MCID: CHR670
MIFTS: 33

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

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Fetal 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 73
Charcot-Marie-Tooth Disease Type 4f 12 53 59 15
Cmt4f 57 12 59 75
Charcot-Marie-Tooth Disease, Type 4f 57 13 40
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4f 75
Charcot-Marie-Tooth Neuropathy Type 4f 75
Charcot-Marie-Tooth Disease 4f 75
Dejerine-Sottas Disease 73

Characteristics:

Orphanet epidemiological data:

59
charcot-marie-tooth disease type 4f
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
variable age at onset (range from early childhood to mid-adult)


HPO:

32
charcot-marie-tooth disease, demyelinating, type 4f:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


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

UniProtKB/Swiss-Prot : 75 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 hypertrophic neuropathy of dejerine-sottas and neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive, 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 motor delay and areflexia

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)

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

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

(show all 19)
# Related Disease Score Top Affiliating Genes
1 hypertrophic neuropathy of dejerine-sottas 30.9 DRP2 GDAP1 MTMR2 PRX
2 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 28.6 DRP2 GDAP1 MTMR2 PRX SBF2
3 tooth disease 28.1 GDAP1 MTMR2 PRX SBF2
4 charcot-marie-tooth disease 27.3 DRP2 GDAP1 MTMR2 PRX SBF2
5 hereditary neuropathies 9.8 MTMR2 PRX
6 charcot-marie-tooth disease, demyelinating, type 1a 9.8 GDAP1 MTMR2
7 charcot-marie-tooth disease and deafness 9.7 GDAP1 MTMR2
8 peripheral nervous system disease 9.6 GDAP1 MTMR2
9 early-onset glaucoma 9.5 MTMR2 SBF2
10 charcot-marie-tooth disease, type 4j 9.4 MTMR2 SBF2
11 sensory peripheral neuropathy 9.4 GDAP1 MTMR2 PRX
12 axonal neuropathy 9.3 GDAP1 TDP1
13 centronuclear myopathy 9.1 MTMR2 SBF2
14 charcot-marie-tooth disease, type 4b3 8.9 GDAP1 MTMR2 SBF2
15 charcot-marie-tooth disease, axonal, type 2e 8.9 GDAP1 MTMR2 SBF2
16 neuropathy 8.5 GDAP1 PRX SBF2 TDP1
17 charcot-marie-tooth disease, type 4b1 8.5 GDAP1 MTMR2 PRX SBF2
18 charcot-marie-tooth disease, type 4b2 7.9 GDAP1 MTMR2 PRX SBF2 TDP1
19 charcot-marie-tooth disease, type 4a 7.9 GDAP1 MTMR2 PRX SBF2 TDP1

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis

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
Voice:
vocal cord paresis (reported in 1 patient)

Skeletal Feet:
pes cavus

Neurologic Central Nervous System:
delayed motor development
sensory ataxia (less common)


Clinical features from OMIM:

614895

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

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 motor delay 32 HP:0001270
2 areflexia 32 HP:0001284
3 vocal cord paresis 32 occasional (7.5%) HP:0001604
4 pes cavus 32 HP:0001761
5 difficulty walking 32 HP:0002355
6 scoliosis 32 HP:0002650
7 distal sensory impairment 32 HP:0002936
8 skeletal muscle atrophy 32 HP:0003202
9 decreased number of large peripheral myelinated nerve fibers 32 HP:0003387
10 basal lamina 'onion bulb' formation 32 HP:0003400
11 decreased motor nerve conduction velocity 32 HP:0003431
12 limb muscle weakness 32 HP:0003690
13 sensory ataxia 32 occasional (7.5%) HP:0010871
14 peripheral demyelination 32 HP:0011096

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 9.35 PRX SBF2 TDP1 GDAP1 MTMR2
2 nervous system MP:0003631 9.1 DRP2 GDAP1 MTMR2 PRX SBF2 TDP1

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:

41
Skeletal Muscle

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

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

# Title Authors Year
1
[A pedigree of Charcot-Marie-Tooth disease type 4F (Periaxin mutation)]. ( 15835292 )
2005

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

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

75
# Symbol AA change Variation ID SNP ID
1 PRX p.Asp651Asn VAR_069093 rs3814290

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

6
(show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRX NM_181882.2(PRX): c.2857C> T (p.Arg953Ter) single nucleotide variant Pathogenic rs104894714 GRCh37 Chromosome 19, 40901402: 40901402
2 PRX NM_181882.2(PRX): c.2857C> T (p.Arg953Ter) single nucleotide variant Pathogenic rs104894714 GRCh38 Chromosome 19, 40395495: 40395495
3 PRX NM_181882.2(PRX): c.586C> T (p.Arg196Ter) single nucleotide variant Pathogenic rs104894706 GRCh37 Chromosome 19, 40903673: 40903673
4 PRX NM_181882.2(PRX): c.586C> T (p.Arg196Ter) single nucleotide variant Pathogenic rs104894706 GRCh38 Chromosome 19, 40397766: 40397766
5 PRX NM_181882.2(PRX): c.2145T> A (p.Cys715Ter) single nucleotide variant Pathogenic rs104894707 GRCh37 Chromosome 19, 40902114: 40902114
6 PRX NM_181882.2(PRX): c.2145T> A (p.Cys715Ter) single nucleotide variant Pathogenic rs104894707 GRCh38 Chromosome 19, 40396207: 40396207
7 PRX NM_181882.2(PRX): c.3208C> T (p.Arg1070Ter) single nucleotide variant Pathogenic rs104894708 GRCh37 Chromosome 19, 40901051: 40901051
8 PRX NM_181882.2(PRX): c.3208C> T (p.Arg1070Ter) single nucleotide variant Pathogenic rs104894708 GRCh38 Chromosome 19, 40395144: 40395144
9 PRX NM_181882.2(PRX): c.1951G> A (p.Asp651Asn) single nucleotide variant Pathogenic rs3814290 GRCh37 Chromosome 19, 40902308: 40902308
10 PRX NM_181882.2(PRX): c.1951G> A (p.Asp651Asn) single nucleotide variant Pathogenic rs3814290 GRCh38 Chromosome 19, 40396401: 40396401
11 PRX NM_181882.2(PRX): c.2098delG (p.Ala700Profs) deletion Pathogenic rs281865062 GRCh37 Chromosome 19, 40902161: 40902161
12 PRX NM_181882.2(PRX): c.2098delG (p.Ala700Profs) deletion Pathogenic rs281865062 GRCh38 Chromosome 19, 40396254: 40396254
13 PRX NM_181882.2(PRX): c.247delC (p.Leu83Cysfs) deletion Pathogenic rs281865061 GRCh37 Chromosome 19, 40904661: 40904661
14 PRX NM_181882.2(PRX): c.247delC (p.Leu83Cysfs) deletion Pathogenic rs281865061 GRCh38 Chromosome 19, 40398754: 40398754
15 PRX NM_181882.2(PRX): c.2289delT (p.Asp765Thrfs) deletion Likely pathogenic rs797045102 GRCh37 Chromosome 19, 40901970: 40901970
16 PRX NM_181882.2(PRX): c.2289delT (p.Asp765Thrfs) deletion Likely pathogenic rs797045102 GRCh38 Chromosome 19, 40396063: 40396063
17 PRX NM_181882.2(PRX): c.4077_4079delGGA (p.Glu1361del) deletion Benign rs139624657 GRCh37 Chromosome 19, 40900180: 40900182
18 PRX NM_181882.2(PRX): c.4077_4079delGGA (p.Glu1361del) deletion Benign rs139624657 GRCh38 Chromosome 19, 40394273: 40394275
19 PRX NM_181882.2(PRX): c.1483G> C (p.Glu495Gln) single nucleotide variant Benign rs146789340 GRCh38 Chromosome 19, 40396869: 40396869
20 PRX NM_181882.2(PRX): c.1483G> C (p.Glu495Gln) single nucleotide variant Benign rs146789340 GRCh37 Chromosome 19, 40902776: 40902776
21 PRX NM_181882.2(PRX): c.2787delC (p.Lys930Serfs) deletion Pathogenic rs754521978 GRCh38 Chromosome 19, 40395565: 40395565
22 PRX NM_181882.2(PRX): c.2787delC (p.Lys930Serfs) deletion Pathogenic rs754521978 GRCh37 Chromosome 19, 40901472: 40901472
23 PRX NM_181882.2(PRX): c.1216G> A (p.Ala406Thr) single nucleotide variant Benign rs117336941 GRCh37 Chromosome 19, 40903043: 40903043
24 PRX NM_181882.2(PRX): c.1216G> A (p.Ala406Thr) single nucleotide variant Benign rs117336941 GRCh38 Chromosome 19, 40397136: 40397136

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 postsynaptic density GO:0014069 8.96 DRP2 MTMR2
2 vacuolar membrane GO:0005774 8.62 MTMR2 SBF2

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 protein tetramerization GO:0051262 8.62 MTMR2 SBF2

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

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