MCID: CHR137
MIFTS: 19

Charcot-Marie-Tooth Disease Type 2b1 malady

Neuronal category

Summaries for Charcot-Marie-Tooth Disease Type 2b1

Sources:
47OMIM, 33MalaCards
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MalaCards: Charcot-Marie-Tooth Disease Type 2b1, also known as charcot-marie-tooth disease, type 2b1, is related to charcot-marie-tooth neuropathy type 2b1. An important gene associated with Charcot-Marie-Tooth Disease Type 2b1 is LMNA (lamin A/C).

Description from OMIM:47 605588

Aliases & Classifications for Charcot-Marie-Tooth Disease Type 2b1

Sources:
43NIH Rare Diseases, 49Orphanet, 22GTR, 47OMIM, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
charcot-marie-tooth disease type 2b1:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

charcot-marie-tooth disease type 2b1 43 49
charcot-marie-tooth disease, type 2b1 47 61
charcot marie tooth disease type 2b1 43 22
autosomal recessive charcot-marie-tooth disease type 2b1 49
charcot-marie-tooth disease, neuronal, type 2b1 43
charcot-marie-tooth disease, axonal, type 2b1 43
autosomal recessive axonal cmt4c1 49
ar-cmt2b1 49
cmt 2b1 43


External Ids:

OMIM47 605588
MESH via Orphanet36 C537990
ICD10 via Orphanet26 G60.0
UMLS via Orphanet62 C1854154

Related Diseases for Charcot-Marie-Tooth Disease Type 2b1

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 2b1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth neuropathy type 2b110.5

Clinical Features for Charcot-Marie-Tooth Disease Type 2b1

Sources:
47OMIM
See all sources

Clinical features from OMIM:

605588

Clinical synopsis from OMIM:

605588

Drugs & Therapeutics for Charcot-Marie-Tooth Disease Type 2b1

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

Approved drugs:

Search CenterWatch for Charcot-Marie-Tooth Disease Type 2b1

Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Disease Type 2b1

Search NIH Clinical Center for Charcot-Marie-Tooth Disease Type 2b1

Search CenterWatch for Charcot-Marie-Tooth Disease Type 2b1

Genetic Tests for Charcot-Marie-Tooth Disease Type 2b1

Sources:
22GTR
See all sources

Genetic tests related to Charcot-Marie-Tooth Disease Type 2b1:

id Genetic test Affiliating Genes
1 Charcot-marie-tooth Disease Type 2b122

Anatomical Context for Charcot-Marie-Tooth Disease Type 2b1

Animal Models for Charcot-Marie-Tooth Disease Type 2b1 or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Charcot-Marie-Tooth Disease Type 2b1

Genetic Variations for Charcot-Marie-Tooth Disease Type 2b1

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Charcot-Marie-Tooth Disease Type 2b1:

63
id Symbol AA change Variation SNP ID
1LMNAp.Arg298CysVAR_017661

Expression for genes affiliated with Charcot-Marie-Tooth Disease Type 2b1

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Charcot-Marie-Tooth Disease Type 2b1

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease Type 2b1.

Pathways for genes affiliated with Charcot-Marie-Tooth Disease Type 2b1

Compounds for genes affiliated with Charcot-Marie-Tooth Disease Type 2b1

GO Terms for genes affiliated with Charcot-Marie-Tooth Disease Type 2b1

Products for genes affiliated with Charcot-Marie-Tooth Disease Type 2b1

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Disease Type 2b1

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