MCID: CHR315
MIFTS: 16

Charcot-Marie-Tooth Neuropathy Type 4j

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Neuropathy Type 4j

MalaCards integrated aliases for Charcot-Marie-Tooth Neuropathy Type 4j:

Name: Charcot-Marie-Tooth Neuropathy Type 4j 24
Charcot-Marie-Tooth Disease, Type 4j 72
Charcot-Marie-Tooth Disease Type 4j 24
Cmt4j 24

Classifications:



External Ids:

UMLS 72 C1970011

Summaries for Charcot-Marie-Tooth Neuropathy Type 4j

MalaCards based summary : Charcot-Marie-Tooth Neuropathy Type 4j, also known as charcot-marie-tooth disease, type 4j, is related to neuropathy, congenital hypomyelinating, 1, autosomal recessive and charcot-marie-tooth disease, type 4j. An important gene associated with Charcot-Marie-Tooth Neuropathy Type 4j is FIG4 (FIG4 Phosphoinositide 5-Phosphatase). Affiliated tissues include eye.

GeneReviews: NBK169431

Related Diseases for Charcot-Marie-Tooth Neuropathy Type 4j

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Neuropathy Type 4j:



Diseases related to Charcot-Marie-Tooth Neuropathy Type 4j

Symptoms & Phenotypes for Charcot-Marie-Tooth Neuropathy Type 4j

Drugs & Therapeutics for Charcot-Marie-Tooth Neuropathy Type 4j

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J) Recruiting NCT03810508

Search NIH Clinical Center for Charcot-Marie-Tooth Neuropathy Type 4j

Genetic Tests for Charcot-Marie-Tooth Neuropathy Type 4j

Anatomical Context for Charcot-Marie-Tooth Neuropathy Type 4j

MalaCards organs/tissues related to Charcot-Marie-Tooth Neuropathy Type 4j:

41
Eye

Publications for Charcot-Marie-Tooth Neuropathy Type 4j

Articles related to Charcot-Marie-Tooth Neuropathy Type 4j:

(show all 37)
# Title Authors PMID Year
1
Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. 38 4
23489662 2013
2
Fig4 deficiency: a newly emerged lysosomal storage disorder? 38 4
23165282 2013
3
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4. 38 4
21705420 2011
4
Distinct pathogenic processes between Fig4-deficient motor and sensory neurons. 38 4
21410794 2011
5
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. 38 4
19118816 2009
6
Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. 38 4
18556664 2008
7
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 38 4
17572665 2007
8
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 4
23623387 2013
9
Crystal structure of the yeast Sac1: implications for its phosphoinositide phosphatase function. 4
20389282 2010
10
Diagnosis and new treatments in genetic neuropathies. 4
19917815 2009
11
Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. 4
19539237 2009
12
Phosphatidylinositol 3,5-bisphosphate and Fab1p/PIKfyve underPPIn endo-lysosome function. 4
19272020 2009
13
Long-term results of reconstruction for treatment of a flexible cavovarus foot in Charcot-Marie-Tooth disease. 4
19047708 2008
14
VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse. 4
19037259 2008
15
Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis. 4
11003782 2000
16
The pathogenesis and surgical management of foot deformity in Charcot-Marie-Tooth disease. 4
11232233 2000
17
Profiles of neuromuscular diseases. Hereditary motor and sensory neuropathy, types I and II. 4
7576421 1995
18
Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J. 38
31313076 2019
19
Loss-of-function mutation in Hippo suppressed enlargement of lysosomes and neurodegeneration caused by dFIG4 knockdown. 38
29742619 2018
20
Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination. 38
29518270 2018
21
A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade. 38
28859335 2017
22
FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study. 38
28051077 2017
23
Knockdown of the Drosophila FIG4 induces deficient locomotive behavior, shortening of motor neuron, axonal targeting aberration, reduction of life span and defects in eye development. 38
26708557 2016
24
FIG4 regulates lysosome membrane homeostasis independent of phosphatase function. 38
26662798 2016
25
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy. 38
25187576 2015
26
[Review of the recent literature on hereditary neuropathies]. 38
25459128 2014
27
Sac1-Vps74 structure reveals a mechanism to terminate phosphoinositide signaling in the Golgi apparatus. 38
25113029 2014
28
Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. 38
24878229 2014
29
Charcot-Marie-Tooth Neuropathy Type 4J 38
24228289 2013
30
Trauma does not accelerate neuronal degeneration in Fig4 insufficient mice. 38
21872275 2012
31
Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4. 38
22131434 2011
32
Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies. 38
22028665 2011
33
Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. 38
21655088 2011
34
ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder. 38
20630877 2010
35
[Hereditary neuropathy: recent advance]. 38
19198150 2008
36
CMT4J: Charcot-Marie-Tooth disorder caused by mutations in FIG4. 38
18261132 2008
37
Charcot-Marie-Tooth Neuropathy Type 4 38
20301641 1998

Variations for Charcot-Marie-Tooth Neuropathy Type 4j

Expression for Charcot-Marie-Tooth Neuropathy Type 4j

Search GEO for disease gene expression data for Charcot-Marie-Tooth Neuropathy Type 4j.

Pathways for Charcot-Marie-Tooth Neuropathy Type 4j

GO Terms for Charcot-Marie-Tooth Neuropathy Type 4j

Sources for Charcot-Marie-Tooth Neuropathy Type 4j

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