MCID: GDP003
MIFTS: 11

Gdap1-Related Hereditary Motor and Sensory Neuropathy

Categories: Neuronal diseases

Aliases & Classifications for Gdap1-Related Hereditary Motor and Sensory Neuropathy

MalaCards integrated aliases for Gdap1-Related Hereditary Motor and Sensory Neuropathy:

Name: Gdap1-Related Hereditary Motor and Sensory Neuropathy 24
Gdap1-Related Charcot-Marie-Tooth Neuropathy 24
Gdap1-Hmsn 24

Characteristics:

GeneReviews:

24
Penetrance Reduced penetrance has been reported in ad gdap1-hmsn. several heterozygotes have been reported to be mildly affected or asymptomatic at an advanced age [zimoĊ„ et al 2011].

Classifications:



Summaries for Gdap1-Related Hereditary Motor and Sensory Neuropathy

MalaCards based summary : Gdap1-Related Hereditary Motor and Sensory Neuropathy, also known as gdap1-related charcot-marie-tooth neuropathy, is related to charcot-marie-tooth disease, type 4a and charcot-marie-tooth disease, recessive intermediate a. An important gene associated with Gdap1-Related Hereditary Motor and Sensory Neuropathy is GDAP1 (Ganglioside Induced Differentiation Associated Protein 1).

GeneReviews: NBK1539

Related Diseases for Gdap1-Related Hereditary Motor and Sensory Neuropathy

Diseases related to Gdap1-Related Hereditary Motor and Sensory Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, type 4a 10.3
2 charcot-marie-tooth disease, recessive intermediate a 10.3
3 charcot-marie-tooth disease 10.3
4 tooth disease 10.3
5 sensory peripheral neuropathy 10.3
6 peripheral nervous system disease 10.3
7 neuropathy 10.3

Graphical network of the top 20 diseases related to Gdap1-Related Hereditary Motor and Sensory Neuropathy:



Diseases related to Gdap1-Related Hereditary Motor and Sensory Neuropathy

Symptoms & Phenotypes for Gdap1-Related Hereditary Motor and Sensory Neuropathy

Drugs & Therapeutics for Gdap1-Related Hereditary Motor and Sensory Neuropathy

Search Clinical Trials , NIH Clinical Center for Gdap1-Related Hereditary Motor and Sensory Neuropathy

Genetic Tests for Gdap1-Related Hereditary Motor and Sensory Neuropathy

Anatomical Context for Gdap1-Related Hereditary Motor and Sensory Neuropathy

Publications for Gdap1-Related Hereditary Motor and Sensory Neuropathy

Articles related to Gdap1-Related Hereditary Motor and Sensory Neuropathy:

(show top 50) (show all 55)
# Title Authors PMID Year
1
The efficacy of functional surgery associated with early intensive rehabilitation therapy in Charcot-Marie-Tooth Type 1A disease. 4
28264542 2017
2
Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants. 4
28244113 2017
3
Gait in children and adolescents with Charcot-Marie-Tooth disease: a systematic review. 4
27513454 2016
4
Rehabilitation Management of the Charcot-Marie-Tooth Syndrome: A Systematic Review of the Literature. 4
27124017 2016
5
Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach. 4
26855581 2016
6
Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients. 4
25850958 2016
7
Minimally Invasive Early Operative Treatment of Progressive Foot and Ankle Deformity Associated With Charcot-Marie-Tooth Disease. 4
25131389 2015
8
Mitochondrial dynamics and inherited peripheral nerve diseases. 4
25847151 2015
9
Therapeutic options in Charcot-Marie-Tooth diseases. 4
25703094 2015
10
Surgical treatment of cavus foot in Charcot-Marie-tooth disease: a review of twenty-four cases: AAOS exhibit selection. 4
25788311 2015
11
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach. 4
25231362 2015
12
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 4
25429913 2014
13
Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease. 4
25403865 2014
14
Charcot-Marie-Tooth disease, psychiatric indicators and quality of life: a systematic review. 4
24654889 2014
15
Lower urinary tract functions in a series of Charcot-Marie-Tooth neuropathy patients. 4
23937377 2014
16
Sleep disorders in Charcot-Marie-Tooth disease type 1. 4
23704315 2014
17
Hip dysplasia is more severe in Charcot-Marie-Tooth disease than in developmental dysplasia of the hip. 4
23943527 2014
18
A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation. 4
25337607 2014
19
Neuropathic pain in hereditary peripheral neuropathy. 4
24278891 2013
20
Exploring the experience of fatigue in people with Charcot-Marie-Tooth disease. 4
23182641 2012
21
A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations. 4
22546700 2012
22
A pilot study of a crossover trial with randomized use of ankle-foot orthoses for people with Charcot-Marie-tooth disease. 4
22089961 2012
23
Pain assessment in Charcot-Marie-Tooth (CMT) disease. 4
22475878 2012
24
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes. 4
21753178 2011
25
Assessment of appropriate ankle-foot orthoses models for patients with Charcot-Marie-Tooth disease. 4
21681059 2011
26
Evidence-based guideline: treatment of painful diabetic neuropathy--report of the American Association of Neuromuscular and Electrodiagnostic Medicine, the American Academy of Neurology, and the American Academy of Physical Medicine & Rehabilitation. 4
21484835 2011
27
Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT. 4
21519004 2011
28
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype. 4
20232219 2010
29
Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A. 4
19388151 2009
30
Pharmacotherapy of chronic pain: a synthesis of recommendations from systematic reviews. 4
19410099 2009
31
Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation). 4
19381883 2009
32
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy. 4
18812441 2008
33
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome. 4
18504680 2008
34
A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease. 4
18231710 2008
35
GDAP1 mutations in Czech families with early-onset CMT. 4
17433678 2007
36
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families. 4
17347251 2007
37
Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth disease. 4
17294338 2007
38
Modafinil reduces fatigue in Charcot-Marie-Tooth disease type 1A: a case series. 4
17060310 2006
39
Therapeutic strategies for the inherited neuropathies. 4
16775380 2006
40
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. 4
16172208 2005
41
GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. 4
15772096 2005
42
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. 4
15805163 2005
43
Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene. 4
15019704 2004
44
Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes. 4
14595091 2004
45
Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. 4
14561495 2003
46
Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. 4
12821518 2003
47
Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations. 4
12843336 2003
48
Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. 4
12868504 2003
49
Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. 4
12707075 2003
50
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. 4
12566285 2003

Variations for Gdap1-Related Hereditary Motor and Sensory Neuropathy

Expression for Gdap1-Related Hereditary Motor and Sensory Neuropathy

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Pathways for Gdap1-Related Hereditary Motor and Sensory Neuropathy

GO Terms for Gdap1-Related Hereditary Motor and Sensory Neuropathy

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