MCID: CHR526
MIFTS: 28

Charcot-Marie-Tooth Disease, Type 2b1 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Fetal diseases, Ear diseases, Metabolic diseases

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

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Sources:
49OMIM, 11diseasecard, 65UMLS, 45NIH Rare Diseases, 51Orphanet, 22GeneTests, 67UniProtKB/Swiss-Prot, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Charcot-Marie-Tooth Disease, Type 2b1:

Name: Charcot-Marie-Tooth Disease, Type 2b1 49 11 65
Charcot-Marie-Tooth Neuropathy Type 2b1 22 67
Charcot-Marie-Tooth Disease Type 2b1 45 51
Charcot-Marie-Tooth Disease 2b1 67 24
Cmt 2b1 45 22
Cmt2b1 22 67
Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1 67
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1 51
 
Charcot-Marie-Tooth Disease, Neuronal, Type 2b1 45
Charcot-Marie-Tooth Disease Neuronal Type 2b1 67
Charcot-Marie-Tooth Disease, Axonal, Type 2b1 45
Charcot-Marie-Tooth Disease Axonal Type 2b1 67
Charcot Marie Tooth Disease Type 2b1 45
Autosomal Recessive Axonal Cmt4c1 51
Ar-Cmt2b1 51

Characteristics:

Orphanet epidemiological data:

51
charcot-marie-tooth disease type 2b1:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

61
charcot-marie-tooth disease, type 2b1:
Onset and clinical course: onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 605588
Orphanet51 98856
ICD10 via Orphanet28 G60.0
MESH via Orphanet37 C537990
UMLS via Orphanet66 C1854154
MedGen34 C1854154
MeSH36 D002607
UMLS65 C1854154

Summaries for Charcot-Marie-Tooth Disease, Type 2b1

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UniProtKB/Swiss-Prot:67 Charcot-Marie-Tooth disease 2B1: A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced.

MalaCards based summary: Charcot-Marie-Tooth Disease, Type 2b1, also known as charcot-marie-tooth neuropathy type 2b1, is related to charcot-marie-tooth disease, type 2a1 and charcot-marie-tooth disease, type 2b2, and has symptoms including foot dorsiflexor weakness, distal amyotrophy and upper limb muscle weakness. An important gene associated with Charcot-Marie-Tooth Disease, Type 2b1 is LMNA (Lamin A/C).

OMIM:49 Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and... (605588) more...

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 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 2b1 Charcot-Marie-Tooth Disease, Type 1b
Charcot-Marie-Tooth Disease, Type 2j Charcot-Marie-Tooth Disease, Type 2i
Charcot-Marie-Tooth Disease, Type 2b Charcot-Marie-Tooth Disease, Type 2r
Charcot-Marie-Tooth Disease, Type 4c Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Type 2d Charcot-Marie-Tooth Disease, Type 2e
Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Disease, Type 4a
Charcot-Marie-Tooth Disease, Recessive Intermediate, a Charcot-Marie-Tooth Disease, Type 4d
Charcot-Marie-Tooth Disease, Type 1d Charcot-Marie-Tooth Disease, Dominant Intermediate a
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 1c
Charcot-Marie-Tooth Disease, Recessive Intermediate, B Charcot-Marie-Tooth Disease, Type 1a
Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Type 4f Charcot-Marie-Tooth Disease, Type 2b2
Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease Intermediate Type Charcot-Marie-Tooth Disease Type 5
Charcot-Marie-Tooth Disease Type 7 Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type a Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type a Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B
Charcot-Marie-Tooth Disease Type 2a Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Disease Type 2g
Charcot-Marie-Tooth Disease Type 2h Charcot-Marie-Tooth Disease Type 2k
Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Disease Type 2n
Charcot-Marie-Tooth Disease Type 2o Charcot-Marie-Tooth Disease Type 2p
Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2v Surf1-Related Charcot-Marie-Tooth Disease Type 4
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation
Charcot-Marie-Tooth Disease Type 2t Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Vcp Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2k Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d

Diseases related to Charcot-Marie-Tooth Disease, Type 2b1 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease, type 2a110.3
2charcot-marie-tooth disease, type 2b210.3
3optic neuritis10.3
4neuritis10.3

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

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

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Interventional clinical trials:

Search ClinicalTrials, 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 Neuropathy Type 2b122 LMNA

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:

67
id Symbol AA change Variation ID SNP ID
1LMNAp.Arg298CysVAR_017661

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_170707.3(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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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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GO Terms for genes affiliated with Charcot-Marie-Tooth Disease, Type 2b1

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Sources for Charcot-Marie-Tooth Disease, Type 2b1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet