Pathways for genes affiliated with Charcot-Marie-Tooth Disease Type 2b

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Compounds for genes affiliated with Charcot-Marie-Tooth Disease Type 2b

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GO Terms for genes affiliated with Charcot-Marie-Tooth Disease Type 2b

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Products for genes affiliated with Charcot-Marie-Tooth Disease Type 2b

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Disease Type 2b

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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