TARPS
MCID: TRP006
MIFTS: 28

Tarp Syndrome (TARPS) malady

Cardiovascular diseases, Fetal diseases categories

Summaries for Tarp Syndrome

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Sources:
42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Tarp syndrome is a rare condition affecting males that causes several birth defects. tarp stands for talipes equinovarus, atrial septal defect, robin sequence, and persistent left superior vena cava. those with tarp syndrome have clubfoot deformity (talipes equinovarus) and congenital heart defects involving failure of the upper heart chambers to close (atrial septal defect). the robin sequence (also known as pierre robin’s sequence) is characterized by a small lower jaw at birth that prevents proper feeding of the infant, followed by a retracted or displaced tongue. a high-arched, cleft soft palate is also commonly seen. affected individuals also have persistent left superior vena cava. tarp syndrome has been reported to cause death before birth or soon after birth. this condition is caused by mutations in the rbm10 gene and is inherited in an x-linked recessive fashion. last updated: 12/9/2013

MalaCards: Tarp Syndrome, also known as TARPS, is related to prostatitis and prostate cancer, and has symptoms including undescended/ectopic testes/cryptorchidia/unfixed testes, low set ears/posteriorly rotated ears and x-linked recessive inheritance. An important gene associated with Tarp Syndrome is RBM10 (RNA binding motif protein 10). Affiliated tissues include heart, tongue and testes.

Description from OMIM:46 311900

Aliases & Classifications for Tarp Syndrome

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Sources:
42NIH Rare Diseases, 46OMIM, 48Orphanet, 60UMLS, 20GeneTests, 22GTR, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Cardiovascular diseases


Aliases & Descriptions:

tarp syndrome 42 46 48 60
tarps 42 20 22
talipes equinovarus - atrial septal defect - robin sequence - persistence of the left superior vena cava 48
talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava 42
pierre robin syndrome with congenital heart malformation and clubfoot 42
pierre robin syndrome - congenital heart defect - talipes 48
pierre robin sequence - congenital heart defect - talipes 48


External Ids:

OMIM46 311900
MESH via Orphanet35 C536942
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C1839463

Related Diseases for Tarp Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Tarp Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1prostatitis10.5
2prostate cancer10.4
3breast cancer10.3
4leukemia10.2
5neuronitis10.1
6t-cell leukemia10.1
7lymphogranuloma venereum10.0
8lymphoblastic leukemia10.0

Graphical network of diseases related to Tarp Syndrome:



Diseases related to tarp syndrome

Clinical Features for Tarp Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

311900

Clinical synopsis from OMIM:

311900

Symptoms:

48 (show all 8)
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • low set ears/posteriorly rotated ears
  • x-linked recessive inheritance
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • atrial septal defect/interauricular communication
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • glossoptosis
  • micrognathia/retrognathia/micrognathism/retrognathism

Drugs & Therapeutics for Tarp Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Tarp Syndrome

Drug clinical trials:

Search ClinicalTrials for Tarp Syndrome

Search NIH Clinical Center for Tarp Syndrome

Search CenterWatch for Tarp Syndrome

Genetic Tests for Tarp Syndrome

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Tarp Syndrome:

id Genetic test Affiliating Genes
1 Tarp Syndrome20 22 RBM10

Anatomical Context for Tarp Syndrome

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Sources:
32MalaCards
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MalaCards organs/tissues related to Tarp Syndrome:

32
Heart, Tongue, Testes

Animal Models for Tarp Syndrome or affiliated genes

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Publications for Tarp Syndrome

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Genetic Variations for Tarp Syndrome

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Expression for genes affiliated with Tarp Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tarp Syndrome

Search GEO for disease gene expression data for Tarp Syndrome.

Pathways for genes affiliated with Tarp Syndrome

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Compounds for genes affiliated with Tarp Syndrome

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GO Terms for genes affiliated with Tarp Syndrome

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Products for genes affiliated with Tarp Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tarp Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet