MCID: CHR651
MIFTS: 27

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

Categories: Genetic diseases, Rare diseases, Neuronal 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 53 59 29 6 15
Charcot-Marie-Tooth Disease, Type 2b2 57 13 73
Arcmt2b 57 12 75
Cmt2b2 57 12 75
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 75
Charcot-Marie-Tooth Neuropathy Type 2b2 12 75
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 75
Charcot-Marie-Tooth Disease Axonal Type 2b2 75
Charcot-Marie-Tooth Neuropathy, Type 2b2 57
Charcot Marie Tooth Disease Type 2b2 53
Charcot-Marie-Tooth Disease 2b2 75
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:
one family has been reported (last curated march 2015)
onset between 28 and 42 years
usually begins in feet and legs (peroneal distribution)
may progress to upper limbs
for autosomal dominant forms of axonal neuropathy, see cmt2a


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:

OMIM 57 605589
Disease Ontology 12 DOID:0110179
ICD10 33 G60.0
Orphanet 59 ORPHA101101
MESH via Orphanet 45 C537991
UMLS via Orphanet 74 C1854150
ICD10 via Orphanet 34 G60.0
MedGen 42 C1854150
MeSH 44 D002607
UMLS 73 C1854150

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

UniProtKB/Swiss-Prot : 75 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. Nerve conduction velocities are normal or slightly reduced.

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). Related phenotypes are hyporeflexia and areflexia

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)

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

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

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 26.4 COX6A1 DNAJB2 JPH1 MED25 TRIM2
2 tooth disease 9.9
3 spastic paraplegia 56, autosomal recessive 9.5 COX6A1 TRIM2
4 charcot-marie-tooth disease, axonal, type 2k 9.1 DNAJB2 JPH1
5 spastic paraplegia 46, autosomal recessive 9.0 COX6A1 SPG21 TRIM2
6 charcot-marie-tooth disease intermediate type 8.7 COX6A1 DNAJB2 TRIM2
7 charcot-marie-tooth disease type 2a2 8.3 COX6A1 DNAJB2 SPG21 TRIM2
8 charcot-marie-tooth disease, axonal, type 2h 8.3 COX6A1 DNAJB2 SPG21 TRIM2
9 charcot-marie-tooth disease, recessive intermediate d 8.3 COX6A1 DNAJB2 SPG21 TRIM2
10 spastic paraplegia 55, autosomal recessive 8.3 COX6A1 DNAJB2 SPG21 TRIM2
11 charcot-marie-tooth disease, axonal, type 2r 8.3 COX6A1 DNAJB2 SPG21 TRIM2
12 charcot-marie-tooth disease, axonal, type 2p 8.2 COX6A1 DNAJB2 SPG21 TRIM2
13 amyotrophic lateral sclerosis type 5 8.2 COX6A1 DNAJB2 SPG21 TRIM2
14 charcot-marie-tooth disease, axonal, type 2t 8.2 COX6A1 DNAJB2 SPG21 TRIM2
15 charcot-marie-tooth disease, axonal, type 2b1 7.8 COX6A1 DNAJB2 JPH1 SPG21 TRIM2
16 charcot-marie-tooth disease, axonal, type 2e 7.6 COX6A1 DNAJB2 JPH1 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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
distal sensory impairment
hyporeflexia
areflexia
more

Clinical features from OMIM:

605589

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

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

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

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

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

75
# 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.1483-7C> T single nucleotide variant Benign rs2017698 GRCh38 Chromosome 19, 49834979: 49834979
2 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....