MCID: CRP017
MIFTS: 11

Carpal Tunnel Syndrome, Familial malady

Genetic diseases (common), Neuronal diseases categories

Summaries for Carpal Tunnel Syndrome, Familial

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MalaCards based summary: Carpal Tunnel Syndrome, Familial is related to familial osteochondritis dissecans, 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).

Description from OMIM:46 115430

Aliases & Classifications for Carpal Tunnel Syndrome, Familial

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Carpal Tunnel Syndrome, Familial, Aliases & Descriptions:

Name: Carpal Tunnel Syndrome, Familial 46


Classifications:

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


Related Diseases for Carpal Tunnel Syndrome, Familial

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Diseases in the Carpal Tunnel Syndrome family:

carpal tunnel syndrome, familial

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

idRelated DiseaseScoreTop Affiliating Genes
1familial osteochondritis dissecans10.3

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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Anatomical Context for Carpal Tunnel Syndrome, Familial

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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:

63
id Symbol AA change Variation ID SNP ID
1TTRp.Tyr134HisVAR_007598

Expression for genes affiliated with Carpal Tunnel Syndrome, Familial

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Expression patterns in normal tissues for genes affiliated with Carpal Tunnel Syndrome, Familial

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet