MCID: CHR530
MIFTS: 34

Charcot-Marie-Tooth Disease, Type 2b malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Fetal diseases, Ear diseases, Metabolic diseases categories

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

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NIH Rare Diseases:43 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

MalaCards based summary: Charcot-Marie-Tooth Disease, Type 2b, also known as autosomal dominant charcot-marie-tooth disease type 2b, is related to charcot-marie-tooth disease and tooth disease, and has symptoms including autosomal dominant inheritance, hyporeflexia and areflexia. An important gene associated with Charcot-Marie-Tooth Disease, Type 2b is CMT2B (Charcot-Marie-Tooth neuropathy 2B). Affiliated tissues include brain.

Description from OMIM:47 600882

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

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 49Orphanet, 24GTR, 22GeneTests, 28ICD10 via Orphanet
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Charcot-Marie-Tooth Disease, Type 2b, Aliases & Descriptions:

Name: Charcot-Marie-Tooth Disease, Type 2b 47 11
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b 43 49
Charcot-Marie-Tooth Disease, Axonal, Type 2b 47 43
Charcot Marie Tooth Disease Type 2b 43 24
Cmt2b 43 49
Peripheral Sensory Neuropathy, Autosomal Dominant 43
 
Charcot-Marie-Tooth Disease, Neuronal, Type 2b 43
Hereditary Motor and Sensory Neuropathy 2 B 43
Charcot-Marie-Tooth Neuropathy Type 2b 22
Charcot-Marie-Tooth Disease Type 2b 43
Cmt 2b 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
autosomal dominant charcot-marie-tooth disease type 2b:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult


External Ids:

OMIM47 600882
Orphanet49 99936
ICD10 via Orphanet28 G60.0

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, Recessive Intermediate C Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Type 4c Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4d
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, Dominant Intermediate B Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease, Type 2a2
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 2d Charcot-Marie-Tooth Disease, Type 2e
Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Disease, Recessive Intermediate, a
Charcot-Marie-Tooth Disease, Type 1d 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, Type 4f
Charcot-Marie-Tooth Disease, Type 2b2 Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease Intermediate Type Charcot-Marie-Tooth Disease Dominant Intermediate 1
Charcot-Marie-Tooth Disease Dominant Intermediate 2 Charcot-Marie-Tooth Disease Dominant Intermediate 3
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
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type a
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q 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 2o
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2p Surf1-Related Charcot-Marie-Tooth Disease Type 4
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Mars Mutation 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 Dominant Charcot-Marie-Tooth Disease Type 2a2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c

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

idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease10.7
2tooth disease10.7
3neuropathy10.6
4autonomic neuropathy10.5
5hereditary sensory neuropathy10.5
6dnm2-related intermediate charcot-marie-tooth neuropathy10.5
7charcot-marie-tooth disease, type 2a110.1

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

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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 17)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hyporeflexia HP:0001265
3 areflexia HP:0001284
4 pes cavus HP:0001761
5 pes planus HP:0001763
6 hammertoe HP:0001765
7 dystrophic toenail HP:0001810
8 autoamputation (feet) HP:0001868
9 osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) HP:0001886
10 distal muscle weakness HP:0002460
11 steppage gait HP:0003376
12 axonal degeneration/regeneration HP:0003378
13 decreased number of peripheral myelinated nerve fibers HP:0003380
14 peripheral axonal atrophy HP:0003384
15 decreased motor nerve conduction velocity HP:0003431
16 distal amyotrophy HP:0003693
17 foot dorsiflexor weakness HP:0009027

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

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Drug clinical trials:

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

Search 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 Neuropathy Type 2b22 RAB7A
2 Charcot-Marie-Tooth Disease Type 2b24

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

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

33
Brain

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

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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:

64
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:

7
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

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

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

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

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

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet