MCID: CHR646
MIFTS: 39

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

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

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

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

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2b 57 53 29 6 73
Cmt2b 57 12 59 75
Charcot-Marie-Tooth Disease, Type 2b 57 13 40
Charcot-Marie-Tooth Disease Type 2b 12 53 15
Hmsn Iib 57 12 75
Hmsn2b 57 12 75
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b 12 59
Hereditary Motor and Sensory Neuropathy Iib 57 75
Charcot-Marie-Tooth Neuropathy Type 2b 12 75
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b 57
Hereditary Motor and Sensory Neuropathy Iib; Hmsn Iib 57
Peripheral Sensory Neuropathy, Autosomal Dominant 53
Peripheral Sensory Neuropathy Autosomal Dominant 75
Charcot-Marie-Tooth Disease, Neuronal, Type 2b 53
Charcot-Marie-Tooth Disease Neuronal Type 2b 75
Hereditary Motor and Sensory Nueropathy Iib 12
Hereditary Motor and Sensory Neuropathy 2 B 53
Charcot-Marie-Tooth Disease Axonal Type 2b 75
Charcot-Marie-Tooth Neuropathy, Type 2b 57
Charcot Marie Tooth Disease Type 2b 53
Charcot-Marie-Tooth Disease 2b 75
Cmt 2b 53
Psn 75

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant charcot-marie-tooth disease type 2b
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
usually begins in feet and legs (peroneal distribution)
may progress to upper limbs
peak age of onset in second decade
phenotypic overlap with hereditary sensory and autonomic neuropathy type i (hsan1, )


HPO:

32
charcot-marie-tooth disease, axonal, type 2b:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 600882
Disease Ontology 12 DOID:0110159
ICD10 33 G60.0
Orphanet 59 ORPHA99936
UMLS via Orphanet 74 C1833219
ICD10 via Orphanet 34 G60.0
MedGen 42 C1833219
UMLS 73 C1833219

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

UniProtKB/Swiss-Prot : 75 Charcot-Marie-Tooth disease 2B: 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. Nerve conduction velocities are normal or slightly reduced.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2b, also known as cmt2b, is related to sensory peripheral neuropathy and tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2b is RAB7A (RAB7A, Member RAS Oncogene Family), and among its related pathways/superpathways are Cytoskeletal Signaling and Neural Crest Differentiation. Related phenotypes are pes planus and pes cavus

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the RAB7 gene on chromosome 3q21.

NIH Rare Diseases : 53 Charcot-Marie-Tooth disease type 2B (CMT2B) is an inheritedperipheral neuropathy with onset in the second or third decade of life. Common signs and symptoms include severe loss of sensation in the feet, lower legs, hands, and forearms; reduced tendon reflexes in the ankles; weakness in the lower limbs; and the loss of muscle tissue (muscle atrophy). This type of CMT is also associated with the formation of ulcers in the hands and feet. CMT2B is caused by changes in the RAB7A gene. It is inherited in an autosomal dominant fashion. Treatment is aimed at addressing the symptoms in each patient and often involves a team of specialists.

Description from OMIM: 600882

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

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 sensory peripheral neuropathy 28.8 GJB1 MPZ PMP22 SPTLC1
2 tooth disease 28.2 EGR2 GJB1 KIF1B MPZ PMP22
3 neuropathy 26.4 DNM2 EGR2 GJB1 MPZ PMP22 SPTLC1
4 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 25.9 DNM2 EGR2 GJB1 KIF1B MPZ PMP22
5 charcot-marie-tooth disease 25.3 DNM2 EGR2 GJB1 KIF1B MPZ PMP22
6 charcot-marie-tooth disease, axonal, type 2i 10.5 KIF1B MPZ
7 charcot-marie-tooth disease, axonal, type 2j 10.5 KIF1B MPZ
8 hereditary neuropathy with liability to pressure palsy 10.4 MPZ PMP22
9 congenital hypomyelination neuropathy 10.4 MPZ PMP22
10 foot drop 10.4 MPZ PMP22
11 roussy-levy hereditary areflexic dystasia 10.4 MPZ PMP22
12 charcot-marie-tooth disease, axonal, type 2l 10.3 KIF1B MPZ
13 chronic inflammatory demyelinating polyradiculoneuropathy 10.2 MPZ PMP22
14 charcot-marie-tooth disease, x-linked dominant, 1 10.2 GJB1 MPZ
15 tabes dorsalis 10.2 RAB7A SPTLC1
16 charcot-marie-tooth disease, axonal, type 2q 10.2 EGR2 MPZ
17 polyradiculoneuropathy 10.2 MPZ PMP22
18 cauda equina syndrome 10.2 EGR2 PMP22
19 sensory neuropathy type 1 10.1 GJB1 SPTLC1
20 tertiary neurosyphilis 10.1 RAB7A SPTLC1
21 pelizaeus-merzbacher disease 10.1 MPZ PMP22
22 charcot-marie-tooth disease, x-linked recessive, 2 10.1 GJB1 SULT2B1
23 charcot-marie-tooth disease, demyelinating, type 1c 10.1 KIF1B MPZ PMP22
24 guillain-barre syndrome 10.0 MPZ PMP22
25 charcot-marie-tooth disease, axonal, type 2f 10.0 GJB1 KIF1B MPZ
26 charcot-marie-tooth disease, x-linked recessive, 3 10.0 GJB1 SULT2B1
27 amyotrophic neuralgia 10.0 GJB1 KIF1B PMP22
28 brachial plexus neuropathy 9.9 GJB1 KIF1B PMP22
29 charcot-marie-tooth disease, demyelinating, type 1f 9.9 GJB1 MPZ PMP22
30 hereditary neuropathies 9.9 GJB1 MPZ PMP22
31 neuritis 9.9 MPZ PMP22
32 lung cancer 9.9
33 vernal conjunctivitis 9.9
34 conjunctivitis 9.9
35 lichen planus 9.9
36 oral lichen planus 9.9
37 hereditary sensory neuropathy 9.9
38 type i 9.9
39 charcot-marie-tooth disease, dominant intermediate a 9.8 DNM2 GJB1
40 hereditary motor and sensory neuropathy, type iic 9.7 GJB1 KIF1B MPZ RAB7A
41 diabetic neuropathy 9.7 MPZ PMP22
42 charcot-marie-tooth disease, axonal, type 2k 9.6 DNM2 KIF1B RAB7A
43 motor peripheral neuropathy 9.5 GJB1 KIF1B MPZ PMP22
44 charcot-marie-tooth neuropathy type 1 9.3 EGR2 GJB1 MPZ PMP22
45 peripheral nervous system disease 9.3 EGR2 GJB1 MPZ PMP22
46 neuropathy, hereditary, with liability to pressure palsies 8.9 EGR2 GJB1 KIF1B MPZ PMP22
47 charcot-marie-tooth disease, demyelinating, type 1a 8.9 EGR2 GJB1 KIF1B MPZ PMP22
48 charcot-marie-tooth disease, demyelinating, type 1b 8.2 EGR2 GJB1 KIF1B MPZ PMP22 SULT2B1
49 charcot-marie-tooth disease, demyelinating, type 1d 8.2 EGR2 GJB1 KIF1B MPZ PMP22 SULT2B1
50 charcot-marie-tooth disease and deafness 8.2 EGR2 GJB1 KIF1B MPZ PMP22 SULT2B1

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



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

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes planus
pes cavus
foot deformities
hammer toes
autoamputation
more
Skin Nails Hair Skin:
ulcers, distal, due to sensory neuropathy
ulcers often lead to infection and amputation

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
Skin Nails Hair Nails:
dystrophic toenail changes


Clinical features from OMIM:

600882

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

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 pes planus 32 HP:0001763
2 pes cavus 32 HP:0001761
3 decreased motor nerve conduction velocity 32 HP:0003431
4 areflexia 32 HP:0001284
5 hyporeflexia 32 HP:0001265
6 foot dorsiflexor weakness 32 HP:0009027
7 hammertoe 32 HP:0001765
8 dystrophic toenail 32 HP:0001810
9 distal muscle weakness 32 HP:0002460
10 steppage gait 32 HP:0003376
11 distal amyotrophy 32 HP:0003693
12 foot osteomyelitis 32 HP:0001886
13 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
14 axonal degeneration/regeneration 32 HP:0003378
15 peripheral axonal atrophy 32 HP:0003384
16 autoamputation of foot 32 HP:0001868

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.76 DNM2 EGR2 GJB1 KIF1B MPZ PMP22
2 mortality/aging MP:0010768 9.56 MPZ PMP22 RAB7A SPTLC1 DNM2 EGR2
3 nervous system MP:0003631 9.17 DNM2 EGR2 GJB1 KIF1B MPZ PMP22

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

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

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

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Axonal, Type 2b 29 RAB7A

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

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

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

# Title Authors Year
1
A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci. ( 11801401 )
2002
2
Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family. ( 9219740 )
1997
3
Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B. ( 8659534 )
1996

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

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

75
# Symbol AA change Variation ID SNP ID
1 RAB7A p.Leu129Phe VAR_018722 rs121909078
2 RAB7A p.Val162Met VAR_018723 rs121909079
3 RAB7A p.Lys157Asn VAR_037887 rs121909081
4 RAB7A p.Asn161Thr VAR_037888 rs121909080

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

6
(show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAB7A NM_004637.5(RAB7A): c.385C> T (p.Leu129Phe) single nucleotide variant Pathogenic rs121909078 GRCh37 Chromosome 3, 128525419: 128525419
2 RAB7A NM_004637.5(RAB7A): c.385C> T (p.Leu129Phe) single nucleotide variant Pathogenic rs121909078 GRCh38 Chromosome 3, 128806576: 128806576
3 RAB7A NM_004637.5(RAB7A): c.484G> A (p.Val162Met) single nucleotide variant Pathogenic rs121909079 GRCh37 Chromosome 3, 128526470: 128526470
4 RAB7A NM_004637.5(RAB7A): c.484G> A (p.Val162Met) single nucleotide variant Pathogenic rs121909079 GRCh38 Chromosome 3, 128807627: 128807627
5 RAB7A NM_004637.5(RAB7A): c.482A> C (p.Asn161Thr) single nucleotide variant Pathogenic rs121909080 GRCh37 Chromosome 3, 128526468: 128526468
6 RAB7A NM_004637.5(RAB7A): c.482A> C (p.Asn161Thr) single nucleotide variant Pathogenic rs121909080 GRCh38 Chromosome 3, 128807625: 128807625
7 RAB7A NM_004637.5(RAB7A): c.471G> C (p.Lys157Asn) single nucleotide variant Pathogenic rs121909081 GRCh37 Chromosome 3, 128526457: 128526457
8 RAB7A NM_004637.5(RAB7A): c.471G> C (p.Lys157Asn) single nucleotide variant Pathogenic rs121909081 GRCh38 Chromosome 3, 128807614: 128807614
9 RAB7A NM_004637.5(RAB7A): c.423C> G (p.Ala141=) single nucleotide variant Benign/Likely benign rs61758751 GRCh37 Chromosome 3, 128526409: 128526409
10 RAB7A NM_004637.5(RAB7A): c.423C> G (p.Ala141=) single nucleotide variant Benign/Likely benign rs61758751 GRCh38 Chromosome 3, 128807566: 128807566
11 RAB7A NM_004637.5(RAB7A): c.87G> A (p.Val29=) single nucleotide variant Benign/Likely benign rs145441548 GRCh37 Chromosome 3, 128516819: 128516819
12 RAB7A NM_004637.5(RAB7A): c.87G> A (p.Val29=) single nucleotide variant Benign/Likely benign rs145441548 GRCh38 Chromosome 3, 128797976: 128797976
13 RAB7A NM_004637.5(RAB7A): c.213G> A (p.Gln71=) single nucleotide variant Likely benign rs140299645 GRCh37 Chromosome 3, 128525247: 128525247
14 RAB7A NM_004637.5(RAB7A): c.213G> A (p.Gln71=) single nucleotide variant Likely benign rs140299645 GRCh38 Chromosome 3, 128806404: 128806404
15 RAB7A NM_004637.5(RAB7A): c.21G> A (p.Val7=) single nucleotide variant Likely benign rs140857794 GRCh37 Chromosome 3, 128514231: 128514231
16 RAB7A NM_004637.5(RAB7A): c.21G> A (p.Val7=) single nucleotide variant Likely benign rs140857794 GRCh38 Chromosome 3, 128795388: 128795388
17 RAB7A NM_004637.5(RAB7A): c.180+9A> G single nucleotide variant Likely benign rs762831187 GRCh37 Chromosome 3, 128516921: 128516921
18 RAB7A NM_004637.5(RAB7A): c.180+9A> G single nucleotide variant Likely benign rs762831187 GRCh38 Chromosome 3, 128798078: 128798078
19 RAB7A NM_004637.5(RAB7A): c.577G> A (p.Asp193Asn) single nucleotide variant Uncertain significance rs756968558 GRCh37 Chromosome 3, 128532218: 128532218
20 RAB7A NM_004637.5(RAB7A): c.577G> A (p.Asp193Asn) single nucleotide variant Uncertain significance rs756968558 GRCh38 Chromosome 3, 128813375: 128813375
21 RAB7A NM_004637.5(RAB7A): c.414G> T (p.Arg138=) single nucleotide variant Likely benign rs754928233 GRCh37 Chromosome 3, 128526400: 128526400
22 RAB7A NM_004637.5(RAB7A): c.414G> T (p.Arg138=) single nucleotide variant Likely benign rs754928233 GRCh38 Chromosome 3, 128807557: 128807557
23 RAB7A NM_004637.5(RAB7A): c.321C> T (p.Leu107=) single nucleotide variant Likely benign rs749227632 GRCh38 Chromosome 3, 128806512: 128806512
24 RAB7A NM_004637.5(RAB7A): c.321C> T (p.Leu107=) single nucleotide variant Likely benign rs749227632 GRCh37 Chromosome 3, 128525355: 128525355
25 RAB7A NM_004637.5(RAB7A): c.551A> G (p.Asn184Ser) single nucleotide variant Uncertain significance rs752824265 GRCh38 Chromosome 3, 128813349: 128813349
26 RAB7A NM_004637.5(RAB7A): c.551A> G (p.Asn184Ser) single nucleotide variant Uncertain significance rs752824265 GRCh37 Chromosome 3, 128532192: 128532192

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

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

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

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

# Super pathways Score Top Affiliating Genes
1 11.62 DNM2 KIF1B RAB7A
2 10.81 GJB1 MPZ PMP22

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

Cellular components related to Charcot-Marie-Tooth Disease, Axonal, Type 2b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phagocytic vesicle membrane GO:0030670 8.62 DNM2 RAB7A

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

# Name GO ID Score Top Affiliating Genes
1 peripheral nervous system development GO:0007422 8.96 EGR2 PMP22
2 myelination GO:0042552 8.8 EGR2 MPZ PMP22

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

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
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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
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