MCID: CRP017
MIFTS: 29

Carpal Tunnel Syndrome, Familial malady

Genetic diseases (common), Neuronal diseases categories

Summaries for Carpal Tunnel Syndrome, Familial

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MedlinePlus:32 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 neuropathy and polyneuropathy, and has symptoms including autosomal dominant inheritance, vitamin b6 deficiency and peripheral neuropathy. An important gene associated with Carpal Tunnel Syndrome, Familial is TTR (transthyretin). Affiliated tissues include bone and testes.

CDC:3 Ergonomics is 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 muscles, bad 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:42

Description from OMIM:45 115430

Aliases & Classifications for Carpal Tunnel Syndrome, Familial

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Sources:
45OMIM, 10diseasecard, 9Disease Ontology, 42NINDS, 11DISEASES, 43Novoseek, 22GTR, 32MedlinePlus, 3CDC, 60UMLS, 38NCIt, 33MeSH, 27ICD9CM, 55SNOMED-CT, 25ICD10
See all sources

Carpal Tunnel Syndrome, Familial, Aliases & Descriptions:

Name: Carpal Tunnel Syndrome, Familial 45 10
Carpal Tunnel Syndrome 45 9 42 11 43 22 32 3 60
Carpal Tunnel Median Neuropathy 9
 
Cts - Carpal Tunnel Syndrome 9
Median Nerve Entrapment 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Neuronal diseases


External Ids:

OMIM45 115430
Disease Ontology9 DOID:12169
NCIt38 C34450
MeSH33 D002349
ICD9CM27 354.0
ICD1025 G56.0

Related Diseases for Carpal Tunnel Syndrome, Familial

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



Diseases related to carpal tunnel syndrome, familial

Symptoms for Carpal Tunnel Syndrome, Familial

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Symptoms by clinical synopsis from OMIM:

115430

Clinical features from OMIM:

115430

HPO human phenotypes related to Carpal Tunnel Syndrome, Familial:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 vitamin b6 deficiency HP:0008326
3 peripheral neuropathy HP:0009830
4 constrictive median neuropathy HP:0012185
5 digital flexor tenosynovitis HP:0012276

Drugs & Therapeutics for Carpal Tunnel Syndrome, Familial

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Drug clinical trials:

Search ClinicalTrials for Carpal Tunnel Syndrome, Familial

Search NIH Clinical Center for Carpal Tunnel Syndrome, Familial

Genetic Tests for Carpal Tunnel Syndrome, Familial

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Genetic tests related to Carpal Tunnel Syndrome, Familial:

id Genetic test Affiliating Genes
1 Carpal Tunnel Syndrome22

Anatomical Context for Carpal Tunnel Syndrome, Familial

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

31
Bone, Testes

Animal Models for Carpal Tunnel Syndrome, Familial or affiliated genes

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Publications for Carpal Tunnel Syndrome, Familial

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Variations for Carpal Tunnel Syndrome, Familial

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

62
id Symbol AA change Variation ID SNP ID
1TTRp.Tyr134HisVAR_007598

Expression for genes affiliated with Carpal Tunnel Syndrome, Familial

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

Pathways for genes affiliated with Carpal Tunnel Syndrome, Familial

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Compounds for genes affiliated with Carpal Tunnel Syndrome, Familial

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GO Terms for genes affiliated with Carpal Tunnel Syndrome, Familial

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Products for genes affiliated with Carpal Tunnel Syndrome, Familial

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Carpal Tunnel Syndrome, Familial

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet