CTS1
MCID: CRP017
MIFTS: 43

Carpal Tunnel Syndrome, Familial (CTS1) malady

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Carpal Tunnel Syndrome, Familial

Aliases & Descriptions for Carpal Tunnel Syndrome, Familial:

Name: Carpal Tunnel Syndrome, Familial 54 13
Carpal Tunnel Syndrome 12 51 29 52 41 3 42 14 69
Cts 66 3
Thenar Amyotrophy of Crapal Origin 66
Carpal Tunnel Median Neuropathy 12
Median Neuropathy Carpal Tunnel 66
Cts - Carpal Tunnel Syndrome 12
Carpal Tunnel Syndrome 1 66
Median Nerve Entrapment 12
Cts1 66

Characteristics:

HPO:

32
carpal tunnel syndrome, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 115430
Disease Ontology 12 DOID:12169
ICD10 33 G56.0 G56.00
ICD9CM 35 354.0
MeSH 42 D002349
NCIt 47 C34450
MedGen 40 C0007286
UMLS 69 C0007286

Summaries for Carpal Tunnel Syndrome, Familial

MedlinePlus : 41 you're working at your desk, trying to ignore the tingling or numbness you've had for some time in your hand and wrist. suddenly, a sharp, piercing pain shoots through the wrist and up your arm. just a passing cramp? it could be carpal tunnel syndrome. the carpal tunnel is a narrow passageway of ligament and bones at the base of your hand. it contains nerve and tendons. sometimes, thickening from irritated tendons or other swelling narrows the tunnel and causes the nerve to be compressed. symptoms usually start gradually. as they worsen, grasping objects can become difficult. often, the cause is having a smaller carpal tunnel than other people do. other causes include performing assembly line work, wrist injury, or swelling due to certain diseases, such as rheumatoid arthritis. women are three times more likely to have carpal tunnel syndrome than men. early diagnosis and treatment are important to prevent permanent nerve damage. your doctor diagnoses carpal tunnel syndrome with a physical exam and special nerve tests. treatment includes resting your hand, splints, pain and anti-inflammatory medicines, and sometimes surgery. nih: national institute of neurological disorders and stroke

MalaCards based summary : Carpal Tunnel Syndrome, Familial, also known as carpal tunnel syndrome, is related to mononeuropathy of the median nerve, mild and acromegaly, and has symptoms including peripheral neuropathy, constrictive median neuropathy and vitamin b6 deficiency. An important gene associated with Carpal Tunnel Syndrome, Familial is TTR (Transthyretin). The drugs Methylprednisolone and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and thyroid.

CDC : 3 Ergonomics includes the scientific study of people at work. The goal of ergonomics is to reduce stress and eliminate injuries and disorders associated with the overuse of soft tissues e.g., muscles or tendons, awkward posture, and repeated tasks. This is accomplished by designing tasks, work spaces, controls, displays, tools, lighting, and equipment to fit the employee´s physical capabilities and limitations.

NINDS : 51 Carpal tunnel syndrome (CTS) occurs when  the median nerve, which runs from the forearm into the palm of the hand,  becomes pressed or squeezed at the wrist. The carpal tunnel is a narrow, rigid passageway of ligament and bones at the base of the hand that houses the median nerve and the tendons that bend the fingers. The median nerve provides feeling to the palm side of the thumb and to most of the fingers. Symptoms usually start gradually, with numbness, tingling, weakness, and sometimes pain in the hand and wrist.  CTS makes it difficult for some people to drive, read a book, grasp small objects, or do other tasks. Sometines no direct cause of CTS can be found; contributing factors include trauma or injury to the wrist that causes swelling, as well as thyroid disease, rheumatoid arthritis, and fluid retention during pregnancy. Women are three times more likely than men to develop carpal tunnel syndrome. The disorder usually occurs only in adults.

UniProtKB/Swiss-Prot : 66 Carpal tunnel syndrome 1: A condition characterized by entrapment of the median nerve within the carpal tunnel. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. This condition may be associated with repetitive occupational trauma, wrist injuries, amyloid neuropathies, rheumatoid arthritis.

Description from OMIM: 115430

Related Diseases for Carpal Tunnel Syndrome, Familial

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

(show top 50) (show all 150)
id Related Disease Score Top Affiliating Genes
1 mononeuropathy of the median nerve, mild 11.7
2 acromegaly 11.3
3 cumulative trauma disorders 11.3
4 macrodactyly of the hand 11.3
5 overuse syndrome 11.3
6 amyloidosis, hereditary, transthyretin-related 11.1
7 cerebritis 11.0
8 pinched nerve 11.0
9 repetitive motion disorders 11.0
10 repetitive stress injuries 11.0
11 peripheral nervous system disease 11.0
12 neuroblastoma 10.9
13 aspergillosis 10.9
14 hydrocephalus 10.9
15 histoplasmosis 10.9
16 swyer-james syndrome 10.9
17 pudendal neuralgia 10.9
18 cherubism 10.9
19 brain cancer 10.9
20 sialadenitis 10.9
21 mounier-kuhn syndrome 10.9
22 subcortical arteriosclerotic encephalopathy 10.9
23 benign focal amyotrophy 10.9
24 double inferior vena cava 10.9
25 adrenal cortical carcinoma 10.9
26 birt-hogg-dube syndrome 10.9
27 pineal cyst 10.9
28 papilledema 10.9
29 binswanger's disease 10.9
30 camptocormism 10.7
31 cor triatriatum sinister 10.7
32 amyotrophy, monomelic 10.6
33 basal ganglia calcification, idiopathic, 1 10.6
34 dementia - subcortical 10.6
35 fallopian tube carcinoma 10.6
36 pulmonary venoocclusive disease 2 10.6
37 o'sullivan-mcleod syndrome 10.6
38 median arcuate ligament syndrome 10.6
39 pulmonary venoocclusive disease 1 10.6
40 acute necrotizing encephalopathy 10.6
41 undifferentiated connective tissue disease 10.6
42 combined pulmonary fibrosis-emphysema syndrome 10.6
43 neuropathy 10.4
44 polyneuropathy 10.4
45 ulnar neuropathy 10.3
46 amyloidosis 10.2
47 choriodal dystrophy, central areolar 2 10.2 B2M TTR
48 bacteriuria 10.2 B2M TTR
49 cervicitis 10.2
50 hereditary lymphedema type ii 10.2 B2M TTR

Graphical network of the top 20 diseases related to Carpal Tunnel Syndrome, Familial:



Diseases related to Carpal Tunnel Syndrome, Familial

Symptoms & Phenotypes for Carpal Tunnel Syndrome, Familial

Symptoms by clinical synopsis from OMIM:

115430

Clinical features from OMIM:

115430

Human phenotypes related to Carpal Tunnel Syndrome, Familial:

32
id Description HPO Frequency HPO Source Accession
1 peripheral neuropathy 32 HP:0009830
2 constrictive median neuropathy 32 HP:0012185
3 vitamin b6 deficiency 32 HP:0008326
4 digital flexor tenosynovitis 32 HP:0012276

UMLS symptoms related to Carpal Tunnel Syndrome, Familial:


back pain, headache, muscle cramp, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness

Drugs & Therapeutics for Carpal Tunnel Syndrome, Familial

Drugs for Carpal Tunnel Syndrome, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 152)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 83-43-2 6741
2
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
3
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
4
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3 137-58-6 3676
5
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
6
Acetaminophen Approved Phase 4,Phase 2 103-90-2 1983
7
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
8
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
9
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
10
Guaifenesin Approved, Vet_approved Phase 4 93-14-1 3516
11
Hydrocodone Approved, Illicit Phase 4 125-29-1 5284569
12
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
13
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 2 76-42-6 5284603
14
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
15
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
16 Antiemetics Phase 4,Phase 2,Phase 3
17 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
18 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3
19 Autonomic Agents Phase 4,Phase 2,Phase 3
20 Gastrointestinal Agents Phase 4,Phase 2,Phase 3
21 glucocorticoids Phase 4,Phase 3,Phase 2
22 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
23 Hormones Phase 4,Phase 3,Phase 2,Phase 1
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
25 Methylprednisolone acetate Phase 4,Phase 2,Phase 3
26 Methylprednisolone Hemisuccinate Phase 4,Phase 2,Phase 3
27 Neuroprotective Agents Phase 4,Phase 2,Phase 3
28 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
29 Prednisolone acetate Phase 4,Phase 2,Phase 3
30 Prednisolone hemisuccinate Phase 4,Phase 2,Phase 3
31 Prednisolone phosphate Phase 4,Phase 2,Phase 3
32 Protective Agents Phase 4,Phase 2,Phase 3
33 Anesthetics Phase 4,Phase 2,Phase 3
34 Anesthetics, Local Phase 4,Phase 2,Phase 3
35 Central Nervous System Depressants Phase 4,Phase 3,Phase 2
36 Analgesics Phase 4,Phase 3,Phase 2
37 Analgesics, Non-Narcotic Phase 4,Phase 2
38 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3
39 Diuretics, Potassium Sparing Phase 4,Phase 2,Phase 3
40 Sodium Channel Blockers Phase 4,Phase 2,Phase 3
41 Anticonvulsants Phase 4,Phase 3
42 Antimanic Agents Phase 4,Phase 3
43 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
44 Psychotropic Drugs Phase 4,Phase 3,Phase 2
45 Tranquilizing Agents Phase 4,Phase 3,Phase 2
46 Respiratory System Agents Phase 4,Phase 3
47 Retinol palmitate Phase 4
48 Antioxidants Phase 4,Phase 2
49 Micronutrients Phase 4,Phase 2,Phase 3
50 Thioctic Acid Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 162)
id Name Status NCT ID Phase
1 Efficacy Study of Local Steroid Injection and Wrist Splinting for Carpal Tunnel Syndrome Completed NCT02140632 Phase 4
2 Length of Post Operative Dressing After Carpal Tunnel Release Completed NCT01310218 Phase 4
3 Postoperative Alpha Lipoic Acid in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
4 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome Completed NCT00277563 Phase 4
5 Patient Controlled Regional Analgesia Following Carpal Tunnel Release: A Double-Blind Study Using Distal Perineural Catheters Completed NCT00678314 Phase 4
6 Pain Outcomes of Intra-operative IV Tylenol and/or IV Toradol for Carpal Tunnel and Distal Radius Fracture Surgeries Completed NCT02313675 Phase 4
7 Bupivacaine Versus Lidocaine Local Anesthesia Completed NCT01751347 Phase 4
8 Distribution Circumferential Versus Non Circumferential of Mepivacaine in the Median and Ulnar Nerves Completed NCT01603680 Phase 4
9 A Study Of Lidocaine Patch 5% Alone, Gabapentin Alone, And Lidocaine Patch 5% And Gabapentin In Combination For The Relief Of Pain In Patients With Diverse Peripheral Neuropathic Pain Conditions Completed NCT00904202 Phase 4
10 A Post Marketing Surveillance Study for NutropinAq® in Adults With Growth Hormone Deficiency Completed NCT00455884 Phase 4
11 Narcotic vs. Non-narcotic Pain Study Protocol Recruiting NCT01974609 Phase 4
12 Injection Versus Splinting in Carpal Tunnel Syndrome Active, not recruiting NCT02038452 Phase 4
13 Local Steroid Injection vs Placebo in Carpal Tunnel Syndrome Enrolling by invitation NCT02652390 Phase 4
14 Post-operative Analgesia in Elective, Soft-tissue Hand Surgery Enrolling by invitation NCT02029235 Phase 4
15 Patient Satisfaction With Pain Relief After Ambulatory Hand Surgery Terminated NCT01588158 Phase 4
16 Carpal Tunnel Syndrome Release Using PSU Retractor Unknown status NCT01017471 Phase 3
17 Sonography-guided Steroid Injection for Carpal Tunnel Syndrome Completed NCT02575729 Phase 3
18 Gabapentin for Carpal Tunnel Syndrome Completed NCT00137735 Phase 3
19 Steroid Injection Treatment of Carpal Tunnel Syndrome Completed NCT00806871 Phase 2, Phase 3
20 Preoperative Gabapentine for Carpal Tunnel Completed NCT01632215 Phase 3
21 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome Recruiting NCT02141035 Phase 2, Phase 3
22 Assessment of the Effectiveness of Ultrasound-guided Acupuncture in the Management of Carpal Tunnel Syndrome Not yet recruiting NCT02870673 Phase 2, Phase 3
23 Safety and Efficacy of Lidoderm (Lidocaine Patch 5%) in Treating Moderate to Severe Pain Associated With Carpal Tunnel Syndrome Terminated NCT00266214 Phase 3
24 NeuroPath Comparative Validation Study Plan Terminated NCT00393549 Phase 3
25 A Study of AQUAVAN® Injection in the Presence of Pre-Medication in Patients Undergoing Minor Surgical Procedures Terminated NCT00209560 Phase 3
26 Carpal Tunnel Syndrome and Static Magnetic Field Therapy Unknown status NCT00521495 Phase 2
27 Patient Outcomes With Endoscopic Versus Open Carpal Tunnel Release Unknown status NCT00880295 Phase 2
28 Carpal Tunnel Syndrome Treated With 830nm Diode Laser Unknown status NCT00514462 Phase 1, Phase 2
29 Minocycline to Reduce Pain After Carpal Tunnel Release Unknown status NCT02051296 Phase 2
30 Alpha Lipoic Acid on Clinical and Electrophysiological Recovery in Carpal Tunnel Syndrome Undergoing Surgical Release Completed NCT02382328 Phase 2
31 The Treatment of the Median Nerve for the Elimination of the Symptoms Associated With the Carpal Tunnel Syndrome Completed NCT00634738 Phase 1, Phase 2
32 Fascial Manipulation on the Treatment of Carpal Tunnel Syndrome Completed NCT02495298 Phase 2
33 Open-Label Study Evaluating Synera® in the Treatment of Patients With Carpal Tunnel Syndrome Completed NCT00991068 Phase 2
34 Treatment Efficacy of OMT for Carpal Tunnel Syndrome Completed NCT00394043 Phase 2
35 Percutaneous Treatment of Carpal Tunnel Syndrome With Scan Completed NCT02514317 Phase 2
36 Efficacy of the Interferential Laser Therapy in Pain Reduction in Carpal Tunnel Syndrome Completed NCT01093209 Phase 2
37 Acupuncture for Carpal Tunnel Syndrome Completed NCT00000394 Phase 2
38 The Treatment of Carpal Tunnel Syndrome Using Thumb Pressure Along the Median Nerve Completed NCT00634699 Phase 1, Phase 2
39 Mechanisms of Neural Mobilization in the Treatment of Chronic Pain Completed NCT00929123 Phase 1, Phase 2
40 Acute Human Study: StimRouter for Peripheral Nerve Stimulation of Discrete Peripheral Nerves Completed NCT00665132 Phase 1, Phase 2
41 Sham Device, Pill Placebo or Treatment For Arm Pain Completed NCT00029497 Phase 2
42 Effect of Kinesiotaping for the Treatment of Hormone-induced Myalgia in Women Given Breast Cancer Survivors Completed NCT02406794 Phase 1, Phase 2
43 Influence of Pronator Teres Release on Treatment of Median Nerve Compression Neuropathy Recruiting NCT01562860 Phase 2
44 Botulinum Toxin for Carpal Tunnel Syndrome Active, not recruiting NCT00701233 Phase 2
45 BOTOX® (Onabotulinumtoxin A) Injection(s) as a Treatment for Carpal Tunnel Syndrome Active, not recruiting NCT02070302 Phase 2
46 Ibuprofen Plus Acetaminophen Versus Oxycodone Alone After Hand Surgery Not yet recruiting NCT03111186 Phase 2
47 Single-portal Endoscopic Carpal Tunnel Release Versus Knifelight for Carpal Tunnel Syndrome. A Randomized Control Trial Withdrawn NCT01756820 Phase 2
48 Hyaluronic Acid Hydro-dissection Use in Idiopathic Carpal Tunnel Syndrome Guided by Ultrasonic Study Not yet recruiting NCT03180125 Phase 1
49 Scalpel Versus Electrocautery for Surgical Skin Incision in Open Carpal Tunnel Release Not yet recruiting NCT02791529 Phase 1
50 Stiffness of the Skin and Joints in Relation to Carpal Tunnel Syndrome Unknown status NCT01081860

Search NIH Clinical Center for Carpal Tunnel Syndrome, Familial

Cochrane evidence based reviews: carpal tunnel syndrome

Genetic Tests for Carpal Tunnel Syndrome, Familial

Genetic tests related to Carpal Tunnel Syndrome, Familial:

id Genetic test Affiliating Genes
1 Carpal Tunnel Syndrome 29

Anatomical Context for Carpal Tunnel Syndrome, Familial

MalaCards organs/tissues related to Carpal Tunnel Syndrome, Familial:

39
Bone, Testes, Thyroid

Publications for Carpal Tunnel Syndrome, Familial

Variations for Carpal Tunnel Syndrome, Familial

UniProtKB/Swiss-Prot genetic disease variations for Carpal Tunnel Syndrome, Familial:

66
id Symbol AA change Variation ID SNP ID
1 TTR p.Tyr134His VAR_007598 rs121918088

ClinVar genetic disease variations for Carpal Tunnel Syndrome, Familial:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TTR NM_000371.3(TTR): c.400T> C (p.Tyr134His) single nucleotide variant Pathogenic rs121918088 GRCh37 Chromosome 18, 29178594: 29178594

Expression for Carpal Tunnel Syndrome, Familial

Search GEO for disease gene expression data for Carpal Tunnel Syndrome, Familial.

Pathways for Carpal Tunnel Syndrome, Familial

GO Terms for Carpal Tunnel Syndrome, Familial

Biological processes related to Carpal Tunnel Syndrome, Familial according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron projection development GO:0010977 8.62 B2M PMP22

Sources for Carpal Tunnel Syndrome, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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