MCID: TRP006
MIFTS: 34

Tarp Syndrome

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

Aliases & Classifications for Tarp Syndrome

MalaCards integrated aliases for Tarp Syndrome:

Name: Tarp Syndrome 54 50 24 56 71 29 13 69
Tarps 50 24 71
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 71
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 71
Pierre Robin Sequence - Congenital Heart Defect - Talipes 50
Pierre Robin Syndrome - Congenital Heart Defect - Talipes 50

Characteristics:

OMIM:

54
Inheritance:
x-linked recessive


HPO:

32

Classifications:



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 failure to thrive, optic atrophy and low-set ears. An important gene associated with Tarp Syndrome is RBM10 (RNA Binding Motif Protein 10). The drugs Pantoprazole and Antacids have been mentioned in the context of this disorder. Affiliated tissues include heart, tongue and kidney.

UniProtKB/Swiss-Prot : 71 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 10.6
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 via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive
intrauterine growth retardation

Neurologic- Central Nervous System:
hypotonia
abnormal corpus callosum
developmental delay
cerebellar hypoplasia
cerebellar vermis hypoplasia

Head And Neck- Eyes:
short palpebral fissures
optic atrophy (rare)
underdeveloped supraorbital ridges
widely-spaced eyes (hypertelorism)

Genitourinary- Kidneys:
hydronephrosis
horseshoe kidney

Skeletal- Feet:
postaxial polydactyly (rare)

Chest- Ribs Sternum Clavicles And Scapulae:
pectus excavatum, mild (rare)
short sternum (rare)

Respiratory- Airways:
airway abnormalities

Skeletal- Limbs:
short radii, proximal

Voice:
squeaky cry (rare)

Head And Neck- Mouth:
high-arched palate
tongue nodules (rare)

Head And Neck- Ears:
low-set ears
posteriorly rotated ears
small ears
prominent antihelix
simple helix

Head And Neck- Nose:
anteverted nares
wide nasal bridge

Skeletal- Hands:
clinodactyly
single palmar crease
cutaneous syndactyly
deep palmar crease

Cardiovascular- Heart:
tetralogy of fallot (rare)

Skeletal- Skull:
large fontanels
widely split sagittal sutures
overriding lambdoid sutures

Abdomen- Gastroin testinal:
tortuous duodenum (rare)

Skin Nails & Hair- Hair:
abnormal hair patterning (rare)


Clinical features from OMIM:

311900

Human phenotypes related to Tarp Syndrome:

32 (show all 33)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 optic atrophy 32 occasional (7.5%) HP:0000648
3 low-set ears 32 HP:0000369
4 micrognathia 32 HP:0000347
5 intrauterine growth retardation 32 HP:0001511
6 cleft palate 32 HP:0000175
7 large fontanelles 32 HP:0000239
8 cerebellar hypoplasia 32 HP:0001321
9 posteriorly rotated ears 32 HP:0000358
10 anteverted nares 32 HP:0000463
11 global developmental delay 32 HP:0001263
12 hydronephrosis 32 HP:0000126
13 talipes equinovarus 32 HP:0001762
14 tetralogy of fallot 32 occasional (7.5%) HP:0001636
15 clinodactyly 32 HP:0030084
16 wide nasal bridge 32 HP:0000431
17 horseshoe kidney 32 HP:0000085
18 postaxial polydactyly 32 occasional (7.5%) HP:0100259
19 high palate 32 HP:0000218
20 muscular hypotonia 32 HP:0001252
21 microtia 32 HP:0008551
22 cerebellar vermis hypoplasia 32 HP:0001320
23 prominent antihelix 32 HP:0000395
24 single transverse palmar crease 32 HP:0000954
25 glossoptosis 32 HP:0000162
26 tongue nodules 32 occasional (7.5%) HP:0000199
27 cutaneous syndactyly 32 HP:0012725
28 short palpebral fissure 32 HP:0012745
29 short sternum 32 occasional (7.5%) HP:0000879
30 underdeveloped supraorbital ridges 32 HP:0009891
31 deep palmar crease 32 HP:0006191
32 hypoplasia of the radius 32 HP:0002984
33 abnormality of the corpus callosum 32 HP:0001273

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 Antacids
3 Anti-Ulcer Agents
4 Gastrointestinal Agents
5
Proton pump inhibitors

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
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 Pantoprazole

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, Eye

Publications for Tarp Syndrome

Articles related to Tarp Syndrome:

id Title Authors Year
1
Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration. ( 28577551 )
2017
2
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. ( 24259342 )
2014
3
Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. ( 21910224 )
2011
4
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
4 RBM10 NM_005676.4(RBM10): c.159delC (p.Lys54Serfs) deletion Pathogenic GRCh37 Chromosome X, 47028855: 47028855
5 RBM10 NM_005676.4(RBM10): c.1249-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome X, 47040613: 47040613

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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