MCID: TRP006
MIFTS: 32

Tarp Syndrome malady

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

Aliases & Classifications for Tarp Syndrome

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Tarp Syndrome:

Name: Tarp Syndrome 52 48 24 54 70 12 68
Tarps 48 24 70 27
Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence of the Left Superior Vena Cava Syndrome 48 54
Pierre Robin Syndrome with Congenital Heart Malformation and Clubfoot 48 70
Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome 48 54
Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome 48 54
 
Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence of the Left Superior Vena Cava 48
Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, and Persistence of Left Superior Vena Cava 48
Talipes Equinovarus Atrial Septal Defect Robin Sequence and Persistence of Left Superior Vena Cava 70
Pierre Robin Sequence - Congenital Heart Defect - Talipes 48
Pierre Robin Syndrome - Congenital Heart Defect - Talipes 48

Characteristics:

HPO:

64
tarp syndrome:
Inheritance: x-linked inheritance

Classifications:



External Ids:

OMIM52 311900
Orphanet54 ORPHA2886
MESH via Orphanet40 C536942
UMLS via Orphanet69 C1839463
ICD10 via Orphanet31 Q87.8
MedGen37 C1839463
MeSH39 D003025

Summaries for Tarp Syndrome

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NIH Rare Diseases:48 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:70 TARP syndrome: A disorder characterized by the Robin sequence (micrognathia, glossoptosis and cleft palate), talipes equinovarus and cardiac defects.

Description from OMIM:52 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 cancer10.6
2prostatitis10.2
3breast cancer9.9
4chlamydia9.9
5neuronitis9.9
6hepatosplenic t-cell lymphoma9.8
7schizophrenia9.7

Graphical network of diseases related to Tarp Syndrome:



Diseases related to tarp syndrome

Symptoms & Phenotypes for Tarp Syndrome

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Symptoms by clinical synopsis from OMIM:

311900

Clinical features from OMIM:

311900

Human phenotypes related to Tarp Syndrome:

 64 (show all 37)
id Description HPO Frequency HPO Source Accession
1 glossoptosis64 hallmark (90%) HP:0000162
2 cleft palate64 hallmark (90%) HP:0000175
3 micrognathia64 hallmark (90%) HP:0000347
4 atria septal defect64 hallmark (90%) HP:0001631
5 arteriovenous malformation64 hallmark (90%) HP:0100026
6 cryptorchidism64 typical (50%) HP:0000028
7 low-set, posteriorly rotated ears64 typical (50%) HP:0000368
8 tongue nodules64 rare (5%) HP:0000199
9 optic atrophy64 rare (5%) HP:0000648
10 short sternum64 rare (5%) HP:0000879
11 tetralogy of fallot64 rare (5%) HP:0001636
12 postaxial polydactyly64 rare (5%) HP:0100259
13 horseshoe kidney64 HP:0000085
14 hydronephrosis64 HP:0000126
15 high palate64 HP:0000218
16 large fontanelles64 HP:0000239
17 posteriorly rotated ears64 HP:0000358
18 low-set ears64 HP:0000369
19 prominent antihelix64 HP:0000395
20 wide nasal bridge64 HP:0000431
21 anteverted nares64 HP:0000463
22 single transverse palmar crease64 HP:0000954
23 muscular hypotonia64 HP:0001252
24 global developmental delay64 HP:0001263
25 abnormality of the corpus callosum64 HP:0001273
26 cerebellar vermis hypoplasia64 HP:0001320
27 cerebellar hypoplasia64 HP:0001321
28 failure to thrive64 HP:0001508
29 intrauterine growth retardation64 HP:0001511
30 talipes equinovarus64 HP:0001762
31 hypoplasia of the radius64 HP:0002984
32 deep palmar crease64 HP:0006191
33 microtia64 HP:0008551
34 underdeveloped supraorbital ridges64 HP:0009891
35 cutaneous syndactyly64 HP:0012725
36 short palpebral fissure64 HP:0012745
37 clinodactyly64 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
Pantoprazoleapproved172102625-70-74679
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
2
Proton pump inhibitors1080
Synonyms:
 
PPIs
3Gastrointestinal Agents8109
4Anti-Ulcer Agents1767
5Antacids1767

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 Syndrome27 24 RBM10

Anatomical Context for Tarp Syndrome

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MalaCards organs/tissues related to Tarp Syndrome:

36
Heart, Tongue, Kidney

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
1RBM10NM_005676.4(RBM10): c.1893dupA (p.Pro632Thrfs)duplicationPathogenicrs886044715GRCh37Chr X, 47041668: 47041668
2RBM10NM_005676.4(RBM10): c.1235G> A (p.Trp412Ter)SNVPathogenicrs267607000GRCh37Chr X, 47039892: 47039892
3RBM10NM_005676.4(RBM10): c.448C> T (p.Gln150Ter)SNVPathogenicrs886044718GRCh38Chr X, 47173143: 47173143

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet