MCID: CHR137
MIFTS: 28

Charcot-Marie-Tooth Disease Type 2b1 malady

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

Summaries for Charcot-Marie-Tooth Disease Type 2b1

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Sources:
48OMIM, 34MalaCards
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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:48 605588

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

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Sources:
44NIH Rare Diseases, 50Orphanet, 23GTR, 48OMIM, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
charcot-marie-tooth disease type 2b1:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

charcot-marie-tooth disease type 2b1 44 50
charcot-marie-tooth disease, type 2b1 48 63
charcot marie tooth disease type 2b1 44 23
autosomal recessive charcot-marie-tooth disease type 2b1 50
charcot-marie-tooth disease, neuronal, type 2b1 44
charcot-marie-tooth disease, axonal, type 2b1 44
autosomal recessive axonal cmt4c1 50
ar-cmt2b1 50
cmt 2b1 44


External Ids:

OMIM48 605588
MESH via Orphanet37 C537990
ICD10 via Orphanet27 G60.0
UMLS via Orphanet64 C1854154

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

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Sources:
18GeneCards, 19GeneDecks
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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 Disease Type 2b1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

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

Symptoms for Charcot-Marie-Tooth Disease Type 2b1

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

605588

Clinical features from OMIM:

605588

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

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Sources:
23GTR
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Genetic tests related to Charcot-Marie-Tooth Disease Type 2b1:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 2b123

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

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

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Publications for Charcot-Marie-Tooth Disease Type 2b1

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Variations for Charcot-Marie-Tooth Disease Type 2b1

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease Type 2b1:

65
id Symbol AA change Variation ID SNP ID
1LMNAp.Arg298CysVAR_017661

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

1
id Gene Name Type Significance SNP ID Assembly Location
1LMNANM_005572.3(LMNA): c.892C> T (p.Arg298Cys)single nucleotide variantPathogenicrs59885338GRCh37Chr 1, 156105059: 156105059

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

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Disease Type 2b1

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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