MCID: TRP006
MIFTS: 33

Tarp Syndrome malady

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

Aliases & Classifications for Tarp Syndrome

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 66UMLS, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Tarp Syndrome:

Name: Tarp Syndrome 50 46 23 52 68 12 66
Tarps 46 23 68 25
Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence of the Left Superior Vena Cava Syndrome 46 52
Pierre Robin Syndrome with Congenital Heart Malformation and Clubfoot 46 68
Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome 46 52
Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome 46 52
 
Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence of the Left Superior Vena Cava 46
Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, and Persistence of Left Superior Vena Cava 46
Talipes Equinovarus Atrial Septal Defect Robin Sequence and Persistence of Left Superior Vena Cava 68
Pierre Robin Sequence - Congenital Heart Defect - Talipes 46
Pierre Robin Syndrome - Congenital Heart Defect - Talipes 46

Characteristics:

HPO:

62
tarp syndrome:
Inheritance: x-linked inheritance


Classifications:



External Ids:

OMIM50 311900
Orphanet52 ORPHA2886
ICD10 via Orphanet29 Q87.8
MESH via Orphanet38 C536942
UMLS via Orphanet67 C1839463
MedGen35 C1839463
MeSH37 D003025

Summaries for Tarp Syndrome

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NIH Rare Diseases:46 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 glossoptosis, cleft palate and micrognathia. An important gene associated with Tarp Syndrome is RBM10 (RNA Binding Motif Protein 10). Affiliated tissues include heart, tongue and kidney.

UniProtKB/Swiss-Prot:68 TARP syndrome: A disorder characterized by the Robin sequence (micrognathia, glossoptosis and cleft palate), talipes equinovarus and cardiac defects.

Description from OMIM:50 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
4chlamydia10.0
5neuronitis10.0
6rheumatoid arthritis9.9
7respiratory syncytial virus infectious disease9.9
8influenza9.9
9hepatosplenic t-cell lymphoma9.9
10schizophrenia9.9

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

HPO human phenotypes related to Tarp Syndrome:

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

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
Proton pump inhibitors1057
Synonyms:
 
PPIs
2
Pantoprazole168102625-70-74679
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 (USAN/INN)
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
UNII-D8TST4O562
pantoprazole

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

Search NIH Clinical Center for Tarp Syndrome

Genetic Tests for Tarp Syndrome

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Genetic tests related to Tarp Syndrome:

id Genetic test Affiliating Genes
1 Tarp Syndrome25 23 RBM10

Anatomical Context for Tarp Syndrome

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MalaCards organs/tissues related to Tarp Syndrome:

34
Heart, Tongue, Kidney

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet