MCID: SH3001
MIFTS: 15

Sh3tc2-Related Hereditary Motor and Sensory Neuropathy

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

Aliases & Classifications for Sh3tc2-Related Hereditary Motor and Sensory Neuropathy

MalaCards integrated aliases for Sh3tc2-Related Hereditary Motor and Sensory Neuropathy:

Name: Sh3tc2-Related Hereditary Motor and Sensory Neuropathy 25
Sh3tc2-Related Charcot-Marie-Tooth Neuropathy 25
Charcot-Marie-Tooth Disease Type 4c 25
Sh3tc2-Hmsn 25
Cmt4c 25

Classifications:



Summaries for Sh3tc2-Related Hereditary Motor and Sensory Neuropathy

MalaCards based summary : Sh3tc2-Related Hereditary Motor and Sensory Neuropathy, also known as sh3tc2-related charcot-marie-tooth neuropathy, is related to charcot-marie-tooth disease, type 4c and neuropathy, congenital hypomyelinating, 1, autosomal recessive. An important gene associated with Sh3tc2-Related Hereditary Motor and Sensory Neuropathy is SH3TC2 (SH3 Domain And Tetratricopeptide Repeats 2).

GeneReviews: NBK1340

Related Diseases for Sh3tc2-Related Hereditary Motor and Sensory Neuropathy

Graphical network of the top 20 diseases related to Sh3tc2-Related Hereditary Motor and Sensory Neuropathy:



Diseases related to Sh3tc2-Related Hereditary Motor and Sensory Neuropathy

Symptoms & Phenotypes for Sh3tc2-Related Hereditary Motor and Sensory Neuropathy

Drugs & Therapeutics for Sh3tc2-Related Hereditary Motor and Sensory Neuropathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others Unknown status NCT01193075

Search NIH Clinical Center for Sh3tc2-Related Hereditary Motor and Sensory Neuropathy

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Anatomical Context for Sh3tc2-Related Hereditary Motor and Sensory Neuropathy

Publications for Sh3tc2-Related Hereditary Motor and Sensory Neuropathy

Articles related to Sh3tc2-Related Hereditary Motor and Sensory Neuropathy:

(show all 39)
# Title Authors PMID Year
1
Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum. 25
30653784 2019
2
Dropped head syndrome as a manifestation of Charcot-Marie-Tooth disease type 4C. 25
30658898 2019
3
The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C. 25
31346473 2019
4
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale. 25
30476010 2018
5
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies. 25
28902413 2017
6
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
7
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
8
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4). 25
27231023 2016
9
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25
25614874 2014
10
Vestibular impairment in Charcot-Marie-Tooth disease type 4C. 25
24614092 2014
11
Charcot-Marie-Tooth disease type 4C in Japan: report of a case. 25
23281072 2013
12
Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. 25
22522479 2012
13
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease. 25
21892769 2012
14
Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C. 25
22462672 2012
15
High frequency of SH3TC2 mutations in Czech HMSN I patients. 25
21291453 2011
16
Genetic spectrum of hereditary neuropathies with onset in the first year of life. 25
21840889 2011
17
Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C. 25
20028792 2010
18
The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. 25
19272779 2009
19
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. 25
18511281 2008
20
Charcot-Marie-Tooth and pain: correlations with neurophysiological, clinical, and disability findings. 25
18612771 2008
21
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. 25
17470135 2007
22
Pain and neuromuscular disease: the results of a survey. 25
16924188 2006
23
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. 25
16924012 2006
24
Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2. 25
16806930 2006
25
A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes. 25
16326826 2005
26
Pregnancies and deliveries in patients with Charcot-Marie-Tooth disease. 25
15699375 2005
27
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. 25
14574644 2003
28
Assessment of pain and health-related quality of life in slowly progressive neuromuscular disease. 25
12173612 2002
29
The pathogenesis and surgical management of foot deformity in Charcot-Marie-Tooth disease. 25
11232233 2000
30
The tetratricopeptide repeat: a structural motif mediating protein-protein interactions. 25
10517866 1999
31
The autosomal recessive form of CMT disease linked to 5q31-q33. 25
10586271 1999
32
Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33. 25
10209165 1999
33
SH3 domains in prokaryotes. 25
10322416 1999
34
Neuropathic pain in Charcot-Marie-Tooth disease. 25
9862301 1998
35
A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease. 25
9109869 1997
36
Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. 25
8894708 1996
37
A population-based case-control study of risk factors for breech presentation. 25
8572022 1996
38
Anaesthesia for Charcot-Marie-Tooth disease: a review of 86 cases. 25
1563065 1992
39
SH3TC2-Related Hereditary Motor and Sensory Neuropathy 61
20301514 2008

Variations for Sh3tc2-Related Hereditary Motor and Sensory Neuropathy

Expression for Sh3tc2-Related Hereditary Motor and Sensory Neuropathy

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Pathways for Sh3tc2-Related Hereditary Motor and Sensory Neuropathy

GO Terms for Sh3tc2-Related Hereditary Motor and Sensory Neuropathy

Sources for Sh3tc2-Related Hereditary Motor and Sensory Neuropathy

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
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35 IUPHAR
36 KEGG
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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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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