MCID: CHR136
MIFTS: 22

Charcot-Marie-Tooth Disease Type 2b malady

Neuronal category

Summaries for Charcot-Marie-Tooth Disease Type 2b

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 tooth disease and charcot-marie-tooth hereditary neuropathy. 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:47 600882

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

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

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43
charcot-marie-tooth disease, axonal, type 2b 43 61
charcot marie tooth disease type 2b 43 22
autosomal dominant charcot-marie-tooth disease type 2b 49
charcot-marie-tooth disease, neuronal, type 2b 43
hereditary motor and sensory neuropathy 2 b 43
charcot-marie-tooth disease, type 2b 47
cmt 2b 43
cmt2b 49


External Ids:

OMIM47 600882
ICD10 via Orphanet26 G60.0

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

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1tooth disease10.7
2charcot-marie-tooth hereditary neuropathy10.6
3charcot-marie-tooth neuropathy type 2b10.5
4charcot-marie-tooth disease type 310.5
5autonomic neuropathy10.5
6autosomal dominant disease10.5
7dnm2-related intermediate charcot-marie-tooth neuropathy10.5
8charcot-marie-tooth disease type 210.0
9charcot-marie-tooth disease, type 2a110.0
10charcot-marie-tooth disease, type 2a210.0
11charcot-marie-tooth disease10.0RAB7A

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

Sources:
47OMIM
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Clinical features from OMIM:

600882

Clinical synopsis from OMIM:

600882

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

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

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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Charcot-Marie-Tooth Disease Type 2b:

33
Brain

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

Sources:
28inGenious Targeting Laboratory
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Publications for Charcot-Marie-Tooth Disease Type 2b

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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Charcot-Marie-Tooth Disease Type 2b:

63
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Disease Type 2b

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