CMT2B1
MCID: CHR650
MIFTS: 30

Charcot-Marie-Tooth Disease, Axonal, Type 2b1 (CMT2B1)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

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

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, Type 2b1:

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2b1 58 54
Charcot-Marie-Tooth Disease Type 2b1 12 77 54 60 30 6 15
Charcot-Marie-Tooth Disease, Type 2b1 58 13 41 74
Cmt2b1 58 12 76
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1 12 60
Charcot-Marie-Tooth Disease, Neuronal, Type 2b1 58 54
Charcot-Marie-Tooth Disease Neuronal Type 2b1 12 76
Charcot-Marie-Tooth Neuropathy Type 2b1 12 76
Autosomal Recessive Axonal Cmt4c1 12 60
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b1 58
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1 12
Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1 76
Charcot-Marie-Tooth Disease Axonal Type 2b1 76
Charcot-Marie-Tooth Neuropathy, Type 2b1 58
Charcot Marie Tooth Disease Type 2b1 54
Charcot-Marie-Tooth Disease 2b1 76
Ar-Cmt2b1 60
Cmt 2b1 54

Characteristics:

Orphanet epidemiological data:

60
charcot-marie-tooth disease type 2b1
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
usually begins in feet and legs (peroneal distribution)
onset in second decade
upper limb involvement may occur later
severe course
genetic heterogeneity (see cmt2b2, )
for autosomal dominant forms of axonal neuropathy, see cmt2a


HPO:

33
charcot-marie-tooth disease, axonal, type 2b1:
Inheritance heterogeneous autosomal recessive inheritance
Onset and clinical course onset


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110156
OMIM 58 605588
MeSH 45 D002607
ICD10 34 G60.0
MESH via Orphanet 46 C537990
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C1854154
Orphanet 60 ORPHA98856
MedGen 43 C1854154
UMLS 74 C1854154

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

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2b1, also known as charcot-marie-tooth disease type 2b1, is related to charcot-marie-tooth disease, axonal, type 2b2 and axonal neuropathy. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2b1 is LMNA (Lamin A/C). Related phenotypes are pes cavus and decreased motor nerve conduction velocity

Disease Ontology : 12 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 : 58 Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies. On the basis of electrophysiologic criteria, CMT is divided into 2 major types: type 1, the demyelinating form, characterized by a motor median nerve conduction velocity less than 38 m/s (see CMT1B; 118200); and type 2, the axonal form, with a normal or slightly reduced nerve conduction velocity. For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A1 (118210). (605588)

Wikipedia : 77 Charcot–Marie–Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group of... more...

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

Diseases in the Charcot-Marie-Tooth Disease, Axonal, Type 2e family:

Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2b
Charcot-Marie-Tooth Disease, Axonal, Type 2d Charcot-Marie-Tooth Disease, Axonal, Type 2b1
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Type 2f
Charcot-Marie-Tooth Disease, Axonal, Type 2i Charcot-Marie-Tooth Disease, Axonal, Type 2h
Charcot-Marie-Tooth Disease, Axonal, Type 2j Charcot-Marie-Tooth Disease, Axonal, Type 2k
Charcot-Marie-Tooth Disease, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a
Charcot-Marie-Tooth Disease, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Type 2o
Charcot-Marie-Tooth Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2q
Charcot-Marie-Tooth Disease, Axonal, Type 2r Charcot-Marie-Tooth Disease, Axonal, Type 2u
Charcot-Marie-Tooth Disease, Axonal, Type 2v Charcot-Marie-Tooth Disease, Axonal, Type 2w
Charcot-Marie-Tooth Disease, Axonal, Type 2x Charcot-Marie-Tooth Disease, Axonal, Type 2z
Charcot-Marie-Tooth Disease, Axonal, Type 2cc Charcot-Marie-Tooth Disease, Axonal, Type 2t
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b Charcot-Marie-Tooth Disease, Axonal, Type 2dd
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2b2 30.4 COX6A1 DNAJB2 SPG21 TRIM2
2 axonal neuropathy 9.7 LMNA TRIM2
3 spastic paraplegia 46, autosomal recessive 9.7 COX6A1 SPG21
4 charcot-marie-tooth disease type 2a2 9.5 COX6A1 DNAJB2 TRIM2
5 charcot-marie-tooth disease 9.4 COX6A1 DNAJB2 LMNA TRIM2
6 charcot-marie-tooth disease intermediate type 9.1 COX6A1 DNAJB2 SPG21 TRIM2
7 charcot-marie-tooth disease, axonal, type 2h 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
8 charcot-marie-tooth disease, recessive intermediate d 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
9 spastic paraplegia 55, autosomal recessive 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
10 charcot-marie-tooth disease, axonal, type 2r 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
11 charcot-marie-tooth disease, axonal, type 2p 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
12 amyotrophic lateral sclerosis type 5 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
13 charcot-marie-tooth disease, axonal, type 2t 8.8 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
14 charcot-marie-tooth disease, axonal, type 2e 8.6 C12orf65 COX6A1 DNAJB2 LMNA SPG21 TRIM2

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2b1:



Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2b1

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

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

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 pes cavus 33 HP:0001761
2 decreased motor nerve conduction velocity 33 HP:0003431
3 kyphoscoliosis 33 HP:0002751
4 areflexia 33 HP:0001284
5 hyporeflexia 33 HP:0001265
6 proximal muscle weakness 33 HP:0003701
7 foot dorsiflexor weakness 33 HP:0009027
8 upper limb muscle weakness 33 HP:0003484
9 distal muscle weakness 33 HP:0002460
10 steppage gait 33 HP:0003376
11 distal amyotrophy 33 HP:0003693
12 distal sensory impairment 33 HP:0002936
13 decreased number of peripheral myelinated nerve fibers 33 HP:0003380
14 onion bulb formation 33 HP:0003383
15 axonal degeneration/regeneration 33 HP:0003378
16 peripheral axonal atrophy 33 HP:0003384

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes cavus
foot deformities

Skeletal Spine:
kyphoscoliosis may be present

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
more

Clinical features from OMIM:

605588

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

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

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

Genetic tests related to Charcot-Marie-Tooth Disease, Axonal, Type 2b1:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 2b1 30 LMNA

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

Publications for Charcot-Marie-Tooth Disease, Axonal, Type 2b1

Variations for Charcot-Marie-Tooth Disease, Axonal, Type 2b1

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

76
# Symbol AA change Variation ID SNP ID
1 LMNA p.Arg298Cys VAR_017661 rs59885338

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 LMNA NM_170707.3(LMNA): c.892C> T (p.Arg298Cys) single nucleotide variant Pathogenic rs59885338 GRCh37 Chromosome 1, 156105059: 156105059
2 LMNA NM_170707.3(LMNA): c.892C> T (p.Arg298Cys) single nucleotide variant Pathogenic rs59885338 GRCh38 Chromosome 1, 156135268: 156135268
3 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh37 Chromosome 1, 156105758: 156105758
4 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh38 Chromosome 1, 156135967: 156135967
5 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh37 Chromosome 1, 156106185: 156106185
6 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh38 Chromosome 1, 156136394: 156136394
7 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh37 Chromosome 1, 156107534: 156107534
8 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh38 Chromosome 1, 156137743: 156137743
9 LMNA NM_170707.3(LMNA): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic rs59332535 GRCh37 Chromosome 1, 156104702: 156104702
10 LMNA NM_170707.3(LMNA): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic rs59332535 GRCh38 Chromosome 1, 156134911: 156134911
11 LMNA NM_170707.3(LMNA): c.1487C> T (p.Thr496Met) single nucleotide variant Uncertain significance rs200466188 GRCh37 Chromosome 1, 156106818: 156106818
12 LMNA NM_170707.3(LMNA): c.1487C> T (p.Thr496Met) single nucleotide variant Uncertain significance rs200466188 GRCh38 Chromosome 1, 156137027: 156137027

Expression for Charcot-Marie-Tooth Disease, Axonal, Type 2b1

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, Type 2b1.

Pathways for Charcot-Marie-Tooth Disease, Axonal, Type 2b1

GO Terms for Charcot-Marie-Tooth Disease, Axonal, Type 2b1

Cellular components related to Charcot-Marie-Tooth Disease, Axonal, Type 2b1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear membrane GO:0031965 8.62 DNAJB2 LMNA

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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