CMT2F
MCID: CHR352
MIFTS: 33

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 58 13 74
Cmt2f 58 12 60 76
Charcot-Marie-Tooth Disease Axonal Type 2f 12 76 15
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f 12 60
Charcot-Marie-Tooth Neuropathy Type 2f 12 76
Charcot-Marie-Tooth Disease, Neuronal, Type 2f 58
Charcot-Marie-Tooth Disease Neuronal Type 2f 76
Charcot-Marie-Tooth Neuropathy, Type 2f 58
Charcot-Marie-Tooth Neuronal Type 2f 12
Charcot-Marie-Tooth Disease, Type 2f 41
Charcot-Marie-Tooth Disease 2f 76

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant charcot-marie-tooth disease type 2f
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Elderly;

OMIM:

58
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:

33
charcot-marie-tooth disease, axonal, type 2f:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110163
OMIM 58 606595
MeSH 45 D002607
ICD10 34 G60.0
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C1847823
Orphanet 60 ORPHA99940
MedGen 43 C1847823
UMLS 74 C1847823

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

UniProtKB/Swiss-Prot : 76 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).

Description from OMIM: 606595

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
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 22)
# Related Disease Score Top Affiliating Genes
1 tooth disease 29.2 HSPB1 KIF1B MPZ NEFL
2 charcot-marie-tooth disease 28.7 GAN HSPB1 KIF1B MPZ NEFL
3 charcot-marie-tooth disease type 2f 11.8
4 neuropathy 10.5
5 charcot-marie-tooth disease, axonal, type 2i 9.9 KIF1B MPZ
6 charcot-marie-tooth disease, axonal, type 2j 9.9 KIF1B MPZ
7 charcot-marie-tooth disease, axonal, type 2d 9.8 KIF1B MPZ
8 charcot-marie-tooth disease, demyelinating, type 1b 9.8 KIF1B MPZ
9 charcot-marie-tooth disease, axonal, type 2b 9.8 KIF1B MPZ
10 charcot-marie-tooth disease, demyelinating, type 1f 9.8 MPZ NEFL
11 motor peripheral neuropathy 9.8 KIF1B MPZ
12 charcot-marie-tooth disease, demyelinating, type 1a 9.8 KIF1B MPZ
13 giant axonal neuropathy 9.8 GAN NEFL
14 neuropathy, hereditary, with liability to pressure palsies 9.8 KIF1B MPZ
15 hereditary motor and sensory neuropathy, type iic 9.7 KIF1B MPZ
16 charcot-marie-tooth disease and deafness 9.7 KIF1B MPZ
17 charcot-marie-tooth disease, axonal, type 2l 9.6 HSPB1 KIF1B MPZ
18 charcot-marie-tooth disease, demyelinating, type 1c 9.6 KIF1B MPZ NEFL
19 charcot-marie-tooth disease, demyelinating, type 1d 9.6 KCNH6 KIF1B MPZ
20 hypertrophic neuropathy of dejerine-sottas 9.5 KIF1B MPZ
21 peripheral nervous system disease 9.2 GAN KIF1B MPZ NEFL
22 charcot-marie-tooth disease, axonal, type 2e 8.9 GAN KCNH6 KIF1B MPZ NEFL

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:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced tendon reflexes 60 33 hallmark (90%) Very frequent (99-80%) HP:0001315
2 talipes equinovarus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001762
3 impaired pain sensation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007328
4 lower limb muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0007340
5 peripheral axonal neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003477
6 steppage gait 60 33 hallmark (90%) Very frequent (99-80%) HP:0003376
7 distal lower limb amyotrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008944
8 limb fasciculations 60 33 hallmark (90%) Very frequent (99-80%) HP:0007289
9 upper limb amyotrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009129
10 impaired temperature sensation 60 33 hallmark (90%) Very frequent (99-80%) HP:0010829
11 emg: chronic denervation signs 60 33 hallmark (90%) Very frequent (99-80%) HP:0003444
12 pes cavus 33 HP:0001761
13 decreased motor nerve conduction velocity 33 HP:0003431
14 areflexia 33 HP:0001284
15 fasciculations 33 HP:0002380
16 split hand 33 HP:0001171
17 hyporeflexia 33 HP:0001265
18 foot dorsiflexor weakness 33 HP:0009027
19 distal muscle weakness 33 HP:0002460
20 distal amyotrophy 33 HP:0003693
21 distal sensory impairment 33 HP:0002936
22 emg: neuropathic changes 60 Very frequent (99-80%)
23 chronic axonal neuropathy 33 HP:0007267
24 muscle spasm 33 HP:0003394
25 ulnar claw 33 HP:0001178

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes cavus

Skeletal Hands:
claw hand deformities (in severe cases)

Neurologic Peripheral Nervous System:
muscle cramps
areflexia
fasciculations
hyporeflexia
distal sensory impairment
more

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:

# Title Authors Year
1
Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan. ( 29381233 )
2018
2
Charcot Marie Tooth disease 2F and a novel mutation from India. ( 29547183 )
2018

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

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

76
# 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

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

6 (show top 50) (show all 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 HSPB1 NM_001540.4(HSPB1): c.9G> A (p.Glu3=) single nucleotide variant Benign/Likely benign rs77586767 GRCh37 Chromosome 7, 75932038: 75932038
2 HSPB1 NM_001540.4(HSPB1): c.9G> A (p.Glu3=) single nucleotide variant Benign/Likely benign rs77586767 GRCh38 Chromosome 7, 76302721: 76302721
3 HSPB1 NM_001540.4(HSPB1): c.610G> A (p.Ala204Thr) single nucleotide variant Uncertain significance rs367857772 GRCh37 Chromosome 7, 75933482: 75933482
4 HSPB1 NM_001540.4(HSPB1): c.610G> A (p.Ala204Thr) single nucleotide variant Uncertain significance rs367857772 GRCh38 Chromosome 7, 76304165: 76304165
5 HSPB1 NM_001540.4(HSPB1): c.407G> T (p.Arg136Leu) single nucleotide variant Pathogenic/Likely pathogenic rs863225022 GRCh38 Chromosome 7, 76303844: 76303844
6 HSPB1 NM_001540.4(HSPB1): c.407G> T (p.Arg136Leu) single nucleotide variant Pathogenic/Likely pathogenic rs863225022 GRCh37 Chromosome 7, 75933161: 75933161
7 HSPB1 NM_001540.4(HSPB1): c.523C> T (p.Gln175Ter) single nucleotide variant Pathogenic/Likely pathogenic rs863225023 GRCh37 Chromosome 7, 75933395: 75933395
8 HSPB1 NM_001540.4(HSPB1): c.523C> T (p.Gln175Ter) single nucleotide variant Pathogenic/Likely pathogenic rs863225023 GRCh38 Chromosome 7, 76304078: 76304078
9 HSPB1 NM_001540.4(HSPB1): c.99C> T (p.Phe33=) single nucleotide variant Likely benign rs762032846 GRCh38 Chromosome 7, 76302811: 76302811
10 HSPB1 NM_001540.4(HSPB1): c.99C> T (p.Phe33=) single nucleotide variant Likely benign rs762032846 GRCh37 Chromosome 7, 75932128: 75932128
11 HSPB1 NM_001540.4(HSPB1): c.250G> C (p.Gly84Arg) single nucleotide variant Pathogenic rs770272088 GRCh37 Chromosome 7, 75932279: 75932279
12 HSPB1 NM_001540.4(HSPB1): c.250G> C (p.Gly84Arg) single nucleotide variant Pathogenic rs770272088 GRCh38 Chromosome 7, 76302962: 76302962
13 HSPB1 NM_001540.4(HSPB1): c.404C> T (p.Ser135Phe) single nucleotide variant Pathogenic rs28939680 GRCh37 Chromosome 7, 75933158: 75933158
14 HSPB1 NM_001540.4(HSPB1): c.404C> T (p.Ser135Phe) single nucleotide variant Pathogenic rs28939680 GRCh38 Chromosome 7, 76303841: 76303841
15 HSPB1 NM_001540.4(HSPB1): c.379C> T (p.Arg127Trp) single nucleotide variant Pathogenic rs29001571 GRCh37 Chromosome 7, 75933133: 75933133
16 HSPB1 NM_001540.4(HSPB1): c.379C> T (p.Arg127Trp) single nucleotide variant Pathogenic rs29001571 GRCh38 Chromosome 7, 76303816: 76303816
17 HSPB1 NM_001540.4(HSPB1): c.406C> T (p.Arg136Trp) single nucleotide variant Pathogenic rs28939681 GRCh37 Chromosome 7, 75933160: 75933160
18 HSPB1 NM_001540.4(HSPB1): c.406C> T (p.Arg136Trp) single nucleotide variant Pathogenic rs28939681 GRCh38 Chromosome 7, 76303843: 76303843
19 HSPB1 NM_001540.4(HSPB1): c.418C> G (p.Arg140Gly) single nucleotide variant Pathogenic rs121909112 GRCh37 Chromosome 7, 75933172: 75933172
20 HSPB1 NM_001540.4(HSPB1): c.418C> G (p.Arg140Gly) single nucleotide variant Pathogenic rs121909112 GRCh38 Chromosome 7, 76303855: 76303855
21 HSPB1 NM_001540.4(HSPB1): c.178C> T (p.Pro60Ser) single nucleotide variant Benign/Likely benign rs61751217 GRCh37 Chromosome 7, 75932207: 75932207
22 HSPB1 NM_001540.4(HSPB1): c.178C> T (p.Pro60Ser) single nucleotide variant Benign/Likely benign rs61751217 GRCh38 Chromosome 7, 76302890: 76302890
23 HSPB1 NM_001540.4(HSPB1): c.567C> T (p.Ala189=) single nucleotide variant Benign rs528301561 GRCh38 Chromosome 7, 76304122: 76304122
24 HSPB1 NM_001540.4(HSPB1): c.567C> T (p.Ala189=) single nucleotide variant Benign rs528301561 GRCh37 Chromosome 7, 75933439: 75933439
25 HSPB1 NM_001540.3(HSPB1): c.80G> C (p.Arg27Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs367662394 GRCh38 Chromosome 7, 76302792: 76302792
26 HSPB1 NM_001540.3(HSPB1): c.80G> C (p.Arg27Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs367662394 GRCh37 Chromosome 7, 75932109: 75932109
27 HSPB1 NM_001540.4(HSPB1): c.24C> T (p.Phe8=) single nucleotide variant Conflicting interpretations of pathogenicity rs201769668 GRCh37 Chromosome 7, 75932053: 75932053
28 HSPB1 NM_001540.4(HSPB1): c.24C> T (p.Phe8=) single nucleotide variant Conflicting interpretations of pathogenicity rs201769668 GRCh38 Chromosome 7, 76302736: 76302736
29 HSPB1 NM_001540.4(HSPB1): c.383A> G (p.Gln128Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs558882005 GRCh37 Chromosome 7, 75933137: 75933137
30 HSPB1 NM_001540.4(HSPB1): c.383A> G (p.Gln128Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs558882005 GRCh38 Chromosome 7, 76303820: 76303820
31 HSPB1 NM_001540.4(HSPB1): c.36G> T (p.Arg12=) single nucleotide variant Benign/Likely benign rs145369859 GRCh37 Chromosome 7, 75932065: 75932065
32 HSPB1 NM_001540.4(HSPB1): c.36G> T (p.Arg12=) single nucleotide variant Benign/Likely benign rs145369859 GRCh38 Chromosome 7, 76302748: 76302748
33 HSPB1 NM_001540.4(HSPB1): c.573T> C (p.Leu191=) single nucleotide variant Benign/Likely benign rs34771861 GRCh37 Chromosome 7, 75933445: 75933445
34 HSPB1 NM_001540.4(HSPB1): c.573T> C (p.Leu191=) single nucleotide variant Benign/Likely benign rs34771861 GRCh38 Chromosome 7, 76304128: 76304128
35 HSPB1 NM_001540.4(HSPB1): c.318G> C (p.Pro106=) single nucleotide variant Likely benign rs750349055 GRCh38 Chromosome 7, 76303030: 76303030
36 HSPB1 NM_001540.4(HSPB1): c.318G> C (p.Pro106=) single nucleotide variant Likely benign rs750349055 GRCh37 Chromosome 7, 75932347: 75932347
37 HSPB1 NM_001540.4(HSPB1): c.16G> A (p.Val6Ile) single nucleotide variant Uncertain significance rs1049324 GRCh37 Chromosome 7, 75932045: 75932045
38 HSPB1 NM_001540.4(HSPB1): c.16G> A (p.Val6Ile) single nucleotide variant Uncertain significance rs1049324 GRCh38 Chromosome 7, 76302728: 76302728
39 HSPB1 NM_001540.4(HSPB1): c.266G> A (p.Arg89Gln) single nucleotide variant Uncertain significance rs1060503022 GRCh37 Chromosome 7, 75932295: 75932295
40 HSPB1 NM_001540.4(HSPB1): c.266G> A (p.Arg89Gln) single nucleotide variant Uncertain significance rs1060503022 GRCh38 Chromosome 7, 76302978: 76302978
41 HSPB1 NM_001540.4(HSPB1): c.202G> C (p.Val68Leu) single nucleotide variant Uncertain significance rs757158514 GRCh38 Chromosome 7, 76302914: 76302914
42 HSPB1 NM_001540.4(HSPB1): c.202G> C (p.Val68Leu) single nucleotide variant Uncertain significance rs757158514 GRCh37 Chromosome 7, 75932231: 75932231
43 HSPB1 NM_001540.4(HSPB1): c.522_523delGCinsCT (p.Gln175Ter) indel Likely pathogenic rs1060503021 GRCh38 Chromosome 7, 76304077: 76304078
44 HSPB1 NM_001540.4(HSPB1): c.522_523delGCinsCT (p.Gln175Ter) indel Likely pathogenic rs1060503021 GRCh37 Chromosome 7, 75933394: 75933395
45 HSPB1 NM_001540.4(HSPB1): c.277G> A (p.Asp93Asn) single nucleotide variant Uncertain significance rs777201941 GRCh37 Chromosome 7, 75932306: 75932306
46 HSPB1 NM_001540.4(HSPB1): c.277G> A (p.Asp93Asn) single nucleotide variant Uncertain significance rs777201941 GRCh38 Chromosome 7, 76302989: 76302989
47 HSPB1 NM_001540.4(HSPB1): c.305A> T (p.Asn102Ile) single nucleotide variant Uncertain significance rs765142574 GRCh38 Chromosome 7, 76303017: 76303017
48 HSPB1 NM_001540.4(HSPB1): c.305A> T (p.Asn102Ile) single nucleotide variant Uncertain significance rs765142574 GRCh37 Chromosome 7, 75932334: 75932334
49 HSPB1 NM_001540.4(HSPB1): c.29T> A (p.Leu10His) single nucleotide variant Uncertain significance rs772216758 GRCh38 Chromosome 7, 76302741: 76302741
50 HSPB1 NM_001540.4(HSPB1): c.29T> A (p.Leu10His) single nucleotide variant Uncertain significance rs772216758 GRCh37 Chromosome 7, 75932058: 75932058

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 myelin sheath GO:0043209 8.96 MPZ NEFL
2 axon cytoplasm GO:1904115 8.8 HSPB1 KIF1B NEFL

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 KIF1B NEFL

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

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