MCID: CHR526
MIFTS: 25

Charcot-Marie-Tooth Disease, Type 2b1 malady

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Type 2b1

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 48Orphanet, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Charcot-Marie-Tooth Disease, Type 2b1:

Name: Charcot-Marie-Tooth Disease, Type 2b1 46 9
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1 42 48
Charcot-Marie-Tooth Disease, Axonal, Type 2b1 46 42
Charcot Marie Tooth Disease Type 2b1 42 22
Charcot-Marie-Tooth Disease Type 2b1 42 48
 
Autosomal Recessive Axonal Cmt4c1 42 48
Ar-Cmt2b1 42 48
Charcot-Marie-Tooth Disease, Neuronal, Type 2b1 42
Charcot-Marie-Tooth Neuropathy Type 2b1 20
Cmt 2b1 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
autosomal recessive charcot-marie-tooth disease type 2b1:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

OMIM46 605588
Orphanet48 98856
MESH via Orphanet34 C537990
ICD10 via Orphanet26 G60.0
UMLS via Orphanet62 C1854154

Summaries for Charcot-Marie-Tooth Disease, Type 2b1

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OMIM:46 Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and... (605588) more...

MalaCards based summary: Charcot-Marie-Tooth Disease, Type 2b1, is also known as autosomal recessive charcot-marie-tooth disease type 2b1, and has symptoms including autosomal recessive inheritance, hyporeflexia and areflexia. An important gene associated with Charcot-Marie-Tooth Disease, Type 2b1 is LMNA (lamin A/C).

Related Diseases for Charcot-Marie-Tooth Disease, Type 2b1

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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

Symptoms for Charcot-Marie-Tooth Disease, Type 2b1

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Symptoms by clinical synopsis from OMIM:

605588

Clinical features from OMIM:

605588

HPO human phenotypes related to Charcot-Marie-Tooth Disease, Type 2b1:

(show all 18)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hyporeflexia HP:0001265
3 areflexia HP:0001284
4 pes cavus HP:0001761
5 distal muscle weakness HP:0002460
6 kyphoscoliosis HP:0002751
7 distal sensory impairment HP:0002936
8 steppage gait HP:0003376
9 axonal degeneration/regeneration HP:0003378
10 decreased number of peripheral myelinated nerve fibers HP:0003380
11 onion bulb formation HP:0003383
12 peripheral axonal atrophy HP:0003384
13 decreased motor nerve conduction velocity HP:0003431
14 upper limb muscle weakness HP:0003484
15 onset HP:0003674
16 distal amyotrophy HP:0003693
17 proximal muscle weakness HP:0003701
18 foot dorsiflexor weakness HP:0009027

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Type 2b1

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Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Disease, Type 2b1

Search NIH Clinical Center for Charcot-Marie-Tooth Disease, Type 2b1

Genetic Tests for Charcot-Marie-Tooth Disease, Type 2b1

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Genetic tests related to Charcot-Marie-Tooth Disease, Type 2b1:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy Type 2b120 LMNA
2 Charcot-Marie-Tooth Disease Type 2b122

Anatomical Context for Charcot-Marie-Tooth Disease, Type 2b1

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Animal Models for Charcot-Marie-Tooth Disease, Type 2b1 or affiliated genes

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Publications for Charcot-Marie-Tooth Disease, Type 2b1

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Variations for Charcot-Marie-Tooth Disease, Type 2b1

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UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Type 2b1:

63
id Symbol AA change Variation ID SNP ID
1LMNAp.Arg298CysVAR_017661

Clinvar genetic disease variations for Charcot-Marie-Tooth Disease, Type 2b1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_005572.3(LMNA): c.892C> T (p.Arg298Cys)single nucleotide variantPathogenicrs59885338GRCh37Chr 1, 156105059: 156105059

Expression for genes affiliated with Charcot-Marie-Tooth Disease, Type 2b1

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Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Type 2b1.

Pathways for genes affiliated with Charcot-Marie-Tooth Disease, Type 2b1

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Compounds for genes affiliated with Charcot-Marie-Tooth Disease, Type 2b1

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GO Terms for genes affiliated with Charcot-Marie-Tooth Disease, Type 2b1

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Sources for Charcot-Marie-Tooth Disease, Type 2b1

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet