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:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Charcot-Marie-Tooth Disease, Type 2b1 50 12 66
Charcot-Marie-Tooth Disease, Axonal, Type 2b1 50 46
Charcot-Marie-Tooth Neuropathy Type 2b1 23 68
Charcot-Marie-Tooth Disease Type 2b1 46 52
Charcot-Marie-Tooth Disease 2b1 68 25
Cmt 2b1 46 23
Cmt2b1 23 68
Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1 68
 
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1 52
Charcot-Marie-Tooth Disease, Neuronal, Type 2b1 46
Charcot-Marie-Tooth Disease Neuronal Type 2b1 68
Charcot-Marie-Tooth Disease Axonal Type 2b1 68
Charcot Marie Tooth Disease Type 2b1 46
Autosomal Recessive Axonal Cmt4c1 52
Ar-Cmt2b1 52

Characteristics:

Orphanet epidemiological data:

52
charcot-marie-tooth disease type 2b1:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

62
charcot-marie-tooth disease, type 2b1:
Inheritance: autosomal recessive inheritance
Onset and clinical course: onset


Classifications:



External Ids:

OMIM50 605588
Orphanet52 ORPHA98856
ICD10 via Orphanet29 G60.0
MESH via Orphanet38 C537990
UMLS via Orphanet67 C1854154
MedGen35 C1854154
MeSH37 D002607

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

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UniProtKB/Swiss-Prot:68 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 disease, axonal, type 2b1, is related to charcot-marie-tooth disease, type 2a1 and charcot-marie-tooth disease, type 2b2, and has symptoms including gait, drop foot, gait, drop foot and hyporeflexia. An important gene associated with Charcot-Marie-Tooth Disease, Type 2b1 is LMNA (Lamin A/C).

OMIM:50 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 Charcot-Marie-Tooth Disease Type 2l
Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease Type 2o
Charcot-Marie-Tooth Disease Type 2q 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 Charcot-Marie-Tooth Disease Type 2h
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 2k
Charcot-Marie-Tooth Disease Type 2p Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Surf1-Related Charcot-Marie-Tooth Disease Type 4 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
Charcot-Marie-Tooth Disease 2z

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 2a110.0
2charcot-marie-tooth disease, type 2b210.0

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

UMLS symptoms related to Charcot-Marie-Tooth Disease, Type 2b1:


gait, drop foot

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 Disease Type 2b125
2 Charcot-Marie-Tooth Neuropathy Type 2b123 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:

68
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet