CMT2B1
MCID: CHR650
MIFTS: 44

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 56 52
Charcot-Marie-Tooth Disease Type 2b1 12 74 52 58 29 6 15
Charcot-Marie-Tooth Disease, Type 2b1 56 13 39 71
Cmt2b1 56 12 73
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1 12 58
Charcot-Marie-Tooth Disease, Neuronal, Type 2b1 56 52
Charcot-Marie-Tooth Disease Neuronal Type 2b1 12 73
Charcot-Marie-Tooth Neuropathy Type 2b1 12 73
Autosomal Recessive Axonal Cmt4c1 12 58
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b1 56
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1 12
Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1 73
Charcot-Marie-Tooth Disease Axonal Type 2b1 73
Charcot-Marie-Tooth Neuropathy, Type 2b1 56
Charcot Marie Tooth Disease Type 2b1 52
Charcot-Marie-Tooth Disease 2b1 73
Ar-Cmt2b1 58
Cmt 2b1 52

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease type 2b1
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

56
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:

31
charcot-marie-tooth disease, axonal, type 2b1:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110156
OMIM 56 605588
OMIM Phenotypic Series 56 PS118220
MeSH 43 D002607
ICD10 32 G60.0
MESH via Orphanet 44 C537990
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C1854154
Orphanet 58 ORPHA98856
MedGen 41 C1854154
UMLS 71 C1854154

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

UniProtKB/Swiss-Prot : 73 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 tooth disease and charcot-marie-tooth disease, axonal, type 2b2. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2b1 is LMNA (Lamin A/C), and among its related pathways/superpathways are Cytoskeletal Signaling and Meiosis. 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 : 56 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 : 74 Charcot-Marie-Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies of the... 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 top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 tooth disease 30.1 MFN2 LRSAM1 LMNA GDAP1
2 charcot-marie-tooth disease, axonal, type 2b2 29.7 SPG21 MFN2 LRSAM1 GDAP1 DNAJB2 C12orf65
3 charcot-marie-tooth disease 27.6 SUN1 MFN2 LRSAM1 LMNB2 LMNB1 LMNA
4 emerinopathy 10.5 LMNA EMD
5 first-degree atrioventricular block 10.4 LMNA EMD
6 mandibuloacral dysplasia with type a lipodystrophy 10.4 ZMPSTE24 LMNA
7 lipodystrophy, familial partial, type 1 10.4 ZMPSTE24 LMNA
8 acroosteolysis 10.4 ZMPSTE24 LMNA
9 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.4 ZMPSTE24 LMNA
10 restrictive dermopathy, lethal 10.3 ZMPSTE24 LMNA
11 osteopoikilosis 10.3 LMNA EMD
12 charcot-marie-tooth disease, axonal, type 2b 10.3 MFN2 GDAP1
13 complete generalized lipodystrophy 10.3 ZMPSTE24 LMNA
14 autosomal dominant limb-girdle muscular dystrophy 10.3 LMNA EMD
15 nonencapsulated sclerosing carcinoma 10.3 LMNB2 LMNB1 LMNA
16 muscular dystrophy, congenital merosin-deficient, 1a 10.2 LMNA EMD
17 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 TMEM43 LMNA
18 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 TMEM43 LMNA
19 sensory peripheral neuropathy 10.2
20 charcot-marie-tooth disease type 2a2 10.2 MFN2 GDAP1
21 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 TMEM43 LMNA
22 charcot-marie-tooth disease, axonal, type 2j 10.2 MFN2 GDAP1
23 lipodystrophy, congenital generalized, type 1 10.2 ZMPSTE24 LMNA
24 charcot-marie-tooth disease, axonal, type 2l 10.2 MFN2 GDAP1
25 charcot-marie-tooth disease, axonal, type 2i 10.2 MFN2 GDAP1
26 charcot-marie-tooth disease, axonal, type 2n 10.2 MFN2 GDAP1
27 charcot-marie-tooth disease, axonal, type 2f 10.2 MFN2 GDAP1
28 charcot-marie-tooth disease type x 10.2 MFN2 GDAP1
29 x-linked emery-dreifuss muscular dystrophy 10.2 SYNE1 LMNA EMD
30 charcot-marie-tooth disease, x-linked dominant, 1 10.2 MFN2 GDAP1
31 myopathy, x-linked, with postural muscle atrophy 10.2 TMEM43 EMD
32 left bundle branch hemiblock 10.1 TMEM43 LMNA
33 charcot-marie-tooth disease, axonal, type 2k 10.1 GDAP1 DNAJB2
34 charcot-marie-tooth disease, axonal, type 2d 10.1 MFN2 GDAP1
35 charcot-marie-tooth disease, demyelinating, type 1b 10.1 MFN2 GDAP1
36 charcot-marie-tooth disease, type 4c 10.1 MFN2 GDAP1
37 charcot-marie-tooth disease, demyelinating, type 1c 10.1 LRSAM1 GDAP1
38 axonal neuropathy 10.1 MFN2 LMNA GDAP1
39 muscle tissue disease 10.1 LMNB2 LMNB1 LMNA EMD
40 reynolds syndrome 10.0 ZMPSTE24 LMNB2 LMNB1 LMNA
41 laminopathy 10.0 ZMPSTE24 SUN1 LMNA EMD
42 skin atrophy 10.0 ZMPSTE24 LMNA
43 charcot-marie-tooth disease, axonal, type 2a1 10.0 MFN2 LRSAM1 GDAP1
44 hereditary motor and sensory neuropathy, type iic 10.0 MFN2 LRSAM1 GDAP1
45 charcot-marie-tooth disease and deafness 10.0 MFN2 LRSAM1 GDAP1
46 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.9 SYNE1 SUN1 LMNA EMD
47 charcot-marie-tooth disease, demyelinating, type 1a 9.9 MFN2 GDAP1
48 neuropathy, hereditary motor and sensory, type via, with optic atrophy 9.9 MFN2 C12orf65
49 hereditary neuropathies 9.9 MFN2 LMNA DNAJB2
50 charcot-marie-tooth disease, recessive intermediate a 9.9 MFN2 GDAP1 DNAJB2

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:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 areflexia 31 HP:0001284
2 pes cavus 31 HP:0001761
3 decreased motor nerve conduction velocity 31 HP:0003431
4 kyphoscoliosis 31 HP:0002751
5 hyporeflexia 31 HP:0001265
6 proximal muscle weakness 31 HP:0003701
7 distal amyotrophy 31 HP:0003693
8 foot dorsiflexor weakness 31 HP:0009027
9 upper limb muscle weakness 31 HP:0003484
10 distal muscle weakness 31 HP:0002460
11 steppage gait 31 HP:0003376
12 distal sensory impairment 31 HP:0002936
13 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
14 onion bulb formation 31 HP:0003383
15 axonal degeneration/regeneration 31 HP:0003378
16 peripheral axonal atrophy 31 HP:0003384

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2b1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 EMD GDAP1 LMNA LRSAM1 MFN2 SUN1
2 cardiovascular system MP:0005385 9.86 EMD GDAP1 LMNA MFN2 SUN1 SYNE1
3 cellular MP:0005384 9.85 CCDC87 EMD GDAP1 LMNA LMNB1 LMNB2
4 muscle MP:0005369 9.56 EMD LMNA LMNB1 LMNB2 MFN2 SUN1
5 nervous system MP:0003631 9.28 GDAP1 LMNA LMNB1 LMNB2 LRSAM1 MFN2

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. 6
17711925 2007
2
Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 6
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. 56
11799477 2002
4
A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3. 56
10441578 1999
5
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
6
Charcot-Marie-Tooth Neuropathy Type 2 6
20301462 1998
7
"Laminopathies": a wide spectrum of human diseases. 61
17467691 2007

