MCID: CHR526
MIFTS: 27

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:
11Disease Ontology, 12diseasecard, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Charcot-Marie-Tooth Disease, Type 2b1 52 12 68
Charcot-Marie-Tooth Neuropathy Type 2b1 11 24 70
Charcot-Marie-Tooth Disease Type 2b1 11 48 54
Cmt2b1 11 24 70
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1 11 54
Charcot-Marie-Tooth Disease Neuronal Type 2b1 11 70
Charcot-Marie-Tooth Disease, Axonal, Type 2b1 52 48
Autosomal Recessive Axonal Cmt4c1 11 54
 
Charcot-Marie-Tooth Disease 2b1 70 27
Cmt 2b1 48 24
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1 11
Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1 70
Charcot-Marie-Tooth Disease, Neuronal, Type 2b1 48
Charcot-Marie-Tooth Disease Axonal Type 2b1 70
Charcot Marie Tooth Disease Type 2b1 48
Ar-Cmt2b1 54

Characteristics:

Orphanet epidemiological data:

54
charcot-marie-tooth disease type 2b1:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

64
charcot-marie-tooth disease, type 2b1:
Inheritance: autosomal recessive inheritance
Onset and clinical course: onset

Classifications:



External Ids:

OMIM52 605588
Disease Ontology11 DOID:0110156
ICD1030 G60.0
Orphanet54 ORPHA98856
MESH via Orphanet40 C537990
UMLS via Orphanet69 C1854154
ICD10 via Orphanet31 G60.0
MedGen37 C1854154
MeSH39 D002607

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

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UniProtKB/Swiss-Prot:70 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 hyporeflexia, areflexia and pes cavus. An important gene associated with Charcot-Marie-Tooth Disease, Type 2b1 is LMNA (Lamin A/C).

Disease Ontology:11 A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.

OMIM:52 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 Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 4k Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease
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 2l
Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease Type 2o
Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Recessive Charcot Marie Tooth Disease Type 2x Autosomal Dominant Charcot-Marie-Tooth Disease Type 2z
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Charcot-Marie-Tooth Disease Type 2t
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 Charcot-Marie-Tooth Disease 2a2b
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 2a110.8
2charcot-marie-tooth disease, type 2b210.8

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Type 2b1

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Symptoms by clinical synopsis from OMIM:

605588

Clinical features from OMIM:

605588

Human phenotypes related to Charcot-Marie-Tooth Disease, Type 2b1:

 64 (show all 15)
id Description HPO Frequency HPO Source Accession
1 hyporeflexia64 HP:0001265
2 areflexia64 HP:0001284
3 pes cavus64 HP:0001761
4 distal muscle weakness64 HP:0002460
5 kyphoscoliosis64 HP:0002751
6 distal sensory impairment64 HP:0002936
7 steppage gait64 HP:0003376
8 axonal degeneration/regeneration64 HP:0003378
9 decreased number of peripheral myelinated nerve fibers64 HP:0003380
10 onion bulb formation64 HP:0003383
11 peripheral axonal atrophy64 HP:0003384
12 decreased motor nerve conduction velocity64 HP:0003431
13 upper limb muscle weakness64 HP:0003484
14 distal amyotrophy64 HP:0003693
15 foot dorsiflexor weakness64 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 2b127
2 Charcot-Marie-Tooth Neuropathy Type 2b124 LMNA

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

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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:

70
id Symbol AA change Variation ID SNP ID
1LMNAp.Arg298CysVAR_017661rs59885338

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)SNVPathogenicrs59885338GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet