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, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Charcot-Marie-Tooth Disease, Type 2b1 51 12 67
Charcot-Marie-Tooth Neuropathy Type 2b1 11 24 69
Charcot-Marie-Tooth Disease Type 2b1 11 47 53
Cmt2b1 11 24 69
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1 11 53
Charcot-Marie-Tooth Disease Neuronal Type 2b1 11 69
Charcot-Marie-Tooth Disease, Axonal, Type 2b1 51 47
Autosomal Recessive Axonal Cmt4c1 11 53
 
Charcot-Marie-Tooth Disease 2b1 69 26
Cmt 2b1 47 24
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1 11
Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1 69
Charcot-Marie-Tooth Disease, Neuronal, Type 2b1 47
Charcot-Marie-Tooth Disease Axonal Type 2b1 69
Charcot Marie Tooth Disease Type 2b1 47
Ar-Cmt2b1 53

Characteristics:

Orphanet epidemiological data:

53
charcot-marie-tooth disease type 2b1:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

63
charcot-marie-tooth disease, type 2b1:
Inheritance: autosomal recessive inheritance
Onset and clinical course: onset

Classifications:



External Ids:

OMIM51 605588
Disease Ontology11 DOID:0110156
ICD1029 G60.0
Orphanet53 ORPHA98856
MESH via Orphanet39 C537990
UMLS via Orphanet68 C1854154
ICD10 via Orphanet30 G60.0
MedGen36 C1854154
MeSH38 D002607

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

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UniProtKB/Swiss-Prot:69 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:51 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 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:

 63 (show all 15)
id Description HPO Frequency HPO Source Accession
1 hyporeflexia63 HP:0001265
2 areflexia63 HP:0001284
3 pes cavus63 HP:0001761
4 distal muscle weakness63 HP:0002460
5 kyphoscoliosis63 HP:0002751
6 distal sensory impairment63 HP:0002936
7 steppage gait63 HP:0003376
8 axonal degeneration/regeneration63 HP:0003378
9 decreased number of peripheral myelinated nerve fibers63 HP:0003380
10 onion bulb formation63 HP:0003383
11 peripheral axonal atrophy63 HP:0003384
12 decreased motor nerve conduction velocity63 HP:0003431
13 upper limb muscle weakness63 HP:0003484
14 distal amyotrophy63 HP:0003693
15 foot dorsiflexor weakness63 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 2b126
2 Charcot-Marie-Tooth Neuropathy Type 2b124 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:

69
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet