MCID: CHR530
MIFTS: 33

Charcot-Marie-Tooth Disease, Type 2b 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

About this section

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

Name: Charcot-Marie-Tooth Disease, Type 2b 49 11
Cmt2b 22 51 67
Charcot-Marie-Tooth Disease, Axonal, Type 2b 45 65
Charcot-Marie-Tooth Neuropathy Type 2b 22 67
Charcot-Marie-Tooth Disease 2b 67 24
Cmt 2b 45 22
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b 51
Peripheral Sensory Neuropathy, Autosomal Dominant 45
Peripheral Sensory Neuropathy Autosomal Dominant 67
Charcot-Marie-Tooth Disease, Neuronal, Type 2b 45
 
Charcot-Marie-Tooth Disease Neuronal Type 2b 67
Hereditary Motor and Sensory Neuropathy Iib 67
Hereditary Motor and Sensory Neuropathy 2 B 45
Charcot-Marie-Tooth Disease Axonal Type 2b 67
Charcot-Marie-Tooth Disease Type 2b 45
Charcot Marie Tooth Disease Type 2b 45
Hmsn Iib 67
Hmsn2b 67
Psn 67

Characteristics:

Orphanet epidemiological data:

51
cmt2b:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult

HPO:

61
charcot-marie-tooth disease, type 2b:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 600882
Orphanet51 99936
ICD10 via Orphanet28 G60.0
MedGen34 C1833219
UMLS65 C1833219

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

About this section
UniProtKB/Swiss-Prot:67 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 neuropathy, and has symptoms including foot dorsiflexor weakness, distal amyotrophy and decreased motor nerve conduction velocity. An important gene associated with Charcot-Marie-Tooth Disease, Type 2b is RAB7A (RAB7A, Member RAS Oncogene Family). Affiliated tissues include brain, lung and endothelial.

NIH Rare Diseases:45 Charcot-marie-tooth disease type 2b (cmt2b) affects the peripheral nerves, the nerves running from outside the brain and spine. common signs and symptoms include slowly progressive weakness and numbness in the feet, lower leg muscles, hands, and forearms. this type of cmt is also associated with the formation of ulcers in the hands and feet. symptoms may start in childhood to early adulthood, although later onset (>50 years) has also been described. symptoms of cmt2b vary but tend to be similar to that of cmt type 1. cmt2b is caused by changes in the rab7a gene. it is inherited in an autosomal dominant fashion. last updated: 9/9/2013

Description from OMIM:49 600882

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

About this section

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 Type X
Charcot-Marie-Tooth Disease Intermediate Type Charcot-Marie-Tooth Disease Type 5
Charcot-Marie-Tooth Disease Type 7 Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type a Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type a Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B
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 2h 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 2p
Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2v Surf1-Related Charcot-Marie-Tooth Disease Type 4
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation
Charcot-Marie-Tooth Disease Type 2t Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Vcp Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2k Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d

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

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1dnm2-related intermediate charcot-marie-tooth neuropathy11.4
2charcot-marie-tooth neuropathy11.0
3charcot-marie-tooth disease10.5
4tooth disease10.5
5neuropathy10.5
6hereditary sensory neuropathy10.3
7autonomic neuropathy10.3
8charcot-marie-tooth disease, type 2a110.0
9vernal conjunctivitis9.9
10conjunctivitis9.9
11lichen planus9.9
12oral lichen planus9.9
13charcot-marie-tooth neuropathy dominant intermediate e9.5CMT2B, RAB7A
14charcot-marie-tooth disease, type 2b9.3CMT2B, RAB7A

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



Diseases related to charcot-marie-tooth disease, type 2b

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

About this section

Symptoms by clinical synopsis from OMIM:

600882

Clinical features from OMIM:

600882

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

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

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


gait, drop foot

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

About this section

Interventional clinical trials:

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

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

About this section

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

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy Type 2b22 RAB7A

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

About this section

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Type 2b:

33
Brain, Lung, Endothelial

Animal Models for Charcot-Marie-Tooth Disease, Type 2b or affiliated genes

About this section

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

About this section

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

About this section

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

67
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)single nucleotide variantPathogenicrs121909078GRCh37Chr 3, 128525419: 128525419
2RAB7ANM_004637.5(RAB7A): c.484G> A (p.Val162Met)single nucleotide variantPathogenicrs121909079GRCh37Chr 3, 128526470: 128526470
3RAB7ANM_004637.5(RAB7A): c.482A> C (p.Asn161Thr)single nucleotide variantPathogenicrs121909080GRCh37Chr 3, 128526468: 128526468
4RAB7ANM_004637.5(RAB7A): c.471G> C (p.Lys157Asn)single nucleotide variantPathogenicrs121909081GRCh37Chr 3, 128526457: 128526457

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

About this section
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

About this section

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

About this section

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

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet