CMT2B
MCID: CHR646
MIFTS: 50

Charcot-Marie-Tooth Disease, Axonal, Type 2b (CMT2B)

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 20 70
Charcot-Marie-Tooth Disease Type 2b 12 20 29 6 15
Cmt2b 57 12 58 72
Charcot-Marie-Tooth Disease, Type 2b 57 13 39
Hmsn Iib 57 12 72
Hmsn2b 57 12 72
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b 12 58
Hereditary Motor and Sensory Neuropathy Iib 57 72
Charcot-Marie-Tooth Neuropathy Type 2b 12 72
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b 57
Hereditary Motor and Sensory Neuropathy Iib; Hmsn Iib 57
Peripheral Sensory Neuropathy, Autosomal Dominant 20
Peripheral Sensory Neuropathy Autosomal Dominant 72
Charcot-Marie-Tooth Disease, Neuronal, Type 2b 20
Charcot-Marie-Tooth Disease Neuronal Type 2b 72
Hereditary Motor and Sensory Nueropathy Iib 12
Hereditary Motor and Sensory Neuropathy 2 B 20
Charcot-Marie-Tooth Disease Axonal Type 2b 72
Charcot-Marie-Tooth Neuropathy, Type 2b 57
Charcot Marie Tooth Disease Type 2b 20
Charcot-Marie-Tooth Disease 2b 72
Cmt 2b 20
Psn 72

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant charcot-marie-tooth disease type 2b
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult;

OMIM®:

57 (Updated 20-May-2021)
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:

31
charcot-marie-tooth disease, axonal, type 2b:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110159
OMIM® 57 600882
OMIM Phenotypic Series 57 PS118220
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 71 C1833219
Orphanet 58 ORPHA99936
MedGen 41 C1833219
UMLS 70 C1833219

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

UniProtKB/Swiss-Prot : 72 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.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2b, also known as charcot-marie-tooth disease type 2b, is related to hereditary sensory and autonomic neuropathy type 1 and charcot-marie-tooth disease, axonal, type 2p. 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 Vesicle-mediated transport and Salmonella infection (KEGG). Affiliated tissues include skin, and related phenotypes are pes planus and areflexia

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

GARD : 20 Charcot-Marie-Tooth disease type 2B (CMT2B) is an inherited peripheral 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.

More information from OMIM: 600882 PS118220

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

(show top 50) (show all 113)
# Related Disease Score Top Affiliating Genes
1 hereditary sensory and autonomic neuropathy type 1 30.3 SPTLC1 SH3TC2 RAB7A LITAF
2 charcot-marie-tooth disease, axonal, type 2p 29.9 LITAF GDAP1 DNM2
3 axonal neuropathy 29.9 NEFL MFN2 GDAP1 GARS1
4 sensory peripheral neuropathy 28.8 SPTLC1 MTMR2 MPZ MFN2 LITAF GJB1
5 neuropathy 27.3 SPTLC1 SH3TC2 SBF2 RAB7A NEFL MTMR2
6 tooth disease 27.2 SPTLC1 SH3TC2 SBF2 RAB7A NEFL MTMR2
7 peripheral nervous system disease 26.8 SPTLC1 SH3TC2 SBF2 RAB7B RAB7A NEFL
8 charcot-marie-tooth disease 26.7 SPTLC1 SH3TC2 SBF2 RILP RAB7B RAB7A
9 pupil disease 10.3 MPZ GDAP1
10 argyll robertson pupil 10.3 MPZ GDAP1
11 abnormal pupillary function 10.3 MPZ GDAP1
12 leukodystrophy, hypomyelinating, 12 10.3 RAB7B RAB7A
13 spinal muscular atrophy with lower extremity predominance 10.3 GDAP1 GARS1
14 tertiary neurosyphilis 10.3 SPTLC1 NEFL
15 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 10.3 SPTLC1 RAB7B RAB7A
16 warburg micro syndrome 1 10.3
17 warburg micro syndrome 10.3
18 microcephaly 10.3
19 neuroblastoma 10.3
20 spasticity 10.3
21 early-onset glaucoma 10.3 SBF2 MTMR2
22 autonomic neuropathy 10.3
23 charcot-marie-tooth disease, axonal, type 2n 10.2 GDAP1 GARS1
24 niemann-pick disease 10.2 RAB7B RAB7A MPZ
25 autoimmune peripheral neuropathy 10.2 MPZ GJB1
26 legionnaire disease 10.2 RAB7B RAB7A RAB5A
27 neuropathy, hereditary sensory and autonomic, type ia 10.2 SPTLC1 SH3TC2
28 osteomyelitis 10.2
29 axonal hereditary motor and sensory neuropathy 10.2
30 thoracic outlet syndrome 10.2 KIF1B GARS1
31 niemann-pick disease, type c1 10.2 RAB7B RAB7A RAB5A
32 neuropathy, hereditary motor and sensory, russe type 10.2 SH3TC2 RILP GDAP1
33 charcot-marie-tooth disease, axonal, type 2u 10.2 GJB1 GARS1
34 charcot-marie-tooth disease, axonal, type 2w 10.2 MPZ GJB1 GDAP1
35 neuropathy, hereditary sensory, type id 10.2 SPTLC1 RAB7B RAB7A DNM2
36 myopathy, centronuclear, x-linked 10.2 SBF2 MTMR2 DNM2
37 slowed nerve conduction velocity, autosomal dominant 10.1 NEFL MPZ GJB1
38 brachial plexus neuropathy 10.1 MPZ GJB1
39 corneal dystrophy, fleck 10.1 SBF2 MTMR2 FIG4
40 cataract 8, multiple types 10.1 RAB7B RAB7A RAB5A DNM2
41 mononeuropathy 10.1 SH3TC2 MPZ
42 charcot-marie-tooth disease, type 4k 10.1 SH3TC2 LITAF
43 charcot-marie-tooth disease, recessive intermediate a 10.1 MFN2 GDAP1
44 allergic rhinitis 10.0
45 rhinitis 10.0
46 charcot-marie-tooth disease, dominant intermediate a 10.0 MPZ GJB1 GDAP1 DNM2
47 yunis-varon syndrome 10.0 SBF2 MTMR2 GDAP1 FIG4
48 mfn2 hereditary motor and sensory neuropathy 10.0 MFN2 KIF1B
49 charcot-marie-tooth disease type 2a 10.0 MFN2 KIF1B
50 charcot-marie-tooth disease, axonal, type 2b1 10.0 MFN2 GDAP1

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

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

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 pes planus 31 HP:0001763
2 areflexia 31 HP:0001284
3 sensory neuropathy 31 HP:0000763
4 pes cavus 31 HP:0001761
5 hyporeflexia 31 HP:0001265
6 decreased motor nerve conduction velocity 31 HP:0003431
7 steppage gait 31 HP:0003376
8 dystrophic toenail 31 HP:0001810
9 hammertoe 31 HP:0001765
10 sensory impairment 31 HP:0003474
11 distal muscle weakness 31 HP:0002460
12 distal amyotrophy 31 HP:0003693
13 foot dorsiflexor weakness 31 HP:0009027
14 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
15 foot osteomyelitis 31 HP:0001886
16 axonal degeneration/regeneration 31 HP:0003378
17 peripheral axonal atrophy 31 HP:0003384
18 autoamputation of foot 31 HP:0001868

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Feet:
pes planus
pes cavus
autoamputation
foot deformities
hammer toes
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 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.6 GJB1
2 Decreased viability GR00055-A-2 9.6 GJB1
3 Decreased viability GR00249-S 9.6 GJB1 MPZ RNF115 SH3TC2
4 Decreased viability GR00381-A-1 9.6 FIG4 MPZ SH3TC2
5 Decreased viability GR00381-A-3 9.6 MPZ
6 Decreased viability GR00386-A-1 9.6 MPZ NEFL SPTLC1
7 Decreased viability GR00402-S-2 9.6 GARS1 GJB1 MPZ MTMR2 RILP RNF115

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.83 DNM2 FIG4 GARS1 GDAP1 GJB1 KIF1B
2 nervous system MP:0003631 9.47 DNM2 FIG4 GARS1 GDAP1 GJB1 KIF1B

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 Type 2b 29 RAB7A

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

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

40
Skin

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

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

(show top 50) (show all 56)
# Title Authors PMID Year
1
Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene. 61 6 57
17060578 2006
2
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. 6 61 57
12545426 2003
3
Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus. 6 57 61
11094113 2000
4
Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci. 61 57 6
10636124 2000
5
A novel RAB7 mutation associated with ulcero-mutilating neuropathy. 57 6
15455439 2004
6
Factors Affecting Phenotype Variability in a Family with CMT2B: Gender and LRSAM1 Genotype. 61 6
27462242 2016
7
Charcot-Marie-Tooth 2b associated Rab7 mutations cause axon growth and guidance defects during vertebrate sensory neuron development. 61 6
26791407 2016
8
Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila. 6 61
24521780 2014
9
Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin. 6 61
23179371 2013
10
Rab7 mutants associated with Charcot-Marie-Tooth disease cause delayed growth factor receptor transport and altered endosomal and nuclear signaling. 6 61
23188822 2013
11
Autonomic nervous system involvement in a new CMT2B family. 61 6
22971099 2012
12
Rab7 mutants associated with Charcot-Marie-Tooth disease exhibit enhanced NGF-stimulated signaling. 6 61
21151572 2010
13
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. 6 61
19651702 2009
14
Characterization of the Rab7K157N mutant protein associated with Charcot-Marie-Tooth type 2B. 6 61
18501189 2008
15
Functional characterization of Rab7 mutant proteins associated with Charcot-Marie-Tooth type 2B disease. 6 61
18272684 2008
16
Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family. 57 61
9219740 1997
17
Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q. 61 57
7573046 1995
18
A mechanism for retromer endosomal coat complex assembly with cargo. 6
24344282 2014
19
Vimentin phosphorylation and assembly are regulated by the small GTPase Rab7a. 6
23458836 2013
20
Molecular basis of Charcot-Marie-Tooth type 2B disease. 61 20
23176482 2012
21
Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation. 6
20028791 2010
22
Membrane recruitment of the cargo-selective retromer subcomplex is catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP TBC1D5. 6
19531583 2009
23
A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24. 57
12870133 2003
24
Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. 57
10732809 1997
25
Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B. 57
8659534 1996
26
Alteration of the late endocytic pathway in Charcot-Marie-Tooth type 2B disease. 61
32280996 2021
27
An altered lipid metabolism characterizes Charcot-Marie-Tooth type 2B peripheral neuropathy. 61
32829064 2020
28
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation. 61
32326241 2020
29
Lysosomal Regulation of Inter-mitochondrial Contact Fate and Motility in Charcot-Marie-Tooth Type 2. 61
31231042 2019
30
Alterations of autophagy in the peripheral neuropathy Charcot-Marie-Tooth type 2B. 61
29130394 2018
31
Charcot Marie Tooth 2B Peripheral Sensory Neuropathy: How Rab7 Mutations Impact NGF Signaling? 61
28165391 2017
32
Charcot-Marie-Tooth disease: New insights from skin biopsy. 61
26362287 2015
33
A novel RAB7 mutation in a Chinese family with Charcot-Marie-Tooth type 2B disease. 61
24498653 2014
34
Charcot-Marie-Tooth 2B mutations in rab7 cause dosage-dependent neurodegeneration due to partial loss of function. 61
24327558 2013
35
Defective axonal transport of Rab7 GTPase results in dysregulated trophic signaling. 61
23616551 2013
36
Dynamin 2 in Charcot-Marie-Tooth disease. 61
22729098 2012
37
The mood stabilizer valproic acid improves defective neurite formation caused by Charcot-Marie-Tooth disease-associated mutant Rab7 through the JNK signaling pathway. 61
20645406 2010
38
CMT2B-associated Rab7 mutants inhibit neurite outgrowth. 61
20464402 2010
39
Rab7 and the CMT2B disease. 61
19754445 2009
40
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. 61
17825552 2007
41
Genetic evaluation of inherited motor/sensory neuropathy. 61
16106622 2004
42
Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity. 61
14557576 2003
43
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. 61
12481988 2002
44
The nuclear muscular dystrophies. 61
12138994 2002
45
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. 61
11801401 2002
46
Molecular basis of hereditary neuropathies. 61
11345007 2001
47
Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2. 61
11231025 2001
48
Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness. 61
11003785 2000
49
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. 61
10841809 2000
50
Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases. 61
10830911 2000

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

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

6 (show top 50) (show all 85)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAB7A NM_004637.5(RAB7A):c.385C>T (p.Leu129Phe) SNV Pathogenic 7345 rs121909078 GRCh37: 3:128525419-128525419
GRCh38: 3:128806576-128806576
2 RAB7A NM_004637.5(RAB7A):c.484G>A (p.Val162Met) SNV Pathogenic 7346 rs121909079 GRCh37: 3:128526470-128526470
GRCh38: 3:128807627-128807627
3 RAB7A NM_004637.5(RAB7A):c.482A>C (p.Asn161Thr) SNV Pathogenic 7347 rs121909080 GRCh37: 3:128526468-128526468
GRCh38: 3:128807625-128807625
4 RAB7A NM_004637.5(RAB7A):c.471G>C (p.Lys157Asn) SNV Pathogenic 7348 rs121909081 GRCh37: 3:128526457-128526457
GRCh38: 3:128807614-128807614
5 RAB7A NM_004637.6(RAB7A):c.471G>T (p.Lys157Asn) SNV Pathogenic 846631 GRCh37: 3:128526457-128526457
GRCh38: 3:128807614-128807614
6 RAB7A NM_004637.6(RAB7A):c.482A>G (p.Asn161Ser) SNV Uncertain significance 846870 GRCh37: 3:128526468-128526468
GRCh38: 3:128807625-128807625
7 RAB7A NC_000003.12:g.(?_128795358)_(128813432_?)dup Duplication Uncertain significance 833207 GRCh37: 3:128514201-128532275
GRCh38:
8 RAB7A NM_004637.6(RAB7A):c.148G>A (p.Val50Met) SNV Uncertain significance 834755 GRCh37: 3:128516880-128516880
GRCh38: 3:128798037-128798037
9 RAB7A NM_004637.6(RAB7A):c.181-3C>T SNV Uncertain significance 837693 GRCh37: 3:128525212-128525212
GRCh38: 3:128806369-128806369
10 RAB7A , LOC112872299 NM_004637.6(RAB7A):c.590G>A (p.Arg197Gln) SNV Uncertain significance 841119 GRCh37: 3:128532231-128532231
GRCh38: 3:128813388-128813388
11 RAB7A , LOC112872299 NM_004637.5(RAB7A):c.551A>G (p.Asn184Ser) SNV Uncertain significance 532741 rs752824265 GRCh37: 3:128532192-128532192
GRCh38: 3:128813349-128813349
12 RAB7A , LOC112872299 NM_004637.5(RAB7A):c.568A>G (p.Ile190Val) SNV Uncertain significance 574067 rs147480945 GRCh37: 3:128532209-128532209
GRCh38: 3:128813366-128813366
13 RAB7A NM_004637.5(RAB7A):c.167T>C (p.Leu56Pro) SNV Uncertain significance 245880 rs775104487 GRCh37: 3:128516899-128516899
GRCh38: 3:128798056-128798056
14 overlap with 5 genes NC_000003.11:g.(?_128514201)_(128631967_?)dup Duplication Uncertain significance 665056 GRCh37: 3:128514201-128631967
GRCh38: 3:128795358-128913124
15 RAB7A NM_004637.6(RAB7A):c.*274G>A SNV Uncertain significance 901604 GRCh37: 3:128532539-128532539
GRCh38: 3:128813696-128813696
16 RAB7A NM_004637.6(RAB7A):c.*1219C>T SNV Uncertain significance 901658 GRCh37: 3:128533484-128533484
GRCh38: 3:128814641-128814641
17 RAB7A NM_004637.6(RAB7A):c.*1343C>T SNV Uncertain significance 901659 GRCh37: 3:128533608-128533608
GRCh38: 3:128814765-128814765
18 RAB7A NM_004637.6(RAB7A):c.*1344G>A SNV Uncertain significance 901660 GRCh37: 3:128533609-128533609
GRCh38: 3:128814766-128814766
19 RAB7A NM_004637.6(RAB7A):c.*317A>G SNV Uncertain significance 903543 GRCh37: 3:128532582-128532582
GRCh38: 3:128813739-128813739
20 RAB7A NM_004637.6(RAB7A):c.*402T>A SNV Uncertain significance 903544 GRCh37: 3:128532667-128532667
GRCh38: 3:128813824-128813824
21 RAB7A NM_004637.6(RAB7A):c.*819C>A SNV Uncertain significance 903545 GRCh37: 3:128533084-128533084
GRCh38: 3:128814241-128814241
22 RAB7A NM_004637.6(RAB7A):c.*831A>G SNV Uncertain significance 903546 GRCh37: 3:128533096-128533096
GRCh38: 3:128814253-128814253
23 RAB7A NM_004637.6(RAB7A):c.377A>G (p.Lys126Arg) SNV Uncertain significance 933839 GRCh37: 3:128525411-128525411
GRCh38: 3:128806568-128806568
24 RAB7A , LOC112872299 NM_004637.6(RAB7A):c.589C>T (p.Arg197Trp) SNV Uncertain significance 939028 GRCh37: 3:128532230-128532230
GRCh38: 3:128813387-128813387
25 RAB7A NM_004637.6(RAB7A):c.448C>A (p.Pro150Thr) SNV Uncertain significance 963168 GRCh37: 3:128526434-128526434
GRCh38: 3:128807591-128807591
26 RAB7A , LOC112872299 NM_004637.6(RAB7A):c.533C>T (p.Thr178Met) SNV Uncertain significance 1015296 GRCh37: 3:128532174-128532174
GRCh38: 3:128813331-128813331
27 RAB7A NM_004637.6(RAB7A):c.403G>A (p.Ala135Thr) SNV Uncertain significance 1039960 GRCh37: 3:128526389-128526389
GRCh38: 3:128807546-128807546
28 RAB7A NM_004637.6(RAB7A):c.481A>G (p.Asn161Asp) SNV Uncertain significance 1041821 GRCh37: 3:128526467-128526467
GRCh38: 3:128807624-128807624
29 RAB7A NM_004637.6(RAB7A):c.503C>T (p.Thr168Met) SNV Uncertain significance 1046646 GRCh37: 3:128526489-128526489
GRCh38: 3:128807646-128807646
30 RAB7A NM_004637.6(RAB7A):c.467C>G (p.Ala156Gly) SNV Uncertain significance 1057779 GRCh37: 3:128526453-128526453
GRCh38: 3:128807610-128807610
31 RAB7A NM_004637.5(RAB7A):c.*702T>G SNV Uncertain significance 343173 rs886057947 GRCh37: 3:128532967-128532967
GRCh38: 3:128814124-128814124
32 RAB7A NM_004637.5(RAB7A):c.*473G>C SNV Uncertain significance 343170 rs886057945 GRCh37: 3:128532738-128532738
GRCh38: 3:128813895-128813895
33 RAB7A NM_004637.5(RAB7A):c.*922A>G SNV Uncertain significance 343176 rs886057949 GRCh37: 3:128533187-128533187
GRCh38: 3:128814344-128814344
34 RAB7A NM_004637.5(RAB7A):c.-204G>T SNV Uncertain significance 343151 rs886057938 GRCh37: 3:128445007-128445007
GRCh38: 3:128726164-128726164
35 RAB7A NM_004637.5(RAB7A):c.-18A>G SNV Uncertain significance 343156 rs886057941 GRCh37: 3:128445193-128445193
GRCh38: 3:128726350-128726350
36 RAB7A NM_004637.5(RAB7A):c.*929A>T SNV Uncertain significance 343177 rs886057950 GRCh37: 3:128533194-128533194
GRCh38: 3:128814351-128814351
37 RAB7A NM_004637.5(RAB7A):c.*997T>G SNV Uncertain significance 343180 rs3755593 GRCh37: 3:128533262-128533262
GRCh38: 3:128814419-128814419
38 RAB7A NM_004637.5(RAB7A):c.*165A>T SNV Uncertain significance 343163 rs886057942 GRCh37: 3:128532430-128532430
GRCh38: 3:128813587-128813587
39 RAB7A NM_004637.5(RAB7A):c.277C>T (p.Pro93Ser) SNV Uncertain significance 343158 rs11549756 GRCh37: 3:128525311-128525311
GRCh38: 3:128806468-128806468
40 RAB7A NM_004637.5(RAB7A):c.*1161C>T SNV Uncertain significance 343183 rs886057952 GRCh37: 3:128533426-128533426
GRCh38: 3:128814583-128814583
41 RAB7A NM_004637.5(RAB7A):c.-154G>A SNV Uncertain significance 343152 rs886057939 GRCh37: 3:128445057-128445057
GRCh38: 3:128726214-128726214
42 RAB7A NM_004637.5(RAB7A):c.*183A>G SNV Uncertain significance 343166 rs774054837 GRCh37: 3:128532448-128532448
GRCh38: 3:128813605-128813605
43 RAB7A NM_004637.5(RAB7A):c.*700C>T SNV Uncertain significance 343172 rs886057946 GRCh37: 3:128532965-128532965
GRCh38: 3:128814122-128814122
44 RAB7A NM_004637.5(RAB7A):c.*1029A>G SNV Uncertain significance 343181 rs776759455 GRCh37: 3:128533294-128533294
GRCh38: 3:128814451-128814451
45 RAB7A NM_004637.5(RAB7A):c.*181G>A SNV Uncertain significance 343164 rs3206306 GRCh37: 3:128532446-128532446
GRCh38: 3:128813603-128813603
46 RAB7A NM_004637.5(RAB7A):c.*85A>G SNV Uncertain significance 343161 rs549333234 GRCh37: 3:128532350-128532350
GRCh38: 3:128813507-128813507
47 RAB7A NM_004637.5(RAB7A):c.*1301A>G SNV Uncertain significance 343184 rs182528613 GRCh37: 3:128533566-128533566
GRCh38: 3:128814723-128814723
48 RAB7A NM_004637.5(RAB7A):c.*1142G>A SNV Uncertain significance 343182 rs747470481 GRCh37: 3:128533407-128533407
GRCh38: 3:128814564-128814564
49 RAB7A , LOC112872299 NM_004637.5(RAB7A):c.577G>A (p.Asp193Asn) SNV Uncertain significance 464095 rs756968558 GRCh37: 3:128532218-128532218
GRCh38: 3:128813375-128813375
50 RAB7A NM_004637.6(RAB7A):c.-146G>C SNV Uncertain significance 899873 GRCh37: 3:128445065-128445065
GRCh38: 3:128726222-128726222

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

72
# 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

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:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 SBF2 RAB7B RAB7A RAB5A KIF1B GJB1
2
Show member pathways
12.45 RILP RAB7B RAB7A RAB5A DNM2
3
Show member pathways
12.23 RILP RAB7A RAB5A DNM2
4 12.18 ZFYVE27 RAB7A RAB5A DNM2
5 11.84 RAB7A RAB5A NEFL KIF1B DNM2
6 11.73 RILP RAB7A DNM2
7 11.71 RAB7B RAB7A RAB5A
8 11.67 RAB7B RAB7A RAB5A DNM2
9 11.64 RILP RAB7B RAB7A RAB5A
10 11.44 RAB7B RAB7A MFN2
11 11.36 RAB7B RAB7A RAB5A
12 11.17 RAB7B RAB7A RAB5A
13 10.88 SBF2 RAB7B RAB7A RAB5A
14 10.57 RILP RAB7A

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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.4 ZFYVE27 SPTLC1 SBF2 RILP RAB7B RAB7A
2 cytosol GO:0005829 10.3 ZFYVE27 SBF2 RNF115 RILP RAB7A RAB5A
3 cell projection GO:0042995 10 ZFYVE27 SBF2 RAB5A NEFL MTMR2 GARS1
4 cytoplasmic vesicle GO:0031410 9.91 SH3TC2 RILP RAB7B RAB7A RAB5A KIF1B
5 lysosome GO:0005764 9.88 RILP RAB7B RAB7A MPZ LITAF
6 endosome membrane GO:0010008 9.8 SBF2 RAB7A RAB5A MTMR2 LITAF FIG4
7 early endosome membrane GO:0031901 9.73 RAB5A MTMR2 LITAF FIG4
8 phagocytic vesicle GO:0045335 9.69 RAB7B RAB7A RAB5A
9 late endosome membrane GO:0031902 9.65 RILP RAB7B RAB7A LITAF FIG4
10 axon GO:0030424 9.56 ZFYVE27 SBF2 RAB5A NEFL MTMR2 KIF1B
11 phagocytic vesicle membrane GO:0030670 9.55 RILP RAB7B RAB7A RAB5A DNM2
12 cytoplasmic side of early endosome membrane GO:0098559 9.4 RAB5A LITAF
13 endosome GO:0005768 9.32 ZFYVE27 SBF2 RILP RAB7B RAB7A RAB5A

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 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.58 RILP RAB7A DNM2
2 phosphatidylinositol biosynthetic process GO:0006661 9.54 RAB5A MTMR2 FIG4
3 mitochondrial fission GO:0000266 9.46 GDAP1 DNM2
4 mitochondrial fusion GO:0008053 9.43 MFN2 GDAP1
5 phagosome-lysosome fusion GO:0090385 9.32 RAB7B RAB7A
6 negative regulation of myelination GO:0031642 9.26 MTMR2 FIG4
7 myelin assembly GO:0032288 9.16 MTMR2 FIG4
8 endosome to lysosome transport GO:0008333 9.13 RILP RAB7B RAB7A
9 early endosome to late endosome transport GO:0045022 8.8 RILP RAB7A RAB5A

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.13 ZFYVE27 SPTLC1 SH3TC2 SBF2 RNF115 RILP
2 GTP binding GO:0005525 9.35 RAB7B RAB7A RAB5A MFN2 DNM2
3 phosphatidylinositol-3-phosphatase activity GO:0004438 9.26 MTMR2 FIG4
4 GTPase activity GO:0003924 9.02 RAB7B RAB7A RAB5A MFN2 DNM2

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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