CMT2B2
MCID: CHR651
MIFTS: 37

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 56 52 39
Charcot-Marie-Tooth Disease Type 2b2 12 74 52 58 29 6 15
Charcot-Marie-Tooth Disease, Type 2b2 56 13 71
Arcmt2b 56 12 73
Cmt2b2 56 12 73
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2 12 58
Charcot-Marie-Tooth Disease, Neuronal, Type 2b2 56 52
Charcot-Marie-Tooth Disease Neuronal Type 2b2 12 73
Charcot-Marie-Tooth Neuropathy Type 2b2 12 73
Autosomal Recessive Axonal Cmt4c3 12 58
Ar-Cmt2b2 12 58
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2 56
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, B2 52
Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2 73
Charcot-Marie-Tooth Disease Axonal Type 2b2 73
Charcot-Marie-Tooth Neuropathy, Type 2b2 56
Charcot Marie Tooth Disease Type 2b2 52
Charcot-Marie-Tooth Disease 2b2 73
Cmt 2b2 52

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease type 2b2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
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:

31
charcot-marie-tooth disease, axonal, type 2b2:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110179
OMIM 56 605589
OMIM Phenotypic Series 56 PS118220
MeSH 43 D002607
ICD10 32 G60.0
MESH via Orphanet 44 C537991
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C1854150
Orphanet 58 ORPHA101101
MedGen 41 C1854150
UMLS 71 C1854150

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

OMIM : 56 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 sensory peripheral neuropathy 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). Affiliated tissues include skin, and 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 : 73 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 : 74 Charcot-Marie-Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies of the... 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 top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 sensory peripheral neuropathy 30.0 MPZ MFN2 KIF1B GDAP1
2 charcot-marie-tooth disease, demyelinating, type 1a 29.7 NEFL MPZ MFN2 KIF1B GDAP1
3 peripheral nervous system disease 29.5 NEFL MPZ MFN2 KIF1B GDAP1
4 axonal neuropathy 29.3 TRIM2 NEFL MFN2 GDAP1
5 neuropathy 29.1 TRIM2 NEFL MPZ MFN2 GDAP1
6 tooth disease 27.3 TRIM2 NEFL MPZ MFN2 MED25 LRSAM1
7 charcot-marie-tooth disease 26.1 TRIM2 NEFL MPZ MFN2 MED25 LRSAM1
8 argyll robertson pupil 10.4 MPZ GDAP1
9 abnormal pupillary function 10.4 MPZ GDAP1
10 pupil disease 10.4 MPZ GDAP1
11 charcot-marie-tooth disease, dominant intermediate a 10.4 MPZ GDAP1
12 charcot-marie-tooth disease, dominant intermediate e 10.3 MPZ GDAP1
13 charcot-marie-tooth disease, demyelinating, type 4f 10.3 MPZ GDAP1
14 charcot-marie-tooth disease type 2a 10.3 MFN2 KIF1B
15 charcot-marie-tooth disease, axonal, type 2k 10.3 GDAP1 DNAJB2
16 charcot-marie-tooth disease, dominant intermediate c 10.2 MPZ GDAP1
17 charcot-marie-tooth disease, dominant intermediate d 10.2 MPZ KIF1B
18 charcot-marie-tooth disease, dominant intermediate b 10.2 MPZ GDAP1
19 charcot-marie-tooth neuropathy type 2a 10.2 MFN2 KIF1B
20 muscular atrophy 10.2
21 charcot-marie-tooth disease, type 4h 10.2 MPZ GDAP1
22 charcot-marie-tooth disease, type 4b2 10.1 MPZ GDAP1
23 charcot-marie-tooth disease, recessive intermediate a 10.1 MFN2 GDAP1 DNAJB2
24 ataxia and polyneuropathy, adult-onset 10.1
25 microcephaly, seizures, and developmental delay 10.1
26 ataxia-oculomotor apraxia 4 10.1
27 apraxia 10.1
28 microcephaly 10.1
29 obsolete: microcephaly-seizures-developmental delay syndrome 10.1
30 oculomotor apraxia 10.1
31 charcot-marie-tooth disease, type 4d 10.1 MPZ GDAP1
32 charcot-marie-tooth disease, demyelinating, type 1d 10.1 MPZ KIF1B GDAP1
33 hereditary neuropathies 10.1 MPZ MFN2 DNAJB2
34 neuropathy, hereditary motor and sensory, type via, with optic atrophy 10.1 MFN2 C12orf65
35 charcot-marie-tooth disease, demyelinating, type 1f 10.1 NEFL MPZ LRSAM1
36 motor peripheral neuropathy 10.1 NEFL GDAP1 DNAJB2
37 charcot-marie-tooth disease, axonal, type 2cc 10.0 NEFL MPZ MFN2
38 charcot-marie-tooth disease, axonal, type 2n 10.0 MFN2 KIF1B GDAP1
39 charcot-marie-tooth disease, type 4b1 10.0 MPZ GDAP1
40 hereditary spastic paraplegia 72 10.0 SPG21 C12orf65
41 neuropathy, hereditary sensory, type iic 10.0 SPG21 C12orf65
42 spastic paraplegia 63, autosomal recessive 10.0 SPG21 C12orf65
43 polyneuropathy 9.9 MPZ MFN2 GDAP1
44 spastic paraplegia 54, autosomal recessive 9.9 SPG21 CYP2U1
45 spastic paraplegia 49, autosomal recessive 9.9 SPG21 CYP2U1
46 spastic paraplegia 56, autosomal recessive 9.9 SPG21 CYP2U1
47 spastic paraplegia 46, autosomal recessive 9.9 SPG21 CYP2U1
48 charcot-marie-tooth disease type x 9.8 MPZ MFN2 KIF1B GDAP1
49 charcot-marie-tooth disease, x-linked dominant, 1 9.8 MPZ MFN2 KIF1B GDAP1
50 charcot-marie-tooth disease, demyelinating, type 1b 9.8 MPZ MFN2 KIF1B GDAP1

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 areflexia 31 HP:0001284
2 decreased motor nerve conduction velocity 31 HP:0003431
3 hyporeflexia 31 HP:0001265
4 distal amyotrophy 31 HP:0003693
5 distal muscle weakness 31 HP:0002460
6 distal sensory impairment 31 HP:0002936

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2b2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 COX6A1 CYP2U1 GDAP1 KIF1B LRSAM1 MED25
2 nervous system MP:0003631 9.23 COX6A1 GDAP1 KIF1B LRSAM1 MFN2 MPZ

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

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

40
Skin

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. 61 56
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. 61 6
25488817 2009
3
Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3. 56
15099588 2004
4
A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3. 56
11112660 2001
5
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
6
Charcot-Marie-Tooth Neuropathy Type 2 6
20301462 1998
7
Novel MFN2 Missense Mutation Induces Hereditary Axonal Motor and Sensory Neuropathy in a Saudi Arabian Family. 61
31453851 2019
8
The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25. 61
30039206 2018
9
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 61
26556829 2016
10
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families. 61
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MED25 NM_030973.3(MED25):c.1004C>T (p.Ala335Val)SNV Conflicting interpretations of pathogenicity 1324 rs145770066 19:50334047-50334047 19:49830790-49830790
2 MED25 NM_030973.3(MED25):c.1482+1G>ASNV Uncertain significance 632320 rs1568624159 19:50335673-50335673 19:49832416-49832416
3 MED25 NM_030973.3(MED25):c.1438C>G (p.Leu480Val)SNV Uncertain significance 216779 rs148214958 19:50335628-50335628 19:49832371-49832371
4 MED25 NM_030973.3(MED25):c.1483-7C>TSNV Benign 221177 rs2017698 19:50338236-50338236 19:49834979-49834979

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

73
# 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

Biological processes related to Charcot-Marie-Tooth Disease, Axonal, Type 2b2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anterograde axonal transport GO:0008089 9.16 NEFL KIF1B
2 protein targeting to mitochondrion GO:0006626 8.96 MFN2 GDAP1
3 mitochondrial fusion GO:0008053 8.62 MFN2 GDAP1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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