CMT2A1
MCID: CHR626
MIFTS: 31

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 58 74
Charcot-Marie-Tooth Disease, Type 2a1 58 30 13 6 41
Cmt2a1 58 12 60 76
Hereditary Motor and Sensory Neuropathy Iia1 58 12 76
Hmsn Iia1 58 12 76
Hmsn2a1 58 12 76
Charcot-Marie-Tooth Disease Neuronal Type 2a1 12 76
Charcot-Marie-Tooth Neuropathy Type 2a1 12 76
Charcot-Marie-Tooth Disease Type 2a1 12 15
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1 58
Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1 12
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1 60
Charcot-Marie-Tooth Disease, Neuronal, Type 2a1 58
Charcot-Marie-Tooth Disease Axonal Type 2a1 76
Charcot-Marie-Tooth Neuropathy, Type 2a1 58
Charcot-Marie-Tooth Disease 2a1 76

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant charcot-marie-tooth disease type 2a1
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
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:

33
charcot-marie-tooth disease, axonal, type 2a1:
Onset and clinical course slow progression onset
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110154
OMIM 58 118210
ICD10 34 G60.0
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C1861678
Orphanet 60 ORPHA99946
MedGen 43 C1861678
UMLS 74 C1861678

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

OMIM : 58 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 peripheral neuropathy and pes cavus

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 : 76 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
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 11.0
2 charcot-marie-tooth disease, x-linked dominant, 1 11.0
3 hereditary motor and sensory neuropathy v 11.0
4 charcot-marie-tooth disease, axonal, type 2b1 11.0
5 charcot-marie-tooth disease, axonal, type 2b2 11.0
6 charcot-marie-tooth disease, axonal, type 2j 11.0
7 neuropathy, hereditary, with or without age-related macular degeneration 11.0
8 charcot-marie-tooth disease, axonal, type 2u 11.0
9 charcot-marie-tooth disease, axonal, type 2w 11.0
10 charcot-marie-tooth disease, axonal, type 2x 11.0
11 charcot-marie-tooth disease, axonal, type 2z 11.0
12 charcot-marie-tooth disease, axonal, type 2t 11.0
13 charcot-marie-tooth neuropathy type 2a 9.8 KIF1B MFN2
14 charcot-marie-tooth disease type 2a 9.8 KIF1B MFN2
15 charcot-marie-tooth disease 9.8 KIF1B MFN2
16 tooth disease 9.8 KIF1B MFN2
17 motor peripheral neuropathy 9.8 KIF1B MFN2
18 charcot-marie-tooth disease, demyelinating, type 1a 9.8 KIF1B MFN2
19 neuropathy, hereditary, with liability to pressure palsies 9.8 KIF1B MFN2
20 hereditary motor and sensory neuropathy, type iic 9.7 KIF1B MFN2
21 charcot-marie-tooth disease, axonal, type 2k 9.7 KIF1B MFN2
22 charcot-marie-tooth disease and deafness 9.7 KIF1B MFN2
23 peripheral nervous system disease 9.6 KIF1B MFN2
24 charcot-marie-tooth disease, axonal, type 2e 9.5 KIF1B MFN2

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:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 peripheral neuropathy 33 HP:0009830
2 pes cavus 33 HP:0001761
3 decreased motor nerve conduction velocity 33 HP:0003431
4 areflexia 33 HP:0001284
5 hyporeflexia 33 HP:0001265
6 foot dorsiflexor weakness 33 HP:0009027
7 limb muscle weakness 33 HP:0003690
8 hammertoe 33 HP:0001765
9 distal muscle weakness 33 HP:0002460
10 steppage gait 33 HP:0003376
11 distal amyotrophy 33 HP:0003693
12 distal sensory impairment 33 HP:0002936
13 decreased number of peripheral myelinated nerve fibers 33 HP:0003380
14 onion bulb formation 33 HP:0003383
15 axonal degeneration/regeneration 33 HP:0003378
16 peripheral axonal atrophy 33 HP:0003384

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes cavus
foot deformities
hammer toes

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

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 30 KIF1B

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

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

42
Spinal Cord

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

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

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

76
# Symbol AA change Variation ID SNP ID
1 KIF1B p.Gln98Leu VAR_011515 rs121908160

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF1B NM_015074.3(KIF1B): c.293A> T (p.Gln98Leu) single nucleotide variant Pathogenic rs121908160 GRCh37 Chromosome 1, 10318660: 10318660
2 KIF1B NM_015074.3(KIF1B): c.293A> T (p.Gln98Leu) single nucleotide variant Pathogenic rs121908160 GRCh38 Chromosome 1, 10258602: 10258602
3 KIF1B NM_015074.3(KIF1B): c.2021C> T (p.Thr674Ile) single nucleotide variant Uncertain significance rs41274468 GRCh37 Chromosome 1, 10380144: 10380144
4 KIF1B NM_015074.3(KIF1B): c.2021C> T (p.Thr674Ile) single nucleotide variant Uncertain significance rs41274468 GRCh38 Chromosome 1, 10320086: 10320086

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 KIF1B MFN2

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 KIF1B MFN2

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
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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