CMT2F
MCID: CHR352
MIFTS: 44

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 56 52 13 71
Cmt2f 56 12 58 73
Charcot-Marie-Tooth Disease Axonal Type 2f 12 73 15
Charcot-Marie-Tooth Disease Type 2f 52 29 6
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f 12 58
Charcot-Marie-Tooth Disease, Neuronal, Type 2f 56 52
Charcot-Marie-Tooth Neuropathy, Type 2f 56 52
Charcot-Marie-Tooth Neuropathy Type 2f 12 73
Charcot-Marie-Tooth Disease Neuronal Type 2f 73
Charcot-Marie-Tooth Neuronal Type 2f 12
Charcot-Marie-Tooth Disease, Type 2f 39
Charcot Marie Tooth Disease Type 2f 52
Charcot-Marie-Tooth Disease 2f 73
Cmt 2f 52

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant charcot-marie-tooth disease type 2f
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Elderly;

OMIM:

56
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:

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


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110163
OMIM 56 606595
OMIM Phenotypic Series 56 PS118220
MeSH 43 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C1847823
Orphanet 58 ORPHA99940
MedGen 41 C1847823
UMLS 71 C1847823

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

UniProtKB/Swiss-Prot : 73 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 distal hereditary motor neuronopathy type 2 and neuropathy, 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). Affiliated tissues include kidney, liver and skin, and 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).

NIH Rare Diseases : 52 Charcot-Marie-Tooth disease type 2F (CMT2F) is a genetic disorder of the peripheral nerves. The subtypes of CMT type 2 (including type 2F) have similar features and are distinguished only by their disease-causing genes . Signs and symptoms usually begin between the ages of 5 and 25 and typically include slowly progressive weakness and atrophy of distal muscles in the feet and/or hands, usually associated with decreased tendon reflexes and mild or no sensory loss. Nerve conduction velocities are usually normal or near-normal. CMT2F is caused by mutations in the HSPB1 gene and is inherited in an autosomal dominant manner. Management may include occupational and physical therapy ; special shoes; surgery as needed; mobility aids; and other supportive treatments.

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 top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 distal hereditary motor neuronopathy type 2 30.2 HSPB8 HSPB3 HSPB1
2 neuropathy 27.4 SPTLC1 NEFL MTMR2 MPZ MFN2 HSPB8
3 tooth disease 27.1 NEFL MTMR2 MPZ MFN2 KIF1B HSPB8
4 charcot-marie-tooth disease 25.3 SPTLC1 NEFL MTMR2 MPZ MFN2 KIF1B
5 charcot-marie-tooth disease type 2a 10.3 MFN2 KIF1B
6 charcot-marie-tooth neuropathy type 2a 10.2 MFN2 KIF1B
7 charcot-marie-tooth disease, dominant intermediate d 10.2 MPZ KIF1B
8 argyll robertson pupil 10.2 MPZ GDAP1
9 neuronopathy, distal hereditary motor, type iib 10.2
10 abnormal pupillary function 10.2 MPZ GDAP1
11 pupil disease 10.2 MPZ GDAP1
12 spinal muscular atrophy 10.1 NEFL HSPB8 GARS1
13 charcot-marie-tooth disease, recessive intermediate a 10.1 MFN2 GDAP1
14 charcot-marie-tooth disease, axonal, type 2b1 10.1 MFN2 GDAP1
15 charcot-marie-tooth disease x-linked recessive 4 10.0 MPZ GJB1
16 charcot-marie-tooth disease, x-linked recessive, 2 10.0 MPZ GJB1
17 autoimmune peripheral neuropathy 10.0 MPZ GJB1
18 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.9 MPZ GJB1
19 optic nerve disease 9.9 NEFL MFN2 GDAP1
20 charcot-marie-tooth disease, axonal, type 2q 9.9 MPZ GJB1
21 charcot-marie-tooth disease, dominant intermediate a 9.8 MPZ GJB1 GDAP1
22 waardenburg syndrome, type 4a 9.8 MPZ GJB1
23 neuropathy, hereditary sensory and autonomic, type iia 9.8 SPTLC1 MFN2 GDAP1
24 hereditary sensory and autonomic neuropathy type 1 9.8 SPTLC1 GDAP1
25 charcot-marie-tooth disease, axonal, type 2n 9.8 MFN2 KIF1B GDAP1 GARS1
26 charcot-marie-tooth disease, type 4b3 9.8 MTMR2 GDAP1
27 axonal neuropathy 9.7 NEFL MFN2 GDAP1 GARS1
28 charcot-marie-tooth disease, axonal, type 2a1 9.7 MPZ MFN2 KIF1B GDAP1
29 polycystic kidney disease 3 with or without polycystic liver disease 9.7 HSPB3 HSPB2 HSPB1
30 charcot-marie-tooth disease, dominant intermediate c 9.7 SPTLC1 MPZ GDAP1 GARS1
31 alexander disease 9.7 HSPB3 HSPB2 HSPB1
32 charcot-marie-tooth disease, type 4j 9.7 MTMR2 GDAP1
33 motor neuron disease 9.6 NEFL HSPB1 GARS1
34 charcot-marie-tooth disease, dominant intermediate e 9.6 MTMR2 MPZ GDAP1
35 spinal muscular atrophy, distal, autosomal recessive, 2 9.6 MFN2 HSPB8 HSPB3 GARS1
36 charcot-marie-tooth disease, type 4h 9.6 MTMR2 MPZ GDAP1
37 charcot-marie-tooth disease, type 4b1 9.6 MTMR2 MPZ GDAP1
38 charcot-marie-tooth disease, axonal, type 2cc 9.6 NEFL MPZ MFN2 GJB1
39 polyneuropathy 9.5 MPZ MFN2 GJB1 GDAP1
40 motor peripheral neuropathy 9.5 NEFL HSPB8 GJB1 GDAP1 GARS1
41 charcot-marie-tooth disease, axonal, type 2b2 9.5 NEFL MPZ MFN2 KIF1B GDAP1
42 muscular disease 9.5 MTMR2 MFN2 HSPB8 GARS1
43 intraocular pressure quantitative trait locus 9.4 MTMR2 HSPB2 HSPB1
44 charcot-marie-tooth disease, demyelinating, type 1f 9.3 NEFL MTMR2 MPZ GJB1
45 charcot-marie-tooth disease, demyelinating, type 4f 9.2 MTMR2 MPZ GJB1 GDAP1
46 charcot-marie-tooth disease, dominant intermediate b 9.2 MTMR2 MPZ GJB1 GDAP1
47 charcot-marie-tooth disease, type 4b2 9.2 MTMR2 MPZ GJB1 GDAP1
48 charcot-marie-tooth disease, type 4d 9.2 MTMR2 MPZ GJB1 GDAP1
49 charcot-marie-tooth disease, demyelinating, type 1d 9.0 MTMR2 MPZ KIF1B GJB1 GDAP1
50 hereditary neuropathies 9.0 MTMR2 MPZ MFN2 HSPB1 GJB1

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:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced tendon reflexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001315
2 talipes equinovarus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001762
3 impaired pain sensation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007328
4 impaired temperature sensation 58 31 hallmark (90%) Very frequent (99-80%) HP:0010829
5 lower limb muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0007340
6 peripheral axonal neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003477
7 steppage gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0003376
8 distal lower limb amyotrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008944
9 limb fasciculations 58 31 hallmark (90%) Very frequent (99-80%) HP:0007289
10 upper limb amyotrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009129
11 emg: chronic denervation signs 58 31 hallmark (90%) Very frequent (99-80%) HP:0003444
12 areflexia 31 HP:0001284
13 pes cavus 31 HP:0001761
14 decreased motor nerve conduction velocity 31 HP:0003431
15 fasciculations 31 HP:0002380
16 hyporeflexia 31 HP:0001265
17 split hand 31 HP:0001171
18 distal amyotrophy 31 HP:0003693
19 foot dorsiflexor weakness 31 HP:0009027
20 distal muscle weakness 31 HP:0002460
21 distal sensory impairment 31 HP:0002936
22 emg: neuropathic changes 58 Very frequent (99-80%)
23 chronic axonal neuropathy 31 HP:0007267
24 muscle spasm 31 HP:0003394
25 ulnar claw 31 HP:0001178

Symptoms via clinical synopsis from OMIM:

56
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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 GARS1 GDAP1 GJB1 HSPB2 KIF1B MFN2
2 homeostasis/metabolism MP:0005376 9.61 GDAP1 GJB1 HSPB1 HSPB3 HSPB8 KIF1B
3 nervous system MP:0003631 9.28 GARS1 GDAP1 GJB1 KIF1B MFN2 MPZ

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

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 2f 29 HSPB1

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

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

40
Kidney, Liver, Skin

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

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

(show all 27)
# 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. 61 56 6
17881652 2007
2
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. 61 56 6
15122254 2004
3
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. 61 56 6
11528513 2001
4
Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease. 56 6
16087758 2005
5
HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease. 56
21785432 2011
6
Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. 6
18832141 2008
7
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
8
Charcot-Marie-Tooth Neuropathy Type 2 6
20301462 1998
9
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center. 61
31902012 2020
10
Charcot-Marie-Tooth 2F (Hsp27 mutations): A review. 61
31212070 2019
11
HSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons. 61
28797631 2017
12
A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family. 61
28828227 2017
13
Characterization of New Transgenic Mouse Models for Two Charcot-Marie-Tooth-Causing HspB1 Mutations using the Rosa26 Locus. 61
27854215 2016
14
Bicyclic-Capped Histone Deacetylase 6 Inhibitors with Improved Activity in a Model of Axonal Charcot-Marie-Tooth Disease. 61
26599234 2016
15
[Therapy for Charcot-Marie-Tooth Disease: From the Standpoint of Neurologists]. 61
26764298 2016
16
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. 61
28105056 2016
17
Overexpression of mutant HSP27 causes axonal neuropathy in mice. 61
26141737 2015
18
Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease. 61
24505562 2013
19
Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments. 61
23728742 2013
20
Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in mice. 61
22521462 2012
21
Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation. 61
18587268 2008
22
[Distal hereditary motor neuropathy type II with mutation in heat shock protein 27 gene. A case report]. 61
17491338 2007
23
Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. 61
16043786 2005
24
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24. 61
15021985 2004
25
Genetic evaluation of inherited motor/sensory neuropathy. 61
16106622 2004
26
Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity. 61
14557576 2003
27
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. 61
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 all 49) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HSPB1 NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp)SNV Pathogenic 7479 rs29001571 7:75933133-75933133 7:76303816-76303816
2 HSPB1 NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile)SNV Pathogenic 7480 rs28937568 7:75933324-75933324 7:76304007-76304007
3 HSPB1 NM_001540.5(HSPB1):c.406C>T (p.Arg136Trp)SNV Pathogenic 7482 rs28939681 7:75933160-75933160 7:76303843-76303843
4 HSPB1 NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser)SNV Pathogenic 7483 rs104894020 7:75933416-75933416 7:76304099-76304099
5 HSPB1 NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly)SNV Pathogenic 7484 rs121909112 7:75933172-75933172 7:76303855-76303855
6 HSPB1 NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)SNV Pathogenic 220419 rs770272088 7:75932279-75932279 7:76302962-76302962
7 HSPB1 NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile)SNV Pathogenic 447531 rs1422978230 7:75933411-75933411 7:76304094-76304094
8 HSPB1 NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu)SNV Pathogenic 533814 rs557327165 7:75932145-75932145 7:76302828-76302828
9 HSPB1 NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr)SNV Pathogenic 533813 rs28939680 7:75933158-75933158 7:76303841-76303841
10 HSPB1 NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)SNV Pathogenic/Likely pathogenic 217230 rs863225022 7:75933161-75933161 7:76303844-76303844
11 HSPB1 NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter)SNV Pathogenic/Likely pathogenic 217231 rs863225023 7:75933395-75933395 7:76304078-76304078
12 HSPB1 NM_001540.5(HSPB1):c.522_523delinsCT (p.Gln175Ter)indel Likely pathogenic 410713 rs1060503021 7:75933394-75933395 7:76304077-76304078
13 HSPB1 NM_001540.5(HSPB1):c.45C>A (p.Ser15Arg)SNV Likely pathogenic 523077 rs780878780 7:75932074-75932074 7:76302757-76302757
14 HSPB1 NC_000007.13:g.(?_75933099)_(75933510_?)deldeletion Likely pathogenic 533819 7:75933099-75933510 7:76303782-76304193
15 HSPB1 NM_001540.5(HSPB1):c.532G>T (p.Glu178Ter)SNV Likely pathogenic 465276 rs150110356 7:75933404-75933404 7:76304087-76304087
16 HSPB1 NC_000007.13:g.(?_75933119)_(75933490_?)deldeletion Likely pathogenic 584236 7:75933119-75933490 7:76303802-76304173
17 HSPB1 NM_001540.5(HSPB1):c.512del (p.Lys171fs)deletion Conflicting interpretations of pathogenicity 439794 rs1554614680 7:75933383-75933383 7:76304066-76304066
18 HSPB1 NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe)SNV Conflicting interpretations of pathogenicity 7478 rs28939680 7:75933158-75933158 7:76303841-76303841
19 HSPB1 NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg)SNV Conflicting interpretations of pathogenicity 360738 rs558882005 7:75933137-75933137 7:76303820-76303820
20 HSPB1 NM_001540.5(HSPB1):c.266G>A (p.Arg89Gln)SNV Uncertain significance 410714 rs1060503022 7:75932295-75932295 7:76302978-76302978
21 HSPB1 NM_001540.5(HSPB1):c.202G>C (p.Val68Leu)SNV Uncertain significance 410716 rs757158514 7:75932231-75932231 7:76302914-76302914
22 HSPB1 NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile)SNV Uncertain significance 447528 rs765142574 7:75932334-75932334 7:76303017-76303017
23 HSPB1 NM_001540.5(HSPB1):c.29T>A (p.Leu10His)SNV Uncertain significance 465270 rs772216758 7:75932058-75932058 7:76302741-76302741
24 HSPB1 NM_001540.5(HSPB1):c.257C>T (p.Ser86Leu)SNV Uncertain significance 465269 rs749378020 7:75932286-75932286 7:76302969-76302969
25 HSPB1 NM_001540.5(HSPB1):c.229C>T (p.Leu77Phe)SNV Uncertain significance 465268 rs1231796327 7:75932258-75932258 7:76302941-76302941
26 HSPB1 NM_001540.5(HSPB1):c.572_584del (p.Leu191fs)deletion Uncertain significance 503828 rs771457306 7:75933444-75933456 7:76304127-76304139
27 HSPB1 NM_001540.5(HSPB1):c.554T>C (p.Phe185Ser)SNV Uncertain significance 465277 rs777225392 7:75933426-75933426 7:76304109-76304109
28 HSPB1 NM_001540.5(HSPB1):c.372C>G (p.His124Gln)SNV Uncertain significance 465273 rs145243219 7:75933126-75933126 7:76303809-76303809
29 HSPB1 NM_001540.5(HSPB1):c.373_375GAG[1] (p.Glu126del)short repeat Uncertain significance 465274 rs1554614633 7:75933127-75933129 7:76303810-76303812
30 HSPB1 NM_001540.5(HSPB1):c.451A>C (p.Thr151Pro)SNV Uncertain significance 465275 rs771232749 7:75933323-75933323 7:76304006-76304006
31 HSPB1 NM_001540.5(HSPB1):c.139G>A (p.Gly47Ser)SNV Uncertain significance 465266 rs778311776 7:75932168-75932168 7:76302851-76302851
32 HSPB1 NM_001540.5(HSPB1):c.20C>G (p.Pro7Arg)SNV Uncertain significance 581452 rs1405359814 7:75932049-75932049 7:76302732-76302732
33 HSPB1 NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser)SNV Uncertain significance 581650 rs780988351 7:75932393-75932393 7:76303076-76303076
34 HSPB1 NM_001540.5(HSPB1):c.403T>G (p.Ser135Ala)SNV Uncertain significance 565333 rs766728475 7:75933157-75933157 7:76303840-76303840
35 HSPB1 NM_001540.5(HSPB1):c.37G>A (p.Gly13Ser)SNV Uncertain significance 570184 rs1475184454 7:75932066-75932066 7:76302749-76302749
36 HSPB1 NC_000007.13:g.(?_75931813)_(75933510_?)dupduplication Uncertain significance 583803 7:75931813-75933510 7:76302496-76304193
37 HSPB1 NM_001540.5(HSPB1):c.17T>C (p.Val6Ala)SNV Uncertain significance 650957 7:75932046-75932046 7:76302729-76302729
38 HSPB1 NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu)SNV Uncertain significance 643281 7:75932109-75932109 7:76302792-76302792
39 HSPB1 NM_001540.5(HSPB1):c.286C>A (p.Arg96Ser)SNV Uncertain significance 653204 7:75932315-75932315 7:76302998-76302998
40 HSPB1 NM_001540.5(HSPB1):c.398A>G (p.Tyr133Cys)SNV Uncertain significance 660120 7:75933152-75933152 7:76303835-76303835
41 HSPB1 NM_001540.5(HSPB1):c.428C>A (p.Thr143Lys)SNV Uncertain significance 642232 7:75933182-75933182 7:76303865-76303865
42 HSPB1 NM_001540.5(HSPB1):c.539C>G (p.Thr180Ser)SNV Uncertain significance 652095 7:75933411-75933411 7:76304094-76304094
43 HSPB1 NM_001540.5(HSPB1):c.607_609GCC[1] (p.Ala204del)short repeat Uncertain significance 662000 7:75933479-75933481 7:76304162-76304164
44 HSPB1 NM_001540.5(HSPB1):c.610G>T (p.Ala204Ser)SNV Uncertain significance 642419 7:75933482-75933482 7:76304165-76304165
45 HSPB1 NM_001540.5(HSPB1):c.369G>C (p.Lys123Asn)SNV Uncertain significance 533812 rs755233365 7:75933123-75933123 7:76303806-76303806
46 HSPB1 NM_001540.5(HSPB1):c.380G>A (p.Arg127Gln)SNV Uncertain significance 533815 rs587781250 7:75933134-75933134 7:76303817-76303817
47 HSPB1 NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr)SNV Uncertain significance 216545 rs367857772 7:75933482-75933482 7:76304165-76304165
48 HSPB1 NM_001540.5(HSPB1):c.243C>T (p.Leu81=)SNV Likely benign 533817 rs1478776061 7:75932272-75932272 7:76302955-76302955
49 HSPB1 NM_001540.5(HSPB1):c.204G>C (p.Val68=)SNV Likely benign 465267 rs1554614462 7:75932233-75932233 7:76302916-76302916

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

73
# 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 cytoplasm GO:0005737 9.85 NEFL MTMR2 KIF1B HSPB8 HSPB3 HSPB2
2 axon GO:0030424 9.26 NEFL MTMR2 KIF1B GARS1
3 axon cytoplasm GO:1904115 8.8 NEFL KIF1B HSPB1

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 9.26 NEFL KIF1B
2 protein targeting to mitochondrion GO:0006626 9.16 MFN2 GDAP1
3 mitochondrial fusion GO:0008053 8.96 MFN2 GDAP1
4 response to unfolded protein GO:0006986 8.92 MFN2 HSPB3 HSPB2 HSPB1

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.02 NEFL MTMR2 HSPB8 HSPB1 GARS1

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 HMDB
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61 PubMed
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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