CMT4C
MCID: CHR516
MIFTS: 44

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 57 29 13 6 40 72
Charcot-Marie-Tooth Disease Type 4c 12 24 53 59 15
Cmt4c 57 12 24 59 74
Charcot-Marie-Tooth Neuropathy Type 4c 12 24 74
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c 57 53
Charcot-Marie-Tooth Neuropathy, Type 4c 57 53
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4c 12
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4c 74
Charcot Marie Tooth Disease Type 4c 53
Charcot-Marie-Tooth Disease 4c 74
Cmt 4c 53

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
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
genetic heterogeneity (see cmt4a )
prevalent among european, particularly spanish, gypsies (r1109x, )


HPO:

32
charcot-marie-tooth disease, type 4c:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110183
MeSH 44 D002607
ICD10 33 G60.0
MESH via Orphanet 45 C535423
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 73 C1866636
Orphanet 59 ORPHA99949
MedGen 42 C1866636
UMLS 72 C1866636

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

UniProtKB/Swiss-Prot : 74 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 tooth disease and charcot-marie-tooth disease, 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 Vasopressin-regulated water reabsorption and Melanocyte Development and Pigmentation. The drugs HIV Protease Inhibitors and protease inhibitors have been mentioned in the context of this disorder. Affiliated tissues include tongue and testes, and related phenotypes are nystagmus 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 2a2 Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease Type 2a Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Disease Type 2g
Charcot-Marie-Tooth Disease Type 2k Charcot-Marie-Tooth Disease Type 2l
Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease Type 2o
Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 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 all 26)
# Related Disease Score Top Affiliating Genes
1 tooth disease 31.5 SH3TC2 GDAP1
2 charcot-marie-tooth disease 30.9 SOX10 SH3TC2 GDAP1
3 peripheral nervous system disease 30.4 SH3TC2 GDAP1
4 neuropathy, congenital hypomyelinating, 1, autosomal recessive 11.4
5 scoliosis 10.9
6 neuropathy 10.9
7 charcot-marie-tooth disease, demyelinating, type 1a 10.6
8 seizures, benign familial neonatal, 1 10.5
9 friedreich ataxia 1 10.5
10 foot drop 10.5
11 carpal tunnel syndrome 10.4
12 ataxia and polyneuropathy, adult-onset 10.4
13 mononeuropathy of the median nerve, mild 10.4
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
15 sciatic neuropathy 10.4
16 polyneuropathy 10.4
17 sensory peripheral neuropathy 10.4
18 demyelinating polyneuropathy 10.4
19 muscular atrophy 10.4
20 pathologic nystagmus 10.4
21 auditory neuropathy spectrum disorder 10.4
22 charcot-marie-tooth disease type 2a 10.4
23 hereditary neuropathies 10.4
24 charcot-marie-tooth disease, type 4d 9.9 SH3TC2 GDAP1
25 charcot-marie-tooth disease and deafness 9.9 SH3TC2 GDAP1
26 hypertrophic neuropathy of dejerine-sottas 9.8 SH3TC2 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:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 scoliosis 32 HP:0002650
3 facial palsy 32 HP:0010628
4 hearing impairment 32 HP:0000365
5 tongue fasciculations 32 HP:0001308
6 pes cavus 32 HP:0001761
7 decreased motor nerve conduction velocity 32 HP:0003431
8 motor delay 32 HP:0001270
9 difficulty walking 32 HP:0002355
10 distal amyotrophy 32 HP:0003693
11 upper limb muscle weakness 32 HP:0003484
12 distal muscle weakness 32 HP:0002460
13 distal sensory impairment 32 HP:0002936
14 tongue atrophy 32 HP:0012473
15 abnormal pupillary light reflex 32 HP:0007695
16 decreased number of large peripheral myelinated nerve fibers 32 HP:0003387
17 axonal degeneration 32 HP:0040078
18 abnormal cranial nerve morphology 32 HP:0001291
19 peripheral axonal degeneration 32 HP:0000764
20 basal lamina onion bulb formation 32 HP:0003400
21 prolonged brainstem auditory evoked potentials 32 HP:0004466
22 segmental peripheral demyelination 32 HP:0007107

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
abnormal pupillary light reflexes

Skeletal Feet:
pes cavus
foot deformities

Neurologic Central Nervous System:
delayed motor development

Head And Neck Face:
facial weakness
cranial nerve involvement

Head And Neck Mouth:
tongue fasciculations
tongue atrophy
tongue weakness

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 on nerve biopsy
cranial nerve involvement
more
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

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

Drugs for Charcot-Marie-Tooth Disease, Type 4c (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 HIV Protease Inhibitors
2
protease inhibitors
3 4-des-dimethylaminotetracycline
4 Matrix Metalloproteinase Inhibitors

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:

41
Tongue, Testes

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

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

(show top 50) (show all 79)
# 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. 38 4 8 71
19272779 2009
2
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. 38 4 8 71
18511281 2008
3
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. 38 4 8 71
16924012 2006
4
A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes. 38 4 8 71
16326826 2005
5
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. 38 4 8 71
14574644 2003
6
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. 38 8 71
17470135 2007
7
High frequency of SH3TC2 mutations in Czech HMSN I patients. 38 4 8
21291453 2011
8
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. 8 71
20220177 2010
9
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system. 38 4 8
19805030 2009
10
Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2. 38 4 8
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. 4 8
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. 4 8
9109869 1997
13
Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. 4 8
8894708 1996
14
Charcot-Marie-Tooth Neuropathy Type 4C 38 71
20301514 2008
15
Charcot-Marie-Tooth Neuropathy Type 4 38 71
20301641 1998
16
Sh3tc2 deficiency affects neuregulin-1/ErbB signaling. 38 4
23553667 2013
17
Charcot-Marie-Tooth disease type 4C in Japan: report of a case. 38 4
23281072 2013
18
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease. 38 4
21892769 2012
19
Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C. 38 4
22462672 2012
20
Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C. 38 4
20028792 2010
21
Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1. 8
10602360 1999
22
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 71
20301532 1998
23
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. 4
24027061 2013
24
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy. 4
23562820 2013
25
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. 4
22961002 2012
26
Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. 4
22577229 2012
27
Genetic spectrum of hereditary neuropathies with onset in the first year of life. 4
21840889 2011
28
EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders. 4
20500522 2011
29
Charcot-Marie-Tooth and pain: correlations with neurophysiological, clinical, and disability findings. 4
18612771 2008
30
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. 4
17717711 2007
31
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families. 4
17347251 2007
32
Pain and neuromuscular disease: the results of a survey. 4
16924188 2006
33
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. 4
15805163 2005
34
Pregnancies and deliveries in patients with Charcot-Marie-Tooth disease. 4
15699375 2005
35
Current Therapy for Charcot-Marie-Tooth Disease. 4
15610704 2005
36
Clinicopathological and genetic study of early-onset demyelinating neuropathy. 4
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. 4
12707075 2003
38
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. 4
12499475 2002
39
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. 4
12368912 2002
40
Assessment of pain and health-related quality of life in slowly progressive neuromuscular disease. 4
12173612 2002
41
The pathogenesis and surgical management of foot deformity in Charcot-Marie-Tooth disease. 4
11232233 2000
42
The tetratricopeptide repeat: a structural motif mediating protein-protein interactions. 4
10517866 1999
43
SH3 domains in prokaryotes. 4
10322416 1999
44
Neuropathic pain in Charcot-Marie-Tooth disease. 4
9862301 1998
45
A population-based case-control study of risk factors for breech presentation. 4
8572022 1996
46
Anaesthesia for Charcot-Marie-Tooth disease: a review of 86 cases. 4
1563065 1992
47
Neuromyotonia in hereditary motor neuropathy. 4
1851512 1991
48
Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients. 38
31227790 2019
49
Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy. 38
30907403 2019
50
Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum. 38
30653784 2019

