CMT2B2
MCID: CHR651
MIFTS: 28

Charcot-Marie-Tooth Disease, Axonal, Type 2b2 (CMT2B2)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Axonal, Type 2b2

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, Type 2b2:

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2b2 58 54 41
Charcot-Marie-Tooth Disease Type 2b2 12 77 54 60 30 6 15
Charcot-Marie-Tooth Disease, Type 2b2 58 13 74
Arcmt2b 58 12 76
Cmt2b2 58 12 76
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2 12 60
Charcot-Marie-Tooth Disease, Neuronal, Type 2b2 58 54
Charcot-Marie-Tooth Disease Neuronal Type 2b2 12 76
Charcot-Marie-Tooth Neuropathy Type 2b2 12 76
Autosomal Recessive Axonal Cmt4c3 12 60
Ar-Cmt2b2 12 60
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2 58
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, B2 54
Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2 76
Charcot-Marie-Tooth Disease Axonal Type 2b2 76
Charcot-Marie-Tooth Neuropathy, Type 2b2 58
Charcot Marie Tooth Disease Type 2b2 54
Charcot-Marie-Tooth Disease 2b2 76
Cmt 2b2 54

Characteristics:

Orphanet epidemiological data:

60
charcot-marie-tooth disease type 2b2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
usually begins in feet and legs (peroneal distribution)
may progress to upper limbs
one family has been reported (last curated march 2015)
for autosomal dominant forms of axonal neuropathy, see cmt2a
onset between 28 and 42 years


HPO:

33
charcot-marie-tooth disease, axonal, type 2b2:
Onset and clinical course adult onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110179
OMIM 58 605589
MeSH 45 D002607
ICD10 34 G60.0
MESH via Orphanet 46 C537991
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C1854150
Orphanet 60 ORPHA101101
MedGen 43 C1854150
UMLS 74 C1854150

Summaries for Charcot-Marie-Tooth Disease, Axonal, Type 2b2

OMIM : 58 Charcot-Marie-Tooth (CMT) disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies. On the basis of electrophysiologic criteria, CMT is divided into 2 major types: type 1, the demyelinating form, characterized by a motor median nerve conduction velocity less than 38 m/s (see CMT1B; 118200); and type 2, the axonal form, with a normal or slightly reduced nerve conduction velocity. For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A1 (118210). Autosomal recessive forms of CMT are less frequent than the autosomal dominant or X-linked forms. One form of autosomal recessive axonal CMT (CMT2B1; 605588) is caused by mutation in the LMNA gene (150330) on chromosome 1q21.2-q21.3. (605589)

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2b2, also known as charcot-marie-tooth disease type 2b2, is related to charcot-marie-tooth disease and tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2b2 is MED25 (Mediator Complex Subunit 25). Affiliated tissues include skin, and related phenotypes are decreased motor nerve conduction velocity and areflexia

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous mutation in the MED25 gene.

UniProtKB/Swiss-Prot : 76 Charcot-Marie-Tooth disease 2B2: A recessive 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.

Wikipedia : 77 Charcot–Marie–Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group of... more...

Related Diseases for Charcot-Marie-Tooth Disease, Axonal, Type 2b2

Diseases in the Charcot-Marie-Tooth Disease, Axonal, Type 2e family:

Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2b
Charcot-Marie-Tooth Disease, Axonal, Type 2d Charcot-Marie-Tooth Disease, Axonal, Type 2b1
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Type 2f
Charcot-Marie-Tooth Disease, Axonal, Type 2i Charcot-Marie-Tooth Disease, Axonal, Type 2h
Charcot-Marie-Tooth Disease, Axonal, Type 2j Charcot-Marie-Tooth Disease, Axonal, Type 2k
Charcot-Marie-Tooth Disease, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a
Charcot-Marie-Tooth Disease, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Type 2o
Charcot-Marie-Tooth Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2q
Charcot-Marie-Tooth Disease, Axonal, Type 2r Charcot-Marie-Tooth Disease, Axonal, Type 2u
Charcot-Marie-Tooth Disease, Axonal, Type 2v Charcot-Marie-Tooth Disease, Axonal, Type 2w
Charcot-Marie-Tooth Disease, Axonal, Type 2x Charcot-Marie-Tooth Disease, Axonal, Type 2z
Charcot-Marie-Tooth Disease, Axonal, Type 2cc Charcot-Marie-Tooth Disease, Axonal, Type 2t
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b Charcot-Marie-Tooth Disease, Axonal, Type 2dd
Charcot-Marie-Tooth Disease, Axonal, Type 2ee Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2b2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 29.3 COX6A1 DNAJB2 MED25 TRIM2
2 tooth disease 10.1
3 spastic paraplegia 46, autosomal recessive 9.5 COX6A1 SPG21
4 charcot-marie-tooth disease type 2a2 9.5 COX6A1 DNAJB2 TRIM2
5 charcot-marie-tooth disease intermediate type 9.1 COX6A1 DNAJB2 SPG21 TRIM2
6 charcot-marie-tooth disease, axonal, type 2b1 9.1 COX6A1 DNAJB2 SPG21 TRIM2
7 charcot-marie-tooth disease, axonal, type 2h 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
8 charcot-marie-tooth disease, recessive intermediate d 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
9 spastic paraplegia 55, autosomal recessive 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
10 charcot-marie-tooth disease, axonal, type 2r 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
11 charcot-marie-tooth disease, axonal, type 2p 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
12 amyotrophic lateral sclerosis type 5 8.8 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
13 charcot-marie-tooth disease, axonal, type 2t 8.8 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
14 charcot-marie-tooth disease, axonal, type 2e 8.7 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2b2:



Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2b2

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Axonal, Type 2b2

Human phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2b2:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 decreased motor nerve conduction velocity 33 HP:0003431
2 areflexia 33 HP:0001284
3 hyporeflexia 33 HP:0001265
4 distal muscle weakness 33 HP:0002460
5 distal amyotrophy 33 HP:0003693
6 distal sensory impairment 33 HP:0002936

Symptoms via clinical synopsis from OMIM:

58
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
more

Clinical features from OMIM:

605589

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Axonal, Type 2b2

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Axonal, Type 2b2

Genetic Tests for Charcot-Marie-Tooth Disease, Axonal, Type 2b2

Genetic tests related to Charcot-Marie-Tooth Disease, Axonal, Type 2b2:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 2b2 30 MED25

Anatomical Context for Charcot-Marie-Tooth Disease, Axonal, Type 2b2

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Axonal, Type 2b2:

42
Skin

Publications for Charcot-Marie-Tooth Disease, Axonal, Type 2b2

Articles related to Charcot-Marie-Tooth Disease, Axonal, Type 2b2:

# Title Authors Year
1
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. ( 25488817 )
2009

Variations for Charcot-Marie-Tooth Disease, Axonal, Type 2b2

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2b2:

76
# Symbol AA change Variation ID SNP ID
1 MED25 p.Ala335Val VAR_063521 rs145770066

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2b2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MED25 NM_030973.3(MED25): c.1004C> T (p.Ala335Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145770066 GRCh37 Chromosome 19, 50334047: 50334047
2 MED25 NM_030973.3(MED25): c.1004C> T (p.Ala335Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145770066 GRCh38 Chromosome 19, 49830790: 49830790
3 MED25 NM_030973.3(MED25): c.1438C> G (p.Leu480Val) single nucleotide variant Uncertain significance rs148214958 GRCh37 Chromosome 19, 50335628: 50335628
4 MED25 NM_030973.3(MED25): c.1438C> G (p.Leu480Val) single nucleotide variant Uncertain significance rs148214958 GRCh38 Chromosome 19, 49832371: 49832371
5 MED25 NM_030973.3(MED25): c.1483-7C> T single nucleotide variant Benign rs2017698 GRCh38 Chromosome 19, 49834979: 49834979
6 MED25 NM_030973.3(MED25): c.1483-7C> T single nucleotide variant Benign rs2017698 GRCh37 Chromosome 19, 50338236: 50338236

Expression for Charcot-Marie-Tooth Disease, Axonal, Type 2b2

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, Type 2b2.

Pathways for Charcot-Marie-Tooth Disease, Axonal, Type 2b2

GO Terms for Charcot-Marie-Tooth Disease, Axonal, Type 2b2

Sources for Charcot-Marie-Tooth Disease, Axonal, Type 2b2

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17 EFO
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35 ICD10 via Orphanet
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46 MESH via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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