CMT2B
MCID: CHR530
MIFTS: 40

Charcot-Marie-Tooth Disease, Type 2b (CMT2B) malady

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

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

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

Name: Charcot-Marie-Tooth Disease, Type 2b 52 12
Cmt2b 11 24 54 70
Charcot-Marie-Tooth Disease, Axonal, Type 2b 52 48 68
Charcot-Marie-Tooth Neuropathy Type 2b 11 24 70
Charcot-Marie-Tooth Disease Type 2b 11 48 13
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b 11 54
Charcot-Marie-Tooth Disease Axonal Type 2b 70 27
Hmsn Iib 11 70
Hmsn2b 11 70
Cmt 2b 48 24
 
Peripheral Sensory Neuropathy, Autosomal Dominant 48
Peripheral Sensory Neuropathy Autosomal Dominant 70
Charcot-Marie-Tooth Disease, Neuronal, Type 2b 48
Charcot-Marie-Tooth Disease Neuronal Type 2b 70
Hereditary Motor and Sensory Neuropathy Iib 70
Hereditary Motor and Sensory Nueropathy Iib 11
Hereditary Motor and Sensory Neuropathy 2 B 48
Charcot Marie Tooth Disease Type 2b 48
Charcot-Marie-Tooth Disease 2b 70
Psn 70

Characteristics:

Orphanet epidemiological data:

54
cmt2b:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult

HPO:

64
charcot-marie-tooth disease, type 2b:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 600882
Disease Ontology11 DOID:0110159
ICD1030 G60.0
Orphanet54 ORPHA99936
ICD10 via Orphanet31 G60.0
MedGen37 C1833219

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

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UniProtKB/Swiss-Prot:70 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 2a1, and has symptoms including hyporeflexia, areflexia and pes cavus. An important gene associated with Charcot-Marie-Tooth Disease, Type 2b is RAB7A (RAB7A, Member RAS Oncogene Family), and among its related pathways is Neural Crest Differentiation. Related mouse phenotypes are behavior/neurological and mortality/aging.

Disease Ontology:11 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the RAB7 gene on chromosome 3q21.

NIH Rare Diseases:48 Charcot-marie-tooth disease type 2b (cmt2b) is an inherited peripheral 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

Description from OMIM:52 600882

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

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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 2b via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1dnm2-related intermediate charcot-marie-tooth neuropathy11.3
2charcot-marie-tooth disease, type 2a110.8
3charcot-marie-tooth disease10.4
4tooth disease10.4
5neuropathy10.3
6charcot-marie-tooth disease, type 2i10.2KIF1B, MPZ
7charcot-marie-tooth disease, dominant intermediate d10.2KIF1B, MPZ
8aortic aneurysm, familial thoracic 410.2KIF1B, MPZ
9hereditary type 2 neuropathy10.2MPZ, PMP22
10mitochondrial complex v deficiency, nuclear type 210.2KIF1B, RAB7A
11craniorachischisis10.2MPZ, PMP22
12hypertonia10.2MPZ, PMP22
13methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type10.2KIF1B, MPZ
14hereditary sensory neuropathy10.2
15autonomic neuropathy10.2
16spermatogenic failure, x-linked, 210.2GJB1, MPZ
17von economo's disease10.1MPZ, PMP22
18compensatory emphysema10.1RAB7A, SPTLC1
19pituitary adenoma, prolactin-secreting10.1MPZ, PMP22
20severe intellectual disability-progressive spastic diplegia syndrome10.1GJB1, SPTLC1
21partington syndrome10.1GJB1, SULT2B1
22benjamin syndrome10.1RAB7A, SPTLC1
23mohr-tranebjaerg syndrome10.1MPZ, PMP22
24lowe syndrome10.1GJB1, SULT2B1
25non-gestational choriocarcinoma10.1MPZ, PMP22
26williams-beuren syndrome10.1GJB1, KIF1B, MPZ
27surfactant metabolism dysfunction, pulmonary, 210.0GJB1, MPZ, PMP22
28korsakoff's amnesic syndrome10.0GJB1, MPZ, PMP22
29uterine ligament serous adenocarcinoma10.0GJB1, MPZ, PMP22
30choreatic disease10.0MPZ, PMP22
31walker-warburg syndrome10.0NTRK1, SPTLC1
32bladder lateral wall cancer10.0EGR2, PMP22
33dilated cardiomyopathy10.0MPZ, NTRK1, PMP22
34substance-induced psychosis10.0GJB1, MPZ, PMP22
35fissured tongue10.0NTRK1, SPTLC1
36parastremmatic dwarfism9.9GJB1, KIF1B, MPZ, RAB7A
37status epilepticus9.9MPZ, PMP22
38pneumonic plague9.9GJB1, KIF1B, MPZ, PMP22
39acute sanguinous otitis media9.9GJB1, KIF1B, MPZ, PMP22
40dejerine-sottas disease9.9GJB1, KIF1B, MPZ, PMP22
41infantile epileptic encephalopathy9.9GJB1, KIF1B, MPZ, PMP22
42thrombophilia due to antithrombin iii deficiency9.9GJB1, KIF1B, MPZ, PMP22
43conotruncal heart malformations9.9GJB1, KIF1B, MPZ, PMP22
44auriculocondylar syndrome 19.9NTRK1, SPTLC1, SULT2B1
45vernal conjunctivitis9.8
46conjunctivitis9.8
47lichen planus9.8
48oral lichen planus9.8
49chrna1-related congenital myasthenic syndrome9.7EGR2, GJB1, MPZ, PMP22
50deafness, autosomal recessive 769.7EGR2, GJB1, MPZ, PMP22

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

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Symptoms by clinical synopsis from OMIM:

600882

Clinical features from OMIM:

600882

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

 64 (show all 16)
id Description HPO Frequency HPO Source Accession
1 hyporeflexia64 HP:0001265
2 areflexia64 HP:0001284
3 pes cavus64 HP:0001761
4 pes planus64 HP:0001763
5 hammertoe64 HP:0001765
6 dystrophic toenail64 HP:0001810
7 autoamputation of foot64 HP:0001868
8 foot osteomyelitis64 HP:0001886
9 distal muscle weakness64 HP:0002460
10 steppage gait64 HP:0003376
11 axonal degeneration/regeneration64 HP:0003378
12 decreased number of peripheral myelinated nerve fibers64 HP:0003380
13 peripheral axonal atrophy64 HP:0003384
14 decreased motor nerve conduction velocity64 HP:0003431
15 distal amyotrophy64 HP:0003693
16 foot dorsiflexor weakness64 HP:0009027

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.8EGR2, GJB1, KIF1B, MPZ, NTRK1, PMP22
2MP:00107687.5EGR2, GJB1, KIF1B, MPZ, NTRK1, PMP22
3MP:00036317.0EGR2, GJB1, KIF1B, MPZ, NTRK1, PMP22

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

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Interventional clinical trials:

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

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

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

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Axonal, Type 2b27
2 Charcot-Marie-Tooth Neuropathy Type 2b24 RAB7A

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

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

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

idTitleAuthorsYear
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

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

70
id Symbol AA change Variation ID SNP ID
1RAB7Ap.Leu129PheVAR_018722rs121909078
2RAB7Ap.Val162MetVAR_018723rs121909079
3RAB7Ap.Lys157AsnVAR_037887rs121909081
4RAB7Ap.Asn161ThrVAR_037888rs121909080

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1RAB7ANM_ 004637.5(RAB7A): c.385C> T (p.Leu129Phe)SNVPathogenicrs121909078GRCh37Chr 3, 128525419: 128525419
2RAB7ANM_ 004637.5(RAB7A): c.484G> A (p.Val162Met)SNVPathogenicrs121909079GRCh37Chr 3, 128526470: 128526470
3RAB7ANM_ 004637.5(RAB7A): c.482A> C (p.Asn161Thr)SNVPathogenicrs121909080GRCh37Chr 3, 128526468: 128526468
4RAB7ANM_ 004637.5(RAB7A): c.471G> C (p.Lys157Asn)SNVPathogenicrs121909081GRCh37Chr 3, 128526457: 128526457

Expression for genes affiliated with Charcot-Marie-Tooth Disease, Type 2b

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

Pathways for genes affiliated with Charcot-Marie-Tooth Disease, Type 2b

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

idSuper pathwaysScoreTop Affiliating Genes
19.2GJB1, MPZ, PMP22

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

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

idNameGO IDScoreTop Affiliating Genes
1cellular response to nerve growth factor stimulusGO:199009010.2KIF1B, NTRK1
2learning or memoryGO:00076119.6EGR2, NTRK1
3peripheral nervous system developmentGO:00074229.2EGR2, PMP22
4myelinationGO:00425529.2EGR2, MPZ, PMP22

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet