CMT2F
MCID: CHR352
MIFTS: 36

Charcot-Marie-Tooth Disease, Axonal, Type 2f (CMT2F)

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

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

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

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2f 57 13 72
Cmt2f 57 12 59 74
Charcot-Marie-Tooth Disease Axonal Type 2f 12 74 15
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f 12 59
Charcot-Marie-Tooth Neuropathy Type 2f 12 74
Charcot-Marie-Tooth Disease, Neuronal, Type 2f 57
Charcot-Marie-Tooth Disease Neuronal Type 2f 74
Charcot-Marie-Tooth Neuropathy, Type 2f 57
Charcot-Marie-Tooth Neuronal Type 2f 12
Charcot-Marie-Tooth Disease 2f 74

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant charcot-marie-tooth disease type 2f
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Elderly;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
usually begins in feet and legs (peroneal distribution)
variable age at onset (range 15 to 60 years)
genetic heterogeneity (see cmt2a, )


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110163
MeSH 44 D002607
ICD10 33 G60.0
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 73 C1847823
Orphanet 59 ORPHA99940
MedGen 42 C1847823
UMLS 72 C1847823

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

UniProtKB/Swiss-Prot : 74 Charcot-Marie-Tooth disease 2F: 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. Onset of Charcot-Marie-Tooth disease type 2F is between 15 and 25 years with muscle weakness and atrophy usually beginning in feet and legs (peroneal distribution). Upper limb involvement occurs later.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2f, also known as cmt2f, is related to tooth disease and charcot-marie-tooth disease, and has symptoms including muscular fasciculation and muscle cramp. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2f is HSPB1 (Heat Shock Protein Family B (Small) Member 1). Related phenotypes are reduced tendon reflexes and talipes equinovarus

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1).

More information from OMIM: 606595 PS118220

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

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

(show all 24)
# Related Disease Score Top Affiliating Genes
1 tooth disease 29.0 NEFL MPZ KIF1B HSPB1
2 charcot-marie-tooth disease 28.3 NEFL MPZ KIF1B HSPB1 GAN
3 charcot-marie-tooth disease type 2f 12.0
4 neuropathy 10.5
5 neuronopathy, distal hereditary motor, type iib 10.2
6 distal hereditary motor neuronopathy type 2 10.2
7 charcot-marie-tooth disease, axonal, type 2j 10.0 MPZ KIF1B
8 charcot-marie-tooth disease, axonal, type 2i 10.0 MPZ KIF1B
9 charcot-marie-tooth disease, axonal, type 2d 9.9 MPZ KIF1B
10 charcot-marie-tooth disease, demyelinating, type 1b 9.9 MPZ KIF1B
11 charcot-marie-tooth disease, axonal, type 2b 9.9 MPZ KIF1B
12 charcot-marie-tooth disease, demyelinating, type 1f 9.9 NEFL MPZ
13 motor peripheral neuropathy 9.9 MPZ KIF1B
14 charcot-marie-tooth disease, demyelinating, type 1a 9.9 MPZ KIF1B
15 hereditary motor and sensory neuropathy, type iic 9.8 MPZ KIF1B
16 neuropathy, hereditary, with liability to pressure palsies 9.8 MPZ KIF1B
17 giant axonal neuropathy 9.8 NEFL GAN
18 charcot-marie-tooth disease and deafness 9.6 MPZ KIF1B
19 charcot-marie-tooth disease, axonal, type 2l 9.6 MPZ KIF1B HSPB1
20 charcot-marie-tooth disease, demyelinating, type 1c 9.5 NEFL MPZ KIF1B
21 hypertrophic neuropathy of dejerine-sottas 9.4 MPZ KIF1B
22 charcot-marie-tooth disease, demyelinating, type 1d 9.2 MPZ KIF1B KCNH6
23 peripheral nervous system disease 9.0 NEFL MPZ KIF1B GAN
24 charcot-marie-tooth disease, axonal, type 2e 8.3 NEFL MPZ KIF1B KCNH6 GAN

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



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

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

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

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced tendon reflexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001315
2 talipes equinovarus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001762
3 impaired pain sensation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007328
4 lower limb muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0007340
5 peripheral axonal neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003477
6 steppage gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0003376
7 impaired temperature sensation 59 32 hallmark (90%) Very frequent (99-80%) HP:0010829
8 distal lower limb amyotrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008944
9 limb fasciculations 59 32 hallmark (90%) Very frequent (99-80%) HP:0007289
10 upper limb amyotrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009129
11 emg: chronic denervation signs 59 32 hallmark (90%) Very frequent (99-80%) HP:0003444
12 areflexia 32 HP:0001284
13 pes cavus 32 HP:0001761
14 decreased motor nerve conduction velocity 32 HP:0003431
15 fasciculations 32 HP:0002380
16 split hand 32 HP:0001171
17 hyporeflexia 32 HP:0001265
18 distal amyotrophy 32 HP:0003693
19 foot dorsiflexor weakness 32 HP:0009027
20 distal muscle weakness 32 HP:0002460
21 distal sensory impairment 32 HP:0002936
22 emg: neuropathic changes 59 Very frequent (99-80%)
23 chronic axonal neuropathy 32 HP:0007267
24 muscle spasm 32 HP:0003394
25 ulnar claw 32 HP:0001178

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
areflexia
muscle cramps
fasciculations
hyporeflexia
distal sensory impairment
more
Skeletal Hands:
claw hand deformities (in severe cases)

Skeletal Feet:
pes cavus

Clinical features from OMIM:

606595

UMLS symptoms related to Charcot-Marie-Tooth Disease, Axonal, Type 2f:


muscular fasciculation, muscle cramp

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

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

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

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

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

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

(show all 26)
# Title Authors PMID Year
1
Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1. 38 8 71
17881652 2007
2
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. 38 8 71
15122254 2004
3
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. 38 8 71
11528513 2001
4
Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease. 8 71
16087758 2005
5
HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease. 8
21785432 2011
6
Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. 71
18832141 2008
7
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 71
20301532 1998
8
Charcot-Marie-Tooth Neuropathy Type 2 71
20301462 1998
9
Charcot-Marie-Tooth 2F (Hsp27 mutations): A review. 38
31212070 2019
10
HSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons. 38
28797631 2017
11
A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family. 38
28828227 2017
12
Characterization of New Transgenic Mouse Models for Two Charcot-Marie-Tooth-Causing HspB1 Mutations using the Rosa26 Locus. 38
27854215 2016
13
Bicyclic-Capped Histone Deacetylase 6 Inhibitors with Improved Activity in a Model of Axonal Charcot-Marie-Tooth Disease. 38
26599234 2016
14
HDAC6 Inhibitors Rescued the Defective Axonal Mitochondrial Movement in Motor Neurons Derived from the Induced Pluripotent Stem Cells of Peripheral Neuropathy Patients with HSPB1 Mutation. 38
28105056 2016
15
[Therapy for Charcot-Marie-Tooth Disease: From the Standpoint of Neurologists]. 38
26764298 2016
16
Overexpression of mutant HSP27 causes axonal neuropathy in mice. 38
26141737 2015
17
Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease. 38
24505562 2013
18
Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments. 38
23728742 2013
19
Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in mice. 38
22521462 2012
20
Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation. 38
18587268 2008
21
[Distal hereditary motor neuropathy type II with mutation in heat shock protein 27 gene. A case report]. 38
17491338 2007
22
Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. 38
16043786 2005
23
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24. 38
15021985 2004
24
Genetic evaluation of inherited motor/sensory neuropathy. 38
16106622 2004
25
Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity. 38
14557576 2003
26
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. 38
12481988 2002

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

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

6 (show top 50) (show all 64)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HSPB1 NM_001540.5(HSPB1): c.539C> T (p.Thr180Ile) single nucleotide variant Pathogenic rs1422978230 7:75933411-75933411 7:76304094-76304094
2 HSPB1 NM_001540.5(HSPB1): c.116C> T (p.Pro39Leu) single nucleotide variant Pathogenic rs557327165 7:75932145-75932145 7:76302828-76302828
3 HSPB1 NM_001540.5(HSPB1): c.404C> A (p.Ser135Tyr) single nucleotide variant Pathogenic rs28939680 7:75933158-75933158 7:76303841-76303841
4 HSPB1 NM_001540.5(HSPB1): c.379C> T (p.Arg127Trp) single nucleotide variant Pathogenic rs29001571 7:75933133-75933133 7:76303816-76303816
5 HSPB1 NM_001540.5(HSPB1): c.452C> T (p.Thr151Ile) single nucleotide variant Pathogenic rs28937568 7:75933324-75933324 7:76304007-76304007
6 HSPB1 NM_001540.5(HSPB1): c.406C> T (p.Arg136Trp) single nucleotide variant Pathogenic rs28939681 7:75933160-75933160 7:76303843-76303843
7 HSPB1 NM_001540.5(HSPB1): c.544C> T (p.Pro182Ser) single nucleotide variant Pathogenic rs104894020 7:75933416-75933416 7:76304099-76304099
8 HSPB1 NM_001540.5(HSPB1): c.418C> G (p.Arg140Gly) single nucleotide variant Pathogenic rs121909112 7:75933172-75933172 7:76303855-76303855
9 HSPB1 NM_001540.5(HSPB1): c.250G> C (p.Gly84Arg) single nucleotide variant Pathogenic rs770272088 7:75932279-75932279 7:76302962-76302962
10 HSPB1 NM_001540.5(HSPB1): c.407G> T (p.Arg136Leu) single nucleotide variant Pathogenic/Likely pathogenic rs863225022 7:75933161-75933161 7:76303844-76303844
11 HSPB1 NM_001540.5(HSPB1): c.523C> T (p.Gln175Ter) single nucleotide variant Pathogenic/Likely pathogenic rs863225023 7:75933395-75933395 7:76304078-76304078
12 HSPB1 NC_000007.13: g.(?_75933119)_(75933490_?)del deletion Likely pathogenic 7:75933119-75933490 7:76303802-76304173
13 HSPB1 NM_001540.5(HSPB1): c.45C> A (p.Ser15Arg) single nucleotide variant Likely pathogenic rs780878780 7:75932074-75932074 7:76302757-76302757
14 HSPB1 NC_000007.13: g.(?_75933099)_(75933510_?)del deletion Likely pathogenic 7:75933099-75933510 7:76303782-76304193
15 HSPB1 NM_001540.5(HSPB1): c.522_523delinsCT (p.Gln175Ter) indel Likely pathogenic rs1060503021 7:75933394-75933395 7:76304077-76304078
16 HSPB1 NM_001540.5(HSPB1): c.532G> T (p.Glu178Ter) single nucleotide variant Likely pathogenic rs150110356 7:75933404-75933404 7:76304087-76304087
17 HSPB1 NM_001540.5(HSPB1): c.512del (p.Lys171fs) deletion Conflicting interpretations of pathogenicity rs1554614680 7:75933383-75933383 7:76304066-76304066
18 HSPB1 NM_001540.5(HSPB1): c.404C> T (p.Ser135Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs28939680 7:75933158-75933158 7:76303841-76303841
19 HSPB1 NM_001540.5(HSPB1): c.80G> C (p.Arg27Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs367662394 7:75932109-75932109 7:76302792-76302792
20 HSPB1 NM_001540.5(HSPB1): c.24C> T (p.Phe8=) single nucleotide variant Conflicting interpretations of pathogenicity rs201769668 7:75932053-75932053 7:76302736-76302736
21 HSPB1 NM_001540.5(HSPB1): c.383A> G (p.Gln128Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs558882005 7:75933137-75933137 7:76303820-76303820
22 HSPB1 NM_001540.5(HSPB1): c.20C> G (p.Pro7Arg) single nucleotide variant Uncertain significance 7:75932049-75932049 7:76302732-76302732
23 HSPB1 NM_001540.5(HSPB1): c.364G> A (p.Gly122Ser) single nucleotide variant Uncertain significance 7:75932393-75932393 7:76303076-76303076
24 HSPB1 NM_001540.5(HSPB1): c.403T> G (p.Ser135Ala) single nucleotide variant Uncertain significance 7:75933157-75933157 7:76303840-76303840
25 HSPB1 NM_001540.5(HSPB1): c.37G> A (p.Gly13Ser) single nucleotide variant Uncertain significance 7:75932066-75932066 7:76302749-76302749
26 HSPB1 NC_000007.13: g.(?_75931813)_(75933510_?)dup duplication Uncertain significance 7:75931813-75933510 7:76302496-76304193
27 HSPB1 NM_001540.5(HSPB1): c.17T> C (p.Val6Ala) single nucleotide variant Uncertain significance 7:75932046-75932046 7:76302729-76302729
28 HSPB1 NM_001540.5(HSPB1): c.80G> T (p.Arg27Leu) single nucleotide variant Uncertain significance 7:75932109-75932109 7:76302792-76302792
29 HSPB1 NM_001540.5(HSPB1): c.286C> A (p.Arg96Ser) single nucleotide variant Uncertain significance 7:75932315-75932315 7:76302998-76302998
30 HSPB1 NM_001540.5(HSPB1): c.398A> G (p.Tyr133Cys) single nucleotide variant Uncertain significance 7:75933152-75933152 7:76303835-76303835
31 HSPB1 NM_001540.5(HSPB1): c.428C> A (p.Thr143Lys) single nucleotide variant Uncertain significance 7:75933182-75933182 7:76303865-76303865
32 HSPB1 NM_001540.5(HSPB1): c.539C> G (p.Thr180Ser) single nucleotide variant Uncertain significance 7:75933411-75933411 7:76304094-76304094
33 HSPB1 NM_001540.5(HSPB1): c.607_609GCC[1] (p.Ala204del) short repeat Uncertain significance 7:75933479-75933481 7:76304162-76304164
34 HSPB1 NM_001540.5(HSPB1): c.610G> T (p.Ala204Ser) single nucleotide variant Uncertain significance 7:75933482-75933482 7:76304165-76304165
35 HSPB1 NM_001540.5(HSPB1): c.610G> A (p.Ala204Thr) single nucleotide variant Uncertain significance rs367857772 7:75933482-75933482 7:76304165-76304165
36 HSPB1 NM_001540.5(HSPB1): c.572_584del (p.Leu191fs) deletion Uncertain significance rs771457306 7:75933444-75933456 7:76304127-76304139
37 HSPB1 NM_001540.5(HSPB1): c.365-6C> G single nucleotide variant Uncertain significance rs200902768 7:75933113-75933113 7:76303796-76303796
38 HSPB1 NM_001540.5(HSPB1): c.369G> C (p.Lys123Asn) single nucleotide variant Uncertain significance rs755233365 7:75933123-75933123 7:76303806-76303806
39 HSPB1 NM_001540.5(HSPB1): c.380G> A (p.Arg127Gln) single nucleotide variant Uncertain significance rs587781250 7:75933134-75933134 7:76303817-76303817
40 HSPB1 NM_001540.5(HSPB1): c.554T> C (p.Phe185Ser) single nucleotide variant Uncertain significance rs777225392 7:75933426-75933426 7:76304109-76304109
41 HSPB1 NM_001540.5(HSPB1): c.29T> A (p.Leu10His) single nucleotide variant Uncertain significance rs772216758 7:75932058-75932058 7:76302741-76302741
42 HSPB1 NM_001540.5(HSPB1): c.305A> T (p.Asn102Ile) single nucleotide variant Uncertain significance rs765142574 7:75932334-75932334 7:76303017-76303017
43 HSPB1 NM_001540.5(HSPB1): c.277G> A (p.Asp93Asn) single nucleotide variant Uncertain significance rs777201941 7:75932306-75932306 7:76302989-76302989
44 HSPB1 NM_001540.5(HSPB1): c.16G> A (p.Val6Ile) single nucleotide variant Uncertain significance rs1049324 7:75932045-75932045 7:76302728-76302728
45 HSPB1 NM_001540.5(HSPB1): c.266G> A (p.Arg89Gln) single nucleotide variant Uncertain significance rs1060503022 7:75932295-75932295 7:76302978-76302978
46 HSPB1 NM_001540.5(HSPB1): c.202G> C (p.Val68Leu) single nucleotide variant Uncertain significance rs757158514 7:75932231-75932231 7:76302914-76302914
47 HSPB1 NM_001540.5(HSPB1): c.372C> G (p.His124Gln) single nucleotide variant Uncertain significance rs145243219 7:75933126-75933126 7:76303809-76303809
48 HSPB1 NM_001540.5(HSPB1): c.373_375GAG[1] (p.Glu126del) short repeat Uncertain significance rs1554614633 7:75933130-75933132 7:76303813-76303815
49 HSPB1 NM_001540.5(HSPB1): c.451A> C (p.Thr151Pro) single nucleotide variant Uncertain significance rs771232749 7:75933323-75933323 7:76304006-76304006
50 HSPB1 NM_001540.5(HSPB1): c.139G> A (p.Gly47Ser) single nucleotide variant Uncertain significance rs778311776 7:75932168-75932168 7:76302851-76302851

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

74
# Symbol AA change Variation ID SNP ID
1 HSPB1 p.Ser135Phe VAR_018507 rs28939680
2 HSPB1 p.Arg136Trp VAR_018508 rs28939681
3 HSPB1 p.Thr164Ala VAR_067085
4 HSPB1 p.Pro39Leu VAR_077484 rs557327165
5 HSPB1 p.Arg136Leu VAR_077488 rs863225022

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

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

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

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

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

# Name GO ID Score Top Affiliating Genes
1 axon cytoplasm GO:1904115 8.8 NEFL KIF1B HSPB1
2 myelin sheath GO:0043209 8.65 MPZ

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

# Name GO ID Score Top Affiliating Genes
1 anterograde axonal transport GO:0008089 8.62 NEFL KIF1B

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

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
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