CMT4C
MCID: CHR516
MIFTS: 50

Charcot-Marie-Tooth Disease, Type 4c (CMT4C)

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

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

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

Name: Charcot-Marie-Tooth Disease, Type 4c 56 29 13 6 39 71
Charcot-Marie-Tooth Disease Type 4c 12 24 52 58 15
Cmt4c 56 12 24 58 73
Charcot-Marie-Tooth Neuropathy Type 4c 12 24 73
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c 56 52
Charcot-Marie-Tooth Neuropathy, Type 4c 56 52
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4c 12
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4c 73
Charcot Marie Tooth Disease Type 4c 52
Charcot-Marie-Tooth Disease 4c 73
Cmt 4c 52

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
usually begins in feet and legs (peroneal distribution)
highly variable phenotype, even within families
onset usually in first or second decades
later onset has been reported (third or fourth decades)
patients may become wheelchair-bound
prevalent among european, particularly spanish, gypsies (r1109x, )


HPO:

31
charcot-marie-tooth disease, type 4c:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110183
OMIM 56 601596
OMIM Phenotypic Series 56 PS118220
MeSH 43 D002607
ICD10 32 G60.0
MESH via Orphanet 44 C535423
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C1866636
Orphanet 58 ORPHA99949
MedGen 41 C1866636
UMLS 71 C1866636

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

UniProtKB/Swiss-Prot : 73 Charcot-Marie-Tooth disease 4C: 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. CMT4C is characterized by onset in childhood, early-onset scoliosis and a distinct Schwann cell pathology.

MalaCards based summary : Charcot-Marie-Tooth Disease, Type 4c, also known as charcot-marie-tooth disease type 4c, is related to mononeuropathy of the median nerve, mild and neuropathy, and has symptoms including facial paresis An important gene associated with Charcot-Marie-Tooth Disease, Type 4c is SH3TC2 (SH3 Domain And Tetratricopeptide Repeats 2), and among its related pathways/superpathways are Vesicle-mediated transport and Factors involved in megakaryocyte development and platelet production. Affiliated tissues include tongue and testes, and related phenotypes are hearing impairment and scoliosis

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 4 that has material basis in homozygous or compound heterozygous mutation in the SH3TC2 gene.

More information from OMIM: 601596 PS118220
GeneReviews: NBK1340

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

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 4c via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 mononeuropathy of the median nerve, mild 31.2 SH3TC2 LOC114004390
2 neuropathy 29.8 SOX10 SH3TC2 SBF2 MTMR2 MPZ GJB1
3 polyneuropathy 29.6 SH3TC2 MPZ LITAF GJB1 GDAP1
4 hereditary neuropathies 29.2 NDRG1 MTMR2 MPZ KIF2B GJB1
5 neuropathy, congenital hypomyelinating, 1, autosomal recessive 27.9 SOX10 SH3TC2 SBF2 NDRG1 MTMR2 MPZ
6 peripheral nervous system disease 27.7 SOX10 SH3TC2 SBF2 MTMR2 MPZ LITAF
7 charcot-marie-tooth disease, demyelinating, type 1a 27.5 SOX10 SH3TC2 SBF2 MTMR2 MPZ LITAF
8 tooth disease 27.4 SOX10 SH3TC2 SBF2 NDRG1 MTMR2 MPZ
9 sensory peripheral neuropathy 26.7 SH3TC2 SBF2 NDRG1 MTMR2 MPZ LITAF
10 charcot-marie-tooth disease 25.9 SOX10 SH3TC2 SBF2 RAB11A NDRG1 MTMR2
11 scoliosis 10.9
12 seizures, benign familial neonatal, 1 10.5
13 friedreich ataxia 10.5
14 foot drop 10.5
15 carpal tunnel syndrome 10.4
16 ataxia and polyneuropathy, adult-onset 10.4
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
18 sciatic neuropathy 10.4
19 demyelinating polyneuropathy 10.4
20 muscular atrophy 10.4
21 pathologic nystagmus 10.4
22 auditory neuropathy spectrum disorder 10.4
23 charcot-marie-tooth disease type 2a 10.4
24 genetic motor neuron disease 10.1 SH3TC2 MPZ
25 early-onset glaucoma 10.1 SBF2 MTMR2
26 argyll robertson pupil 10.1 MPZ GDAP1
27 pupil disease 10.1 MPZ GDAP1
28 abnormal pupillary function 10.1 MPZ GDAP1
29 neuropathy, hereditary sensory and autonomic, type ic 10.1 SH3TC2 LITAF
30 charcot-marie-tooth disease, type 4k 10.1 SH3TC2 LITAF
31 mononeuropathy 10.1 SH3TC2 MPZ LOC114004390
32 charcot-marie-tooth disease, axonal, type 2t 10.1 SH3TC2 SBF2 GDAP1
33 nerve compression syndrome 10.0 SH3TC2 MPZ
34 autoimmune peripheral neuropathy 10.0 MPZ GJB1
35 yunis-varon syndrome 10.0 SBF2 MTMR2 GDAP1
36 charcot-marie-tooth disease x-linked recessive 4 9.9 MPZ GJB1
37 charcot-marie-tooth disease, axonal, type 2n 9.9 KIF1B GDAP1
38 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.9 SOX10 MPZ GJB1
39 leukodystrophy, hypomyelinating, 2 9.9 SOX10 GJB1
40 charcot-marie-tooth disease, axonal, type 2p 9.9 LITAF GDAP1
41 charcot-marie-tooth disease, dominant intermediate a 9.9 MPZ GJB1 GDAP1
42 waardenburg syndrome, type 4a 9.9 SOX10 MPZ GJB1
43 charcot-marie-tooth disease, axonal, type 2w 9.9 MPZ GJB1 GDAP1
44 charcot-marie-tooth disease, dominant intermediate d 9.9 SH3TC2 MPZ KIF1B
45 charcot-marie-tooth disease, dominant intermediate c 9.9 MPZ GJB1 GDAP1
46 motor peripheral neuropathy 9.8 SH3TC2 LITAF GJB1
47 autosomal dominant distal hereditary motor neuronopathy 9.8 SH3TC2 MPZ LITAF
48 charcot-marie-tooth disease, axonal, type 2a1 9.8 MPZ KIF1B GDAP1
49 charcot-marie-tooth disease, axonal, type 2l 9.8 MPZ KIF1B GDAP1
50 charcot-marie-tooth disease, axonal, type 2b2 9.8 MPZ KIF1B GDAP1

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



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

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

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

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 scoliosis 31 HP:0002650
3 nystagmus 31 HP:0000639
4 motor delay 31 HP:0001270
5 abnormal cranial nerve morphology 31 HP:0001291
6 facial palsy 31 HP:0010628
7 pes cavus 31 HP:0001761
8 decreased motor nerve conduction velocity 31 HP:0003431
9 distal amyotrophy 31 HP:0003693
10 distal muscle weakness 31 HP:0002460
11 difficulty walking 31 HP:0002355
12 distal sensory impairment 31 HP:0002936
13 upper limb muscle weakness 31 HP:0003484
14 tongue atrophy 31 HP:0012473
15 abnormal pupillary light reflex 31 HP:0007695
16 tongue fasciculations 31 HP:0001308
17 decreased number of large peripheral myelinated nerve fibers 31 HP:0003387
18 axonal degeneration 31 HP:0040078
19 prolonged brainstem auditory evoked potentials 31 HP:0004466
20 peripheral axonal degeneration 31 HP:0000764
21 basal lamina onion bulb formation 31 HP:0003400
22 segmental peripheral demyelination 31 HP:0007107

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
abnormal pupillary light reflexes

Neurologic Peripheral Nervous System:
difficulty walking
decreased motor nerve conduction velocity (ncv) (less than 38 m/s)
loss of large myelinated fibers
basal lamina 'onion bulb' formations seen on nerve biopsy
cranial nerve involvement
more
Neurologic Central Nervous System:
delayed motor development

Head And Neck Face:
facial weakness
cranial nerve involvement

Skeletal Feet:
pes cavus
foot deformities

Head And Neck Mouth:
tongue atrophy
tongue fasciculations
tongue weakness

Head And Neck Ears:
deafness
prolonged brainstem auditory evoked potentials (baep)

Skeletal Spine:
scoliosis, early-onset, severe

Clinical features from OMIM:

601596

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


facial paresis

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 CREB1 FGD4 GDAP1 GJB1 KIF1B MPZ
2 nervous system MP:0003631 9.4 CREB1 FGD4 GDAP1 GJB1 KIF1B LITAF

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others Recruiting NCT01193075

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

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

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 4c 29 SH3TC2

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

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

40
Tongue, Testes

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

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

(show top 50) (show all 82)
# Title Authors PMID Year
1
The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. 24 56 6 61
19272779 2009
2
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. 56 24 6 61
18511281 2008
3
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. 24 56 6 61
16924012 2006
4
A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes. 24 6 61 56
16326826 2005
5
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. 56 24 6 61
14574644 2003
6
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. 6 56 61
17470135 2007
7
High frequency of SH3TC2 mutations in Czech HMSN I patients. 61 24 56
21291453 2011
8
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. 56 6
20220177 2010
9
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system. 61 56 24
19805030 2009
10
Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2. 24 61 56
16806930 2006
11
Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33. 24 56
10209165 1999
12
A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease. 24 56
9109869 1997
13
Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. 24 56
8894708 1996
14
Charcot-Marie-Tooth Neuropathy Type 4C 61 6
20301514 2008
15
Charcot-Marie-Tooth Neuropathy Type 4 – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6 61
20301641 1998
16
Sh3tc2 deficiency affects neuregulin-1/ErbB signaling. 61 24
23553667 2013
17
Charcot-Marie-Tooth disease type 4C in Japan: report of a case. 61 24
23281072 2013
18
Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C. 24 61
22462672 2012
19
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease. 61 24
21892769 2012
20
Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C. 61 24
20028792 2010
21
Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1. 56
10602360 1999
22
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
23
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. 24
24027061 2013
24
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy. 24
23562820 2013
25
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. 24
22961002 2012
26
Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. 24
22577229 2012
27
Genetic spectrum of hereditary neuropathies with onset in the first year of life. 24
21840889 2011
28
EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders. 24
20500522 2011
29
Charcot-Marie-Tooth and pain: correlations with neurophysiological, clinical, and disability findings. 24
18612771 2008
30
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. 24
17717711 2007
31
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families. 24
17347251 2007
32
Pain and neuromuscular disease: the results of a survey. 24
16924188 2006
33
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. 24
15805163 2005
34
Pregnancies and deliveries in patients with Charcot-Marie-Tooth disease. 24
15699375 2005
35
Current Therapy for Charcot-Marie-Tooth Disease. 24
15610704 2005
36
Clinicopathological and genetic study of early-onset demyelinating neuropathy. 24
15469949 2004
37
Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. 24
12707075 2003
38
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. 24
12499475 2002
39
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. 24
12368912 2002
40
Assessment of pain and health-related quality of life in slowly progressive neuromuscular disease. 24
12173612 2002
41
The pathogenesis and surgical management of foot deformity in Charcot-Marie-Tooth disease. 24
11232233 2000
42
The tetratricopeptide repeat: a structural motif mediating protein-protein interactions. 24
10517866 1999
43
SH3 domains in prokaryotes. 24
10322416 1999
44
Neuropathic pain in Charcot-Marie-Tooth disease. 24
9862301 1998
45
A population-based case-control study of risk factors for breech presentation. 24
8572022 1996
46
Anaesthesia for Charcot-Marie-Tooth disease: a review of 86 cases. 24
1563065 1992
47
Neuromyotonia in hereditary motor neuropathy. 24
1851512 1991
48
Gene therapy approaches targeting Schwann cells for demyelinating neuropathies. 61
31790684 2020
49
Investigation of Mutations in Exon 14 of SH3TC2 Gene and Exon 7 of NDRG1 Gene in Iranian Charcot-Marie-Tooth Disease Type 4 (CMT4D) Patients. 61
32256628 2020
50
Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants. 61
31634715 2019

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

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

6 (show top 50) (show all 568) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SH3TC2 NM_024577.3(SH3TC2):c.3675+2dupduplication Pathogenic 545475 rs1554120215 5:148386441-148386442 5:149006878-149006879
2 SH3TC2 NM_024577.3(SH3TC2):c.1378C>T (p.Gln460Ter)SNV Pathogenic 637510 5:148407917-148407917 5:149028354-149028354
3 SH3TC2 NM_024577.3(SH3TC2):c.58G>T (p.Glu20Ter)SNV Pathogenic 637956 5:148431798-148431798 5:149052235-149052235
4 SH3TC2 NM_024577.4(SH3TC2):c.2189del (p.Gly730fs)deletion Pathogenic 802162 5:148407106-148407106 5:149027543-149027543
5 SH3TC2 NM_024577.4(SH3TC2):c.974del (p.Asn325fs)deletion Pathogenic 802163 5:148417885-148417885 5:149038322-149038322
6 SH3TC2 NM_024577.3(SH3TC2):c.1747_1748delAGshort repeat Pathogenic 2479 rs80338924 5:148407547-148407548 5:149027984-149027985
7 SH3TC2 NM_024577.3(SH3TC2):c.2829T>G (p.Tyr943Ter)SNV Pathogenic 2481 rs80338932 5:148406466-148406466 5:149026903-149026903
8 SH3TC2 NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys)SNV Pathogenic 21689 rs80338925 5:148407326-148407326 5:149027763-149027763
9 SH3TC2 NM_024577.3(SH3TC2):c.2191del (p.Glu731fs)deletion Pathogenic 21693 rs80338928 5:148407104-148407104 5:149027541-149027541
10 SH3TC2 NM_024577.3(SH3TC2):c.2491_2492delAGshort repeat Pathogenic 21694 rs80338929 5:148406803-148406804 5:149027240-149027241
11 SH3TC2 NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)SNV Pathogenic 2483 rs80338934 5:148389835-148389835 5:149010272-149010272
12 SH3TC2 NM_024577.3(SH3TC2):c.2710C>T (p.Arg904Ter)SNV Pathogenic 21696 rs80338931 5:148406585-148406585 5:149027022-149027022
13 SH3TC2 NM_024577.3(SH3TC2):c.3341del (p.Pro1114fs)deletion Pathogenic 21699 rs80338936 5:148388551-148388551 5:149008988-149008988
14 SH3TC2 NM_024577.3(SH3TC2):c.3601C>T (p.Gln1201Ter)SNV Pathogenic 21700 rs80338937 5:148386518-148386518 5:149006955-149006955
15 SH3TC2 NM_024577.3(SH3TC2):c.820_821insT (p.Lys274fs)insertion Pathogenic 243068 rs879253859 5:148418038-148418039 5:149038475-149038476
16 SH3TC2 NM_024577.3(SH3TC2):c.1A>G (p.Met1Val)SNV Pathogenic/Likely pathogenic 218918 rs864309709 5:148442585-148442585 5:149063022-149063022
17 SH3TC2 NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys)SNV Pathogenic/Likely pathogenic 21690 rs80338926 5:148407323-148407323 5:149027760-149027760
18 SH3TC2 NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)SNV Pathogenic/Likely pathogenic 2482 rs80338933 5:148406435-148406435 5:149026872-149026872
19 SH3TC2 NM_024577.4(SH3TC2):c.1712T>C (p.Leu571Pro)SNV Likely pathogenic 816530 5:148407583-148407583 5:149028020-149028020
20 SH3TC2 NM_024577.4(SH3TC2):c.3291del (p.Thr1098fs)deletion Likely pathogenic 827816 5:148389869-148389869 5:149010306-149010306
21 SH3TC2 NM_024577.4(SH3TC2):c.2431C>T (p.Gln811Ter)SNV Likely pathogenic 666347 5:148406864-148406864 5:149027301-149027301
22 SH3TC2 NM_024577.3(SH3TC2):c.2640del (p.Asn881fs)deletion Likely pathogenic 617576 rs1561764569 5:148406655-148406655 5:149027092-149027092
23 SH3TC2 NM_024577.3(SH3TC2):c.1403C>T (p.Ala468Val)SNV Conflicting interpretations of pathogenicity 546985 rs6874630 5:148407892-148407892 5:149028329-149028329
24 SH3TC2 NM_024577.3(SH3TC2):c.3676-8G>ASNV Conflicting interpretations of pathogenicity 426503 rs772823083 5:148384473-148384473 5:149004910-149004910
25 SH3TC2 NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys)SNV Conflicting interpretations of pathogenicity 448370 rs759785462 5:148386608-148386608 5:149007045-149007045
26 SH3TC2 NM_024577.3(SH3TC2):c.1002-7G>ASNV Conflicting interpretations of pathogenicity 476879 rs752528409 5:148411257-148411257 5:149031694-149031694
27 SH3TC2 NM_024577.4(SH3TC2):c.*21149A>GSNV Conflicting interpretations of pathogenicity 907744 5:148363125-148363125 5:148983562-148983562
28 SH3TC2 NM_024577.4(SH3TC2):c.*20882A>GSNV Conflicting interpretations of pathogenicity 904419 5:148363392-148363392 5:148983829-148983829
29 SH3TC2 NM_024577.4(SH3TC2):c.*20787G>ASNV Conflicting interpretations of pathogenicity 905216 5:148363487-148363487 5:148983924-148983924
30 SH3TC2 NM_024577.4(SH3TC2):c.*15639A>GSNV Conflicting interpretations of pathogenicity 906123 5:148368635-148368635 5:148989072-148989072
31 SH3TC2 NM_024577.3(SH3TC2):c.530-2A>GSNV Conflicting interpretations of pathogenicity 2480 rs80338920 5:148421182-148421182 5:149041619-149041619
32 SH3TC2 NM_024577.3(SH3TC2):c.1982T>C (p.Leu661Pro)SNV Conflicting interpretations of pathogenicity 21691 rs80338927 5:148407313-148407313 5:149027750-149027750
33 SH3TC2 NM_024577.3(SH3TC2):c.217_227delinsCCAGTAA (p.Ala73fs)indel Conflicting interpretations of pathogenicity 21692 rs80338919 5:148427477-148427487 5:149047914-149047924
34 SH3TC2 NM_024577.4(SH3TC2):c.1507G>A (p.Glu503Lys)SNV Conflicting interpretations of pathogenicity 906543 5:148407788-148407788 5:149028225-149028225
35 SH3TC2 NM_024577.4(SH3TC2):c.*11589C>TSNV Conflicting interpretations of pathogenicity 906373 5:148372685-148372685 5:148993122-148993122
36 SH3TC2 NM_024577.4(SH3TC2):c.*9872T>CSNV Conflicting interpretations of pathogenicity 904226 5:148374402-148374402 5:148994839-148994839
37 SH3TC2 NM_024577.4(SH3TC2):c.660G>C (p.Val220=)SNV Conflicting interpretations of pathogenicity 697396 5:148421050-148421050 5:149041487-149041487
38 SH3TC2 NM_024577.4(SH3TC2):c.*11927T>CSNV Conflicting interpretations of pathogenicity 905860 5:148372347-148372347 5:148992784-148992784
39 SH3TC2 NM_024577.4(SH3TC2):c.*11357G>ASNV Conflicting interpretations of pathogenicity 904044 5:148372917-148372917 5:148993354-148993354
40 SH3TC2 NM_024577.3(SH3TC2):c.3813C>T (p.Ser1271=)SNV Conflicting interpretations of pathogenicity 219968 rs140985600 5:148384328-148384328 5:149004765-149004765
41 SH3TC2 NM_024577.3(SH3TC2):c.3315G>A (p.Val1105=)SNV Conflicting interpretations of pathogenicity 215924 rs375970910 5:148389845-148389845 5:149010282-149010282
42 SH3TC2 NM_024577.3(SH3TC2):c.2304C>T (p.Leu768=)SNV Conflicting interpretations of pathogenicity 220505 rs140829706 5:148406991-148406991 5:149027428-149027428
43 SH3TC2 NM_024577.3(SH3TC2):c.689T>C (p.Val230Ala)SNV Conflicting interpretations of pathogenicity 219388 rs148634904 5:148421021-148421021 5:149041458-149041458
44 SH3TC2 NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro)SNV Conflicting interpretations of pathogenicity 219741 rs146162276 5:148431719-148431719 5:149052156-149052156
45 SH3TC2 NM_024577.3(SH3TC2):c.79A>G (p.Thr27Ala)SNV Conflicting interpretations of pathogenicity 220296 rs141649676 5:148431777-148431777 5:149052214-149052214
46 SH3TC2 NM_024577.3(SH3TC2):c.645C>T (p.Ser215=)SNV Conflicting interpretations of pathogenicity 130301 rs80227512 5:148421065-148421065 5:149041502-149041502
47 SH3TC2 NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val)SNV Conflicting interpretations of pathogenicity 188089 rs146920285 5:148384455-148384455 5:149004892-149004892
48 SH3TC2 NM_024577.3(SH3TC2):c.1862G>A (p.Arg621His)SNV Conflicting interpretations of pathogenicity 193930 rs143032801 5:148407433-148407433 5:149027870-149027870
49 SH3TC2 NM_024577.3(SH3TC2):c.1298C>T (p.Ser433Leu)SNV Conflicting interpretations of pathogenicity 281116 rs200967041 5:148407997-148407997 5:149028434-149028434
50 SH3TC2 NM_024577.3(SH3TC2):c.3380G>A (p.Arg1127Gln)SNV Conflicting interpretations of pathogenicity 234414 rs139192433 5:148388512-148388512 5:149008949-149008949

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

73
# Symbol AA change Variation ID SNP ID
1 SH3TC2 p.Arg529Gln VAR_018268 rs863224454
2 SH3TC2 p.Glu657Lys VAR_018269 rs80338925
3 SH3TC2 p.Arg658Cys VAR_018270 rs80338926

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

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

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 SBF2 RAB11A KIF2B KIF20A KIF1B GJB1
2 11.53 KIF2B KIF20A KIF1B
3 10.81 SOX10 MPZ GJB1

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

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.03 SOX10 SBF2 RAB11A NDRG1 MTMR2 LITAF
2 microtubule GO:0005874 9.46 NDRG1 KIF2B KIF20A KIF1B
3 vacuolar membrane GO:0005774 9.32 SBF2 MTMR2
4 kinesin complex GO:0005871 9.13 KIF2B KIF20A KIF1B
5 axon GO:0030424 9.02 SBF2 RAB11A MTMR2 KIF1B CREB1

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

# Name GO ID Score Top Affiliating Genes
1 microtubule-based movement GO:0007018 9.13 KIF2B KIF20A KIF1B
2 peripheral nervous system myelin maintenance GO:0032287 8.62 SH3TC2 NDRG1

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

# Name GO ID Score Top Affiliating Genes
1 motor activity GO:0003774 9.33 KIF2B KIF20A KIF1B
2 microtubule motor activity GO:0003777 9.13 KIF2B KIF20A KIF1B
3 microtubule binding GO:0008017 9.02 RAB11A NDRG1 KIF2B KIF20A KIF1B

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

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