TARPS
MCID: TRP006
MIFTS: 34

Tarp Syndrome (TARPS)

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

Aliases & Classifications for Tarp Syndrome

MalaCards integrated aliases for Tarp Syndrome:

Name: Tarp Syndrome 58 54 60 76 38 30 13 6 74
Pierre Robin Syndrome with Congenital Heart Malformation and Clubfoot 58 54 76
Tarps 58 54 76
Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence of the Left Superior Vena Cava Syndrome 54 60
Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, and Persistence of Left Superior Vena Cava 58 54
Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome 54 60
Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome 54 60
Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence of the Left Superior Vena Cava 54
Talipes Equinovarus Atrial Septal Defect Robin Sequence and Persistence of Left Superior Vena Cava 76
Pierre Robin Sequence - Congenital Heart Defect - Talipes 54
Pierre Robin Syndrome - Congenital Heart Defect - Talipes 54
Syndrome, Tarp 41

Characteristics:

OMIM:

58
Inheritance:
x-linked recessive


HPO:

33

Classifications:



Summaries for Tarp Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Tarp Syndrome, also known as pierre robin syndrome with congenital heart malformation and clubfoot, is related to prostate cancer and chlamydia. An important gene associated with Tarp Syndrome is RBM10 (RNA Binding Motif Protein 10). Affiliated tissues include tongue, heart and kidney, and related phenotypes are pectus excavatum and optic atrophy

UniProtKB/Swiss-Prot : 76 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:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 prostate cancer 10.8
2 chlamydia 10.5
3 prostate cancer, hereditary, 8 10.3
4 prostate cancer, hereditary, 6 10.3
5 breast cancer 10.2
6 hepatosplenic t-cell lymphoma 10.1
7 chlorpropamide-alcohol flushing 10.0
8 exudative vitreoretinopathy 1 10.0
9 schizophrenia 10.0
10 helix syndrome 10.0
11 chlamydia pneumonia 10.0
12 adenoid cystic carcinoma 10.0
13 infertility 10.0
14 pain - chronic 10.0
15 tetralogy of fallot 10.0
16 heart disease 10.0
17 intestinal volvulus 10.0

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



Diseases related to Tarp Syndrome

Symptoms & Phenotypes for Tarp Syndrome

Human phenotypes related to Tarp Syndrome:

33 (show all 36)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 33 occasional (7.5%) HP:0000767
2 optic atrophy 33 occasional (7.5%) HP:0000648
3 short sternum 33 occasional (7.5%) HP:0000879
4 tetralogy of fallot 33 occasional (7.5%) HP:0001636
5 tongue nodules 33 occasional (7.5%) HP:0000199
6 postaxial polydactyly 33 occasional (7.5%) HP:0100259
7 hypertelorism 33 HP:0000316
8 low-set ears 33 HP:0000369
9 clinodactyly 33 HP:0030084
10 high palate 33 HP:0000218
11 failure to thrive 33 HP:0001508
12 global developmental delay 33 HP:0001263
13 wide nasal bridge 33 HP:0000431
14 microtia 33 HP:0008551
15 anteverted nares 33 HP:0000463
16 glossoptosis 33 HP:0000162
17 cleft palate 33 HP:0000175
18 micrognathia 33 HP:0000347
19 intrauterine growth retardation 33 HP:0001511
20 horseshoe kidney 33 HP:0000085
21 talipes equinovarus 33 HP:0001762
22 cerebellar hypoplasia 33 HP:0001321
23 large fontanelles 33 HP:0000239
24 hydronephrosis 33 HP:0000126
25 generalized hypotonia 33 HP:0001290
26 abnormality of cardiovascular system morphology 33 HP:0030680
27 underdeveloped supraorbital ridges 33 HP:0009891
28 deep palmar crease 33 HP:0006191
29 hypoplasia of the radius 33 HP:0002984
30 single transverse palmar crease 33 HP:0000954
31 cerebellar vermis hypoplasia 33 HP:0001320
32 short palpebral fissure 33 HP:0012745
33 posteriorly rotated ears 33 HP:0000358
34 cutaneous syndactyly 33 HP:0012725
35 prominent antihelix 33 HP:0000395
36 abnormal corpus callosum morphology 33 HP:0001273

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
posteriorly rotated ears
small ears
prominent antihelix
simple helix

Growth Other:
failure to thrive
intrauterine growth retardation

Genitourinary Kidneys:
horseshoe kidney
hydronephrosis

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

Cardiovascular Heart:
tetralogy of fallot (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)

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

Head And Neck Nose:
wide nasal bridge
anteverted nares

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

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

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

Skeletal Feet:
postaxial polydactyly (rare)

Abdomen Gastrointestinal:
tortuous duodenum (rare)

Skin Nails Hair Hair:
abnormal hair patterning (rare)

Clinical features from OMIM:

311900

Drugs & Therapeutics for Tarp Syndrome

Search Clinical Trials , NIH Clinical Center for Tarp Syndrome

Genetic Tests for Tarp Syndrome

Genetic tests related to Tarp Syndrome:

# Genetic test Affiliating Genes
1 Tarp Syndrome 30 RBM10

Anatomical Context for Tarp Syndrome

MalaCards organs/tissues related to Tarp Syndrome:

42
Tongue, Heart, Kidney, Eye, Cerebellum, T Cells

Publications for Tarp Syndrome

Articles related to Tarp Syndrome:

(show all 39)
# Title Authors Year
1
Efficacy and safety of cardioversion with continuous landiolol infusion for atrial tachyarrhythmia in an inflammatory state caused by volvulus in a child with TARP syndrome and postoperative tetralogy of Fallot. ( 30167019 )
2018
2
TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations. ( 30189253 )
2018
3
Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients. ( 30450804 )
2018
4
First reported adult patient with TARP syndrome: A case report. ( 30462380 )
2018
5
Tarps differentially affect the pharmacology of ampakines. ( 29906466 )
2018
6
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
7
TARPs and AMPA Receptors: Function Follows Form. ( 28279361 )
2017
8
Relative contribution of TARPs γ-2 and γ-7 to cerebellar excitatory synaptic transmission and motor behavior. ( 25583485 )
2015
9
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. ( 24259342 )
2014
10
Type I TARPs promote dendritic growth of early postnatal neocortical pyramidal cells in organotypic cultures. ( 24667327 )
2014
11
Mapping the interaction sites between AMPA receptors and TARPs reveals a role for the receptor N-terminal domain in channel gating. ( 25373908 )
2014
12
CrossTalk proposal: TARPs modulate AMPA receptor gating transitions. ( 23547186 )
2013
13
CrossTalk opposing view: TARPs modulate AMPA receptor conformations before the gating transitions. ( 23547187 )
2013
14
A role of TARPs in the expression and plasticity of calcium-permeable AMPARs: evidence from cerebellar neurons and glia. ( 23583927 )
2013
15
The regulation of glutamate receptor trafficking and function by TARPs and other transmembrane auxiliary subunits. ( 21993243 )
2012
16
Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. ( 21910224 )
2011
17
An emerging role for TARPs in neuropsychiatric disorders. ( 21116256 )
2011
18
Distribution of AMPA receptor subunits and TARPs in synaptic and extrasynaptic membranes of the adult rat nucleus accumbens. ( 21182898 )
2011
19
Alterations in AMPA receptor subunits and TARPs in the rat nucleus accumbens related to the formation of Ca²⁺-permeable AMPA receptors during the incubation of cocaine craving. ( 21276808 )
2011
20
The expanding social network of ionotropic glutamate receptors: TARPs and other transmembrane auxiliary subunits. ( 21521608 )
2011
21
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. ( 20451169 )
2010
22
TARPs differentially decorate AMPA receptors to specify neuropharmacology. ( 20219255 )
2010
23
The C-terminal domains of TARPs: unexpectedly versatile domains. ( 20224299 )
2010
24
Beyond TARPs: the growing list of auxiliary AMPAR subunits. ( 20399724 )
2010
25
TARPs gamma-2 and gamma-7 are essential for AMPA receptor expression in the cerebellum. ( 20529126 )
2010
26
Functional comparison of the effects of TARPs and cornichons on AMPA receptor trafficking and gating. ( 20805473 )
2010
27
Critical role for TARPs in early development despite broad functional redundancy. ( 18634809 )
2009
28
The stoichiometry of AMPA receptors and TARPs varies by neuronal cell type. ( 19524523 )
2009
29
The fast kinetics of AMPA GluR3 receptors is selectively modulated by the TARPs gamma 4 and gamma 8. ( 18395463 )
2008
30
Effect of plastic tarps over raised-beds and potassium thiosulfate in furrows on chloropicrin emissions from drip fumigated fields. ( 18440581 )
2008
31
The role of transmembrane AMPA receptor regulatory proteins (TARPs) in neurotransmission and receptor trafficking (Review). ( 18446621 )
2008
32
Laboratory-based bidirectional reflectance distribution functions of radiometric tarps. ( 18566627 )
2008
33
AMPA receptor subunit-specific regulation by a distinct family of type II TARPs. ( 18817736 )
2008
34
Evolutionary conserved role for TARPs in the gating of glutamate receptors and tuning of synaptic function. ( 18817737 )
2008
35
TARPs and the AMPA receptor trafficking paradox. ( 17329203 )
2007
36
Bidirectional synaptic plasticity regulated by phosphorylation of stargazin-like TARPs. ( 15664178 )
2005
37
Dynamic interaction of stargazin-like TARPs with cycling AMPA receptors at synapses. ( 15001777 )
2004
38
Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients. ( 12794682 )
2003
39
Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect. ( 5410571 )
1970

Variations for Tarp Syndrome

ClinVar genetic disease variations for Tarp Syndrome:

6 (show all 11)
# 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.1893dupA (p.Pro632Thrfs) duplication Pathogenic rs886044715 GRCh38 Chromosome X, 47182269: 47182269
3 RBM10 NM_005676.4(RBM10): c.1235G> A (p.Trp412Ter) single nucleotide variant Pathogenic rs267607000 GRCh37 Chromosome X, 47039892: 47039892
4 RBM10 NM_005676.4(RBM10): c.1235G> A (p.Trp412Ter) single nucleotide variant Pathogenic rs267607000 GRCh38 Chromosome X, 47180493: 47180493
5 RBM10 NM_005676.4(RBM10): c.448C> T (p.Gln150Ter) single nucleotide variant Pathogenic rs886044718 GRCh38 Chromosome X, 47173143: 47173143
6 RBM10 NM_005676.4(RBM10): c.448C> T (p.Gln150Ter) single nucleotide variant Pathogenic rs886044718 GRCh37 Chromosome X, 47032542: 47032542
7 RBM10 NM_005676.4(RBM10): c.159delC (p.Lys54Serfs) deletion Pathogenic rs1556770954 GRCh37 Chromosome X, 47028855: 47028855
8 RBM10 NM_005676.4(RBM10): c.159delC (p.Lys54Serfs) deletion Pathogenic rs1556770954 GRCh38 Chromosome X, 47169456: 47169456
9 RBM10 NM_005676.4(RBM10): c.1249-1G> A single nucleotide variant Pathogenic rs1556778986 GRCh37 Chromosome X, 47040613: 47040613
10 RBM10 NM_005676.4(RBM10): c.1249-1G> A single nucleotide variant Pathogenic rs1556778986 GRCh38 Chromosome X, 47181214: 47181214
11 RBM10 GRCh37/hg19 Xp11.23(chrX: 47039376-47040521) copy number loss Pathogenic GRCh37 Chromosome X, 47039376: 47040521

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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46 MESH via Orphanet
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50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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