MCID: CHR137
MIFTS: 27

Charcot-Marie-Tooth Disease Type 2b1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Ear diseases, Fetal diseases, Mental diseases, Metabolic diseases categories
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Summaries for Charcot-Marie-Tooth Disease Type 2b1

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MalaCards based summary: Charcot-Marie-Tooth Disease Type 2b1, is also known as charcot-marie-tooth disease, type 2b1 and has symptoms including An important gene associated with Charcot-Marie-Tooth Disease Type 2b1 is LMNA (lamin A/C).

Description from OMIM:46 605588

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

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Sources:
42NIH Rare Diseases, 48Orphanet, 22GTR, 46OMIM, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Charcot-Marie-Tooth Disease Type 2b1, Aliases & Descriptions:

Name: Charcot-Marie-Tooth Disease Type 2b1 42 48
Charcot-Marie-Tooth Disease, Type 2b1 46 62
Charcot Marie Tooth Disease Type 2b1 42 22
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1 48
Charcot-Marie-Tooth Disease, Neuronal, Type 2b1 42
 
Charcot-Marie-Tooth Disease, Axonal, Type 2b1 42
Autosomal Recessive Axonal Cmt4c1 48
Ar-Cmt2b1 48
Cmt 2b1 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
charcot-marie-tooth disease type 2b1:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

OMIM46 605588
MESH via Orphanet35 C537990
ICD10 via Orphanet26 G60.0
UMLS via Orphanet63 C1854154

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

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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 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 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 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 Neuropathy X
Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Multi-Gene Panels
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 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

Symptoms for Charcot-Marie-Tooth Disease Type 2b1

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Symptoms by clinical synopsis from OMIM:

605588

Clinical features from OMIM:

605588

HPO human phenotypes related to Charcot-Marie-Tooth Disease Type 2b1:

(show all 18)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hyporeflexia HP:0001265
3 areflexia HP:0001284
4 pes cavus HP:0001761
5 distal muscle weakness HP:0002460
6 kyphoscoliosis HP:0002751
7 distal sensory impairment HP:0002936
8 steppage gait HP:0003376
9 axonal degeneration/regeneration HP:0003378
10 decreased number of peripheral myelinated nerve fibers HP:0003380
11 onion bulb formation HP:0003383
12 peripheral axonal atrophy HP:0003384
13 decreased motor nerve conduction velocity HP:0003431
14 upper limb muscle weakness HP:0003484
15 onset HP:0003674
16 distal amyotrophy HP:0003693
17 proximal muscle weakness HP:0003701
18 foot dorsiflexor weakness HP:0009027

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

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Drug clinical trials:

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

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

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

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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 2b122

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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UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease Type 2b1:

64
id Symbol AA change Variation ID SNP ID
1LMNAp.Arg298CysVAR_017661

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

6
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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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

Sources for Charcot-Marie-Tooth Disease Type 2b1

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet