MCID: CHR420
MIFTS: 38

Charcot-Marie-Tooth Disease, Type 4j

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Type 4j

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

Name: Charcot-Marie-Tooth Disease, Type 4j 57 53 29 13 6 40 73
Cmt4j 57 12 53 59 75
Charcot-Marie-Tooth Disease Type 4j 12 53 59 15
Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j 57 53
Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j 12
Charcot-Marie-Tooth Disease 4j 75

Characteristics:

Orphanet epidemiological data:

59
charcot-marie-tooth disease type 4j
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset usually in early childhood
some patients may become wheelchair-bound
adult onset may occur
motor impairment more significant than sensory impairment
trauma may accelerate symptoms


HPO:

32
charcot-marie-tooth disease, type 4j:
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 611228
Disease Ontology 12 DOID:0110184
ICD10 33 G60.0
Orphanet 59 ORPHA139515
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 74 C1970011
MedGen 42 C1970011
MeSH 44 D002607
UMLS 73 C1970011

Summaries for Charcot-Marie-Tooth Disease, Type 4j

UniProtKB/Swiss-Prot : 75 Charcot-Marie-Tooth disease 4J: A recessive demyelinating 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). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.

MalaCards based summary : Charcot-Marie-Tooth Disease, Type 4j, also known as cmt4j, is related to tooth disease and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Type 4j is FIG4 (FIG4 Phosphoinositide 5-Phosphatase), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Related phenotypes are decreased nerve conduction velocity and hyporeflexia

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 4 that has material basis in compound heterozygous mutations in the FIG4 gene on chromosome 6q21.

OMIM : 57 Charcot-Marie-Tooth disease type 4J is an autosomal recessive progressive neurologic disorder with a highly variable phenotype and onset ranging from early childhood to adulthood. Most patients have both proximal and distal asymmetric muscle weakness of the upper and lower limbs. There is significant motor dysfunction, followed by variably progressive sensory loss, which may be mild. Nerve conduction studies and nerve biopsies indicate demyelination as well as axonal loss (summary by Nicholson et al., 2011). For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (214400). (611228)

Related Diseases for Charcot-Marie-Tooth Disease, Type 4j

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 2g

Diseases related to Charcot-Marie-Tooth Disease, Type 4j via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 tooth disease 29.2 FIG4 MTMR2 SBF2
2 charcot-marie-tooth disease 28.8 FIG4 MTMR2 SBF2
3 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 28.4 FIG4 MTMR2 PIKFYVE SBF2 VAC14
4 charcot-marie-tooth neuropathy type 4j 11.6
5 chronic inflammatory demyelinating polyneuropathy 10.3
6 polyneuropathy 10.3
7 demyelinating polyneuropathy 10.3
8 early-onset glaucoma 9.6 MTMR2 SBF2
9 charcot-marie-tooth disease, demyelinating, type 4f 9.6 MTMR2 SBF2
10 charcot-marie-tooth disease, type 4b3 9.6 MTMR2 SBF2
11 charcot-marie-tooth disease, type 4b2 9.5 MTMR2 SBF2
12 charcot-marie-tooth disease, type 4b1 9.5 MTMR2 SBF2
13 charcot-marie-tooth disease, type 4a 9.4 MTMR2 SBF2
14 yunis-varon syndrome 9.4 FIG4 PIKFYVE VAC14
15 centronuclear myopathy 9.2 MTMR2 SBF2
16 charcot-marie-tooth disease, axonal, type 2e 9.0 MTMR2 SBF2

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



Diseases related to Charcot-Marie-Tooth Disease, Type 4j

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Type 4j

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
areflexia
frequent falls
distal sensory impairment
onion bulb formation
gait difficulties
more
Skeletal Limbs:
ankle contractures

Neurologic Central Nervous System:
delayed motor development (in some patients)

Muscle Soft Tissue:
muscle amyotrophy


Clinical features from OMIM:

611228

Human phenotypes related to Charcot-Marie-Tooth Disease, Type 4j:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 decreased nerve conduction velocity 32 HP:0000762
2 hyporeflexia 32 HP:0001265
3 motor delay 32 occasional (7.5%) HP:0001270
4 areflexia 32 HP:0001284
5 gait disturbance 32 HP:0001288
6 frequent falls 32 HP:0002359
7 distal muscle weakness 32 HP:0002460
8 distal sensory impairment 32 HP:0002936
9 onion bulb formation 32 HP:0003383
10 decreased motor nerve conduction velocity 32 HP:0003431
11 axonal loss 32 HP:0003447
12 distal arthrogryposis 32 HP:0005684
13 ankle contracture 32 HP:0006466
14 peripheral hypomyelination 32 HP:0007182

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Type 4j:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.35 FIG4 MTMR2 PIKFYVE SBF2 VAC14
2 nervous system MP:0003631 9.02 FIG4 MTMR2 PIKFYVE SBF2 VAC14

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Type 4j

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Type 4j

Genetic Tests for Charcot-Marie-Tooth Disease, Type 4j

Genetic tests related to Charcot-Marie-Tooth Disease, Type 4j:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 4j 29 FIG4

Anatomical Context for Charcot-Marie-Tooth Disease, Type 4j

Publications for Charcot-Marie-Tooth Disease, Type 4j

Articles related to Charcot-Marie-Tooth Disease, Type 4j:

# Title Authors Year
1
Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. ( 23489662 )
2013

Variations for Charcot-Marie-Tooth Disease, Type 4j

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Type 4j:

75
# Symbol AA change Variation ID SNP ID
1 FIG4 p.Ile41Thr VAR_036974 rs121908287
2 FIG4 p.Leu17Pro VAR_071957 rs587777713
3 FIG4 p.Glu302Lys VAR_071958 rs587777714

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Type 4j:

6
(show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 FIG4 NM_014845.5(FIG4): c.122T> C (p.Ile41Thr) single nucleotide variant Pathogenic rs121908287 GRCh37 Chromosome 6, 110036336: 110036336
2 FIG4 NM_014845.5(FIG4): c.122T> C (p.Ile41Thr) single nucleotide variant Pathogenic rs121908287 GRCh38 Chromosome 6, 109715133: 109715133
3 FIG4 FIG4, 1-BP DEL, 294T deletion Pathogenic
4 FIG4 NM_014845.5(FIG4): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs121908288 GRCh37 Chromosome 6, 110056402: 110056402
5 FIG4 NM_014845.5(FIG4): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs121908288 GRCh38 Chromosome 6, 109735199: 109735199
6 FIG4 FIG4, 8-BP DEL, NT1043 deletion Pathogenic
7 FIG4 FIG4, 1-BP DEL, 759G deletion Pathogenic
8 FIG4 NM_014845.5(FIG4): c.50T> C (p.Leu17Pro) single nucleotide variant Pathogenic rs587777713 GRCh38 Chromosome 6, 109691485: 109691485
9 FIG4 NM_014845.5(FIG4): c.50T> C (p.Leu17Pro) single nucleotide variant Pathogenic rs587777713 GRCh37 Chromosome 6, 110012688: 110012688
10 FIG4 NM_014845.5(FIG4): c.904G> A (p.Glu302Lys) single nucleotide variant Pathogenic rs587777714 GRCh37 Chromosome 6, 110064340: 110064340
11 FIG4 NM_014845.5(FIG4): c.904G> A (p.Glu302Lys) single nucleotide variant Pathogenic rs587777714 GRCh38 Chromosome 6, 109743137: 109743137
12 FIG4 NM_014845.5(FIG4): c.290-2A> T single nucleotide variant Pathogenic rs587777715 GRCh38 Chromosome 6, 109727107: 109727107
13 FIG4 NM_014845.5(FIG4): c.290-2A> T single nucleotide variant Pathogenic rs587777715 GRCh37 Chromosome 6, 110048310: 110048310
14 FIG4 NM_014845.5(FIG4): c.1141C> T (p.Arg381Ter) single nucleotide variant Pathogenic rs377357931 GRCh37 Chromosome 6, 110081456: 110081456
15 FIG4 NM_014845.5(FIG4): c.1141C> T (p.Arg381Ter) single nucleotide variant Pathogenic rs377357931 GRCh38 Chromosome 6, 109760253: 109760253
16 FIG4 NM_014845.5(FIG4): c.1948+3A> G single nucleotide variant Benign rs10499054 GRCh37 Chromosome 6, 110106234: 110106234
17 FIG4 NM_014845.5(FIG4): c.1948+3A> G single nucleotide variant Benign rs10499054 GRCh38 Chromosome 6, 109785031: 109785031

Expression for Charcot-Marie-Tooth Disease, Type 4j

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

Pathways for Charcot-Marie-Tooth Disease, Type 4j

Pathways related to Charcot-Marie-Tooth Disease, Type 4j according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.29 AK9 FIG4 MTMR2 PIKFYVE VAC14
2
Show member pathways
11.99 FIG4 MTMR2 PIKFYVE VAC14
3
Show member pathways
11.93 FIG4 MTMR2 PIKFYVE
4
Show member pathways
11.19 FIG4 MTMR2 PIKFYVE VAC14

GO Terms for Charcot-Marie-Tooth Disease, Type 4j

Cellular components related to Charcot-Marie-Tooth Disease, Type 4j according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.58 FIG4 MTMR2 VAC14
2 endosome GO:0005768 9.56 FIG4 MTMR2 PIKFYVE VAC14
3 Golgi membrane GO:0000139 9.54 FIG4 PIKFYVE VAC14
4 endosome membrane GO:0010008 9.5 FIG4 PIKFYVE VAC14
5 late endosome membrane GO:0031902 9.33 FIG4 PIKFYVE VAC14
6 vacuolar membrane GO:0005774 9.13 MTMR2 SBF2 VAC14
7 early endosome membrane GO:0031901 8.92 FIG4 MTMR2 PIKFYVE VAC14

Biological processes related to Charcot-Marie-Tooth Disease, Type 4j according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dephosphorylation GO:0016311 9.43 FIG4 MTMR2
2 neuron development GO:0048666 9.4 FIG4 MTMR2
3 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.37 FIG4 PIKFYVE
4 phosphatidylinositol metabolic process GO:0046488 9.33 FIG4 MTMR2 PIKFYVE
5 protein tetramerization GO:0051262 9.32 MTMR2 SBF2
6 negative regulation of myelination GO:0031642 9.26 FIG4 MTMR2
7 phosphatidylinositol biosynthetic process GO:0006661 9.26 FIG4 MTMR2 PIKFYVE VAC14
8 myelin assembly GO:0032288 8.8 FIG4 MTMR2 PIKFYVE

Molecular functions related to Charcot-Marie-Tooth Disease, Type 4j according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-3-phosphatase activity GO:0004438 8.96 FIG4 MTMR2
2 phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity GO:0043813 8.62 FIG4 PIKFYVE

Sources for Charcot-Marie-Tooth Disease, Type 4j

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....