MCID: TRP006
MIFTS: 34

Tarp Syndrome malady

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

Aliases & Classifications for Tarp Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Tarp Syndrome:

Name: Tarp Syndrome 49 11 45 22 51 67 65
Tarps 45 22 67 24
Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence of the Left Superior Vena Cava Syndrome 45 51
Pierre Robin Syndrome with Congenital Heart Malformation and Clubfoot 45 67
Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome 45 51
Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome 45 51
 
Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence of the Left Superior Vena Cava 45
Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, and Persistence of Left Superior Vena Cava 45
Talipes Equinovarus Atrial Septal Defect Robin Sequence and Persistence of Left Superior Vena Cava 67
Pierre Robin Sequence - Congenital Heart Defect - Talipes 45
Pierre Robin Syndrome - Congenital Heart Defect - Talipes 45

Characteristics:

HPO:

61
tarp syndrome:
Inheritance: x-linked inheritance


Classifications:



External Ids:

OMIM49 311900
Orphanet51 2886
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C536942
UMLS via Orphanet66 C1839463
MedGen34 C1839463
MeSH36 D003025
UMLS65 C1839463

Summaries for Tarp Syndrome

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NIH Rare Diseases:45 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: 5/16/2016

MalaCards based summary: Tarp Syndrome, also known as tarps, is related to prostate cancer and prostatitis, and has symptoms including arteriovenous malformation, atria septal defect and micrognathia. An important gene associated with Tarp Syndrome is RBM10 (RNA Binding Motif Protein 10). Affiliated tissues include heart, tongue and testes.

UniProtKB/Swiss-Prot:67 TARP syndrome: A disorder characterized by the Robin sequence (micrognathia, glossoptosis and cleft palate), talipes equinovarus and cardiac defects.

Description from OMIM:49 311900

Related Diseases for Tarp Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1prostate cancer10.7
2prostatitis10.3
3breast cancer10.0
4neuronitis10.0
5rheumatoid arthritis9.9
6respiratory syncytial virus infectious disease9.9
7influenza9.9
8hepatosplenic t-cell lymphoma9.9
9schizophrenia9.9
10chlamydia9.9

Graphical network of diseases related to Tarp Syndrome:



Diseases related to tarp syndrome

Symptoms for Tarp Syndrome

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Symptoms by clinical synopsis from OMIM:

311900

Clinical features from OMIM:

311900

Symptoms:

 51 (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

HPO human phenotypes related to Tarp Syndrome:

(show all 40)
id Description Frequency HPO Source Accession
1 arteriovenous malformation hallmark (90%) HP:0100026
2 atria septal defect hallmark (90%) HP:0001631
3 micrognathia hallmark (90%) HP:0000347
4 cleft palate hallmark (90%) HP:0000175
5 glossoptosis hallmark (90%) HP:0000162
6 low-set, posteriorly rotated ears typical (50%) HP:0000368
7 cryptorchidism typical (50%) HP:0000028
8 postaxial polydactyly rare (5%) HP:0100259
9 tetralogy of fallot rare (5%) HP:0001636
10 short sternum rare (5%) HP:0000879
11 optic atrophy rare (5%) HP:0000648
12 tongue nodules rare (5%) HP:0000199
13 clinodactyly HP:0030084
14 short palpebral fissure HP:0012745
15 cutaneous syndactyly HP:0012725
16 underdeveloped supraorbital ridges HP:0009891
17 microtia HP:0008551
18 deep palmar crease HP:0006191
19 hypoplasia of the radius HP:0002984
20 talipes equinovarus HP:0001762
21 intrauterine growth retardation HP:0001511
22 failure to thrive HP:0001508
23 cerebellar hypoplasia HP:0001321
24 cerebellar vermis hypoplasia HP:0001320
25 abnormality of the corpus callosum HP:0001273
26 global developmental delay HP:0001263
27 muscular hypotonia HP:0001252
28 single transverse palmar crease HP:0000954
29 anteverted nares HP:0000463
30 wide nasal bridge HP:0000431
31 prominent antihelix HP:0000395
32 low-set ears HP:0000369
33 posteriorly rotated ears HP:0000358
34 micrognathia HP:0000347
35 large fontanelles HP:0000239
36 high palate HP:0000218
37 cleft palate HP:0000175
38 glossoptosis HP:0000162
39 hydronephrosis HP:0000126
40 horseshoe kidney HP:0000085

Drugs & Therapeutics for Tarp Syndrome

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Drugs for Tarp Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Pantoprazoleapproved166102625-70-74679
Synonyms:
102625-70-7
5-(Difluoromethoxy)-2-(((3,4-dimethoxy-2-pyridyl)methyl)sulfinyl)benzimidazole
5-(difluoromethoxy)-2-{[(3,4-dimethoxypyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole
6-(difluoromethoxy)-2-[(3,4-dimethoxypyridin-2-yl)methylsulfinyl]-1H-benzimidazole
AC-679
AC1L1IPJ
Astropan
BIDD:GT0003
BRD-A22380646-001-01-5
BSPBio_002320
BY 1023
BY-1023
C11806
C16H15F2N3O4S
CHEBI:519598
CHEBI:7915
CHEMBL1502
CID4679
D05353
DB00213
HMS1922H20
HMS2090H03
HMS2093F14
HSDB 7292
I06-0068
LS-32883
MolPort-003-666-752
MolPort-005-933-577
NCGC00095188-01
NCGC00095188-02
NCGC00095188-03
 
Pantoloc
Pantopan
Pantoprazol
Pantoprazol [INN-Spanish]
Pantoprazole
Pantoprazole (USAN/INN)
Pantoprazole Magnesium
Pantoprazole Na
Pantoprazole Sodium
Pantoprazole Sodium Hydrate
Pantoprazole [USAN:BAN:INN]
Pantoprazole sodium
Pantoprazolum
Pantoprazolum [INN-Latin]
Pantoprozole
Pantor
Pantozol
Protium
Protonix
Protonix I.V.
Protonix IV
SBB070993
SK&F 96022
SK&F-96022
SK-96022
SKF-96022
SPECTRUM1505818
Somac
TL8000127
Tecta
UNII-D8TST4O562
pantoprazole
2
Proton pump inhibitors958
Synonyms:
 
PPIs
3Gastrointestinal Agents6401
4Anti-Ulcer Agents1453
5Antacids1453

Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy of Pantoprazole 20/40 mg Once Daily (od) in Patients Older Than 12 Years Who Have Gastrointestinal Symptoms of Reflux DiseaseCompletedNCT00829738

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Genetic Tests for Tarp Syndrome

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Genetic tests related to Tarp Syndrome:

id Genetic test Affiliating Genes
1 Tarp Syndrome22 RBM10

Anatomical Context for Tarp Syndrome

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MalaCards organs/tissues related to Tarp Syndrome:

33
Heart, Tongue, Testes, Kidney, Colon, Liver, T cells

Animal Models for Tarp Syndrome or affiliated genes

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Publications for Tarp Syndrome

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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

Variations for Tarp Syndrome

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Clinvar genetic disease variations for Tarp Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RBM10RBM10, 1-BP INS, 1893AinsertionPathogenic
2RBM10NM_005676.4(RBM10): c.1235G> A (p.Trp412Ter)single nucleotide variantPathogenicrs267607000GRCh37Chr X, 47039892: 47039892
3RBM10RBM10, GLN150TERsingle nucleotide variantPathogenic

Expression for genes affiliated with Tarp Syndrome

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Search GEO for disease gene expression data for Tarp Syndrome.

Pathways for genes affiliated with Tarp Syndrome

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GO Terms for genes affiliated with Tarp Syndrome

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Sources for Tarp 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