MCID: TBX001
MIFTS: 12

Tbx5-Related Holt-Oram Syndrome malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Tbx5-Related Holt-Oram Syndrome

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Aliases & Descriptions for Tbx5-Related Holt-Oram Syndrome:

Name: Tbx5-Related Holt-Oram Syndrome 24
Heart and Hand Syndrome 24
 
Heart-Hand Syndrome 24
Holt-Oram Syndrome 67

Classifications:



Summaries for Tbx5-Related Holt-Oram Syndrome

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MalaCards based summary: Tbx5-Related Holt-Oram Syndrome, also known as heart and hand syndrome, is related to heart-hand syndrome, slovenian type and heart-hand syndrome, spanish type, and has symptoms including cardiac dyskinesia An important gene associated with Tbx5-Related Holt-Oram Syndrome is TBX5 (T-Box 5). Affiliated tissues include heart.

Related Diseases for Tbx5-Related Holt-Oram Syndrome

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Diseases in the Holt-Oram Syndrome family:

tbx5-related holt-oram syndrome Sall4-Related Holt-Oram Syndrome

Diseases related to Tbx5-Related Holt-Oram Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1heart-hand syndrome, slovenian type12.3
2heart-hand syndrome, spanish type12.1
3holt-oram syndrome11.6
4tabatznik syndrome11.4
5brachydactyly9.9
6cardiomyopathy9.8
7baller-gerold syndrome9.7
8dilated cardiomyopathy9.7

Graphical network of diseases related to Tbx5-Related Holt-Oram Syndrome:



Diseases related to tbx5-related holt-oram syndrome

Symptoms for Tbx5-Related Holt-Oram Syndrome

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UMLS symptoms related to Tbx5-Related Holt-Oram Syndrome:


cardiac dyskinesia

Drugs & Therapeutics for Tbx5-Related Holt-Oram Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Tbx5-Related Holt-Oram Syndrome

Genetic Tests for Tbx5-Related Holt-Oram Syndrome

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Genetic tests related to Tbx5-Related Holt-Oram Syndrome:

id Genetic test Affiliating Genes
1 Tbx5-Related Holt-Oram Syndrome24 TBX5

Anatomical Context for Tbx5-Related Holt-Oram Syndrome

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MalaCards organs/tissues related to Tbx5-Related Holt-Oram Syndrome:

35
Heart

Animal Models for Tbx5-Related Holt-Oram Syndrome or affiliated genes

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Publications for Tbx5-Related Holt-Oram Syndrome

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Variations for Tbx5-Related Holt-Oram Syndrome

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Clinvar genetic disease variations for Tbx5-Related Holt-Oram Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TBX5NM_000192.3(TBX5): c.709C> T (p.Arg237Trp)SNVPathogenicrs104894382GRCh37Chr 12, 114823327: 114823327

Expression for genes affiliated with Tbx5-Related Holt-Oram Syndrome

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Search GEO for disease gene expression data for Tbx5-Related Holt-Oram Syndrome.

Pathways for genes affiliated with Tbx5-Related Holt-Oram Syndrome

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GO Terms for genes affiliated with Tbx5-Related Holt-Oram Syndrome

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Sources for Tbx5-Related Holt-Oram Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet