CMT2B1
MCID: CHR650
MIFTS: 33

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 57 53
Charcot-Marie-Tooth Disease Type 2b1 12 75 53 59 29 6 15
Charcot-Marie-Tooth Disease, Type 2b1 57 13 40 72
Cmt2b1 57 12 74
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 74
Charcot-Marie-Tooth Neuropathy Type 2b1 12 74
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 74
Charcot-Marie-Tooth Disease Axonal Type 2b1 74
Charcot-Marie-Tooth Neuropathy, Type 2b1 57
Charcot Marie Tooth Disease Type 2b1 53
Charcot-Marie-Tooth Disease 2b1 74
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 autosomal recessive inheritance heterogeneous
Onset and clinical course onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110156
MeSH 44 D002607
ICD10 33 G60.0
MESH via Orphanet 45 C537990
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 73 C1854154
Orphanet 59 ORPHA98856
MedGen 42 C1854154
UMLS 72 C1854154

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

UniProtKB/Swiss-Prot : 74 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 charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2b1 is LMNA (Lamin A/C). Related phenotypes are areflexia and pes cavus

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)

Wikipedia : 75 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
Charcot-Marie-Tooth Disease, Axonal, Type 2ee 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 16)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2b2 29.7 TRIM2 SPG21 DNAJB2 COX6A1
2 charcot-marie-tooth disease 29.0 TRIM2 LMNA DNAJB2 COX6A1
3 tooth disease 10.2
4 sensory peripheral neuropathy 10.2
5 axonal neuropathy 9.5 TRIM2 LMNA
6 spastic paraplegia 46, autosomal recessive 9.4 SPG21 COX6A1
7 charcot-marie-tooth disease type 2a2 9.2 TRIM2 DNAJB2 COX6A1
8 charcot-marie-tooth disease intermediate type 8.6 TRIM2 SPG21 DNAJB2 COX6A1
9 charcot-marie-tooth disease, recessive intermediate d 8.2 TRIM2 SPG21 DNAJB2 COX6A1 C12orf65
10 charcot-marie-tooth disease, axonal, type 2h 8.2 TRIM2 SPG21 DNAJB2 COX6A1 C12orf65
11 charcot-marie-tooth disease, axonal, type 2r 8.2 TRIM2 SPG21 DNAJB2 COX6A1 C12orf65
12 spastic paraplegia 55, autosomal recessive 8.2 TRIM2 SPG21 DNAJB2 COX6A1 C12orf65
13 charcot-marie-tooth disease, axonal, type 2p 8.2 TRIM2 SPG21 DNAJB2 COX6A1 C12orf65
14 amyotrophic lateral sclerosis type 5 8.2 TRIM2 SPG21 DNAJB2 COX6A1 C12orf65
15 charcot-marie-tooth disease, axonal, type 2t 8.1 TRIM2 SPG21 DNAJB2 COX6A1 C12orf65
16 charcot-marie-tooth disease, axonal, type 2e 7.7 TRIM2 SPG21 LMNA DNAJB2 COX6A1 C12orf65

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:

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

Symptoms via clinical synopsis from OMIM:

57
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
Skeletal Spine:
kyphoscoliosis may be present

Skeletal Feet:
pes cavus
foot deformities

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 29 LMNA

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

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

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

# Title Authors PMID Year
1
New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome. 71
17711925 2007
2
Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 71
17377071 2007
3
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. 8
11799477 2002
4
A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3. 8
10441578 1999
5
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 71
20301532 1998
6
Charcot-Marie-Tooth Neuropathy Type 2 71
20301462 1998
7
"Laminopathies": a wide spectrum of human diseases. 38
17467691 2007

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

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LMNA NM_005572.3(LMNA): c.1445G> A (p.Arg482Gln) single nucleotide variant Pathogenic rs11575937 1:156106776-156106776 1:156136985-156136985
2 LMNA NM_005572.3(LMNA): c.892C> T (p.Arg298Cys) single nucleotide variant Pathogenic rs59885338 1:156105059-156105059 1:156135268-156135268
3 LMNA NM_005572.3(LMNA): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic rs59332535 1:156104702-156104702 1:156134911-156134911
4 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 1:156105758-156105758 1:156135967-156135967
5 LMNA NM_005572.3(LMNA): c.1381-5G> A single nucleotide variant Uncertain significance rs730880133 1:156106707-156106707 1:156136916-156136916
6 LMNA NM_005572.3(LMNA): c.1487C> T (p.Thr496Met) single nucleotide variant Uncertain significance rs200466188 1:156106818-156106818 1:156137027-156137027
7 LMNA NM_170707.4(LMNA): c.1756G> A (p.Val586Met) single nucleotide variant Uncertain significance rs758048062 1:156108336-156108336 1:156138545-156138545
8 LMNA NM_005572.3(LMNA): c.1243G> A (p.Val415Ile) single nucleotide variant Uncertain significance rs267607606 1:156106090-156106090 1:156136299-156136299
9 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 1:156106185-156106185 1:156136394-156136394
10 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 1:156107534-156107534 1:156137743-156137743

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

74
# Symbol AA change Variation ID SNP ID
1 LMNA p.Arg298Cys VAR_017661 rs59885338

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....