CMT4C
MCID: CHR516
MIFTS: 39

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

Categories: Genetic diseases, Metabolic diseases, Muscle 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 58 30 13 6 41 74
Charcot-Marie-Tooth Disease Type 4c 12 25 54 60 15
Cmt4c 58 12 25 60 76
Charcot-Marie-Tooth Neuropathy Type 4c 12 25 76
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c 58 54
Charcot-Marie-Tooth Neuropathy, Type 4c 58 54
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4c 12
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4c 76
Charcot Marie Tooth Disease Type 4c 54
Charcot-Marie-Tooth Disease 4c 76
Cmt 4c 54

Characteristics:

Orphanet epidemiological data:

60
charcot-marie-tooth disease type 4c
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
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:

33
charcot-marie-tooth disease, type 4c:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110183
OMIM 58 601596
MeSH 45 D002607
ICD10 34 G60.0
MESH via Orphanet 46 C535423
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C1866636
Orphanet 60 ORPHA99949
MedGen 43 C1866636
UMLS 74 C1866636

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

UniProtKB/Swiss-Prot : 76 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 neuropathy, congenital hypomyelinating, 1, autosomal recessive 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 protease inhibitors and 4-des-dimethylaminotetracycline have been mentioned in the context of this disorder. Affiliated tissues include tongue, 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.

Description from OMIM: 601596
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 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, Type 4b3 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Type 4k 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
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:

# Related Disease Score Top Affiliating Genes
1 neuropathy, congenital hypomyelinating, 1, autosomal recessive 11.3
2 charcot-marie-tooth disease 11.1
3 tooth disease 11.1
4 mononeuropathy of the median nerve, mild 10.4
5 neuropathy 10.4
6 peripheral nervous system disease 10.1

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:

33 (show all 22)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 scoliosis 33 HP:0002650
3 facial palsy 33 HP:0010628
4 hearing impairment 33 HP:0000365
5 pes cavus 33 HP:0001761
6 decreased motor nerve conduction velocity 33 HP:0003431
7 motor delay 33 HP:0001270
8 difficulty walking 33 HP:0002355
9 upper limb muscle weakness 33 HP:0003484
10 distal muscle weakness 33 HP:0002460
11 distal amyotrophy 33 HP:0003693
12 distal sensory impairment 33 HP:0002936
13 tongue fasciculations 33 HP:0001308
14 tongue atrophy 33 HP:0012473
15 abnormal pupillary light reflex 33 HP:0007695
16 decreased number of large peripheral myelinated nerve fibers 33 HP:0003387
17 axonal degeneration 33 HP:0040078
18 abnormal cranial nerve morphology 33 HP:0001291
19 peripheral axonal degeneration 33 HP:0000764
20 basal lamina onion bulb formation 33 HP:0003400
21 prolonged brainstem auditory evoked potentials 33 HP:0004466
22 segmental peripheral demyelination 33 HP:0007107

Symptoms via clinical synopsis from OMIM:

58
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 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 fasciculations
tongue atrophy
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

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
protease inhibitors
2 4-des-dimethylaminotetracycline
3 Matrix Metalloproteinase Inhibitors
4 HIV Protease Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, 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 30 SH3TC2

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

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

42
Tongue

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

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

(show all 25)
# Title Authors Year
1
Dropped head syndrome as a manifestation of Charcot-Marie-Tooth disease type 4C. ( 30658898 )
2019
2
Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence. ( 30001926 )
2018
3
Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C. ( 30562927 )
2018
4
Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges. ( 28981955 )
2018
5
Clinical and Genetic Analysis of an Asian Indian Family with Charcot-Marie-Tooth Disease Type 4C. ( 29515423 )
2018
6
Audiological Findings in Charcot-Marie-Tooth Disease Type 4C. ( 28555600 )
2017
7
Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C. ( 27068304 )
2016
8
Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C. ( 27882734 )
2016
9
[Mutation analysis for a family affected with Charcot-Marie-Tooth disease type 4C]. ( 26829735 )
2016
10
First reported case of Charcot Marie Tooth disease type 4C in a child from India with SH3TC2 mutation but absent spinal deformities. ( 26053813 )
2015
11
Phenotypic variability of CMT4C in a French-Canadian kindred. ( 25737037 )
2015
12
Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2. ( 24833716 )
2014
13
Vestibular impairment in Charcot-Marie-Tooth disease type 4C. ( 24614092 )
2014
14
Charcot-Marie-Tooth disease type 4C in Japan: report of a case. ( 23281072 )
2013
15
Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C. ( 20028792 )
2010
16
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. ( 20220177 )
2010
17
Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway. ( 19744956 )
2009
18
The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. ( 19272779 )
2009
19
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. ( 18511281 )
2008
20
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. ( 17470135 )
2007
21
Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2. ( 16806930 )
2006
22
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. ( 16924012 )
2006
23
A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes. ( 16326826 )
2005
24
The kinesin superfamily protein Rab6KIFL is not involved in the pathophysiology of Charcot-Marie-Tooth disease type 4C. ( 12469216 )
2003
25
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. ( 14574644 )
2003

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

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

76
# 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

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

6 (show top 50) (show all 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 SH3TC2 NM_024577.3(SH3TC2): c.1586G> A (p.Arg529His) single nucleotide variant Pathogenic rs80338923 GRCh37 Chromosome 5, 148407709: 148407709
2 SH3TC2 NM_024577.3(SH3TC2): c.1586G> A (p.Arg529His) single nucleotide variant Pathogenic rs80338923 GRCh38 Chromosome 5, 149028146: 149028146
3 SH3TC2 NM_024577.3(SH3TC2): c.1747_1748delAG (p.Arg583Alafs) deletion Pathogenic rs80338924 GRCh37 Chromosome 5, 148407547: 148407548
4 SH3TC2 NM_024577.3(SH3TC2): c.1747_1748delAG (p.Arg583Alafs) deletion Pathogenic rs80338924 GRCh38 Chromosome 5, 149027984: 149027985
5 SH3TC2 NM_024577.3(SH3TC2): c.530-2A> G single nucleotide variant Pathogenic rs80338920 GRCh37 Chromosome 5, 148421182: 148421182
6 SH3TC2 NM_024577.3(SH3TC2): c.530-2A> G single nucleotide variant Pathogenic rs80338920 GRCh38 Chromosome 5, 149041619: 149041619
7 SH3TC2 NM_024577.3(SH3TC2): c.2829T> G (p.Tyr943Ter) single nucleotide variant Pathogenic rs80338932 GRCh37 Chromosome 5, 148406466: 148406466
8 SH3TC2 NM_024577.3(SH3TC2): c.2829T> G (p.Tyr943Ter) single nucleotide variant Pathogenic rs80338932 GRCh38 Chromosome 5, 149026903: 149026903
9 SH3TC2 NM_024577.3(SH3TC2): c.2860C> T (p.Arg954Ter) single nucleotide variant Pathogenic/Likely pathogenic rs80338933 GRCh37 Chromosome 5, 148406435: 148406435
10 SH3TC2 NM_024577.3(SH3TC2): c.2860C> T (p.Arg954Ter) single nucleotide variant Pathogenic/Likely pathogenic rs80338933 GRCh38 Chromosome 5, 149026872: 149026872
11 SH3TC2 NM_024577.3(SH3TC2): c.3325C> T (p.Arg1109Ter) single nucleotide variant Pathogenic rs80338934 GRCh37 Chromosome 5, 148389835: 148389835
12 SH3TC2 NM_024577.3(SH3TC2): c.3325C> T (p.Arg1109Ter) single nucleotide variant Pathogenic rs80338934 GRCh38 Chromosome 5, 149010272: 149010272
13 SH3TC2 NM_024577.3(SH3TC2): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs80359890 GRCh37 Chromosome 5, 148422281: 148422281
14 SH3TC2 NM_024577.3(SH3TC2): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs80359890 GRCh38 Chromosome 5, 149042718: 149042718
15 SH3TC2 NM_024577.3(SH3TC2): c.1178-1G> A single nucleotide variant Pathogenic rs80338922 GRCh37 Chromosome 5, 148408118: 148408118
16 SH3TC2 NM_024577.3(SH3TC2): c.1178-1G> A single nucleotide variant Pathogenic rs80338922 GRCh38 Chromosome 5, 149028555: 149028555
17 SH3TC2 NM_024577.3(SH3TC2): c.1969G> A (p.Glu657Lys) single nucleotide variant Pathogenic rs80338925 GRCh37 Chromosome 5, 148407326: 148407326
18 SH3TC2 NM_024577.3(SH3TC2): c.1969G> A (p.Glu657Lys) single nucleotide variant Pathogenic rs80338925 GRCh38 Chromosome 5, 149027763: 149027763
19 SH3TC2 NM_024577.3(SH3TC2): c.1972C> T (p.Arg658Cys) single nucleotide variant Likely pathogenic rs80338926 GRCh37 Chromosome 5, 148407323: 148407323
20 SH3TC2 NM_024577.3(SH3TC2): c.1972C> T (p.Arg658Cys) single nucleotide variant Likely pathogenic rs80338926 GRCh38 Chromosome 5, 149027760: 149027760
21 SH3TC2 NM_024577.3(SH3TC2): c.1982T> C (p.Leu661Pro) single nucleotide variant Pathogenic rs80338927 GRCh37 Chromosome 5, 148407313: 148407313
22 SH3TC2 NM_024577.3(SH3TC2): c.1982T> C (p.Leu661Pro) single nucleotide variant Pathogenic rs80338927 GRCh38 Chromosome 5, 149027750: 149027750
23 SH3TC2 NM_024577.3(SH3TC2): c.217_227delGCTGCTCGGAGinsCCAGTAA (p.Ala73Profs) indel Pathogenic rs80338919 GRCh37 Chromosome 5, 148427477: 148427487
24 SH3TC2 NM_024577.3(SH3TC2): c.217_227delGCTGCTCGGAGinsCCAGTAA (p.Ala73Profs) indel Pathogenic rs80338919 GRCh38 Chromosome 5, 149047914: 149047924
25 SH3TC2 NM_024577.3(SH3TC2): c.2191delG (p.Glu731Lysfs) deletion Pathogenic rs80338928 GRCh37 Chromosome 5, 148407104: 148407104
26 SH3TC2 NM_024577.3(SH3TC2): c.2191delG (p.Glu731Lysfs) deletion Pathogenic rs80338928 GRCh38 Chromosome 5, 149027541: 149027541
27 SH3TC2 NM_024577.3(SH3TC2): c.2491_2492delAG (p.Leu832Hisfs) deletion Pathogenic rs80338929 GRCh37 Chromosome 5, 148406803: 148406804
28 SH3TC2 NM_024577.3(SH3TC2): c.2491_2492delAG (p.Leu832Hisfs) deletion Pathogenic rs80338929 GRCh38 Chromosome 5, 149027240: 149027241
29 SH3TC2 NM_024577.3(SH3TC2): c.2642A> T (p.Asn881Ile) single nucleotide variant Pathogenic rs80338930 GRCh37 Chromosome 5, 148406653: 148406653
30 SH3TC2 NM_024577.3(SH3TC2): c.2642A> T (p.Asn881Ile) single nucleotide variant Pathogenic rs80338930 GRCh38 Chromosome 5, 149027090: 149027090
31 SH3TC2 NM_024577.3(SH3TC2): c.2710C> T (p.Arg904Ter) single nucleotide variant Pathogenic rs80338931 GRCh37 Chromosome 5, 148406585: 148406585
32 SH3TC2 NM_024577.3(SH3TC2): c.2710C> T (p.Arg904Ter) single nucleotide variant Pathogenic rs80338931 GRCh38 Chromosome 5, 149027022: 149027022
33 SH3TC2 NM_024577.3(SH3TC2): c.28delG (p.Glu10Serfs) deletion Pathogenic rs80338918 GRCh37 Chromosome 5, 148442558: 148442558
34 SH3TC2 NM_024577.3(SH3TC2): c.28delG (p.Glu10Serfs) deletion Pathogenic rs80338918 GRCh38 Chromosome 5, 149062995: 149062995
35 SH3TC2 NM_024577.3(SH3TC2): c.3326G> C (p.Arg1109Pro) single nucleotide variant Pathogenic rs80338935 GRCh37 Chromosome 5, 148389834: 148389834
36 SH3TC2 NM_024577.3(SH3TC2): c.3326G> C (p.Arg1109Pro) single nucleotide variant Pathogenic rs80338935 GRCh38 Chromosome 5, 149010271: 149010271
37 SH3TC2 NM_024577.3(SH3TC2): c.3341delC (p.Pro1114Leufs) deletion Pathogenic rs80338936 GRCh37 Chromosome 5, 148388551: 148388551
38 SH3TC2 NM_024577.3(SH3TC2): c.3341delC (p.Pro1114Leufs) deletion Pathogenic rs80338936 GRCh38 Chromosome 5, 149008988: 149008988
39 SH3TC2 NM_024577.3(SH3TC2): c.3601C> T (p.Gln1201Ter) single nucleotide variant Pathogenic rs80338937 GRCh37 Chromosome 5, 148386518: 148386518
40 SH3TC2 NM_024577.3(SH3TC2): c.3601C> T (p.Gln1201Ter) single nucleotide variant Pathogenic rs80338937 GRCh38 Chromosome 5, 149006955: 149006955
41 SH3TC2 NM_024577.3(SH3TC2): c.920G> A (p.Trp307Ter) single nucleotide variant Pathogenic rs80338921 GRCh37 Chromosome 5, 148417939: 148417939
42 SH3TC2 NM_024577.3(SH3TC2): c.920G> A (p.Trp307Ter) single nucleotide variant Pathogenic rs80338921 GRCh38 Chromosome 5, 149038376: 149038376
43 SH3TC2 NM_024577.3(SH3TC2): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs864309709 GRCh37 Chromosome 5, 148442585: 148442585
44 SH3TC2 NM_024577.3(SH3TC2): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs864309709 GRCh38 Chromosome 5, 149063022: 149063022
45 SH3TC2 NM_024577.3(SH3TC2): c.820_821insT (p.Lys274Ilefs) insertion Pathogenic rs879253859 GRCh38 Chromosome 5, 149038475: 149038476
46 SH3TC2 NM_024577.3(SH3TC2): c.820_821insT (p.Lys274Ilefs) insertion Pathogenic rs879253859 GRCh37 Chromosome 5, 148418038: 148418039
47 SH3TC2 NM_024577.3(SH3TC2): c.2954A> G (p.Glu985Gly) single nucleotide variant Uncertain significance rs575937427 GRCh38 Chromosome 5, 149026671: 149026671
48 SH3TC2 NM_024577.3(SH3TC2): c.2954A> G (p.Glu985Gly) single nucleotide variant Uncertain significance rs575937427 GRCh37 Chromosome 5, 148406234: 148406234
49 SH3TC2 NM_024577.3(SH3TC2): c.517C> A (p.Leu173Met) single nucleotide variant Uncertain significance rs147633804 GRCh38 Chromosome 5, 149042706: 149042706
50 SH3TC2 NM_024577.3(SH3TC2): c.517C> A (p.Leu173Met) single nucleotide variant Uncertain significance rs147633804 GRCh37 Chromosome 5, 148422269: 148422269

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 CREB1 RAB11A
2 10.24 CREB1 SOX10

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

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

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region DNA binding GO:0044212 9.26 CREB1 SOX10
2 microtubule binding GO:0008017 9.16 KIF2B RAB11A
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.96 CREB1 SOX10
4 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 8.62 CREB1 SOX10

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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