CMT4J
MCID: CHR420
MIFTS: 49

Charcot-Marie-Tooth Disease, Type 4j (CMT4J)

Categories: Ear diseases, Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare 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 20 29 13 6 39 70
Cmt4j 57 12 20 58 72
Charcot-Marie-Tooth Disease Type 4j 12 20 58 15
Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j 57 20
Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j 12
Charcot-Marie-Tooth Disease 4j 72

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease type 4j
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
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:

31
charcot-marie-tooth disease, type 4j:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110184
OMIM® 57 611228
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 71 C1970011
Orphanet 58 ORPHA139515
MedGen 41 C1970011
UMLS 70 C1970011

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

UniProtKB/Swiss-Prot : 72 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 polyneuropathy and 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 Glycerophospholipid biosynthesis and superpathway of inositol phosphate compounds. Affiliated tissues include eye and brain, and related phenotypes are motor delay and gait disturbance

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) (Updated 20-May-2021)

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 D
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, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2a Charcot-Marie-Tooth Disease Type 2a2b
Charcot-Marie-Tooth Disease Type 1g Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l 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
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 top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 polyneuropathy 30.1 SH3TC2 PRX MPZ LITAF GDAP1
2 tooth disease 29.2 SH3TC2 SBF2 RAB7A PRX MTMR2 MPZ
3 neuropathy 29.2 SH3TC2 SBF2 RAB7A PRX MTMR2 MPZ
4 sensory peripheral neuropathy 29.0 PRX MTMR2 MPZ LITAF GDAP1 FGD4
5 yunis-varon syndrome 29.0 VAC14 SYNJ1 SBF2 PIKFYVE MTMR2 MCOLN1
6 peripheral nervous system disease 28.2 SH3TC2 SBF2 RAB7B RAB7A PRX MTMR2
7 charcot-marie-tooth disease 28.0 VAC14 SYNJ1 SH3TC2 SBF2 RAB7B RAB7A
8 neuropathy, congenital hypomyelinating, 1, autosomal recessive 27.2 VAC14 SH3TC2 SBF2 SACM1L RAB7B RAB7A
9 parkinsonism 10.5
10 multiple sclerosis 10.3
11 polymicrogyria, bilateral temporooccipital 10.3
12 spastic quadriplegia 10.3
13 quadriplegia 10.3
14 epilepsy 10.3
15 chronic inflammatory demyelinating polyradiculoneuropathy 10.3
16 demyelinating polyneuropathy 10.3
17 axonal neuropathy 10.3
18 early-onset glaucoma 10.3 SBF2 MTMR2
19 striatonigral degeneration 10.2 VAC14 PIKFYVE FIG4
20 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 10.2 SYNJ2 INPP5B
21 mucolipidosis iv 10.2 VAC14 PIKFYVE MCOLN1
22 pupil disease 10.2 MPZ GDAP1
23 argyll robertson pupil 10.2 MPZ GDAP1
24 abnormal pupillary function 10.2 MPZ GDAP1
25 charcot-marie-tooth disease, axonal, type 2w 10.2 MPZ GDAP1
26 charcot-marie-tooth disease, x-linked recessive, 2 10.1 MPZ LITAF
27 charcot-marie-tooth disease, type 4k 10.1 SH3TC2 LITAF
28 charcot-marie-tooth disease, axonal, type 2a1 10.1 MPZ GDAP1
29 genetic motor neuron disease 10.1 SH3TC2 MPZ
30 neuropathy, hereditary sensory and autonomic, type ic 10.1 SH3TC2 LITAF
31 neuropathy, hereditary motor and sensory, russe type 10.1 SH3TC2 GDAP1
32 centronuclear myopathy 10.1 SBF2 PIKFYVE MTMR2 FIG4
33 charcot-marie-tooth disease, dominant intermediate d 10.1 SH3TC2 MPZ
34 charcot-marie-tooth disease, dominant intermediate c 10.1 MPZ GDAP1
35 charcot-marie-tooth disease, axonal, type 2t 10.1 SH3TC2 GDAP1
36 amyotrophic lateral sclerosis 11 10.1 SYNJ2 SYNJ1 INPP5B FIG4
37 charcot-marie-tooth disease, axonal, type 2p 10.1 LITAF GDAP1
38 mononeuropathy 10.0 SH3TC2 MPZ
39 corneal dystrophy, fleck 10.0 VAC14 SBF2 PIKFYVE MTMR2 FIG4
40 nerve compression syndrome 10.0 SH3TC2 MPZ
41 hereditary neuropathies 10.0 PRX MTMR2 MPZ
42 charcot-marie-tooth disease, axonal, type 2d 10.0 SH3TC2 MPZ GDAP1
43 cortical dysplasia, complex, with other brain malformations 6 10.0 LITAF GDAP1
44 charcot-marie-tooth disease, dominant intermediate a 10.0 PRX MPZ GDAP1
45 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 9.9 RAB7B RAB7A
46 hereditary sensory and autonomic neuropathy type 1 9.9 SH3TC2 RAB7A LITAF
47 developmental and epileptic encephalopathy 53 9.9 SYNJ1 SACM1L FIG4
48 parkinson disease 20, early-onset 9.9 SYNJ1 SACM1L FIG4
49 leukodystrophy, hypomyelinating, 12 9.9 RAB7B RAB7A
50 neuropathy, hereditary sensory, type id 9.9 RAB7B RAB7A

