TARPS
MCID: TRP006
MIFTS: 25

Tarp Syndrome (TARPS) malady

Cardiovascular, Fetal categories

Summaries for Tarp Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 t-cell leukemia and lymphogranuloma venereum, and has symptoms including micrognathia/retrognathia/micrognathism/retrognathism, glossoptosis and cleft palate without cleft lip/submucosal cleft palate/bifid uvula. An important gene associated with Tarp Syndrome is RBM10 (RNA binding motif protein 10). Affiliated tissues include heart and tongue.

Description from OMIM:47 311900

Aliases & Classifications for Tarp Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 49Orphanet, 61UMLS, 20GeneTests, 22GTR, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Aliases & Descriptions:

tarp syndrome 43 47 49 61
tarps 43 20 22
talipes equinovarus - atrial septal defect - robin sequence - persistence of the left superior vena cava 49
talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava 43
pierre robin syndrome with congenital heart malformation and clubfoot 43
pierre robin syndrome - congenital heart defect - talipes 49
pierre robin sequence - congenital heart defect - talipes 49


External Ids:

OMIM47 311900
MESH via Orphanet36 C536942
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet62 C1839463

Related Diseases for Tarp Syndrome

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
1t-cell leukemia10.2
2lymphogranuloma venereum10.0

Clinical Features for Tarp Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

311900

Clinical synopsis from OMIM:

311900

Symptoms:

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

Drugs & Therapeutics for Tarp Syndrome

Sources:
5CenterWatch, 42NIH 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

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Tarp Syndrome:

33
Heart, Tongue

Animal Models for Tarp Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Tarp Syndrome

Sources:
51PubMed
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Articles related to Tarp Syndrome:

idTitleAuthorsYear
1
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. (24259342)
2014
2
Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. (21910224)
2011
3
Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients. (12794682)
2003

Genetic Variations for Tarp Syndrome

Expression for genes affiliated with Tarp Syndrome

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

Compounds for genes affiliated with Tarp Syndrome

GO Terms for genes affiliated with Tarp Syndrome

Products for genes affiliated with Tarp Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tarp Syndrome

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