CTS2
MCID: CRP037
MIFTS: 21

Carpal Tunnel Syndrome 2 (CTS2)

Categories: Bone diseases, Genetic diseases, Muscle diseases, Neuronal diseases

Aliases & Classifications for Carpal Tunnel Syndrome 2

MalaCards integrated aliases for Carpal Tunnel Syndrome 2:

Name: Carpal Tunnel Syndrome 2 57 6
Cts2 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
age of onset between 20 and 30 years
symptoms exacerbated at night or by overuse or exercise


Classifications:



External Ids:

OMIM® 57 619161
OMIM Phenotypic Series 57 PS115430

Summaries for Carpal Tunnel Syndrome 2

OMIM® : 57 Carpal tunnel syndrome-2 (CTS2) is characterized by the relatively early onset of symptoms of median nerve compression in the wrist. Patients experience pain and numbness in the thumb, index, and middle fingers, correlating with the median nerve distribution in the hand. In addition to thickening of the tendons and ligaments of the wrist, thickening of other tendons has been observed (Li et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of carpal tunnel syndrome, see CTS1 (115430). (619161) (Updated 05-Apr-2021)

MalaCards based summary : Carpal Tunnel Syndrome 2, also known as cts2, is related to carpal tunnel syndrome. An important gene associated with Carpal Tunnel Syndrome 2 is COMP (Cartilage Oligomeric Matrix Protein). Affiliated tissues include hypothalamus.

Related Diseases for Carpal Tunnel Syndrome 2

Diseases in the Carpal Tunnel Syndrome family:

Carpal Tunnel Syndrome 2

Diseases related to Carpal Tunnel Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 carpal tunnel syndrome 10.0

Symptoms & Phenotypes for Carpal Tunnel Syndrome 2

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
thenar atrophy
soft connective tissue swelling/thickening in carpal tunnel
marked enlargement of transverse carpal ligaments
marked enlargement of flexor tendons
enlarged flexor pollicis longus tendon
more
Skin Nails Hair Skin:
digital necrosis (in some patients)
atrophic ulcers on fingers (in some patients)

Skeletal Hands:
reduced mobility of thumbs
reduced mobility of fifth digits

Neurologic Peripheral Nervous System:
median nerve compression in carpal tunnel
pain in thumb, index, and middle fingers
paresthesias in thumb, index, and middle fingers
numbness in thumb, index, and middle fingers
positive tinel sign
more
Skeletal Limbs:
reduced mobility of wrists
reduced mobility of ankles

Clinical features from OMIM®:

619161 (Updated 05-Apr-2021)

Drugs & Therapeutics for Carpal Tunnel Syndrome 2

Search Clinical Trials , NIH Clinical Center for Carpal Tunnel Syndrome 2

Genetic Tests for Carpal Tunnel Syndrome 2

Anatomical Context for Carpal Tunnel Syndrome 2

MalaCards organs/tissues related to Carpal Tunnel Syndrome 2:

40
Hypothalamus

Publications for Carpal Tunnel Syndrome 2

Articles related to Carpal Tunnel Syndrome 2:

(show top 50) (show all 122)
# Title Authors PMID Year
1
Mutations in COMP cause familial carpal tunnel syndrome. 6 57
32686688 2020
2
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. 6
14684695 2003
3
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. 6
12483304 2003
4
HTR6 and SSTR3 ciliary targeting relies on both IC3 loops and C-terminal tails. 61
33372037 2021
5
Intimate Partner Violence and Controlling Behavior Among Male Same-Sex Relationships in China: Relationship With Ambivalent Sexism. 61
29294885 2021
6
Animal Maltreatment as a Risk Marker of More Frequent and Severe Forms of Intimate Partner Violence. 61
29294833 2020
7
Diversification of fungal chitinases and their functional differentiation in Histoplasma capsulatum. 61
33185664 2020
8
The Role of Income on the Relationship Between the Brazilian Cash Transfer Program (Programa Bolsa Família) and Intimate Partner Violence: Evidence From a Multigroup Path Analysis. 61
32912044 2020
9
Psychometric Properties and Factor Analysis of a Short Form of the Multidimensional Measure of Emotional Abuse. 61
32962516 2020
10
The correlation between sexual dysfunction and intimate partner violence in young women during pregnancy. 61
32928215 2020
11
Proposal of an Architecture for Terminology Management in a Research Project. 61
32570664 2020
12
Intimate partner abuse among couples during pregnancy and its predictors as reported by pregnant women visiting governmental health care centres in Tabriz, Iran. 61
31434585 2020
13
Cognitive behavioural group therapy versus mindfulness-based stress reduction group therapy for intimate partner violence: a randomized controlled trial. 61
32306935 2020
14
Improvement of cis,cis-Muconic Acid Production in Saccharomyces cerevisiae through Biosensor-Aided Genome Engineering. 61
32058699 2020
15
Concordance of Reports of Intimate Partner Violence Across Partners and Measures: The Impact of Posttraumatic Stress Disorder. 61
32167376 2020
16
Validation of the scale for assessing the psychological vulnerability and its association with health of intimate partner violence victims in Chinese young adult population. 61
32628738 2020
17
Defining Critical Genes During Spherule Remodeling and Endospore Development in the Fungal Pathogen, Coccidioides posadasii. 61
32499817 2020
18
Physical Intimate Partner Violence and Controlling Behavior in Mexican University Students and Their Attitudes Toward Social Limits. 61
29291659 2020
19
Molecular Characterization of Giardia duodenalis and Enterocytozoon bieneusi Isolated from Tibetan Sheep and Tibetan Goats Under Natural Grazing Conditions in Tibet. 61
31442347 2020
20
Distinguishing Subtypes of Mutual Violence in the Context of Self-defense: Classifying Types of Partner Violent Couples using a Modified Conflict Tactics Scale. 61
31708605 2019
21
The Reliability and Factorial Validity of the Swedish Version of the Revised Controlling Behaviors Scale. 61
27738140 2019
22
Comparison of the CADRI and CTS2 for Measuring Psychological and Physical Dating Violence Perpetration and Victimization. 61
27760876 2019
23
The Reliability and Validity of the Dating Abuse Perpetration Acts Scale in an Urban, Emergency Department-Based Sample of Male and Female Youth. 61
27443413 2019
24
Predictors of sexual function in pregnant Iranian adolescents. 61
30807288 2019
25
Screening for Multiple Types of Family Violence: Development and Validation of the Family Polyvictimization Screen. 61
31632943 2019
26
Partner violence among drug-abusing women receiving behavioral couples therapy versus individually-based therapy. 61
30032937 2018
27
Does Childhood Psychological Abuse Contribute to Intimate Partner Violence Victimization? An Investigation Using the Childhood Experience of Care and Abuse Interview. 61
30136884 2018
28
Domestic and intimate partner violence among pregnant women in a low resource setting in South Africa: a facility-based, mixed methods study. 61
29973182 2018
29
Screening for Partner Violence Among Family Mediation Clients: Differentiating Types of Abuse. 61
26681786 2018
30
Validity of Single Question for Screening Intimate Partner Violence among Urban Latina Women. 61
28833482 2017
31
Prevalence of physical intimate partner violence in the first six months after childbirth in the city of Rio de Janeiro, Brazil. 61
28832785 2017
32
The Relationship Between Family, Parent, and Child Characteristics and Intimate-Partner Violence (IPV) Among Ukrainian Mothers. 61
29242754 2017
33
Bidirectional Intimate Partner Violence and Drug Use Among Homeless Youth. 61
26163542 2017
34
Evidence-Based Medicine: Current Evidence in the Diagnosis and Management of Carpal Tunnel Syndrome. 61
28654613 2017
35
The relationship between preoperative needle electromyography findings and muscle power restoration after surgery in severe carpal tunnel syndrome patients. 61
28325700 2017
36
A Scientific Answer to a Scientific Question: The Gender Debate on Intimate Partner Violence. 61
26223241 2017
37
Associations between PTSD and intimate partner and non-partner aggression among substance using veterans in specialty mental health. 61
27636157 2017
38
D2Refine: A Platform for Clinical Research Study Data Element Harmonization and Standardization. 61
28815140 2017
39
Intimate partner violence, common mental disorders and household food insecurity: an analysis using path analysis. 61
27211890 2016
40
Impact of Intimate Partner Violence on Primary Health Care Use for Children: Evidences from Rio de Janeiro, Brazil. 61
27324046 2016
41
Examining Intimate Partner Violence and Health Factors Among Rural Appalachian Pregnant Women. 61
25846757 2016
42
The association between intimate partner domestic violence and the food security status of poor families in Brazil. 61
26411418 2016
43
eHealth Terminology Management in Austria. 61
27577418 2016
44
Leveraging Terminology Services for Extract-Transform-Load Processes: A User-Centered Approach. 61
28269898 2016
45
Comparison of three combined sequencing batch reactor followed by enhanced Fenton process for an azo dye degradation: Bio-decolorization kinetics study. 61
26143197 2015
46
Vaccinia Virus B1 Kinase Is Required for Postreplicative Stages of the Viral Life Cycle in a BAF-Independent Manner in U2OS Cells. 61
26223647 2015
47
Patterns of domestic violence and alcohol consumption among women and the effectiveness of a brief intervention in a household setting: a protocol study. 61
26403827 2015
48
Capturing sexual violence experiences among battered women using the revised sexual experiences survey and the revised conflict tactics scales. 61
25119389 2015
49
Intimate partner violence and risky sexual behaviors among Iranian women with substance use disorders. 61
26034727 2015
50
Conditional inference trees: a method for predicting intimate partner violence. 61
25059494 2014

Variations for Carpal Tunnel Syndrome 2

ClinVar genetic disease variations for Carpal Tunnel Syndrome 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COMP NM_000095.3(COMP):c.2152C>T (p.Arg718Trp) SNV Pathogenic 9198 rs28936368 GRCh37: 19:18893939-18893939
GRCh38: 19:18783129-18783129
2 COMP NM_000095.3(COMP):c.197T>A (p.Val66Glu) SNV Pathogenic 995411 GRCh37: 19:18901391-18901391
GRCh38: 19:18790582-18790582

Expression for Carpal Tunnel Syndrome 2

Search GEO for disease gene expression data for Carpal Tunnel Syndrome 2.

Pathways for Carpal Tunnel Syndrome 2

GO Terms for Carpal Tunnel Syndrome 2

Sources for Carpal Tunnel Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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