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

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

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 motor delay 31 occasional (7.5%) HP:0001270
2 gait disturbance 31 HP:0001288
3 decreased nerve conduction velocity 31 HP:0000762
4 areflexia 31 HP:0001284
5 hyporeflexia 31 HP:0001265
6 decreased motor nerve conduction velocity 31 HP:0003431
7 ankle flexion contracture 31 HP:0006466
8 distal muscle weakness 31 HP:0002460
9 frequent falls 31 HP:0002359
10 distal sensory impairment 31 HP:0002936
11 axonal loss 31 HP:0003447
12 distal arthrogryposis 31 HP:0005684
13 onion bulb formation 31 HP:0003383
14 peripheral hypomyelination 31 HP:0007182

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.53 MPZ PIKFYVE SH3TC2 SYNJ1
2 Decreased viability GR00381-A-1 9.53 FGD4 FIG4 MPZ PRX SH3TC2
3 Decreased viability GR00381-A-3 9.53 MPZ
4 Decreased viability GR00386-A-1 9.53 MPZ
5 Decreased viability GR00402-S-2 9.53 FGD4 MCOLN1 MPZ MTMR2 NAAA

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 9.77 FGD4 FIG4 GDAP1 MCOLN1 MPZ MTMR2
2 nervous system MP:0003631 9.47 FGD4 FIG4 GDAP1 LITAF MCOLN1 MPZ

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, 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 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

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

40
Eye, Brain

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

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

(show all 44)
# Title Authors PMID Year
1
Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. 57 6 61
24878229 2014
2
Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. 61 6 57
23489662 2013
3
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)Pā‚‚ phosphatase FIG4. 57 6 61
21705420 2011
4
Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. 6 57 61
21655088 2011
5
Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. 6 57 61
18556664 2008
6
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 6 57 61
17572665 2007
7
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 61 6
23623387 2013
8
ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder. 61 6
20630877 2010
9
Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients. 61
33405357 2021
10
CMT4J, parkinsonism and a new FIG4 mutation. 61
33096303 2020
11
Charcot-Marie-Tooth disease type 4J with spastic quadriplegia, epilepsy and global developmental delay: a tale of three siblings. 61
33080143 2020
12
A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease. 61
33059769 2020
13
Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy. 61
32385905 2020
14
Segmental nerve enlargement in CMT4J. 61
32239724 2020
15
FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome. 61
32268254 2020
16
Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J. 61
31313076 2019
17
Charcot-Marie-Tooth Disease Type 4J and Multiple Sclerosis. 61
31743256 2019
18
Cerebral hypomyelination associated with biallelic variants of FIG4. 61
30740813 2019
19
Protective role of the lipid phosphatase Fig4 in the adult nervous system. 61
29688489 2018
20
Loss-of-function mutation in Hippo suppressed enlargement of lysosomes and neurodegeneration caused by dFIG4 knockdown. 61
29742619 2018
21
Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination. 61
29518270 2018
22
Charcot Marie Tooth disease type 4J with complex central nervous system features. 61
29468183 2018
23
A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade. 61
28859335 2017
24
FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study. 61
28051077 2017
25
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease. 61
27292112 2016
26
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. 61
26708557 2016
27
FIG4 regulates lysosome membrane homeostasis independent of phosphatase function. 61
26662798 2016
28
Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient Cells. 61
25926456 2015
29
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy. 61
25187576 2015
30
[Review of the recent literature on hereditary neuropathies]. 61
25459128 2014
31
Sac1-Vps74 structure reveals a mechanism to terminate phosphoinositide signaling in the Golgi apparatus. 61
25113029 2014
32
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. 61
24598713 2014
33
ALS-associated protein FIG4 is localized in Pick and Lewy bodies, and also neuronal nuclear inclusions, in polyglutamine and intranuclear inclusion body diseases. 61
23888880 2014
34
Novel FIG4 mutations in Yunis-Varon syndrome. 61
24088667 2013
35
Charcot-Marie-Tooth Neuropathy Type 4J ā€“ RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
24228289 2013
36
Fig4 deficiency: a newly emerged lysosomal storage disorder? 61
23165282 2013
37
Trauma does not accelerate neuronal degeneration in Fig4 insufficient mice. 61
21872275 2012
38
Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4. 61
22131434 2011
39
Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies. 61
22028665 2011
40
Distinct pathogenic processes between Fig4-deficient motor and sensory neurons. 61
21410794 2011
41
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. 61
19118816 2009
42
[Hereditary neuropathy: recent advance]. 61
19198150 2008
43
CMT4J: Charcot-Marie-Tooth disorder caused by mutations in FIG4. 61
18261132 2008
44
Charcot-Marie-Tooth Neuropathy Type 4 ā€“ RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301641 1998

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

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

6 (show top 50) (show all 72)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FIG4 NM_014845.5(FIG4):c.904G>A (p.Glu302Lys) SNV Pathogenic 156015 rs587777714 GRCh37: 6:110064340-110064340
GRCh38: 6:109743137-109743137
2 FIG4 NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) SNV Pathogenic 1721 rs121908287 GRCh37: 6:110036336-110036336
GRCh38: 6:109715133-109715133
3 FIG4 NM_014845.5(FIG4):c.294del (p.Phe98fs) Deletion Pathogenic 1722 rs1562648373 GRCh37: 6:110048313-110048313
GRCh38: 6:109727110-109727110
4 FIG4 NM_014845.5(FIG4):c.547C>T (p.Arg183Ter) SNV Pathogenic 1723 rs121908288 GRCh37: 6:110056402-110056402
GRCh38: 6:109735199-109735199
5 FIG4 NM_014845.5(FIG4):c.1043_1050del (p.Asp348fs) Deletion Pathogenic 1724 rs1368013631 GRCh37: 6:110064881-110064888
GRCh38: 6:109743678-109743685
6 FIG4 NM_014845.5(FIG4):c.759del (p.Phe254fs) Deletion Pathogenic 254668 rs764717219 GRCh37: 6:110059638-110059638
GRCh38: 6:109738435-109738435
7 FIG4 NM_014845.5(FIG4):c.50T>C (p.Leu17Pro) SNV Pathogenic 156014 rs587777713 GRCh37: 6:110012688-110012688
GRCh38: 6:109691485-109691485
8 FIG4 NM_014845.5(FIG4):c.290-2A>T SNV Pathogenic 156016 rs587777715 GRCh37: 6:110048310-110048310
GRCh38: 6:109727107-109727107
9 FIG4 NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) SNV Pathogenic 217228 rs377357931 GRCh37: 6:110081456-110081456
GRCh38: 6:109760253-109760253
10 FIG4 NM_014845.5(FIG4):c.737G>A (p.Trp246Ter) SNV Pathogenic 420149 rs776005417 GRCh37: 6:110059618-110059618
GRCh38: 6:109738415-109738415
11 FIG4 NM_014845.5(FIG4):c.290-2A>G SNV Pathogenic 638361 rs587777715 GRCh37: 6:110048310-110048310
GRCh38: 6:109727107-109727107
12 FIG4 NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) SNV Likely pathogenic 447336 rs745790694 GRCh37: 6:110117975-110117975
GRCh38: 6:109796772-109796772
13 FIG4 NM_014845.5(FIG4):c.1584-8T>A SNV Uncertain significance 260446 rs199522051 GRCh37: 6:110087924-110087924
GRCh38: 6:109766721-109766721
14 FIG4 NM_014845.5(FIG4):c.1863C>A (p.Thr621=) SNV Uncertain significance 355042 rs201744761 GRCh37: 6:110098237-110098237
GRCh38: 6:109777034-109777034
15 FIG4 NM_014845.5(FIG4):c.2547-5T>G SNV Uncertain significance 355047 rs200267243 GRCh37: 6:110146286-110146286
GRCh38: 6:109825083-109825083
16 FIG4 NM_014845.5(FIG4):c.350C>T (p.Ala117Val) SNV Uncertain significance 355037 rs551339249 GRCh37: 6:110048372-110048372
GRCh38: 6:109727169-109727169
17 FIG4 NM_014845.5(FIG4):c.2547-11A>G SNV Uncertain significance 355046 rs745613994 GRCh37: 6:110146280-110146280
GRCh38: 6:109825077-109825077
18 FIG4 NM_014845.5(FIG4):c.1793T>A (p.Phe598Tyr) SNV Uncertain significance 355041 rs751399063 GRCh37: 6:110098167-110098167
GRCh38: 6:109776964-109776964
19 FIG4 NM_014845.5(FIG4):c.2460A>C (p.Arg820Ser) SNV Uncertain significance 355045 rs886060984 GRCh37: 6:110117968-110117968
GRCh38: 6:109796765-109796765
20 FIG4 NM_014845.5(FIG4):c.-134C>G SNV Uncertain significance 355026 rs560811735 GRCh37: 6:110012505-110012505
GRCh38: 6:109691302-109691302
21 FIG4 NM_014845.5(FIG4):c.235G>A (p.Gly79Arg) SNV Uncertain significance 355034 rs886060982 GRCh37: 6:110037717-110037717
GRCh38: 6:109716514-109716514
22 FIG4 NM_014845.5(FIG4):c.-124A>G SNV Uncertain significance 355028 rs544958043 GRCh37: 6:110012515-110012515
GRCh38: 6:109691312-109691312
23 FIG4 NM_014845.5(FIG4):c.-84A>G SNV Uncertain significance 355032 rs764845399 GRCh37: 6:110012555-110012555
GRCh38: 6:109691352-109691352
24 FIG4 NM_014845.5(FIG4):c.-112G>A SNV Uncertain significance 355031 rs757848529 GRCh37: 6:110012527-110012527
GRCh38: 6:109691324-109691324
25 FIG4 NM_014845.5(FIG4):c.2223G>T (p.Thr741=) SNV Uncertain significance 355044 rs181012139 GRCh37: 6:110112621-110112621
GRCh38: 6:109791418-109791418
26 FIG4 NM_014845.5(FIG4):c.-132A>G SNV Uncertain significance 355027 rs548471516 GRCh37: 6:110012507-110012507
GRCh38: 6:109691304-109691304
27 FIG4 NM_014845.5(FIG4):c.-138T>C SNV Uncertain significance 355025 rs550585093 GRCh37: 6:110012501-110012501
GRCh38: 6:109691298-109691298
28 FIG4 NM_014845.5(FIG4):c.243A>G (p.Lys81=) SNV Uncertain significance 355035 rs200257799 GRCh37: 6:110037725-110037725
GRCh38: 6:109716522-109716522
29 FIG4 NM_014845.5(FIG4):c.2547-4A>G SNV Uncertain significance 355048 rs886060985 GRCh37: 6:110146287-110146287
GRCh38: 6:109825084-109825084
30 FIG4 NM_014845.5(FIG4):c.2568G>T (p.Ser856=) SNV Uncertain significance 355049 rs140055056 GRCh37: 6:110146312-110146312
GRCh38: 6:109825109-109825109
31 FIG4 NM_014845.5(FIG4):c.2096G>A (p.Arg699His) SNV Uncertain significance 355043 rs750091928 GRCh37: 6:110107652-110107652
GRCh38: 6:109786449-109786449
32 FIG4 NM_014845.5(FIG4):c.2200G>A (p.Glu734Lys) SNV Uncertain significance 234661 rs372846619 GRCh37: 6:110112598-110112598
GRCh38: 6:109791395-109791395
33 FIG4 NM_014845.5(FIG4):c.1272-10C>G SNV Uncertain significance 355039 rs201293291 GRCh37: 6:110083284-110083284
GRCh38: 6:109762081-109762081
34 FIG4 NM_014845.5(FIG4):c.109C>T (p.Arg37Cys) SNV Uncertain significance 543424 rs368625871 GRCh37: 6:110036323-110036323
GRCh38: 6:109715120-109715120
35 FIG4 NM_014845.5(FIG4):c.205C>T (p.Arg69Cys) SNV Uncertain significance 587490 rs540674198 GRCh37: 6:110037687-110037687
GRCh38: 6:109716484-109716484
36 FIG4 NM_014845.6(FIG4):c.1482C>T (p.Asn494=) SNV Uncertain significance 904721 GRCh37: 6:110086263-110086263
GRCh38: 6:109765060-109765060
37 FIG4 NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu) SNV Uncertain significance 694988 rs201375273 GRCh37: 6:110146296-110146296
GRCh38: 6:109825093-109825093
38 FIG4 NC_000006.12:g.109691284C>A SNV Uncertain significance 904574 GRCh37: 6:110012487-110012487
GRCh38: 6:109691284-109691284
39 FIG4 NM_014845.5(FIG4):c.446+9G>A SNV Uncertain significance 381005 rs190287033 GRCh37: 6:110048477-110048477
GRCh38: 6:109727274-109727274
40 FIG4 NM_014845.6(FIG4):c.1889+9C>T SNV Uncertain significance 905509 GRCh37: 6:110098272-110098272
GRCh38: 6:109777069-109777069
41 FIG4 NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys) SNV Uncertain significance 254671 rs150301327 GRCh37: 6:110106223-110106223
GRCh38: 6:109785020-109785020
42 FIG4 NM_014845.5(FIG4):c.2567C>T (p.Ser856Leu) SNV Uncertain significance 216681 rs200970494 GRCh37: 6:110146311-110146311
GRCh38: 6:109825108-109825108
43 FIG4 NM_014845.6(FIG4):c.2690T>C (p.Met897Thr) SNV Uncertain significance 905581 GRCh37: 6:110146434-110146434
GRCh38: 6:109825231-109825231
44 FIG4 NM_014845.5(FIG4):c.640G>A (p.Gly214Arg) SNV Uncertain significance 543496 rs529048339 GRCh37: 6:110056495-110056495
GRCh38: 6:109735292-109735292
45 FIG4 NM_014845.6(FIG4):c.2096+3A>G SNV Uncertain significance 906020 GRCh37: 6:110107655-110107655
GRCh38: 6:109786452-109786452
46 FIG4 NM_014845.5(FIG4):c.2097-10C>G SNV Uncertain significance 260448 rs142482745 GRCh37: 6:110110787-110110787
GRCh38: 6:109789584-109789584
47 FIG4 NM_014845.6(FIG4):c.2222C>T (p.Thr741Met) SNV Uncertain significance 907037 GRCh37: 6:110112620-110112620
GRCh38: 6:109791417-109791417
48 FIG4 NM_014845.6(FIG4):c.2546+5G>C SNV Uncertain significance 907038 GRCh37: 6:110118059-110118059
GRCh38: 6:109796856-109796856
49 FIG4 NM_014845.5(FIG4):c.33G>C (p.Ser11=) SNV Uncertain significance 389842 rs527523781 GRCh37: 6:110012671-110012671
GRCh38: 6:109691468-109691468
50 FIG4 NM_014845.5(FIG4):c.1271+5A>G SNV Uncertain significance 663445 rs374583399 GRCh37: 6:110081591-110081591
GRCh38: 6:109760388-109760388

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

72
# 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

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
12.54 VAC14 SYNJ2 SYNJ1 SACM1L PIKFYVE MTMR2
2
Show member pathways
12.27 SYNJ2 SYNJ1 SACM1L PIKFYVE MTMR2 INPP5B
3 11.73 RAB7B RAB7A PIKFYVE
4 11.45 SBF2 RAB7B RAB7A
5
Show member pathways
11.43 VAC14 SYNJ2 SYNJ1 SACM1L PIKFYVE MTMR2
6 10.56 SYNJ2 SYNJ1 SACM1L INPP5B

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:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.31 VAC14 SYNJ2 SBF2 SACM1L RAB7B RAB7A
2 Golgi apparatus GO:0005794 10 SACM1L RAB7B MCOLN1 LITAF INPP5B FIG4
3 intracellular membrane-bounded organelle GO:0043231 9.95 VAC14 PIKFYVE MTMR2 MCOLN1 LITAF FIG4
4 perinuclear region of cytoplasm GO:0048471 9.91 SYNJ2 SYNJ1 SBF2 PIKFYVE MTMR2
5 cytoplasmic vesicle GO:0031410 9.91 SH3TC2 RAB7B RAB7A PIKFYVE MCOLN1 INPP5B
6 Golgi membrane GO:0000139 9.89 VAC14 SACM1L PIKFYVE LITAF FIG4
7 lysosome GO:0005764 9.85 RAB7B RAB7A NAAA MPZ MCOLN1 LITAF
8 endosome GO:0005768 9.85 VAC14 SBF2 RAB7B RAB7A PIKFYVE MTMR2
9 early endosome membrane GO:0031901 9.73 VAC14 PIKFYVE MTMR2 LITAF INPP5B FIG4
10 phagocytic vesicle membrane GO:0030670 9.72 RAB7B RAB7A PIKFYVE MCOLN1 INPP5B
11 late endosome GO:0005770 9.7 RAB7B RAB7A MCOLN1
12 endosome membrane GO:0010008 9.56 VAC14 SBF2 RAB7A PIKFYVE MTMR2 MCOLN1
13 vacuolar membrane GO:0005774 9.54 SBF2 MTMR2
14 late endosome membrane GO:0031902 9.17 VAC14 RAB7B RAB7A PIKFYVE MCOLN1 LITAF

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

# Name GO ID Score Top Affiliating Genes
1 phagosome-lysosome fusion GO:0090385 9.58 RAB7B RAB7A PIKFYVE
2 phosphatidylinositol metabolic process GO:0046488 9.56 SYNJ1 PIKFYVE MTMR2 FIG4
3 phagosome maturation GO:0090382 9.54 RAB7A PIKFYVE MCOLN1
4 myelin assembly GO:0032288 9.5 PIKFYVE MTMR2 FIG4
5 phosphatidylinositol biosynthetic process GO:0006661 9.5 VAC14 SYNJ2 SYNJ1 SACM1L PIKFYVE MTMR2
6 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.48 PIKFYVE FIG4
7 negative regulation of myelination GO:0031642 9.46 MTMR2 FIG4
8 inositol phosphate dephosphorylation GO:0046855 9.46 SYNJ2 SYNJ1 MTMR2 INPP5B
9 peripheral nervous system myelin maintenance GO:0032287 9.43 SH3TC2 PRX
10 phosphatidylinositol dephosphorylation GO:0046856 9.1 SYNJ2 SYNJ1 SACM1L MTMR2 INPP5B FIG4

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10 SYNJ2 SYNJ1 SACM1L NAAA MTMR2 INPP5B
2 inositol-1,4,5-trisphosphate 5-phosphatase activity GO:0052658 9.43 SYNJ1 INPP5B
3 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity GO:0004439 9.43 SYNJ2 SYNJ1 INPP5B
4 phosphatidylinositol phosphate 5-phosphatase activity GO:0034595 9.4 SYNJ2 SYNJ1
5 phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity GO:0043813 9.37 PIKFYVE FIG4
6 phosphatidylinositol-4-phosphate phosphatase activity GO:0043812 9.33 SYNJ1 SACM1L FIG4
7 phosphatidylinositol bisphosphate phosphatase activity GO:0034593 9.32 SACM1L FIG4
8 phosphatidylinositol-3-phosphatase activity GO:0004438 9.26 SYNJ1 SACM1L MTMR2 FIG4
9 phosphoric ester hydrolase activity GO:0042578 8.92 SYNJ2 SYNJ1 SACM1L FIG4

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

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....