MCID: CRP017
MIFTS: 37

Carpal Tunnel Syndrome, Familial

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Carpal Tunnel Syndrome, Familial

MalaCards integrated aliases 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 71 3
Thenar Amyotrophy of Crapal Origin 71
Carpal Tunnel Median Neuropathy 12
Median Neuropathy Carpal Tunnel 71
Cts - Carpal Tunnel Syndrome 12
Carpal Tunnel Syndrome 1 71
Median Nerve Entrapment 12
Cts1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


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 paresthesia, and has symptoms including peripheral neuropathy, constrictive median neuropathy and digital flexor tenosynovitis. An important gene associated with Carpal Tunnel Syndrome, Familial is TTR (Transthyretin). 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 : 71 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 168)
id Related Disease Score Top Affiliating Genes
1 mononeuropathy of the median nerve, mild 11.6
2 paresthesia 11.3
3 acromegaly 11.3
4 cumulative trauma disorders 11.3
5 macrodactyly of the hand 11.3
6 overuse syndrome 11.3
7 amyloidosis, hereditary, transthyretin-related 11.1
8 peripheral nervous system disease 10.9
9 pinched nerve 10.9
10 repetitive motion disorders 10.9
11 repetitive stress injuries 10.9
12 cerebritis 10.9
13 neuroblastoma 10.9
14 aspergillosis 10.9
15 hydrocephalus 10.9
16 histoplasmosis 10.9
17 swyer-james syndrome 10.9
18 pudendal neuralgia 10.9
19 brain cancer 10.8
20 cherubism 10.8
21 mounier-kuhn syndrome 10.8
22 sialadenitis 10.8
23 normal pressure hydrocephalus 10.8
24 subcortical arteriosclerotic encephalopathy 10.8
25 bile duct carcinoma 10.8
26 primary pigmented nodular adrenocortical disease 10.8
27 infantile myofibromatosis 10.8
28 papilledema 10.8
29 olivopontocerebellar atrophy 10.8
30 pineal cyst 10.8
31 binswanger's disease 10.8
32 adrenal cortical carcinoma 10.8
33 birt-hogg-dube syndrome 10.8
34 double inferior vena cava 10.8
35 benign focal amyotrophy 10.8
36 wilms tumor susceptibility-5 10.8
37 camptocormism 10.7
38 cor triatriatum sinister 10.7
39 gestational trophoblastic tumor 10.7
40 denture stomatitis 10.6 B2M TTR
41 tibial nerve palsy 10.5 B2M TTR
42 basal ganglia calcification, idiopathic, 1 10.5
43 arsacs 10.5
44 dementia - subcortical 10.5
45 spinocerebellar ataxia, autosomal recessive 2 10.5
46 amyotrophy, monomelic 10.5
47 hereditary paraganglioma-pheochromocytoma syndromes 10.5
48 hyperostosis frontalis interna 10.5
49 acute necrotizing encephalopathy 10.5
50 microphthalmia 10.5

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 via clinical synopsis from OMIM:

54

Neuro:
constrictive median neuropathy
tunnel sign

Misc:
responsive to pyridoxine administration
early onset age

Limbs:
thickened transverse carpal ligament
digital flexor tenosynovitis

Lab:
vitamin b6 deficiency


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 digital flexor tenosynovitis 32 HP:0012276
4 vitamin b6 deficiency 32 HP:0008326

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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 DIGItal Cohort Osteoarthritis Design Recruiting NCT01831570
2 Carpal Tunnel Syndrome and Amyloid Cardiomyopathy Active, not recruiting NCT02792790
3 A Randomized Trial Measuring the Effect of Decision Aids on Patients' Satisfaction, Conflict of Decision-making and Clinical Outcome Enrolling by invitation NCT01693094

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:

71
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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