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

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

6 (show all 30)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SH3TC2 NM_024577.3(SH3TC2): c.3675+2dupT duplication Pathogenic rs1554120215 5:148386442-148386442 5:149006879-149006879
2 SH3TC2 NM_024577.3(SH3TC2): c.1586G> A (p.Arg529His) single nucleotide variant Pathogenic rs80338923 5:148407709-148407709 5:149028146-149028146
3 SH3TC2 NM_024577.3(SH3TC2): c.1745_1746AG[1] (p.Arg583fs) short repeat Pathogenic rs80338924 5:148407547-148407548 5:149027984-149027985
4 SH3TC2 NM_024577.3(SH3TC2): c.2829T> G (p.Tyr943Ter) single nucleotide variant Pathogenic rs80338932 5:148406466-148406466 5:149026903-149026903
5 SH3TC2 NM_024577.3(SH3TC2): c.1969G> A (p.Glu657Lys) single nucleotide variant Pathogenic rs80338925 5:148407326-148407326 5:149027763-149027763
6 SH3TC2 NM_024577.3(SH3TC2): c.3325C> T (p.Arg1109Ter) single nucleotide variant Pathogenic rs80338934 5:148389835-148389835 5:149010272-149010272
7 SH3TC2 NM_024577.3(SH3TC2): c.2191del (p.Glu731fs) deletion Pathogenic rs80338928 5:148407104-148407104 5:149027541-149027541
8 SH3TC2 NM_024577.3(SH3TC2): c.2487_2488AG[2] (p.Leu832fs) short repeat Pathogenic rs80338929 5:148406803-148406804 5:149027240-149027241
9 SH3TC2 NM_024577.3(SH3TC2): c.2710C> T (p.Arg904Ter) single nucleotide variant Pathogenic rs80338931 5:148406585-148406585 5:149027022-149027022
10 SH3TC2 NM_024577.3(SH3TC2): c.3341del (p.Pro1114fs) deletion Pathogenic rs80338936 5:148388551-148388551 5:149008988-149008988
11 SH3TC2 NM_024577.3(SH3TC2): c.3601C> T (p.Gln1201Ter) single nucleotide variant Pathogenic rs80338937 5:148386518-148386518 5:149006955-149006955
12 SH3TC2 NM_024577.3(SH3TC2): c.820_821insT (p.Lys274fs) insertion Pathogenic rs879253859 5:148418038-148418039 5:149038475-149038476
13 SH3TC2 NM_024577.3(SH3TC2): c.58G> T (p.Glu20Ter) single nucleotide variant Pathogenic 5:148431798-148431798 5:149052235-149052235
14 SH3TC2 NM_024577.3(SH3TC2): c.2860C> T (p.Arg954Ter) single nucleotide variant Pathogenic/Likely pathogenic rs80338933 5:148406435-148406435 5:149026872-149026872
15 SH3TC2 NM_024577.3(SH3TC2): c.1972C> T (p.Arg658Cys) single nucleotide variant Likely pathogenic rs80338926 5:148407323-148407323 5:149027760-149027760
16 SH3TC2 NM_024577.3(SH3TC2): c.2640del (p.Asn881fs) deletion Likely pathogenic 5:148406655-148406655 5:149027092-149027092
17 SH3TC2 NM_024577.3(SH3TC2): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs864309709 5:148442585-148442585 5:149063022-149063022
18 SH3TC2 NM_024577.3(SH3TC2): c.920G> A (p.Trp307Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs80338921 5:148417939-148417939 5:149038376-149038376
19 SH3TC2 NM_024577.3(SH3TC2): c.28del (p.Glu10fs) deletion Conflicting interpretations of pathogenicity rs80338918 5:148442558-148442558 5:149062995-149062995
20 SH3TC2 NM_024577.3(SH3TC2): c.3326G> C (p.Arg1109Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs80338935 5:148389834-148389834 5:149010271-149010271
21 SH3TC2 NM_024577.3(SH3TC2): c.1982T> C (p.Leu661Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs80338927 5:148407313-148407313 5:149027750-149027750
22 SH3TC2 NM_024577.3(SH3TC2): c.217_227delinsCCAGTAA (p.Ala73fs) indel Conflicting interpretations of pathogenicity rs80338919 5:148427477-148427487 5:149047914-149047924
23 SH3TC2 NM_024577.3(SH3TC2): c.2642A> T (p.Asn881Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs80338930 5:148406653-148406653 5:149027090-149027090
24 SH3TC2 NM_024577.3(SH3TC2): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs80359890 5:148422281-148422281 5:149042718-149042718
25 SH3TC2 NM_024577.3(SH3TC2): c.1178-1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs80338922 5:148408118-148408118 5:149028555-149028555
26 SH3TC2 NM_024577.3(SH3TC2): c.3511C> T (p.Arg1171Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs759785462 5:148386608-148386608 5:149007045-149007045
27 SH3TC2 NM_024577.3(SH3TC2): c.530-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs80338920 5:148421182-148421182 5:149041619-149041619
28 SH3TC2 NM_024577.3(SH3TC2): c.2528G> T (p.Gly843Val) single nucleotide variant Uncertain significance rs1463859150 5:148406767-148406767 5:149027204-149027204
29 SH3TC2 NM_024577.3(SH3TC2): c.517C> A (p.Leu173Met) single nucleotide variant Uncertain significance rs147633804 5:148422269-148422269 5:149042706-149042706
30 SH3TC2 NM_024577.3(SH3TC2): c.2954A> G (p.Glu985Gly) single nucleotide variant Uncertain significance rs575937427 5:148406234-148406234 5:149026671-149026671

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

74
# 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 10.6 RAB11A CREB1
2 10.24 SOX10 CREB1

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 mitochondrial outer membrane GO:0005741 8.62 SOX10 GDAP1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.96 SOX10 CREB1
2 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 8.62 SOX10 CREB1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....