MCID: CHR650
MIFTS: 29

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

Categories: Genetic diseases, Rare diseases, Neuronal 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 57 53
Charcot-Marie-Tooth Disease Type 2b1 12 53 59 29 6 15
Charcot-Marie-Tooth Disease, Type 2b1 57 13 40 73
Cmt2b1 57 12 75
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1 12 59
Charcot-Marie-Tooth Disease, Neuronal, Type 2b1 57 53
Charcot-Marie-Tooth Disease Neuronal Type 2b1 12 75
Charcot-Marie-Tooth Neuropathy Type 2b1 12 75
Autosomal Recessive Axonal Cmt4c1 12 59
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b1 57
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1 12
Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1 75
Charcot-Marie-Tooth Disease Axonal Type 2b1 75
Charcot-Marie-Tooth Neuropathy, Type 2b1 57
Charcot Marie Tooth Disease Type 2b1 53
Charcot-Marie-Tooth Disease 2b1 75
Ar-Cmt2b1 59
Cmt 2b1 53

Characteristics:

Orphanet epidemiological data:

59
charcot-marie-tooth disease type 2b1
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
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:

32
charcot-marie-tooth disease, axonal, type 2b1:
Inheritance heterogeneous autosomal recessive inheritance
Onset and clinical course onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 605588
Disease Ontology 12 DOID:0110156
ICD10 33 G60.0
Orphanet 59 ORPHA98856
MESH via Orphanet 45 C537990
UMLS via Orphanet 74 C1854154
ICD10 via Orphanet 34 G60.0
MedGen 42 C1854154
MeSH 44 D002607
UMLS 73 C1854154

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

UniProtKB/Swiss-Prot : 75 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, Axonal, Type 2b1, also known as charcot-marie-tooth disease type 2b1, is related to charcot-marie-tooth disease, axonal, type 2b2 and aging. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2b1 is LMNA (Lamin A/C). Related phenotypes are hyporeflexia and areflexia

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 : 57 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)

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

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

(show all 18)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2b2 28.2 COX6A1 DNAJB2 JPH1 SPG21 TRIM2
2 aging 10.0
3 spastic paraplegia 56, autosomal recessive 9.7 COX6A1 TRIM2
4 axonal neuropathy 9.5 LMNA TRIM2
5 hereditary neuropathies 9.5 DNAJB2 LMNA
6 charcot-marie-tooth disease, axonal, type 2k 9.3 DNAJB2 JPH1
7 spastic paraplegia 46, autosomal recessive 9.1 COX6A1 SPG21 TRIM2
8 charcot-marie-tooth disease intermediate type 8.8 COX6A1 DNAJB2 TRIM2
9 charcot-marie-tooth disease type 2a2 8.3 COX6A1 DNAJB2 SPG21 TRIM2
10 charcot-marie-tooth disease, axonal, type 2h 8.3 COX6A1 DNAJB2 SPG21 TRIM2
11 charcot-marie-tooth disease, recessive intermediate d 8.3 COX6A1 DNAJB2 SPG21 TRIM2
12 spastic paraplegia 55, autosomal recessive 8.3 COX6A1 DNAJB2 SPG21 TRIM2
13 charcot-marie-tooth disease, axonal, type 2r 8.3 COX6A1 DNAJB2 SPG21 TRIM2
14 charcot-marie-tooth disease, axonal, type 2p 8.3 COX6A1 DNAJB2 SPG21 TRIM2
15 amyotrophic lateral sclerosis type 5 8.2 COX6A1 DNAJB2 SPG21 TRIM2
16 charcot-marie-tooth disease, axonal, type 2t 8.2 COX6A1 DNAJB2 SPG21 TRIM2
17 charcot-marie-tooth disease 7.8 COX6A1 DNAJB2 JPH1 LMNA TRIM2
18 charcot-marie-tooth disease, axonal, type 2e 7.3 COX6A1 DNAJB2 JPH1 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hyporeflexia 32 HP:0001265
2 areflexia 32 HP:0001284
3 pes cavus 32 HP:0001761
4 distal muscle weakness 32 HP:0002460
5 kyphoscoliosis 32 HP:0002751
6 distal sensory impairment 32 HP:0002936
7 steppage gait 32 HP:0003376
8 axonal degeneration/regeneration 32 HP:0003378
9 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
10 onion bulb formation 32 HP:0003383
11 peripheral axonal atrophy 32 HP:0003384
12 decreased motor nerve conduction velocity 32 HP:0003431
13 upper limb muscle weakness 32 HP:0003484
14 distal amyotrophy 32 HP:0003693
15 proximal muscle weakness 32 HP:0003701
16 foot dorsiflexor weakness 32 HP:0009027

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 29 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:

75
# 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
# 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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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