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

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

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)SNV Pathogenic 14486 rs11575937 1:156106776-156106776 1:156136985-156136985
2 LMNA NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)SNV Pathogenic 14498 rs59885338 1:156105059-156105059 1:156135268-156135268
3 LMNA NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)SNV Pathogenic 66931 rs59332535 1:156104702-156104702 1:156134911-156134911
4 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)SNV Pathogenic/Likely pathogenic 36473 rs386134243 1:156105758-156105758 1:156135967-156135967
5 LMNA NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)SNV Pathogenic/Likely pathogenic 66762 rs267607555 1:156105800-156105800 1:156136009-156136009
6 LMNA NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)SNV Uncertain significance 66797 rs267607606 1:156106090-156106090 1:156136299-156136299
7 LMNA NM_170707.4(LMNA):c.1381-5G>ASNV Uncertain significance 180405 rs730880133 1:156106707-156106707 1:156136916-156136916
8 LMNA NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)SNV Uncertain significance 245964 rs200466188 1:156106818-156106818 1:156137027-156137027
9 LMNA NM_170707.4(LMNA):c.1756G>A (p.Val586Met)SNV Uncertain significance 487635 rs758048062 1:156108336-156108336 1:156138545-156138545
10 LMNA NM_170707.4(LMNA):c.1338T>C (p.Asp446=)SNV Benign 48037 rs505058 1:156106185-156106185 1:156136394-156136394
11 LMNA NM_005572.3(LMNA):c.1698C>T (p.His566=)SNV Benign 48048 rs4641 1:156107534-156107534 1:156137743-156137743
12 LMNA NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg)SNV not provided 684440 1:156106979-156106979 1:156137188-156137188

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

73
# 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

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

# Super pathways Score Top Affiliating Genes
1 12.05 LMNB2 LMNB1 LMNA EMD
2
Show member pathways
11.92 SYNE1 SUN1 LMNB1 LMNA
3 11.81 LMNB2 LMNB1 LMNA
4
Show member pathways
11.76 LMNB2 LMNB1 LMNA
5
Show member pathways
10.82 LMNB2 LMNB1 LMNA
6
Show member pathways
10.32 LMNB1 LMNA EMD

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 membrane GO:0016020 10.21 ZMPSTE24 TMEM43 SYNE1 SUN1 SPG21 MFN2
2 nuclear membrane GO:0031965 9.7 SYNE1 SUN1 LMNB2 LMNB1 LMNA EMD
3 intermediate filament GO:0005882 9.63 LMNB2 LMNB1 LMNA
4 nuclear envelope GO:0005635 9.5 ZMPSTE24 SYNE1 SUN1 LMNB2 LMNB1 LMNA
5 lamin filament GO:0005638 9.43 LMNB2 LMNB1 LMNA
6 nuclear outer membrane GO:0005640 9.4 SYNE1 EMD
7 integral component of nuclear inner membrane GO:0005639 9.37 TMEM43 SUN1
8 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.32 SYNE1 SUN1
9 nuclear inner membrane GO:0005637 9.1 ZMPSTE24 TMEM43 SUN1 LMNB2 LMNB1 EMD

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

# Name GO ID Score Top Affiliating Genes
1 protein targeting to mitochondrion GO:0006626 9.4 MFN2 GDAP1
2 mitochondrial fusion GO:0008053 9.37 MFN2 GDAP1
3 mitotic nuclear envelope reassembly GO:0007084 9.32 LMNA EMD
4 cytoskeletal anchoring at nuclear membrane GO:0090286 9.26 SYNE1 SUN1
5 nuclear matrix anchoring at nuclear membrane GO:0090292 9.16 SYNE1 SUN1
6 nucleus organization GO:0006997 9.13 ZMPSTE24 SYNE1 LMNA
7 nuclear envelope organization GO:0006998 8.8 ZMPSTE24 SUN1 LMNA

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.47 ZMPSTE24 TMEM43 SYNE1 SUN1 SPG21 MFN2
2 lamin binding GO:0005521 8.96 SYNE1 SUN1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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