MCID: TBX001
MIFTS: 16

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 22
Heart and Hand Syndrome 22
 
Heart-Hand Syndrome 22
Holt-Oram Syndrome 65

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 type 3, 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, bone and breast.

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 type12.4
2heart-hand syndrome type 312.1
3heart-hand syndrome, spanish type12.1
4holt-oram syndrome11.7
5tabatznik syndrome11.5
6brachydactyly9.9
7baller-gerold syndrome9.8
8dilated cardiomyopathy9.8
9cardiomyopathy9.8

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 Syndrome22 TBX5

Anatomical Context for Tbx5-Related Holt-Oram Syndrome

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

33
Heart, Bone, Breast

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)single nucleotide variantPathogenicrs104894382GRCh37Chr 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet