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 56 29 6 71
Charcot-Marie-Tooth Disease Type 4f 12 52 58 15
Cmt4f 56 12 58 73
Charcot-Marie-Tooth Disease, Type 4f 56 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:

56
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 56 614895
OMIM Phenotypic Series 56 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

OMIM : 56 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)

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 82)
# Related Disease Score Top Affiliating Genes
1 hereditary neuropathies 30.4 PRX MTMR2 MPZ GJB1
2 hypertrophic neuropathy of dejerine-sottas 28.4 SH3TC2 SBF2 PRX PES1 MTMR2 MPZ
3 neuropathy 28.0 SH3TC2 SBF2 PRX MTMR2 MPZ GJB1
4 neuropathy, congenital hypomyelinating, 1, autosomal recessive 27.8 SH3TC2 SBF2 PRX PES1 MTMR2 MPZ
5 tooth disease 26.7 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
6 peripheral nervous system disease 26.0 SH3TC2 SBF2 PRX PES1 MTMR2 MPZ
7 charcot-marie-tooth disease 25.5 SH3TC2 SBF2 PRX PLD3 PES1 MTMR2
8 ataxia and polyneuropathy, adult-onset 10.5
9 charcot-marie-tooth disease type 5 10.4 PRX PLD3
10 spinocerebellar ataxia 46 10.4 PRX PLD3
11 early-onset glaucoma 10.3 SBF2 MTMR2
12 charcot-marie-tooth disease, dominant intermediate d 10.2 SH3TC2 MPZ
13 charcot-marie-tooth disease, axonal, type 2a1 10.2 MPZ GDAP1
14 genetic motor neuron disease 10.2 SH3TC2 MPZ
15 charcot-marie-tooth disease, axonal, type 2l 10.1 MPZ GDAP1
16 strabismus 10.1
17 joint laxity, short stature, and myopia 10.1
18 scoliosis 10.1
19 myopia 10.1
20 progressive muscular atrophy 10.1
21 muscular atrophy 10.1
22 mechanical strabismus 10.1
23 infantile scoliosis 10.1
24 charcot-marie-tooth disease, axonal, type 2b2 10.1 MPZ GDAP1
25 autoimmune peripheral neuropathy 10.1 MPZ GJB1
26 corneal dystrophy, fleck 10.0 SBF2 MTMR2
27 sciatic neuropathy 10.0 SH3TC2 PES1
28 charcot-marie-tooth disease, axonal, type 2t 10.0 SH3TC2 SBF2 GDAP1
29 lesion of sciatic nerve 10.0 SH3TC2 PES1
30 charcot-marie-tooth disease, axonal, type 2w 10.0 MPZ GJB1 GDAP1
31 neuropathy, hereditary motor and sensory, russe type 10.0 SH3TC2 GDAP1 EGR2
32 charcot-marie-tooth disease, dominant intermediate c 9.9 MPZ GJB1 GDAP1
33 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.9 MPZ GJB1 EGR2
34 spinal muscular atrophy, distal, x-linked 3 9.8 PES1 GJB1
35 myopathy, centronuclear, x-linked 9.8 SBF2 MTMR2
36 mononeuropathy 9.8 SH3TC2 PES1 MPZ
37 waardenburg syndrome, type 4a 9.8 MPZ GJB1
38 charcot-marie-tooth disease, dominant intermediate a 9.8 PRX MPZ GJB1 GDAP1
39 nerve compression syndrome 9.8 SH3TC2 PES1 MPZ
40 charcot-marie-tooth disease x-linked recessive 4 9.8 PES1 MPZ GJB1
41 charcot-marie-tooth disease, axonal, type 2p 9.8 LITAF GDAP1
42 neuropathy, hereditary sensory and autonomic, type ic 9.8 SH3TC2 LITAF
43 charcot-marie-tooth disease, type 4k 9.8 SH3TC2 LITAF
44 hereditary motor and sensory neuropathy, type iic 9.7 SH3TC2 MPZ GJB1 GDAP1
45 charcot-marie-tooth disease, axonal, type 2d 9.7 SH3TC2 MPZ GJB1 GDAP1
46 yunis-varon syndrome 9.7 SBF2 MTMR2 GDAP1 FIG4
47 charcot-marie-tooth disease, dominant intermediate e 9.6 SH3TC2 SBF2 MTMR2 MPZ GDAP1
48 argyll robertson pupil 9.6 PES1 MPZ GDAP1 EGR2
49 pupil disease 9.6 PES1 MPZ GDAP1 EGR2
50 charcot-marie-tooth disease, type 4b3 9.6 SH3TC2 SBF2 MTMR2 MPZ GDAP1

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 difficulty walking 31 HP:0002355
10 distal sensory impairment 31 HP:0002936
11 limb muscle weakness 31 HP:0003690
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:

56
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

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


ataxia, sensory

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.55 MPZ SH3TC2
2 Decreased viability GR00381-A-1 9.55 CRB3 FGD4 FIG4 MPZ PES1 PRX
3 Decreased viability GR00381-A-3 9.55 MPZ
4 Decreased viability GR00386-A-1 9.55 CRB3 MPZ PES1
5 Decreased viability GR00402-S-2 9.55 CRB3 FGD4 MPZ PES1

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 EGR2 FGD4 FIG4 GDAP1 GJB1 MPZ
2 nervous system MP:0003631 9.4 DRP2 EGR2 FGD4 FIG4 GDAP1 GJB1

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 27)
# Title Authors PMID Year
1
Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 61 56 6
22847150 2012
2
Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene. 6 56 61
16534116 2006
3
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. 61 56 6
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. 56 61 6
10848494 2000
5
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. 56 6
15197604 2004
6
Periaxin mutations cause a broad spectrum of demyelinating neuropathies. 6 56
12112076 2002
7
Four novel cases of periaxin-related neuropathy and review of the literature. 61 56
21079185 2010
8
Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. 6
16770524 2006
9
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
10
A 71-nucleotide deletion in the periaxin gene in an Italian patient with late-onset slowly progressive demyelinating CMT. 61
32460404 2020
11
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family. 61
31011849 2019
12
A Case Report on Charcot-Marie-Tooth Disease with a Novel Periaxin Gene Mutation. 61
31523542 2019
13
Direct Binding of the Flexible C-Terminal Segment of Periaxin to β4 Integrin Suggests a Molecular Basis for CMT4F. 61
31024253 2019
14
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
15
[Establishment of L-periaxin gene knock-out RSC96 cell line]. 61
29034641 2016
16
New mutation in periaxin gene causing Charcot Marie Tooth disease in a Puerto Rican young male. 61
24263033 2013
17
[Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients]. 61
24011642 2013
18
Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes. 61
21741241 2011
19
Genetic study of demyelinating form of autosomal-recessive Charcot-Marie-tooth diseases in a Turkish family. 61
19922348 2009
20
Remodeling of motor nerve terminals in demyelinating axons of periaxin-null mice. 61
18205176 2008
21
[Molecular genetics of inherited neuropathies]. 61
17432174 2006
22
[Molecular genetics of inherited neuropathies]. 61
16541790 2006
23
Neuropathology of Charcot-Marie-Tooth and related disorders. 61
16775365 2006
24
The function of the Periaxin gene during nerve repair in a model of CMT4F. 61
12090399 2002
25
Neuropathology of some hereditary conditions affecting central and peripheral nervous system. 61
12094560 2002
26
A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3. 61
11112660 2001
27
Charcot-Marie-Tooth Neuropathy Type 4 – ARCHIVED 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:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRX NM_020956.2(PRX):c.*3908G>TSNV Pathogenic 549686 rs1385904344 19:40900556-40900556 19:40394649-40394649
2 PRX NM_020956.2(PRX):c.*1184deldeletion Pathogenic 634532 rs1568708792 19:40903280-40903280 19:40397373-40397373
3 PRX NM_020956.2(PRX):c.*1295C>TSNV Pathogenic 637398 19:40903169-40903169 19:40397262-40397262
4 PRX NM_181882.3(PRX):c.2857C>T (p.Arg953Ter)SNV Pathogenic 4787 rs104894714 19:40901402-40901402 19:40395495-40395495
5 PRX NM_020956.2(PRX):c.*2350T>ASNV Pathogenic 4792 rs104894707 19:40902114-40902114 19:40396207-40396207
6 PRX NM_020956.2(PRX):c.*3413C>TSNV Pathogenic 4794 rs104894708 19:40901051-40901051 19:40395144-40395144
7 PRX NM_181882.3(PRX):c.2787del (p.Lys930fs)deletion Pathogenic 217239 rs754521978 19:40901472-40901472 19:40395565-40395565
8 PRX NM_020956.2(PRX):c.*2494deldeletion Likely pathogenic 208606 rs797045102 19:40901970-40901970 19:40396063-40396063
9 PRX NM_181882.3(PRX):c.3085A>T (p.Arg1029Ter)SNV Likely pathogenic 800938 19:40901174-40901174 19:40395267-40395267
10 PRX NM_181882.3(PRX):c.27+1G>TSNV Likely pathogenic 810637 19:40913812-40913812 19:40407905-40407905
11 PRX NM_181882.3(PRX):c.3673G>A (p.Val1225Met)SNV Conflicting interpretations of pathogenicity 837941 19:40900586-40900586 19:40394679-40394679
12 PRX NM_020956.2(PRX):c.*1399_*1402deldeletion Conflicting interpretations of pathogenicity 637393 19:40903062-40903065 19:40397155-40397158
13 PRX NM_020956.2(PRX):c.*3980G>ASNV Conflicting interpretations of pathogenicity 387796 rs751742049 19:40900484-40900484 19:40394577-40394577
14 PRX NM_020956.2(PRX):c.*1420C>TSNV Conflicting interpretations of pathogenicity 543461 rs377184301 19:40903044-40903044 19:40397137-40397137
15 PRX NM_020956.2(PRX):c.*3913G>ASNV Conflicting interpretations of pathogenicity 476966 rs202119177 19:40900551-40900551 19:40394644-40394644
16 PRX NM_020956.2(PRX):c.*1231A>CSNV Conflicting interpretations of pathogenicity 476947 rs150772010 19:40903233-40903233 19:40397326-40397326
17 PRX NM_020956.2(PRX):c.*924G>ASNV Conflicting interpretations of pathogenicity 476979 rs77917609 19:40903540-40903540 19:40397633-40397633
18 PRX NM_020956.2(PRX):c.*1574G>ASNV Conflicting interpretations of pathogenicity 476949 rs142064826 19:40902890-40902890 19:40396983-40396983
19 PRX NM_020956.2(PRX):c.*2434C>TSNV Conflicting interpretations of pathogenicity 476957 rs144975214 19:40902030-40902030 19:40396123-40396123
20 PRX NM_020956.2(PRX):c.*1198G>ASNV Conflicting interpretations of pathogenicity 476984 rs146323928 19:40903266-40903266 19:40397359-40397359
21 PRX NM_020956.2(PRX):c.*3701C>TSNV Conflicting interpretations of pathogenicity 216835 rs147826200 19:40900763-40900763 19:40394856-40394856
22 PRX NM_020956.2(PRX):c.*2459G>ASNV Conflicting interpretations of pathogenicity 216834 rs147587689 19:40902005-40902005 19:40396098-40396098
23 PRX NM_020956.2(PRX):c.*2303deldeletion Conflicting interpretations of pathogenicity 38453 rs281865062 19:40902161-40902161 19:40396254-40396254
24 PRX NM_020956.2(PRX):c.247del (p.Leu83fs)deletion Conflicting interpretations of pathogenicity 38454 rs281865061 19:40904661-40904661 19:40398754-40398754
25 PRX NM_020956.2(PRX):c.*791C>TSNV Conflicting interpretations of pathogenicity 4791 rs104894706 19:40903673-40903673 19:40397766-40397766
26 PRX NM_020956.2(PRX):c.*590_*599dupduplication Conflicting interpretations of pathogenicity 637915 19:40903864-40903865 19:40397957-40397958
27 PRX NM_181882.3(PRX):c.2715C>A (p.Thr905=)SNV Conflicting interpretations of pathogenicity 697161 19:40901544-40901544 19:40395637-40395637
28 PRX NM_181882.3(PRX):c.944G>A (p.Arg315Gln)SNV Conflicting interpretations of pathogenicity 700201 19:40903315-40903315 19:40397408-40397408
29 PRX NM_181882.3(PRX):c.732G>A (p.Ala244=)SNV Conflicting interpretations of pathogenicity 698970 19:40903527-40903527 19:40397620-40397620
30 PRX NM_181882.3(PRX):c.3963G>A (p.Glu1321=)SNV Conflicting interpretations of pathogenicity 705888 19:40900296-40900296 19:40394389-40394389
31 PRX NM_181882.3(PRX):c.1818G>A (p.Pro606=)SNV Conflicting interpretations of pathogenicity 893793 19:40902441-40902441 19:40396534-40396534
32 PRX NM_020956.2(PRX):c.*1421G>ASNV Conflicting interpretations of pathogenicity 220724 rs117336941 19:40903043-40903043 19:40397136-40397136
33 PRX NM_020956.2(PRX):c.*1028C>ASNV Conflicting interpretations of pathogenicity 216836 rs200033507 19:40903436-40903436 19:40397529-40397529
34 PRX NM_020956.2(PRX):c.*1779T>CSNV Conflicting interpretations of pathogenicity 242179 rs149715830 19:40902685-40902685 19:40396778-40396778
35 PRX NM_020956.2(PRX):c.*4152C>TSNV Conflicting interpretations of pathogenicity 246123 rs142762689 19:40900312-40900312 19:40394405-40394405
36 PRX NM_020956.2(PRX):c.*3578G>ASNV Conflicting interpretations of pathogenicity 245663 rs148939995 19:40900886-40900886 19:40394979-40394979
37 PRX NM_020956.2(PRX):c.*3391G>TSNV Conflicting interpretations of pathogenicity 245910 rs139188673 19:40901073-40901073 19:40395166-40395166
38 PRX NM_020956.2(PRX):c.*1856G>ASNV Conflicting interpretations of pathogenicity 245732 rs61733448 19:40902608-40902608 19:40396701-40396701
39 PRX NM_020956.2(PRX):c.*3754C>TSNV Conflicting interpretations of pathogenicity 329256 rs367876251 19:40900710-40900710 19:40394803-40394803
40 PRX NM_020956.2(PRX):c.237C>T (p.Asp79=)SNV Conflicting interpretations of pathogenicity 329290 rs376174896 19:40904671-40904671 19:40398764-40398764
41 PRX NM_020956.2(PRX):c.*1165G>ASNV Conflicting interpretations of pathogenicity 329280 rs775367319 19:40903299-40903299 19:40397392-40397392
42 PRX NM_020956.2(PRX):c.*888G>ASNV Conflicting interpretations of pathogenicity 329282 rs562108874 19:40903576-40903576 19:40397669-40397669
43 PRX NM_020956.2(PRX):c.*802C>TSNV Conflicting interpretations of pathogenicity 329283 rs144157275 19:40903662-40903662 19:40397755-40397755
44 PRX NM_020956.2(PRX):c.*1705A>GSNV Conflicting interpretations of pathogenicity 329276 rs777104457 19:40902759-40902759 19:40396852-40396852
45 PRX NM_020956.2(PRX):c.*3037T>CSNV Conflicting interpretations of pathogenicity 386663 rs145226687 19:40901427-40901427 19:40395520-40395520
46 PRX NM_020956.2(PRX):c.*4007G>CSNV Conflicting interpretations of pathogenicity 382637 rs146061247 19:40900457-40900457 19:40394550-40394550
47 PRX NM_020956.2(PRX):c.*1773T>CSNV Uncertain significance 329275 rs550446238 19:40902691-40902691 19:40396784-40396784
48 PRX NM_020956.2(PRX):c.*1038C>TSNV Uncertain significance 329281 rs886054440 19:40903426-40903426 19:40397519-40397519
49 PRX NM_020956.2(PRX):c.379C>T (p.Leu127=)SNV Uncertain significance 329289 rs886054441 19:40904529-40904529 19:40398622-40398622
50 PRX NM_020956.2(PRX):c.-199+7G>CSNV Uncertain significance 329296 rs541213273 19:40914240-40914240 19:40408333-40408333

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 membrane GO:0016020 10.15 SBF2 PRX PLD3 PES1 MTMR2 MPZ
2 endosome GO:0005768 9.55 SBF2 PLD3 MTMR2 LITAF FIG4
3 late endosome membrane GO:0031902 9.43 PLD3 LITAF FIG4
4 vacuolar membrane GO:0005774 9.32 SBF2 MTMR2
5 early endosome membrane GO:0031901 9.26 PLD3 MTMR2 LITAF FIG4
6 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 metabolic process GO:0046488 9.32 MTMR2 FIG4
2 negative regulation of myelination GO:0031642 9.26 MTMR2 FIG4
3 myelin assembly GO:0032288 9.16 MTMR2 FIG4
4 peripheral nervous system myelin maintenance GO:0032287 8.96 SH3TC2 PRX
5 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 phosphatidylinositol-3-phosphatase activity GO:0004438 8.62 MTMR2 FIG4

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

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