MCID: TRP006
MIFTS: 30

Tarp Syndrome malady

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

Aliases & Classifications for Tarp Syndrome

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 60UMLS, 20GeneTests, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Tarp Syndrome, Aliases & Descriptions:

Name: Tarp Syndrome 45 10 41 47 60
Tarps 41 20 22
Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence of the Left Superior Vena Cava 47
Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, and Persistence of Left Superior Vena Cava 41
 
Pierre Robin Syndrome with Congenital Heart Malformation and Clubfoot 41
Pierre Robin Syndrome - Congenital Heart Defect - Talipes 47
Pierre Robin Sequence - Congenital Heart Defect - Talipes 47


Classifications:



External Ids:

OMIM45 311900
Orphanet47 2886
MESH via Orphanet34 C536942
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C1839463

Summaries for Tarp Syndrome

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NIH Rare Diseases:41 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 based summary: Tarp Syndrome, also known as tarps, is related to prostatitis and prostate cancer, 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 testes.

Description from OMIM:45 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
1prostatitis10.5
2prostate cancer10.3
3breast cancer10.2
4neuronitis10.2
5rheumatoid arthritis10.0
6lung cancer10.0
7respiratory syncytial virus infectious disease10.0

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:

 47 (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 glossoptosis hallmark (90%) HP:0000162
2 cleft palate hallmark (90%) HP:0000175
3 micrognathia hallmark (90%) HP:0000347
4 defect in the atrial septum 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 global developmental delay HP:0001263
27 abnormality of the corpus callosum HP:0001273
28 cerebellar vermis hypoplasia HP:0001320
29 cerebellar hypoplasia HP:0001321
30 x-linked inheritance HP:0001417
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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Drug clinical trials:

Search ClinicalTrials for Tarp Syndrome

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 Syndrome20 22 RBM10

Anatomical Context for Tarp Syndrome

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MalaCards organs/tissues related to Tarp Syndrome:

31
Heart, Tongue, Testes, 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:

6
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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Compounds for genes affiliated with Tarp Syndrome

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GO Terms for genes affiliated with Tarp Syndrome

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Products for genes affiliated with Tarp Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Tarp Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet