MCID: CRP017
MIFTS: 10

Carpal Tunnel Syndrome, Familial malady

Genetic category

Summaries for Carpal Tunnel Syndrome, Familial

Sources:
47OMIM, 33MalaCards
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MalaCards: Carpal Tunnel Syndrome, Familial is related to mass syndrome and familial osteochondritis dissecans. An important gene associated with Carpal Tunnel Syndrome, Familial is TTR (transthyretin).

Description from OMIM:47 115430

Aliases & Classifications for Carpal Tunnel Syndrome, Familial

Sources:
47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

carpal tunnel syndrome, familial 47


Related Diseases for Carpal Tunnel Syndrome, Familial

Sources:
17GeneCards, 18GeneDecks
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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
1mass syndrome10.2
2familial osteochondritis dissecans10.2

Clinical Features for Carpal Tunnel Syndrome, Familial

Sources:
47OMIM
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Clinical features from OMIM:

115430

Clinical synopsis from OMIM:

115430

Drugs & Therapeutics for Carpal Tunnel Syndrome, Familial

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Carpal Tunnel Syndrome, Familial

Drug clinical trials:

Search ClinicalTrials for Carpal Tunnel Syndrome, Familial

Search NIH Clinical Center for Carpal Tunnel Syndrome, Familial

Search CenterWatch for Carpal Tunnel Syndrome, Familial

Genetic Tests for Carpal Tunnel Syndrome, Familial

Anatomical Context for Carpal Tunnel Syndrome, Familial

Animal Models for Carpal Tunnel Syndrome, Familial or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Carpal Tunnel Syndrome, Familial

Sources:
51PubMed
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Articles related to Carpal Tunnel Syndrome, Familial:

idTitleAuthorsYear
1
Carpal tunnel syndrome as an initial manifestation in a case of transthyretin-related familial amyloid polyneuropathy with a novel A120T mutation. (22209138)
2012
2
Upper limb neuropathy such as carpal tunnel syndrome as an initial manifestation of ATTR Val30Met familial amyloid polyneuropathy. (20132088)
2010
3
The significance of carpal tunnel syndrome in transthyretin Val30Met familial amyloid polyneuropathy. (19626479)
2009
4
Familial carpal tunnel syndrome: further evidence for a genetic contribution. (16433699)
2006
5
Familial amyloid polyneuropathy in a Spanish family with a transthyretin deletion (deltaVal 122) presenting with carpal tunnel syndrome. (11140845)
2000
6
Is there a familial carpal tunnel syndrome? An evaluation and literature review. (9771681)
1998
7
Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant. (8309582)
1994
8
Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70. (1436517)
1992
9
Familial carpal and tarsal tunnel syndrome. (3734831)
1986
10
Familial osteochondritis dissecans and carpal tunnel syndrome. (532581)
1979

Genetic Variations for Carpal Tunnel Syndrome, Familial

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Carpal Tunnel Syndrome, Familial:

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

Expression for genes affiliated with Carpal Tunnel Syndrome, Familial

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Carpal Tunnel Syndrome, Familial

GO Terms for genes affiliated with Carpal Tunnel Syndrome, Familial

Products for genes affiliated with Carpal Tunnel Syndrome, Familial

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Carpal Tunnel Syndrome, Familial

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet