CMT2B2
MCID: CHR651
MIFTS: 31

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 57 53 40
Charcot-Marie-Tooth Disease Type 2b2 12 75 53 59 29 6 15
Charcot-Marie-Tooth Disease, Type 2b2 57 13 72
Arcmt2b 57 12 74
Cmt2b2 57 12 74
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2 12 59
Charcot-Marie-Tooth Disease, Neuronal, Type 2b2 57 53
Charcot-Marie-Tooth Disease Neuronal Type 2b2 12 74
Charcot-Marie-Tooth Neuropathy Type 2b2 12 74
Autosomal Recessive Axonal Cmt4c3 12 59
Ar-Cmt2b2 12 59
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2 57
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, B2 53
Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2 74
Charcot-Marie-Tooth Disease Axonal Type 2b2 74
Charcot-Marie-Tooth Neuropathy, Type 2b2 57
Charcot Marie Tooth Disease Type 2b2 53
Charcot-Marie-Tooth Disease 2b2 74
Cmt 2b2 53

Characteristics:

Orphanet epidemiological data:

59
charcot-marie-tooth disease type 2b2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
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:

32
charcot-marie-tooth disease, axonal, type 2b2:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110179
MeSH 44 D002607
ICD10 33 G60.0
MESH via Orphanet 45 C537991
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 73 C1854150
Orphanet 59 ORPHA101101
MedGen 42 C1854150
UMLS 72 C1854150

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

OMIM : 57 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 charcot-marie-tooth disease, demyelinating, type 1a. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2b2 is MED25 (Mediator Complex Subunit 25). Related phenotypes are areflexia and decreased motor nerve conduction velocity

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

UniProtKB/Swiss-Prot : 74 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 : 75 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 27)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 28.8 TRIM2 MED25 DNAJB2 COX6A1
2 charcot-marie-tooth disease, demyelinating, type 1a 10.2
3 sensory peripheral neuropathy 10.2
4 muscular atrophy 10.2
5 ataxia and polyneuropathy, adult-onset 10.1
6 microcephaly, seizures, and developmental delay 10.1
7 ataxia-oculomotor apraxia 4 10.1
8 apraxia 10.1
9 tooth disease 10.1
10 peripheral nervous system disease 10.1
11 axonal neuropathy 10.1
12 neuropathy 10.1
13 microcephaly 10.1
14 obsolete: microcephaly-seizures-developmental delay syndrome 10.1
15 oculomotor apraxia 10.1
16 spastic paraplegia 46, autosomal recessive 9.3 SPG21 COX6A1
17 charcot-marie-tooth disease type 2a2 9.1 TRIM2 DNAJB2 COX6A1
18 charcot-marie-tooth disease intermediate type 8.6 TRIM2 SPG21 DNAJB2 COX6A1
19 charcot-marie-tooth disease, axonal, type 2b1 8.5 TRIM2 SPG21 DNAJB2 COX6A1
20 charcot-marie-tooth disease, recessive intermediate d 8.2 TRIM2 SPG21 DNAJB2 COX6A1 C12orf65
21 charcot-marie-tooth disease, axonal, type 2h 8.2 TRIM2 SPG21 DNAJB2 COX6A1 C12orf65
22 charcot-marie-tooth disease, axonal, type 2r 8.2 TRIM2 SPG21 DNAJB2 COX6A1 C12orf65
23 spastic paraplegia 55, autosomal recessive 8.2 TRIM2 SPG21 DNAJB2 COX6A1 C12orf65
24 charcot-marie-tooth disease, axonal, type 2p 8.2 TRIM2 SPG21 DNAJB2 COX6A1 C12orf65
25 amyotrophic lateral sclerosis type 5 8.1 TRIM2 SPG21 DNAJB2 COX6A1 C12orf65
26 charcot-marie-tooth disease, axonal, type 2t 8.1 TRIM2 SPG21 DNAJB2 COX6A1 C12orf65
27 charcot-marie-tooth disease, axonal, type 2e 8.0 TRIM2 SPG21 DNAJB2 COX6A1 C12orf65

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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 areflexia 32 HP:0001284
2 decreased motor nerve conduction velocity 32 HP:0003431
3 hyporeflexia 32 HP:0001265
4 distal amyotrophy 32 HP:0003693
5 distal muscle weakness 32 HP:0002460
6 distal sensory impairment 32 HP:0002936

Symptoms via clinical synopsis from OMIM:

57
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 29 MED25

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

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

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

# Title Authors PMID 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. 38 8
19290556 2009
2
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. 38 71
25488817 2009
3
Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3. 8
15099588 2004
4
A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3. 8
11112660 2001
5
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 71
20301532 1998
6
Charcot-Marie-Tooth Neuropathy Type 2 71
20301462 1998
7
The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25. 38
30039206 2018
8
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 38
26556829 2016
9
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families. 38
17347251 2007

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

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MED25 NM_030973.3(MED25): c.1004C> T (p.Ala335Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145770066 19:50334047-50334047 19:49830790-49830790
2 MED25 NM_030973.3(MED25): c.1438C> G (p.Leu480Val) single nucleotide variant Uncertain significance rs148214958 19:50335628-50335628 19:49832371-49832371
3 MED25 NM_030973.3(MED25): c.1482+1G> A single nucleotide variant Uncertain significance 19:50335673-50335673 19:49832416-49832416
4 MED25 NM_030973.3(MED25): c.1483-7C> T single nucleotide variant Benign rs2017698 19:50338236-50338236 19:49834979-49834979

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

74
# Symbol AA change Variation ID SNP ID
1 MED25 p.Ala335Val VAR_063521 rs145770066

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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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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