CMT2A1
MCID: CHR626
MIFTS: 32

Charcot-Marie-Tooth Disease, Axonal, Type 2a1 (CMT2A1)

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Axonal, Type 2a1

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, Type 2a1:

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2a1 57 72
Charcot-Marie-Tooth Disease, Type 2a1 57 29 13 6 40
Cmt2a1 57 12 59 74
Hereditary Motor and Sensory Neuropathy Iia1 57 12 74
Hmsn Iia1 57 12 74
Hmsn2a1 57 12 74
Charcot-Marie-Tooth Disease Neuronal Type 2a1 12 74
Charcot-Marie-Tooth Neuropathy Type 2a1 12 74
Charcot-Marie-Tooth Disease Type 2a1 12 15
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1 57
Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1 12
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1 59
Charcot-Marie-Tooth Disease, Neuronal, Type 2a1 57
Charcot-Marie-Tooth Disease Axonal Type 2a1 74
Charcot-Marie-Tooth Neuropathy, Type 2a1 57
Charcot-Marie-Tooth Disease 2a1 74

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant charcot-marie-tooth disease type 2a1
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
usually begins in feet and legs (peroneal distribution)
peak age of onset in second decade (range childhood to 50 years)
may progress to upper limbs
genetic heterogeneity (see cmt2a2 )
for autosomal recessive forms, see cmt2b1


HPO:

32
charcot-marie-tooth disease, axonal, type 2a1:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course onset slow progression


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110154
ICD10 33 G60.0
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 73 C1861678
Orphanet 59 ORPHA99946
MedGen 42 C1861678
UMLS 72 C1861678

Summaries for Charcot-Marie-Tooth Disease, Axonal, Type 2a1

OMIM : 57 Charcot-Marie-Tooth 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 slow motor median nerve conduction velocity (NCV) (less than 38 m/s), and type 2, the axonal form, with a normal or slightly reduced NCV. Distal hereditary motor neuropathy (dHMN), also known as spinal CMT, is a third type of CMT characterized by normal motor and sensory NCV and degeneration of spinal cord anterior horn cells. See CMT1B (118200) and CMT1A (118220) for descriptions of autosomal dominant slow nerve conduction types of Charcot-Marie-Tooth disease. See CMT4A (214400) and CMTX1 (302800) for autosomal recessive and X-linked forms of Charcot-Marie-Tooth disease, respectively. (118210)

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2a1, also known as charcot-marie-tooth disease, type 2a1, is related to neuromyotonia and axonal neuropathy, autosomal recessive and charcot-marie-tooth disease, x-linked dominant, 1. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2a1 is KIF1B (Kinesin Family Member 1B), and among its related pathways/superpathways is Factors involved in megakaryocyte development and platelet production. Affiliated tissues include spinal cord, and related phenotypes are areflexia and peripheral neuropathy

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the KIF1B gene on chromosome 1p36.

UniProtKB/Swiss-Prot : 74 Charcot-Marie-Tooth disease 2A1: A dominant 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.

Related Diseases for Charcot-Marie-Tooth Disease, Axonal, Type 2a1

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 2a1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 neuromyotonia and axonal neuropathy, autosomal recessive 11.1
2 charcot-marie-tooth disease, x-linked dominant, 1 11.1
3 hereditary motor and sensory neuropathy v 11.1
4 charcot-marie-tooth disease, axonal, type 2b1 11.1
5 charcot-marie-tooth disease, axonal, type 2b2 11.1
6 charcot-marie-tooth disease, axonal, type 2j 11.1
7 neuropathy, hereditary, with or without age-related macular degeneration 11.1
8 charcot-marie-tooth disease, axonal, type 2u 11.1
9 charcot-marie-tooth disease, axonal, type 2w 11.1
10 charcot-marie-tooth disease, axonal, type 2x 11.1
11 charcot-marie-tooth disease, axonal, type 2z 11.1
12 charcot-marie-tooth disease, axonal, type 2t 11.1
13 charcot-marie-tooth disease 9.7 MFN2 KIF1B
14 charcot-marie-tooth disease type 2a 9.7 MFN2 KIF1B
15 tooth disease 9.7 MFN2 KIF1B
16 charcot-marie-tooth neuropathy type 2a 9.7 MFN2 KIF1B
17 motor peripheral neuropathy 9.7 MFN2 KIF1B
18 charcot-marie-tooth disease, demyelinating, type 1a 9.6 MFN2 KIF1B
19 hereditary motor and sensory neuropathy, type iic 9.6 MFN2 KIF1B
20 neuropathy, hereditary, with liability to pressure palsies 9.6 MFN2 KIF1B
21 charcot-marie-tooth disease, axonal, type 2k 9.5 MFN2 KIF1B
22 charcot-marie-tooth disease and deafness 9.5 MFN2 KIF1B
23 peripheral nervous system disease 9.4 MFN2 KIF1B
24 charcot-marie-tooth disease, axonal, type 2e 9.2 MFN2 KIF1B

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2a1:



Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2a1

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Axonal, Type 2a1

Human phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2a1:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 areflexia 32 HP:0001284
2 peripheral neuropathy 32 HP:0009830
3 pes cavus 32 HP:0001761
4 decreased motor nerve conduction velocity 32 HP:0003431
5 hyporeflexia 32 HP:0001265
6 distal amyotrophy 32 HP:0003693
7 foot dorsiflexor weakness 32 HP:0009027
8 limb muscle weakness 32 HP:0003690
9 hammertoe 32 HP:0001765
10 distal muscle weakness 32 HP:0002460
11 steppage gait 32 HP:0003376
12 distal sensory impairment 32 HP:0002936
13 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
14 onion bulb formation 32 HP:0003383
15 axonal degeneration/regeneration 32 HP:0003378
16 peripheral axonal atrophy 32 HP:0003384

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
'steppage' gait
more
Skeletal Feet:
pes cavus
foot deformities
hammer toes

Clinical features from OMIM:

118210

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Axonal, Type 2a1

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Axonal, Type 2a1

Genetic Tests for Charcot-Marie-Tooth Disease, Axonal, Type 2a1

Genetic tests related to Charcot-Marie-Tooth Disease, Axonal, Type 2a1:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 2a1 29 KIF1B

Anatomical Context for Charcot-Marie-Tooth Disease, Axonal, Type 2a1

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Axonal, Type 2a1:

41
Spinal Cord

Publications for Charcot-Marie-Tooth Disease, Axonal, Type 2a1

Articles related to Charcot-Marie-Tooth Disease, Axonal, Type 2a1:

# Title Authors PMID Year
1
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. 8 71
11389829 2001
2
Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. 8 71
9409358 1997
3
Charcot-Marie-Tooth Neuropathy Type 2A 71
20301684 2005
4
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 71
20301532 1998
5
Charcot-Marie-Tooth Neuropathy Type 2 71
20301462 1998
6
Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. 8
8406488 1993
7
Clinical and genetic heterogeneity of Charcot-Marie-Tooth disease. 8
1733853 1992
8
A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy. 38
21686698 2009

Variations for Charcot-Marie-Tooth Disease, Axonal, Type 2a1

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2a1:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KIF1B NM_015074.3(KIF1B): c.293A> T (p.Gln98Leu) single nucleotide variant Pathogenic rs121908160 1:10318660-10318660 1:10258602-10258602
2 KIF1B NM_015074.3(KIF1B): c.1567A> G (p.Ile523Val) single nucleotide variant Uncertain significance rs374848403 1:10355752-10355752 1:10295694-10295694
3 KIF1B NM_015074.3(KIF1B): c.2021C> T (p.Thr674Ile) single nucleotide variant Uncertain significance rs41274468 1:10380144-10380144 1:10320086-10320086

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2a1:

74
# Symbol AA change Variation ID SNP ID
1 KIF1B p.Gln98Leu VAR_011515 rs121908160

Expression for Charcot-Marie-Tooth Disease, Axonal, Type 2a1

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, Type 2a1.

Pathways for Charcot-Marie-Tooth Disease, Axonal, Type 2a1

Pathways related to Charcot-Marie-Tooth Disease, Axonal, Type 2a1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.82 MFN2 KIF1B

GO Terms for Charcot-Marie-Tooth Disease, Axonal, Type 2a1

Biological processes related to Charcot-Marie-Tooth Disease, Axonal, Type 2a1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 8.62 MFN2 KIF1B

Sources for Charcot-Marie-Tooth Disease, Axonal, Type 2a1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....