TARPS
MCID: TRP006
MIFTS: 31

Tarp Syndrome (TARPS) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal diseases categories

Summaries for Tarp Syndrome

About this section
Sources:
44NIH Rare Diseases, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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:48 311900

Aliases & Classifications for Tarp Syndrome

About this section
Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:



Aliases & Descriptions:

tarp syndrome 44 48 50 63
tarps 44 21 23
talipes equinovarus - atrial septal defect - robin sequence - persistence of the left superior vena cava 50
talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava 44
pierre robin syndrome with congenital heart malformation and clubfoot 44
pierre robin syndrome - congenital heart defect - talipes 50
pierre robin sequence - congenital heart defect - talipes 50


External Ids:

OMIM48 311900
MESH via Orphanet37 C536942
ICD10 via Orphanet27 Q87.8
UMLS via Orphanet64 C1839463

Related Diseases for Tarp Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

idRelated DiseaseScoreTop Affiliating Genes
1prostatitis10.5
2prostate cancer10.3
3neuronitis10.2
4breast cancer10.2

Symptoms for Tarp Syndrome

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

311900

Clinical features from OMIM:

311900

Symptoms:

50 (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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

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

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Tarp Syndrome:

id Genetic test Affiliating Genes
1 Tarp Syndrome21 23 RBM10

Anatomical Context for Tarp Syndrome

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Tarp Syndrome:

34
Heart, Tongue, Testes

Animal Models for Tarp Syndrome or affiliated genes

About this section

Publications for Tarp Syndrome

About this section
Sources:
53PubMed
See all sources

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

Variations for Tarp Syndrome

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Tarp Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1RBM10NM_005676.4(RBM10): c.1235G> A (p.Trp412Ter)single nucleotide variantPathogenicrs267607000GRCh37Chr X, 47039892: 47039892

Expression for genes affiliated with Tarp Syndrome

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Tarp Syndrome

About this section

GO Terms for genes affiliated with Tarp Syndrome

About this section

Products for genes affiliated with Tarp Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tarp Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet