MCID: CHR142
MIFTS: 16

Charcot-Marie-Tooth Disease Type 2f

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

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

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

Name: Charcot-Marie-Tooth Disease Type 2f 53 29 6
Charcot-Marie-Tooth Disease, Axonal, Type 2f 53 73
Charcot-Marie-Tooth Disease, Neuronal, Type 2f 53
Charcot-Marie-Tooth Neuropathy, Type 2f 53
Charcot Marie Tooth Disease Type 2f 53
Cmt 2f 53

Classifications:



External Ids:

UMLS 73 C1847823

Summaries for Charcot-Marie-Tooth Disease Type 2f

NIH Rare Diseases : 53 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.

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

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

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Recessive Intermediate a Charcot-Marie-Tooth Disease, Type 4h
Charcot-Marie-Tooth Disease, Type 4j Charcot-Marie-Tooth Disease, Recessive Intermediate B
Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2 Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease Type 2a Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Disease Type 2g
Charcot-Marie-Tooth Disease Type 2k Charcot-Marie-Tooth Disease Type 2l
Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease Type 2o
Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Dnajb2-Related Charcot-Marie-Tooth Disease Type 2
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2dd Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Diseases related to Charcot-Marie-Tooth Disease Type 2f via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2f 12.3

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

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


muscular fasciculation, muscle cramp

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

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

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

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

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

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

Publications for Charcot-Marie-Tooth Disease Type 2f

Variations for Charcot-Marie-Tooth Disease Type 2f

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

6 (show top 50) (show all 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 HSPB1 NM_001540.4(HSPB1): c.404C> T (p.Ser135Phe) single nucleotide variant Pathogenic rs28939680 GRCh37 Chromosome 7, 75933158: 75933158
2 HSPB1 NM_001540.4(HSPB1): c.404C> T (p.Ser135Phe) single nucleotide variant Pathogenic rs28939680 GRCh38 Chromosome 7, 76303841: 76303841
3 HSPB1 NM_001540.4(HSPB1): c.379C> T (p.Arg127Trp) single nucleotide variant Pathogenic rs29001571 GRCh37 Chromosome 7, 75933133: 75933133
4 HSPB1 NM_001540.4(HSPB1): c.379C> T (p.Arg127Trp) single nucleotide variant Pathogenic rs29001571 GRCh38 Chromosome 7, 76303816: 76303816
5 HSPB1 NM_001540.4(HSPB1): c.406C> T (p.Arg136Trp) single nucleotide variant Pathogenic rs28939681 GRCh37 Chromosome 7, 75933160: 75933160
6 HSPB1 NM_001540.4(HSPB1): c.406C> T (p.Arg136Trp) single nucleotide variant Pathogenic rs28939681 GRCh38 Chromosome 7, 76303843: 76303843
7 HSPB1 NM_001540.4(HSPB1): c.418C> G (p.Arg140Gly) single nucleotide variant Pathogenic rs121909112 GRCh37 Chromosome 7, 75933172: 75933172
8 HSPB1 NM_001540.4(HSPB1): c.418C> G (p.Arg140Gly) single nucleotide variant Pathogenic rs121909112 GRCh38 Chromosome 7, 76303855: 76303855
9 HSPB1 NM_001540.4(HSPB1): c.9G> A (p.Glu3=) single nucleotide variant Benign/Likely benign rs77586767 GRCh37 Chromosome 7, 75932038: 75932038
10 HSPB1 NM_001540.4(HSPB1): c.9G> A (p.Glu3=) single nucleotide variant Benign/Likely benign rs77586767 GRCh38 Chromosome 7, 76302721: 76302721
11 HSPB1 NM_001540.4(HSPB1): c.610G> A (p.Ala204Thr) single nucleotide variant Uncertain significance rs367857772 GRCh37 Chromosome 7, 75933482: 75933482
12 HSPB1 NM_001540.4(HSPB1): c.610G> A (p.Ala204Thr) single nucleotide variant Uncertain significance rs367857772 GRCh38 Chromosome 7, 76304165: 76304165
13 HSPB1 NM_001540.4(HSPB1): c.407G> T (p.Arg136Leu) single nucleotide variant Pathogenic/Likely pathogenic rs863225022 GRCh38 Chromosome 7, 76303844: 76303844
14 HSPB1 NM_001540.4(HSPB1): c.407G> T (p.Arg136Leu) single nucleotide variant Pathogenic/Likely pathogenic rs863225022 GRCh37 Chromosome 7, 75933161: 75933161
15 HSPB1 NM_001540.4(HSPB1): c.523C> T (p.Gln175Ter) single nucleotide variant Pathogenic/Likely pathogenic rs863225023 GRCh37 Chromosome 7, 75933395: 75933395
16 HSPB1 NM_001540.4(HSPB1): c.523C> T (p.Gln175Ter) single nucleotide variant Pathogenic/Likely pathogenic rs863225023 GRCh38 Chromosome 7, 76304078: 76304078
17 HSPB1 NM_001540.4(HSPB1): c.99C> T (p.Phe33=) single nucleotide variant Likely benign rs762032846 GRCh38 Chromosome 7, 76302811: 76302811
18 HSPB1 NM_001540.4(HSPB1): c.99C> T (p.Phe33=) single nucleotide variant Likely benign rs762032846 GRCh37 Chromosome 7, 75932128: 75932128
19 HSPB1 NM_001540.4(HSPB1): c.250G> C (p.Gly84Arg) single nucleotide variant Pathogenic rs770272088 GRCh37 Chromosome 7, 75932279: 75932279
20 HSPB1 NM_001540.4(HSPB1): c.250G> C (p.Gly84Arg) single nucleotide variant Pathogenic rs770272088 GRCh38 Chromosome 7, 76302962: 76302962
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_001540.4(HSPB1): c.80G> C (p.Arg27Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs367662394 GRCh38 Chromosome 7, 76302792: 76302792
26 HSPB1 NM_001540.4(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 GRCh37 Chromosome 7, 75932058: 75932058
50 HSPB1 NM_001540.4(HSPB1): c.29T> A (p.Leu10His) single nucleotide variant Uncertain significance rs772216758 GRCh38 Chromosome 7, 76302741: 76302741

Expression for Charcot-Marie-Tooth Disease Type 2f

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

Pathways for Charcot-Marie-Tooth Disease Type 2f

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

Sources for Charcot-Marie-Tooth Disease Type 2f

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....