MCID: CHR136
MIFTS: 33

Charcot-Marie-Tooth Disease Type 2b malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Ear diseases, Fetal diseases, Mental diseases, Metabolic diseases categories
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Summaries for Charcot-Marie-Tooth Disease Type 2b

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NIH Rare Diseases:42 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 charcot-marie-tooth disease, axonal, type 2b, is related to charcot-marie-tooth disease and tooth disease, and has symptoms including 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:46 600882

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

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Sources:
42NIH Rare Diseases, 22GTR, 62UMLS, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

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

Name: Charcot-Marie-Tooth Disease Type 2b 42
Charcot-Marie-Tooth Disease, Axonal, Type 2b 42 62
Charcot Marie Tooth Disease Type 2b 42 22
Cmt 2b 42 62
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b 48
 
Peripheral Sensory Neuropathy, Autosomal Dominant 42
Charcot-Marie-Tooth Disease, Neuronal, Type 2b 42
Hereditary Motor and Sensory Neuropathy 2 B 42
Charcot-Marie-Tooth Disease, Type 2b 46
Cmt2b 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
autosomal dominant charcot-marie-tooth disease type 2b:
Inheritance: Autosomal dominant; Age of onset: Adolescence / Young adulthood


External Ids:

OMIM46 600882
ICD10 via Orphanet26 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 Type 2 Charcot-Marie-Tooth Disease Type 1
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 3 Charcot-Marie-Tooth Disease Type 4
Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Neuropathy Type 1
Charcot-Marie-Tooth Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy Type 2a
Charcot-Marie-Tooth Neuropathy Type 2e/1f Charcot-Marie-Tooth Neuropathy Type 4
Charcot-Marie-Tooth Neuropathy Type 4a Charcot-Marie-Tooth Neuropathy Type 4c
Charcot-Marie-Tooth Neuropathy Type 4h Charcot-Marie-Tooth Neuropathy Type 4j
Charcot-Marie-Tooth Neuropathy X Type 1 Charcot-Marie-Tooth Neuropathy X Type 5
Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy 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 1a Charcot-Marie-Tooth Disease Type 1b
Charcot-Marie-Tooth Disease Type 1c Charcot-Marie-Tooth Disease Type 1d
Charcot-Marie-Tooth Disease Type 1f Charcot-Marie-Tooth Disease Type 2a
charcot-marie-tooth disease type 2b Charcot-Marie-Tooth Disease Type 2b1
Charcot-Marie-Tooth Disease Type 2b2 Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease Type 2d Charcot-Marie-Tooth Disease Type 2f
Charcot-Marie-Tooth Disease Type 2g Charcot-Marie-Tooth Disease Type 2h
Charcot-Marie-Tooth Disease Type 2i Charcot-Marie-Tooth Disease Type 2j
Charcot-Marie-Tooth Disease Type 2k Charcot-Marie-Tooth Disease Type 4b1
Charcot-Marie-Tooth Disease Type 4b2 Charcot-Marie-Tooth Neuropathy X
Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Multi-Gene Panels
Charcot-Marie-Tooth Neuropathy Type 4b2 Charcot-Marie-Tooth Neuropathy Type 2b2
Charcot-Marie-Tooth Neuropathy Type 2b1 Charcot-Marie-Tooth Neuropathy Type 2g
Charcot-Marie-Tooth Neuropathy Type 2l Charcot-Marie-Tooth Neuropathy Type 2i/2j
Charcot-Marie-Tooth Neuropathy Type 2h/2k Charcot-Marie-Tooth Neuropathy X Type 2
Charcot-Marie-Tooth Neuropathy X Type 3 Charcot-Marie-Tooth Neuropathy X Type 4
Prps1-Related Charcot-Marie-Tooth Neuropathy X Type 5 Yars-Related Intermediate Charcot-Marie-Tooth Neuropathy
Mpz-Related Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Type 2n
Kars-Related Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Type 2d
Gdap1-Related Intermediate Charcot-Marie-Tooth Neuropathy Charcot-Marie-Tooth Neuropathy Type 2o
Charcot-Marie-Tooth Neuropathy Type 2p Charcot-Marie-Tooth Neuropathy Type 4b3
Charcot-Marie-Tooth Neuropathy Type 1b Charcot-Marie-Tooth Neuropathy Type 1c
Charcot-Marie-Tooth Neuropathy Type 2a2 Charcot-Marie-Tooth Neuropathy Type 2b
Charcot-Marie-Tooth Neuropathy Type 2c Charcot-Marie-Tooth Neuropathy Type 4b1
Charcot-Marie-Tooth Neuropathy Type 4d Charcot-Marie-Tooth Neuropathy Type 4f
Charcot-Marie-Tooth Neuropathy Type 1a Charcot-Marie-Tooth Neuropathy Type 1d
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 2r Charcot-Marie-Tooth Disease, Recessive Intermediate, a
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Recessive Intermediate, B
Charcot-Marie-Tooth Disease, Dominant Intermediate B Charcot-Marie-Tooth Disease, Type 4f
Charcot-Marie-Tooth Disease, Type 4b3 Surf1-Related Charcot-Marie-Tooth Disease Type 4

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 2a110.0
8charcot-marie-tooth disease, type 2a210.0

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 18)
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 distal muscle weakness HP:0002460
12 steppage gait HP:0003376
13 axonal degeneration/regeneration HP:0003378
14 decreased number of peripheral myelinated nerve fibers HP:0003380
15 peripheral axonal atrophy HP:0003384
16 decreased motor nerve conduction velocity HP:0003431
17 distal amyotrophy HP:0003693
18 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 Disease Type 2b22

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

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

32
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:

6
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Charcot-Marie-Tooth Disease Type 2b

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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  • Antibodies
  • Proteins
  • Lysates

Sources for Charcot-Marie-Tooth Disease Type 2b

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet