TARPS
MCID: TRP006
MIFTS: 32

Tarp Syndrome (TARPS) malady

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

Aliases & Classifications for Tarp Syndrome

Aliases & Descriptions for Tarp Syndrome:

Name: Tarp Syndrome 54 50 24 56 66 13 69
Tarps 50 24 66 29
Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence of the Left Superior Vena Cava Syndrome 50 56
Pierre Robin Syndrome with Congenital Heart Malformation and Clubfoot 50 66
Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome 50 56
Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome 50 56
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 50
Talipes Equinovarus Atrial Septal Defect Robin Sequence and Persistence of Left Superior Vena Cava 66
Pierre Robin Sequence - Congenital Heart Defect - Talipes 50
Pierre Robin Syndrome - Congenital Heart Defect - Talipes 50

Characteristics:

HPO:

32

Classifications:



External Ids:

OMIM 54 311900
Orphanet 56 ORPHA2886
MESH via Orphanet 43 C536942
UMLS via Orphanet 70 C1839463
ICD10 via Orphanet 34 Q87.8
MedGen 40 C1839463
MeSH 42 D003025

Summaries for Tarp Syndrome

NIH Rare Diseases : 50 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 low-set ears, clinodactyly and high palate. An important gene associated with Tarp Syndrome is RBM10 (RNA Binding Motif Protein 10). The drugs Pantoprazole and Proton pump inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart, tongue and kidney.

UniProtKB/Swiss-Prot : 66 TARP syndrome: A disorder characterized by the Robin sequence (micrognathia, glossoptosis and cleft palate), talipes equinovarus and cardiac defects.

Description from OMIM: 311900

Related Diseases for Tarp Syndrome

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

id Related Disease Score Top Affiliating Genes
1 prostate cancer 10.5
2 prostatitis 10.2
3 breast cancer 9.9
4 chlamydia 9.9
5 neuronitis 9.9
6 hepatosplenic t-cell lymphoma 9.8
7 schizophrenia 9.7

Graphical network of the top 20 diseases related to Tarp Syndrome:



Diseases related to Tarp Syndrome

Symptoms & Phenotypes for Tarp Syndrome

Symptoms by clinical synopsis from OMIM:

311900

Clinical features from OMIM:

311900

Human phenotypes related to Tarp Syndrome:

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

Drugs & Therapeutics for Tarp Syndrome

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pantoprazole Approved 102625-70-7 4679
2
Proton pump inhibitors
3 Gastrointestinal Agents
4 Antacids
5 Anti-Ulcer Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 Efficacy of Pantoprazole 20/40 mg Once Daily (od) in Patients Older Than 12 Years Who Have Gastrointestinal Symptoms of Reflux Disease Completed NCT00829738

Search NIH Clinical Center for Tarp Syndrome

Genetic Tests for Tarp Syndrome

Genetic tests related to Tarp Syndrome:

id Genetic test Affiliating Genes
1 Tarp Syndrome 29 24 RBM10

Anatomical Context for Tarp Syndrome

MalaCards organs/tissues related to Tarp Syndrome:

39
Heart, Tongue, Kidney

Publications for Tarp Syndrome

Articles related to Tarp Syndrome:

id Title Authors Year
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

ClinVar genetic disease variations for Tarp Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RBM10 NM_005676.4(RBM10): c.1893dupA (p.Pro632Thrfs) duplication Pathogenic rs886044715 GRCh37 Chromosome X, 47041668: 47041668
2 RBM10 NM_005676.4(RBM10): c.1235G> A (p.Trp412Ter) single nucleotide variant Pathogenic rs267607000 GRCh37 Chromosome X, 47039892: 47039892
3 RBM10 NM_005676.4(RBM10): c.448C> T (p.Gln150Ter) single nucleotide variant Pathogenic rs886044718 GRCh38 Chromosome X, 47173143: 47173143

Expression for Tarp Syndrome

Search GEO for disease gene expression data for Tarp Syndrome.

Pathways for Tarp Syndrome

GO Terms for Tarp Syndrome

Sources for Tarp Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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