MCID: CHR530
MIFTS: 42

Charcot-Marie-Tooth Disease, Type 2b

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Metabolic diseases, Fetal diseases, Ear diseases

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

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

Name: Charcot-Marie-Tooth Disease, Type 2b 54 13
Cmt2b 12 24 56 71
Charcot-Marie-Tooth Disease, Axonal, Type 2b 50 29 69
Charcot-Marie-Tooth Neuropathy Type 2b 12 24 71
Charcot-Marie-Tooth Disease Type 2b 12 50 14
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b 12 56
Hmsn Iib 12 71
Hmsn2b 12 71
Cmt 2b 50 24
Peripheral Sensory Neuropathy, Autosomal Dominant 50
Peripheral Sensory Neuropathy Autosomal Dominant 71
Charcot-Marie-Tooth Disease, Neuronal, Type 2b 50
Charcot-Marie-Tooth Disease Neuronal Type 2b 71
Hereditary Motor and Sensory Nueropathy Iib 12
Hereditary Motor and Sensory Neuropathy 2 B 50
Hereditary Motor and Sensory Neuropathy Iib 71
Charcot-Marie-Tooth Disease Axonal Type 2b 71
Charcot Marie Tooth Disease Type 2b 50
Charcot-Marie-Tooth Disease 2b 71
Psn 71

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant charcot-marie-tooth disease type 2b
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
usually begins in feet and legs (peroneal distribution)
peak age of onset in second decade
may progress to upper limbs
phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, )


HPO:

32
charcot-marie-tooth disease, type 2b:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 600882
Disease Ontology 12 DOID:0110159
ICD10 33 G60.0
Orphanet 56 ORPHA99936
UMLS via Orphanet 70 C1833219
ICD10 via Orphanet 34 G60.0
MedGen 40 C1833219

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

UniProtKB/Swiss-Prot : 71 Charcot-Marie-Tooth disease 2B: A dominant 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 2b, also known as cmt2b, is related to dnm2-related intermediate charcot-marie-tooth neuropathy and charcot-marie-tooth disease, type 2i, and has symptoms including hyporeflexia, pes cavus and areflexia. An important gene associated with Charcot-Marie-Tooth Disease, Type 2b is RAB7A (RAB7A, Member RAS Oncogene Family), and among its related pathways/superpathways is Neural Crest Differentiation. Related phenotypes are behavior/neurological and mortality/aging

NIH Rare Diseases : 50 charcot-marie-tooth disease type 2b (cmt2b) is an inheritedperipheral neuropathy with onset in the second or third decade of life. common signs and symptoms include severe loss of sensation in the feet, lower legs, hands, and forearms; reduced tendon reflexes in the ankles; weakness in the lower limbs; and the loss of muscle tissue (muscle atrophy). this type of cmt is also associated with the formation of ulcers in the hands and feet. cmt2b is caused by changes in the rab7a gene. it is inherited in an autosomal dominant fashion. treatment is aimed at addressing the symptoms in each patient and often involves a team of specialists. last updated: 3/15/2017

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the RAB7 gene on chromosome 3q21.

Description from OMIM: 600882

Related Diseases for Charcot-Marie-Tooth Disease, Type 2b

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 2a1 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 4k
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 2a2 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 Charcot-Marie-Tooth Disease Type 2b5
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 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
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2w Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation

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

(show top 50) (show all 57)
id Related Disease Score Top Affiliating Genes
1 dnm2-related intermediate charcot-marie-tooth neuropathy 11.3
2 charcot-marie-tooth disease, type 2i 10.5 KIF1B MPZ
3 charcot-marie-tooth disease, type 2j 10.5 KIF1B MPZ
4 hereditary proximal myopathy with early respiratory failure 10.4 MPZ PMP22
5 charcot-marie-tooth disease 10.4
6 tooth disease 10.4
7 hemiplegia alterans 10.4 MPZ PMP22
8 transposition of the great arteries, dextro-looped 1 10.4 KIF1B MPZ
9 neuropathy 10.3
10 acute necrotizing encephalitis 10.3 MPZ PMP22
11 interstitial emphysema 10.3 RAB7A SPTLC1
12 charcot-marie-tooth disease, recessive intermediate, a 10.3 KIF1B RAB7A
13 pituitary adenoma, growth hormone-secreting 10.3 MPZ PMP22
14 epidermolysis bullosa acquisita 10.3 MPZ PMP22
15 mohr-tranebjaerg syndrome 10.2 MPZ PMP22
16 transmitted_by 10.2 RAB7A SPTLC1
17 seres-santamaria arimany muniz syndrome 10.2 GJB1 SPTLC1
18 autonomic neuropathy 10.2
19 olmsted syndrome, x-linked 10.1 GJB1 SULT2B1
20 thrombophilia due to antithrombin iii deficiency 10.1 KIF1B MPZ PMP22
21 epileptic encephalopathy, early infantile, 51 10.1 GJB1 KIF1B MPZ
22 woods-black-norbury syndrome 10.0 GJB1 SULT2B1
23 secondary hypertrophic osteoarthropathy 10.0 GJB1 KIF1B PMP22
24 conotruncal heart malformations 10.0 GJB1 MPZ PMP22
25 ampulla of vater mucinous adenocarcinoma 10.0 GJB1 KIF1B PMP22
26 mental retardation, x-linked, syndromic 34 10.0 GJB1 MPZ PMP22
27 charcot-marie-tooth neuropathy x 10.0 GJB1 MPZ PMP22
28 choreatic disease 10.0 MPZ PMP22
29 hypoxia 10.0 GJB1 MPZ PMP22
30 bladder lateral wall cancer 9.9 EGR2 PMP22
31 diffuse large b-cell lymphoma 9.9 MPZ NTRK1 PMP22
32 febrile seizures, familial, 3b 9.8 NTRK1 SPTLC1
33 fissured tongue 9.8 NTRK1 SPTLC1
34 scapuloperoneal spinal muscular atrophy 9.8 GJB1 KIF1B MPZ RAB7A
35 status epilepticus 9.8 MPZ PMP22
36 vernal conjunctivitis 9.8
37 conjunctivitis 9.8
38 lichen planus 9.8
39 oral lichen planus 9.8
40 infantile epileptic encephalopathy 9.7 GJB1 KIF1B MPZ PMP22
41 congestive heart failure 9.6 EGR2 MPZ PMP22
42 senile angioma 9.5 GJB1 MPZ PMP22 SPTLC1
43 charcot-marie-tooth neuropathy type 4j 9.2 EGR2 GJB1 MPZ PMP22
44 pancreatic acinar cell adenocarcinoma 9.2 EGR2 GJB1 MPZ PMP22
45 charcot-marie-tooth disease, type 1e 8.9 EGR2 GJB1 KIF1B MPZ PMP22
46 neuropathy, recurrent, with pressure palsies 8.9 EGR2 GJB1 KIF1B MPZ PMP22
47 decubitus ulcer 8.7 EGR2 GJB1 MPZ PMP22 SPTLC1
48 amnestic disorder 8.6 EGR2 GJB1 KIF1B MPZ PMP22 RAB7A
49 chromosome 16p13.2 deletion syndrome 8.3 EGR2 GJB1 KIF1B MPZ PMP22 SULT2B1
50 charcot-marie-tooth disease, type 1b 8.3 EGR2 GJB1 KIF1B MPZ PMP22 SULT2B1

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



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

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

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Peripheral Nervous System:
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
hyporeflexia
areflexia
'steppage' gait
more
Skin Nails & Hair- Skin:
ulcers, distal, due to sensory neuropathy
ulcers often lead to infection and amputation

Skeletal- Feet:
foot deformities
pes cavus
hammer toes
pes planus
foot callus
more
Skin Nails & Hair- Nails:
dystrophic toenail changes


Clinical features from OMIM:

600882

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

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 hyporeflexia 32 HP:0001265
2 pes cavus 32 HP:0001761
3 areflexia 32 HP:0001284
4 steppage gait 32 HP:0003376
5 pes planus 32 HP:0001763
6 distal muscle weakness 32 HP:0002460
7 distal amyotrophy 32 HP:0003693
8 axonal degeneration/regeneration 32 HP:0003378
9 decreased motor nerve conduction velocity 32 HP:0003431
10 hammertoe 32 HP:0001765
11 dystrophic toenail 32 HP:0001810
12 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
13 foot dorsiflexor weakness 32 HP:0009027
14 peripheral axonal atrophy 32 HP:0003384
15 autoamputation of foot 32 HP:0001868
16 foot osteomyelitis 32 HP:0001886

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 EGR2 GJB1 KIF1B MPZ NTRK1 PMP22
2 mortality/aging MP:0010768 9.56 EGR2 GJB1 KIF1B MPZ NTRK1 PMP22
3 hearing/vestibular/ear MP:0005377 9.33 EGR2 NTRK1 PMP22
4 nervous system MP:0003631 9.17 EGR2 GJB1 KIF1B MPZ NTRK1 PMP22

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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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

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

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

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Axonal, Type 2b 29
2 Charcot-Marie-Tooth Neuropathy Type 2b 24 RAB7A

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

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

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

id Title Authors Year
1
A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci. ( 11801401 )
2002
2
Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family. ( 9219740 )
1997
3
Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B. ( 8659534 )
1996

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

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

71
id Symbol AA change Variation ID SNP ID
1 RAB7A p.Leu129Phe VAR_018722 rs121909078
2 RAB7A p.Val162Met VAR_018723 rs121909079
3 RAB7A p.Lys157Asn VAR_037887 rs121909081
4 RAB7A p.Asn161Thr VAR_037888 rs121909080

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RAB7A NM_004637.5(RAB7A): c.385C> T (p.Leu129Phe) single nucleotide variant Pathogenic rs121909078 GRCh37 Chromosome 3, 128525419: 128525419
2 RAB7A NM_004637.5(RAB7A): c.484G> A (p.Val162Met) single nucleotide variant Pathogenic rs121909079 GRCh37 Chromosome 3, 128526470: 128526470
3 RAB7A NM_004637.5(RAB7A): c.482A> C (p.Asn161Thr) single nucleotide variant Pathogenic rs121909080 GRCh37 Chromosome 3, 128526468: 128526468
4 RAB7A NM_004637.5(RAB7A): c.471G> C (p.Lys157Asn) single nucleotide variant Pathogenic rs121909081 GRCh37 Chromosome 3, 128526457: 128526457

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

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

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

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

id Super pathways Score Top Affiliating Genes
1 10.81 GJB1 MPZ PMP22

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

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

id Name GO ID Score Top Affiliating Genes
1 learning or memory GO:0007611 9.26 EGR2 NTRK1
2 cellular response to nerve growth factor stimulus GO:1990090 9.16 KIF1B NTRK1
3 peripheral nervous system development GO:0007422 8.96 EGR2 PMP22
4 myelination GO:0042552 8.8 EGR2 MPZ PMP22

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

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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