CMT4F
MCID: CHR670
MIFTS: 43

Charcot-Marie-Tooth Disease, Demyelinating, Type 4f (CMT4F)

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

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

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

Name: Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 57 29 6 71
Charcot-Marie-Tooth Disease Type 4f 12 20 58 15
Cmt4f 57 12 58 73
Charcot-Marie-Tooth Disease, Type 4f 57 13 39
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4f 73
Charcot-Marie-Tooth Neuropathy Type 4f 73
Charcot-Marie-Tooth Disease 4f 73
Dejerine-Sottas Disease 71

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease type 4f
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
distal upper limb involvement may occur later
variable age at onset (range from early childhood to mid-adult)


HPO:

31
charcot-marie-tooth disease, demyelinating, type 4f:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110193
OMIM® 57 614895
OMIM Phenotypic Series 57 PS118220
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA99952
UMLS 71 C0011195 C3540453

Summaries for Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

UniProtKB/Swiss-Prot : 73 Charcot-Marie-Tooth disease 4F: 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. CMT4F is characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower more than the upper limbs. The age at onset is variable and can range from childhood to adult years. When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome.

MalaCards based summary : Charcot-Marie-Tooth Disease, Demyelinating, Type 4f, also known as charcot-marie-tooth disease type 4f, is related to hereditary neuropathies and hypertrophic neuropathy of dejerine-sottas, and has symptoms including ataxia, sensory An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 4f is PRX (Periaxin). Affiliated tissues include skeletal muscle, and related phenotypes are vocal cord paresis and sensory ataxia

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 4 that has material basis in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13.

OMIM® : 57 Charcot-Marie-Tooth disease type 4F is an autosomal recessive demyelinating neuropathy characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower more than the upper limbs. Nerve conduction velocities are decreased and sural nerve biopsy shows loss of myelinated fibers. The age at onset is variable and can range from childhood to adult years. When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome (DSS; 145900). For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (214400). (614895) (Updated 05-Mar-2021)

Related Diseases for Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

Diseases in the Charcot-Marie-Tooth Disease, Demyelinating, Type 1b family:

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a Charcot-Marie-Tooth Disease, Demyelinating, Type 1c
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d Charcot-Marie-Tooth Disease, Demyelinating, Type 1f
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f Charcot-Marie-Tooth Disease, Demyelinating, Type 1g

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

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 hereditary neuropathies 30.6 PRX MTMR2 MPZ
2 hypertrophic neuropathy of dejerine-sottas 30.4 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
3 neuropathy, congenital hypomyelinating, 1, autosomal recessive 28.7 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
4 peripheral nervous system disease 28.0 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
5 tooth disease 27.4 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
6 neuropathy 27.3 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
7 charcot-marie-tooth disease 26.5 SH3TC2 SBF2 PRX PLD3 MTMR2 MPZ
8 ataxia and polyneuropathy, adult-onset 10.3
9 charcot-marie-tooth disease type 5 10.3 PRX PLD3
10 spinocerebellar ataxia 46 10.3 PRX PLD3
11 early-onset glaucoma 10.2 SBF2 MTMR2
12 charcot-marie-tooth disease, axonal, type 2w 10.2 MPZ GDAP1
13 genetic motor neuron disease 10.1 SH3TC2 MPZ
14 charcot-marie-tooth disease, axonal, type 2a1 10.1 MPZ GDAP1
15 charcot-marie-tooth disease, axonal, type 2l 10.1 MPZ GDAP1
16 charcot-marie-tooth disease, dominant intermediate a 10.1 PRX MPZ GDAP1
17 charcot-marie-tooth disease, dominant intermediate c 10.1 MPZ GDAP1
18 charcot-marie-tooth disease, dominant intermediate d 10.1 SH3TC2 MPZ
19 corneal dystrophy, fleck 10.0 SBF2 MTMR2 FIG4
20 mononeuropathy 10.0 SH3TC2 MPZ
21 charcot-marie-tooth disease, axonal, type 2t 10.0 SH3TC2 GDAP1
22 hereditary motor and sensory neuropathy, type iic 10.0 SH3TC2 MPZ GDAP1
23 charcot-marie-tooth disease, axonal, type 2d 10.0 SH3TC2 MPZ GDAP1
24 pupil disease 10.0 MPZ GDAP1 EGR2
25 argyll robertson pupil 10.0 MPZ GDAP1 EGR2
26 abnormal pupillary function 10.0 MPZ GDAP1 EGR2
27 centronuclear myopathy 10.0 SBF2 MTMR2 FIG4
28 neuropathy, hereditary motor and sensory, russe type 9.9 SH3TC2 GDAP1 EGR2
29 charcot-marie-tooth disease, axonal, type 2b2 9.9 MPZ GDAP1 EMP3
30 charcot-marie-tooth disease, type 4k 9.9 SH3TC2 LITAF
31 neuropathy, hereditary sensory and autonomic, type ic 9.9 SH3TC2 LITAF
32 yunis-varon syndrome 9.9 SBF2 MTMR2 GDAP1 FIG4
33 charcot-marie-tooth disease, axonal, type 2i 9.9 SH3TC2 PRX MPZ GDAP1
34 slowed nerve conduction velocity, autosomal dominant 9.9 MPZ ARHGEF10
35 charcot-marie-tooth disease, axonal, type 2f 9.9 MPZ LITAF GDAP1
36 myopathy, centronuclear, x-linked 9.9 SBF2 MTMR2
37 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.9 MPZ EGR2
38 strabismus 9.9
39 scoliosis 9.9
40 myopia 9.9
41 progressive muscular atrophy 9.9
42 muscular atrophy 9.9
43 mechanical strabismus 9.9
44 infantile scoliosis 9.9
45 cortical dysplasia, complex, with other brain malformations 6 9.9 LITAF GDAP1
46 charcot-marie-tooth disease, x-linked recessive, 2 9.8 MPZ LITAF EGR2
47 charcot-marie-tooth disease, dominant intermediate e 9.7 SH3TC2 SBF2 MTMR2 MPZ GDAP1
48 charcot-marie-tooth disease, type 4b3 9.7 SH3TC2 SBF2 MTMR2 MPZ GDAP1
49 neuropathy, hereditary sensory and autonomic, type iia 9.6 SH3TC2 LITAF GDAP1 FGD4
50 charcot-marie-tooth disease, axonal, type 2p 9.6 LITAF GDAP1 ARHGEF10

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



Diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

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

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

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 vocal cord paresis 31 occasional (7.5%) HP:0001604
2 sensory ataxia 31 occasional (7.5%) HP:0010871
3 scoliosis 31 HP:0002650
4 skeletal muscle atrophy 31 HP:0003202
5 motor delay 31 HP:0001270
6 areflexia 31 HP:0001284
7 pes cavus 31 HP:0001761
8 decreased motor nerve conduction velocity 31 HP:0003431
9 limb muscle weakness 31 HP:0003690
10 difficulty walking 31 HP:0002355
11 distal sensory impairment 31 HP:0002936
12 peripheral demyelination 31 HP:0011096
13 decreased number of large peripheral myelinated nerve fibers 31 HP:0003387
14 basal lamina onion bulb formation 31 HP:0003400

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis

Skeletal Feet:
pes cavus

Voice:
vocal cord paresis (reported in 1 patient)

Neurologic Peripheral Nervous System:
areflexia
difficulty walking
distal sensory impairment
decreased motor nerve conduction velocity (ncv) (less than 38 m/s)
loss of large myelinated fibers
more
Neurologic Central Nervous System:
delayed motor development
sensory ataxia (less common)

Clinical features from OMIM®:

614895 (Updated 05-Mar-2021)

UMLS symptoms related to Charcot-Marie-Tooth Disease, Demyelinating, Type 4f:


ataxia, sensory

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 ARHGEF10 EGR2 FGD4 FIG4 GDAP1 MPZ
2 nervous system MP:0003631 9.4 ARHGEF10 DRP2 EGR2 FGD4 FIG4 GDAP1

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

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

Genetic Tests for Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 29 PRX

Anatomical Context for Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

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

40
Skeletal Muscle

Publications for Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

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

(show all 26)
# Title Authors PMID Year
1
Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 61 6 57
22847150 2012
2
Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene. 61 6 57
16534116 2006
3
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. 57 6 61
11157804 2001
4
Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene. 57 61 6
10848494 2000
5
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 57 6
15197604 2004
6
Periaxin mutations cause a broad spectrum of demyelinating neuropathies. 6 57
12112076 2002
7
Four novel cases of periaxin-related neuropathy and review of the literature. 57 61
21079185 2010
8
Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. 6
16770524 2006
9
A 71-nucleotide deletion in the periaxin gene in an Italian patient with late-onset slowly progressive demyelinating Charcot-Marie-Tooth disease. 61
32460404 2020
10
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family. 61
31011849 2019
11
A Case Report on Charcot-Marie-Tooth Disease with a Novel Periaxin Gene Mutation. 61
31523542 2019
12
Direct Binding of the Flexible C-Terminal Segment of Periaxin to β4 Integrin Suggests a Molecular Basis for CMT4F. 61
31024253 2019
13
A murine model of Charcot-Marie-Tooth disease 4F reveals a role for the C-terminus of periaxin in the formation and stabilization of Cajal bands. 61
29623298 2018
14
[Establishment of L-periaxin gene knock-out RSC96 cell line]. 61
29034641 2016
15
New mutation in periaxin gene causing Charcot Marie Tooth disease in a Puerto Rican young male. 61
24263033 2013
16
[Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients]. 61
24011642 2013
17
Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes. 61
21741241 2011
18
Genetic study of demyelinating form of autosomal-recessive Charcot-Marie-tooth diseases in a Turkish family. 61
19922348 2009
19
Remodeling of motor nerve terminals in demyelinating axons of periaxin-null mice. 61
18205176 2008
20
[Molecular genetics of inherited neuropathies]. 61
17432174 2006
21
[Molecular genetics of inherited neuropathies]. 61
16541790 2006
22
Neuropathology of Charcot-Marie-Tooth and related disorders. 61
16775365 2006
23
The function of the Periaxin gene during nerve repair in a model of CMT4F. 61
12090399 2002
24
Neuropathology of some hereditary conditions affecting central and peripheral nervous system. 61
12094560 2002
25
A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3. 61
11112660 2001
26
Charcot-Marie-Tooth Neuropathy Type 4 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301641 1998

Variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

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

6 (show top 50) (show all 152)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRX NM_020956.2(PRX):c.247del (p.Leu83fs) Deletion Pathogenic 38454 rs281865061 19:40904661-40904661 19:40398754-40398754
2 PRX NM_020956.2(PRX):c.*791C>T SNV Pathogenic 4791 rs104894706 19:40903673-40903673 19:40397766-40397766
3 PRX NM_020956.2(PRX):c.*590_*599dup Duplication Pathogenic 637915 rs1599656972 19:40903864-40903865 19:40397957-40397958
4 PRX NM_020956.2(PRX):c.*1399_*1402del Deletion Pathogenic 637393 rs1599655206 19:40903062-40903065 19:40397155-40397158
5 PRX NM_020956.2(PRX):c.*2156G>A SNV Pathogenic 38452 rs3814290 19:40902308-40902308 19:40396401-40396401
6 PRX NM_020956.2(PRX):c.*2303del Deletion Pathogenic 38453 rs281865062 19:40902161-40902161 19:40396254-40396254
7 PRX NM_020956.2(PRX):c.*3413C>T SNV Pathogenic 4794 rs104894708 19:40901051-40901051 19:40395144-40395144
8 PRX NM_020956.2(PRX):c.*1295C>T SNV Pathogenic 637398 rs144183238 19:40903169-40903169 19:40397262-40397262
9 PRX NM_020956.2(PRX):c.*3908G>T SNV Pathogenic 549686 rs1385904344 19:40900556-40900556 19:40394649-40394649
10 PRX NM_020956.2(PRX):c.*1184del Deletion Pathogenic 634532 rs1568708792 19:40903280-40903280 19:40397373-40397373
11 PRX NM_020956.2(PRX):c.*2350T>A SNV Pathogenic 4792 rs104894707 19:40902114-40902114 19:40396207-40396207
12 PRX NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) SNV Pathogenic 4787 rs104894714 19:40901402-40901402 19:40395495-40395495
13 PRX NM_181882.3(PRX):c.1561C>T (p.Gln521Ter) SNV Likely pathogenic 930783 19:40902698-40902698 19:40396791-40396791
14 PRX NM_181882.3(PRX):c.3085A>T (p.Arg1029Ter) SNV Likely pathogenic 800938 rs1599651726 19:40901174-40901174 19:40395267-40395267
15 PRX NM_181882.3(PRX):c.27+1G>T SNV Likely pathogenic 810637 19:40913812-40913812 19:40407905-40407905
16 PRX NM_020956.2(PRX):c.*2494del Deletion Likely pathogenic 208606 rs797045102 19:40901970-40901970 19:40396063-40396063
17 PRX NM_020956.2(PRX):c.*1421G>A SNV Conflicting interpretations of pathogenicity 220724 rs117336941 19:40903043-40903043 19:40397136-40397136
18 PRX NM_181882.3(PRX):c.1547G>A (p.Arg516Gln) SNV Uncertain significance 835178 19:40902712-40902712 19:40396805-40396805
19 PRX NM_020956.2(PRX):c.*3980G>A SNV Uncertain significance 387796 rs751742049 19:40900484-40900484 19:40394577-40394577
20 PRX NM_020956.2(PRX):c.*1751C>T SNV Uncertain significance 246316 rs144305922 19:40902713-40902713 19:40396806-40396806
21 PRX NM_020956.2(PRX):c.*1574G>A SNV Uncertain significance 476949 rs142064826 19:40902890-40902890 19:40396983-40396983
22 PRX NM_020956.2(PRX):c.*1420C>T SNV Uncertain significance 543461 rs377184301 19:40903044-40903044 19:40397137-40397137
23 PRX NM_020956.2(PRX):c.80C>A (p.Thr27Asn) SNV Uncertain significance 547996 rs1291881750 19:40909717-40909717 19:40403810-40403810
24 PRX NM_020956.2(PRX):c.*3476G>A SNV Uncertain significance 329257 rs368459753 19:40900988-40900988 19:40395081-40395081
25 PRX NM_020956.2(PRX):c.*2033G>A SNV Uncertain significance 329273 rs537664679 19:40902431-40902431 19:40396524-40396524
26 PRX NM_020956.2(PRX):c.*1127A>G SNV Uncertain significance 242187 rs753330520 19:40903337-40903337 19:40397430-40397430
27 PRX NM_020956.2(PRX):c.*1028C>A SNV Uncertain significance 216836 rs200033507 19:40903436-40903436 19:40397529-40397529
28 PRX NM_020956.2(PRX):c.*802C>T SNV Uncertain significance 329283 rs144157275 19:40903662-40903662 19:40397755-40397755
29 PRX NM_020956.2(PRX):c.*744C>T SNV Uncertain significance 329285 rs540526276 19:40903720-40903720 19:40397813-40397813
30 PRX NM_020956.2(PRX):c.*2487C>T SNV Uncertain significance 410601 rs530370432 19:40901977-40901977 19:40396070-40396070
31 PRX NM_020956.2(PRX):c.*2434C>T SNV Uncertain significance 476957 rs144975214 19:40902030-40902030 19:40396123-40396123
32 PRX NM_020956.2(PRX):c.*1231A>C SNV Uncertain significance 476947 rs150772010 19:40903233-40903233 19:40397326-40397326
33 PRX NM_020956.2(PRX):c.*1197C>T SNV Uncertain significance 652703 rs566629777 19:40903267-40903267 19:40397360-40397360
34 PRX NM_020956.2(PRX):c.*3114G>A SNV Uncertain significance 573889 rs764162630 19:40901350-40901350 19:40395443-40395443
35 PRX NM_020956.2(PRX):c.*3037T>C SNV Uncertain significance 386663 rs145226687 19:40901427-40901427 19:40395520-40395520
36 PRX NM_020956.2(PRX):c.*924G>A SNV Uncertain significance 476979 rs77917609 19:40903540-40903540 19:40397633-40397633
37 PRX NM_020956.2(PRX):c.*2933G>A SNV Uncertain significance 410602 rs145203783 19:40901531-40901531 19:40395624-40395624
38 PRX NM_181882.3(PRX):c.1777A>G (p.Met593Val) SNV Uncertain significance 893794 19:40902482-40902482 19:40396575-40396575
39 PRX NM_020956.2(PRX):c.*2895G>A SNV Uncertain significance 242181 rs752531623 19:40901569-40901569 19:40395662-40395662
40 PRX NM_020956.2(PRX):c.*1856G>A SNV Uncertain significance 245732 rs61733448 19:40902608-40902608 19:40396701-40396701
41 PRX NM_020956.2(PRX):c.*705G>C SNV Uncertain significance 329286 rs757322355 19:40903759-40903759 19:40397852-40397852
42 PRX NM_020956.2(PRX):c.*1198G>A SNV Uncertain significance 476984 rs146323928 19:40903266-40903266 19:40397359-40397359
43 PRX NM_181882.3(PRX):c.944G>A (p.Arg315Gln) SNV Uncertain significance 700201 rs577197549 19:40903315-40903315 19:40397408-40397408
44 PRX NM_020956.2(PRX):c.*4512G>A SNV Uncertain significance 543355 rs368827070 19:40899952-40899952 19:40394045-40394045
45 PRX NM_020956.2(PRX):c.*3391G>T SNV Uncertain significance 245910 rs139188673 19:40901073-40901073 19:40395166-40395166
46 PRX NM_020956.2(PRX):c.*4007G>C SNV Uncertain significance 382637 rs146061247 19:40900457-40900457 19:40394550-40394550
47 PRX NM_181882.3(PRX):c.2715C>A (p.Thr905=) SNV Uncertain significance 697161 rs188765166 19:40901544-40901544 19:40395637-40395637
48 PRX NM_181882.3(PRX):c.1818G>A (p.Pro606=) SNV Uncertain significance 893793 19:40902441-40902441 19:40396534-40396534
49 PRX NM_020956.2(PRX):c.*3913G>A SNV Uncertain significance 476966 rs202119177 19:40900551-40900551 19:40394644-40394644
50 PRX NM_020956.2(PRX):c.*3701C>T SNV Uncertain significance 216835 rs147826200 19:40900763-40900763 19:40394856-40394856

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

73
# Symbol AA change Variation ID SNP ID
1 PRX p.Asp651Asn VAR_069093 rs3814290

Expression for Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

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

Pathways for Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

GO Terms for Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

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

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.55 SBF2 PLD3 MTMR2 LITAF FIG4
2 late endosome membrane GO:0031902 9.43 PLD3 LITAF FIG4
3 vacuolar membrane GO:0005774 9.32 SBF2 MTMR2
4 early endosome membrane GO:0031901 9.26 PLD3 MTMR2 LITAF FIG4
5 endosome membrane GO:0010008 9.02 SBF2 PLD3 MTMR2 LITAF FIG4

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol dephosphorylation GO:0046856 9.4 MTMR2 FIG4
2 phosphatidylinositol metabolic process GO:0046488 9.37 MTMR2 FIG4
3 myelination in peripheral nervous system GO:0022011 9.32 SH3TC2 ARHGEF10
4 negative regulation of myelination GO:0031642 9.26 MTMR2 FIG4
5 myelin assembly GO:0032288 9.16 MTMR2 FIG4
6 peripheral nervous system myelin maintenance GO:0032287 8.96 SH3TC2 PRX
7 myelination GO:0042552 8.8 SBF2 MPZ EGR2

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

# Name GO ID Score Top Affiliating Genes
1 guanyl-nucleotide exchange factor activity GO:0005085 9.13 SBF2 FGD4 ARHGEF10
2 phosphatidylinositol-3-phosphatase activity GO:0004438 8.62 MTMR2 FIG4

Sources for Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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