CMT2B1
MCID: CHR526
MIFTS: 33

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

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

Name: Charcot-Marie-Tooth Disease, Type 2b1 54 13 69
Charcot-Marie-Tooth Disease Type 2b1 12 50 56 14
Charcot-Marie-Tooth Neuropathy Type 2b1 12 24 66
Cmt2b1 12 24 66
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1 12 56
Charcot-Marie-Tooth Disease, Axonal, Type 2b1 54 50
Charcot-Marie-Tooth Disease Neuronal Type 2b1 12 66
Autosomal Recessive Axonal Cmt4c1 12 56
Charcot-Marie-Tooth Disease 2b1 66 29
Cmt 2b1 50 24
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1 12
Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1 66
Charcot-Marie-Tooth Disease, Neuronal, Type 2b1 50
Charcot-Marie-Tooth Disease Axonal Type 2b1 66
Charcot Marie Tooth Disease Type 2b1 50
Ar-Cmt2b1 56

Characteristics:

Orphanet epidemiological data:

56
charcot-marie-tooth disease type 2b1
Inheritance: Autosomal recessive; Age of onset: Childhood;

HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 605588
Disease Ontology 12 DOID:0110156
ICD10 33 G60.0
Orphanet 56 ORPHA98856
MESH via Orphanet 43 C537990
UMLS via Orphanet 70 C1854154
ICD10 via Orphanet 34 G60.0
MedGen 40 C1854154
MeSH 42 D002607

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

UniProtKB/Swiss-Prot : 66 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 disease type 2b1, is related to charcot-marie-tooth disease, type 2a1 and charcot-marie-tooth disease, type 2b2, and has symptoms including pes cavus, decreased motor nerve conduction velocity and areflexia. An important gene associated with Charcot-Marie-Tooth Disease, Type 2b1 is LMNA (Lamin A/C). Related phenotype is behavior/neurological.

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 : 54 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

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:

(show all 27)
id Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, type 2a1 10.8
2 charcot-marie-tooth disease, type 2b2 10.8
3 charcot-marie-tooth disease, axonal, type 2k 10.0 GDAP1 JPH1
4 multiple epiphyseal dysplasia with robin phenotype 10.0 GDAP1 JPH1
5 alazami syndrome 10.0 COX6A1 TRIM2
6 ovarian stromal hyperthecosis 9.9 LMNA TRIM2
7 korsakoff's amnesic syndrome 9.9 DNAJB2 LMNA
8 wernicke-korsakoff syndrome 9.9 GDAP1 LMNA
9 spondylolisthesis 9.9 DNAJB2 LMNA
10 thrombophilia due to antithrombin iii deficiency 9.8 DNAJB2 GDAP1 LMNA
11 conotruncal heart malformations 9.8 DNAJB2 GDAP1 LMNA
12 mitochondrial complex v deficiency, nuclear type 2 9.8 DNAJB2 GDAP1 JPH1
13 charcot-marie-tooth disease, type 2j 9.7 DNAJB2 GDAP1 JPH1
14 congenital adrenal insufficiency 9.7 COX6A1 DNAJB2 TRIM2
15 alacrima, achalasia, and mental retardation syndrome 9.7 COX6A1 DNAJB2 TRIM2
16 diabetes mellitus, insulin-dependent 9.7 COX6A1 DNAJB2 TRIM2
17 meckel syndrome 8 9.7 COX6A1 DNAJB2 TRIM2
18 moyamoya 6 with achalasia 9.7 COX6A1 DNAJB2 TRIM2
19 charcot-marie-tooth disease, type 2a2 9.7 COX6A1 DNAJB2 TRIM2
20 dystonia 23 9.7 COX6A1 DNAJB2 TRIM2
21 nonaka myopathy 9.7 COX6A1 DNAJB2 TRIM2
22 balo concentric sclerosis 9.7 COX6A1 DNAJB2 TRIM2
23 pituitary adenoma, prolactin-secreting 9.6 COX6A1 DNAJB2 LMNA TRIM2
24 joubert syndrome 21 9.5 COX6A1 DNAJB2 GDAP1 TRIM2
25 glaucoma 1, open angle, 1o 9.4 COX6A1 DNAJB2 GDAP1 JPH1 TRIM2
26 muscular dystrophy, congenital 9.2 COX6A1 DNAJB2 GDAP1 JPH1 LMNA TRIM2
27 chromophobe renal cell carcinoma 9.2 COX6A1 DNAJB2 GDAP1 JPH1 LMNA TRIM2

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



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

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

Symptoms by clinical synopsis from OMIM:

605588

Clinical features from OMIM:

605588

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

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

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.02 COX6A1 GDAP1 JPH1 LMNA TRIM2

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

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

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

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

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 2b1 29
2 Charcot-Marie-Tooth Neuropathy Type 2b1 24 LMNA

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

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

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

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

66
id Symbol AA change Variation ID SNP ID
1 LMNA p.Arg298Cys VAR_017661 rs59885338

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

6
id 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

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

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

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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