TARPS
MCID: TRP006
MIFTS: 57

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 56 12 52 58 73 36 29 13 6 43 15 71
Tarps 56 12 52 73
Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence of the Left Superior Vena Cava Syndrome 12 52 58
Pierre Robin Syndrome with Congenital Heart Malformation and Clubfoot 56 52 73
Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome 12 52 58
Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome 12 52 58
Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, and Persistence of Left Superior Vena Cava 56 52
Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence of the Left Superior Vena Cava 52
Talipes Equinovarus Atrial Septal Defect Robin Sequence and Persistence of Left Superior Vena Cava 73
Pierre Robin Sequence - Congenital Heart Defect - Talipes 52
Pierre Robin Syndrome - Congenital Heart Defect - Talipes 52
Syndrome, Tarp 39

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive


HPO:

31

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


Summaries for Tarp Syndrome

NIH Rare Diseases : 52 TARP syndrome is a rare condition affecting males that causes several birth defects . TARP stands for T alipes equinovarus, A trial septal defect, R obin sequence, and P ersistent 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 tarps, is related to bipolar disorder and schizophrenia. An important gene associated with Tarp Syndrome is RBM10 (RNA Binding Motif Protein 10), and among its related pathways/superpathways are Transmission across Chemical Synapses and Circadian entrainment. The drugs Promethazine and Diphenhydramine have been mentioned in the context of this disorder. Affiliated tissues include heart, tongue and eye, and related phenotypes are atrial septal defect and talipes equinovarus

Disease Ontology : 12 A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has material basis in hemizygous mutation in RBM10 on chromosome Xp11.3.

OMIM : 56 The classic features of TARP syndrome are talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava. Not all patients have all classic features. Some patients have the additional features of central nervous system dysfunction, renal abnormalities, variable cardiac anomalies including hypertrophic obstructive cardiomyopathy, and variable distal limb defects including syndactyly. Most patients die in late prenatal or early postnatal stages (summary by Kaeppler et al., 2018). (311900)

KEGG : 36 TARP syndrome is a disorder marked by early lethality. It comprises Talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left superior vena cava. It is inherited in an X-linked recessive pattern. Expression analysis of mouse orthologue of the causative gene revealed that the gene is expressed in the parts where malformations in TARP syndrome are observed, such as in the branchial arches and in the limb/tail bud regions.

UniProtKB/Swiss-Prot : 73 TARP syndrome: A disorder characterized by the Robin sequence (micrognathia, glossoptosis and cleft palate), talipes equinovarus and cardiac defects.

Related Diseases for Tarp Syndrome

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

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 bipolar disorder 29.5 GRIA3 GRIA2 GRIA1 DLG4 DLG3 CACNG2
2 schizophrenia 27.2 PICK1 GRIP1 GRIA4 GRIA3 GRIA2 GRIA1
3 prostate cancer 10.8
4 chlamydia 10.7
5 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.4
6 clubfoot 10.4
7 isolated pierre robin sequence 10.4
8 heart septal defect 10.4
9 atrial heart septal defect 10.4
10 hepatosplenic t-cell lymphoma 10.3
11 cleft palate, isolated 10.3
12 kaufman oculocerebrofacial syndrome 10.2 GRIA2 GRIA1 DLG4
13 alzheimer disease 3 10.1 GRIA4 GRIA3
14 chromosome 3q29 deletion syndrome 10.1 DLG3 DLG1
15 chlorpropamide-alcohol flushing 10.1
16 leukemia, acute myeloid 10.1
17 chlamydia pneumonia 10.1
18 myeloid leukemia 10.1
19 alacrima, achalasia, and mental retardation syndrome 10.1
20 kagami-ogata syndrome 10.1 SHISA9 GRIA2 GRIA1 DLG4
21 x-linked monogenic disease 10.1 GRIA2 GRIA1 DLG4 CACNG2
22 status epilepticus 10.1 GRIA3 GRIA2 GRIA1
23 exudative vitreoretinopathy 1 10.0
24 methane production 10.0
25 ataxia and polyneuropathy, adult-onset 10.0
26 suppression of tumorigenicity 12 10.0
27 yemenite deaf-blind hypopigmentation syndrome 10.0
28 leukemia, chronic myeloid 10.0
29 major affective disorder 8 10.0
30 major affective disorder 9 10.0
31 pachyonychia congenita 3 10.0
32 helix syndrome 10.0
33 generalized epilepsy with febrile seizures plus 10.0
34 childhood acute myeloid leukemia 10.0
35 adenoid cystic carcinoma 10.0
36 leukemia 10.0
37 lymphogranuloma venereum 10.0
38 melanoma 10.0
39 adenocarcinoma 10.0
40 infertility 10.0
41 bronchitis 10.0
42 chronic pain 10.0
43 cleft chin 10.0
44 chromosome 2q35 duplication syndrome 10.0
45 tetralogy of fallot 10.0
46 volvulus of midgut 10.0
47 anus, imperforate 10.0
48 cryptorchidism, unilateral or bilateral 10.0
49 3-methylglutaconic aciduria, type iii 10.0
50 corpus callosum, partial agenesis of, x-linked 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:

58 31 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 atrial septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001631
2 talipes equinovarus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001762
3 pierre-robin sequence 58 31 hallmark (90%) Very frequent (99-80%) HP:0000201
4 persistent left superior vena cava 58 31 hallmark (90%) Very frequent (99-80%) HP:0005301
5 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
6 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
7 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
8 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
9 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
10 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
11 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
12 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
13 glossoptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000162
14 underdeveloped supraorbital ridges 58 31 frequent (33%) Frequent (79-30%) HP:0009891
15 sloping forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000340
16 rocker bottom foot 58 31 frequent (33%) Frequent (79-30%) HP:0001838
17 cyanosis 58 31 frequent (33%) Frequent (79-30%) HP:0000961
18 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
19 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
20 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
21 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
22 thick eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0000574
23 optic atrophy 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000648
24 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
25 short sternum 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000879
26 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
27 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
28 pectus excavatum 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000767
29 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
30 tetralogy of fallot 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001636
31 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
32 apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002104
33 small earlobe 58 31 occasional (7.5%) Occasional (29-5%) HP:0000385
34 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
35 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
36 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
37 broad-based gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002136
38 single transverse palmar crease 58 31 occasional (7.5%) Occasional (29-5%) HP:0000954
39 short palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0012745
40 tongue nodules 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000199
41 clinodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0030084
42 abnormal corpus callosum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001273
43 hypoplasia of proximal radius 58 31 occasional (7.5%) Occasional (29-5%) HP:0006434
44 postaxial polydactyly 58 31 occasional (7.5%) Very rare (<4-1%) HP:0100259
45 extramedullary hematopoiesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001978
46 widely patent fontanelles and sutures 58 31 occasional (7.5%) Occasional (29-5%) HP:0004492
47 prominent antihelix 58 31 occasional (7.5%) Occasional (29-5%) HP:0000395
48 seizure 31 occasional (7.5%) HP:0001250
49 abnormal hair pattern 58 31 very rare (1%) Very rare (<4-1%) HP:0010720
50 pulmonary hypoplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0002089

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
wide nasal bridge
anteverted nares

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

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

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

Cardiovascular Heart:
tetralogy of fallot (rare)
hypertrophic cardiomyopathy, obstructive (one patient)

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)

Growth Other:
failure to thrive
intrauterine growth retardation

Genitourinary Kidneys:
horseshoe kidney
hydronephrosis

Neurologic Central Nervous System:
cerebellar hypoplasia
cerebellar vermis hypoplasia
hypotonia
developmental delay
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

MGI Mouse Phenotypes related to Tarp Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.77 CACNG2 CNIH1 DLG1 DLG2 DLG3 DLG4
2 nervous system MP:0003631 9.53 CACNG2 CNIH2 CNIH3 DLG1 DLG2 DLG3

Drugs & Therapeutics for Tarp Syndrome

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Promethazine Approved, Investigational Phase 4 60-87-7 4927
2
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
3
Lumefantrine Approved Phase 4 82186-77-4 6437380
4
Artemether Approved Phase 4 71963-77-4 68911 9796294 119380
5 Pharmaceutical Solutions Phase 4
6 Antiparasitic Agents Phase 4
7 Antiprotozoal Agents Phase 4
8 Artemether, Lumefantrine Drug Combination Phase 4
9 Antimalarials Phase 4
10 Anti-Infective Agents Phase 4
11
Glutamic acid Approved, Nutraceutical Phase 1 56-86-0 33032
12
Zinc Approved, Investigational 7440-66-6 32051
13
leucovorin Approved 58-05-9 6006 143
14
Iron Approved, Experimental 15438-31-0, 7439-89-6 27284 23925
15
Mebendazole Approved, Vet_approved 31431-39-7 4030
16
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
17 Trace Elements
18 Micronutrients
19 Chrysanthemum
20 Vitamin B Complex
21 Anthelmintics
22 Folate
23 Vitamin B9

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Targeting Malaria High-risk Populations With Tailored Intervention Packages: A Study to Assess Feasibility and Effectiveness in Northern Namibia Enrolling by invitation NCT04094727 Phase 4 Presumptive treatment with Artemether-lumefantrine (AL)
2 Evaluation of a Novel Positron Emission Tomography (PET Radiotracer for TARP Gamma-8 Terminated NCT02108015 Phase 1
3 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing Unknown status NCT02510989
4 Genetic and Clinical Studies of Congenital Anomaly Syndromes Completed NCT00001404
5 Programme Effectiveness of an Integrated Programme to Reduce Maternal and Child Malnutrition in Kenya: Cluster Randomized, Parallel-group, Prospective, Follow-up Effectiveness Study in Children 6-35 Months of Age at Recruitment Active, not recruiting NCT03448484
6 Effectiveness of an Integrated Programme to Reduce Maternal and Child Malnutrition in Kenya: a Study in Pregnant Women and Their Offspring Active, not recruiting NCT03558464

Search NIH Clinical Center for Tarp Syndrome

Cochrane evidence based reviews: tarp syndrome

Genetic Tests for Tarp Syndrome

Genetic tests related to Tarp Syndrome:

# Genetic test Affiliating Genes
1 Tarp Syndrome 29 RBM10

Anatomical Context for Tarp Syndrome

MalaCards organs/tissues related to Tarp Syndrome:

40
Heart, Tongue, Eye, Brain, Kidney, Cerebellum, Cortex

Publications for Tarp Syndrome

Articles related to Tarp Syndrome:

(show top 50) (show all 206)
# Title Authors PMID Year
1
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. 61 56 6
24259342 2014
2
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. 56 6 61
20451169 2010
3
Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect. 56 6
5410571 1970
4
Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients. 56 61
30450804 2018
5
Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients. 56 61
12794682 2003
6
[ON THE PATHOGENESIS AND THERAPY OF PIERRE ROBIN SYNDROME]. 56
14293686 1964
7
AMPAR/TARP stoichiometry differentially modulates channel properties. 61
32452760 2020
8
Auxiliary Proteins are the Predominant Determinants of Differential Efficacy of Clinical Candidates Acting as AMPA Receptor Positive Allosteric Modulators. 61
32111699 2020
9
Radiometric Calibration and Uncertainty Analysis of KOMPSAT-3A Using the Reflectance-Based Method. 61
32365984 2020
10
Synthesis and evaluation of 6-(11C-methyl(4-(pyridin-2-yl)thiazol-2-yl)amino)benzo[d]thiazol-2(3H)-one for imaging γ-8 dependent transmembrane AMPA receptor regulatory protein by PET. 61
31879207 2020
11
A sex difference in the response of the rodent postsynaptic density to synGAP haploinsufficiency. 61
31939740 2020
12
Mechanism of modulation of AMPA receptors by TARP-γ8. 61
31748249 2020
13
AMPA receptor subunit localization in schizophrenia anterior cingulate cortex. 61
32014361 2020
14
Structures of the AMPA receptor in complex with its auxiliary subunit cornichon. 61
31806817 2019
15
Structural and functional insights into transmembrane AMPA receptor regulatory protein complexes. 61
31615831 2019
16
Phase Separation-Mediated TARP/MAGUK Complex Condensation and AMPA Receptor Synaptic Transmission. 61
31492534 2019
17
Stargazin and γ4 slow the channel opening and closing rates of GluA4 AMPA receptors. 61
31267004 2019
18
TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations. 61
30189253 2019
19
Modulation of TARP γ8-Containing AMPA Receptors as a Novel Therapeutic Approach for Chronic Pain. 61
30910921 2019
20
First reported adult patient with TARP syndrome: A case report. 61
30462380 2018
21
Incidence, Distribution, and Pathogenicity of Fungi Causing Root Rot in Idaho Long-Term Sugar Beet Storage Piles. 61
30169137 2018
22
Polyamine-mediated channel block of ionotropic glutamate receptors and its regulation by auxiliary proteins. 61
30333231 2018
23
Modulation of AMPA receptor surface diffusion restores hippocampal plasticity and memory in Huntington's disease models. 61
30323233 2018
24
Phosphorylation of the AMPAR-TARP Complex in Synaptic Plasticity. 61
30297624 2018
25
Synthesis, pharmacology and preclinical evaluation of 11C-labeled 1,3-dihydro-2H-benzo[d]imidazole-2-ones for imaging γ8-dependent transmembrane AMPA receptor regulatory protein. 61
30145376 2018
26
Lead Optimization of 5-Aryl Benzimidazolone- and Oxindole-Based AMPA Receptor Modulators Selective for TARP γ-8. 61
30128074 2018
27
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. 61
30167019 2018
28
Tarps differentially affect the pharmacology of ampakines. 61
29906466 2018
29
Guano exposed: Impact of aerobic conditions on bat fecal microbiota. 61
29938074 2018
30
RBM10: Harmful or helpful-many factors to consider. 61
29274279 2018
31
Auxiliary subunits of AMPA receptors: The discovery of a forebrain-selective antagonist, LY3130481/CERC-611. 61
28987594 2018
32
Efficacy of Anaerobic Soil Disinfestation for Control of Prunus Replant Disease. 61
30673462 2018
33
Effect of environmental conditions on the permeability of low density polyethylene film and totally impermeable film to methyl isothiocyanate fumigant. 61
28460289 2017
34
Activation and Desensitization Mechanism of AMPA Receptor-TARP Complex by Cryo-EM. 61
28823560 2017
35
Dual Effects of TARP γ-2 on Glutamate Efficacy Can Account for AMPA Receptor Autoinactivation. 61
28768197 2017
36
Control of AMPA receptor activity by the extracellular loops of auxiliary proteins. 61
28871958 2017
37
Autoregulation of RBM10 and cross-regulation of RBM10/RBM5 via alternative splicing-coupled nonsense-mediated decay. 61
28586478 2017
38
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. 61
28577551 2017
39
TARP γ-2 Is Required for Inflammation-Associated AMPA Receptor Plasticity within Lamina II of the Spinal Cord Dorsal Horn. 61
28559374 2017
40
Molecular Mechanism of AMPA Receptor Modulation by TARP/Stargazin. 61
28238551 2017
41
TARPs and AMPA Receptors: Function Follows Form. 61
28279361 2017
42
The RNA-binding landscape of RBM10 and its role in alternative splicing regulation in models of mouse early development. 61
27763814 2017
43
Architecture of fully occupied GluA2 AMPA receptor-TARP complex elucidated by cryo-EM. 61
27368053 2016
44
Distribution of the SynDIG4/proline-rich transmembrane protein 1 in rat brain. 61
26660156 2016
45
Elucidation of AMPA receptor-stargazin complexes by cryo-electron microscopy. 61
27365450 2016
46
Zebrafish TARP Cacng2 is required for the expression and normal development of AMPA receptors at excitatory synapses. 61
26178704 2016
47
Discovery of the First α-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid (AMPA) Receptor Antagonist Dependent upon Transmembrane AMPA Receptor Regulatory Protein (TARP) γ-8. 61
27067148 2016
48
TARP γ-2 and γ-8 Differentially Control AMPAR Density Across Schaffer Collateral/Commissural Synapses in the Hippocampal CA1 Area. 61
27076426 2016
49
GSG1L suppresses AMPA receptor-mediated synaptic transmission and uniquely modulates AMPA receptor kinetics in hippocampal neurons. 61
26932439 2016
50
[On-Orbit Multispectral Sensor Characterization Based on Spectral Tarps]. 61
27400529 2016

Variations for Tarp Syndrome

ClinVar genetic disease variations for Tarp Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RBM10 NM_005676.5(RBM10):c.159del (p.Lys54fs)deletion Pathogenic 433146 rs1556770954 X:47028855-47028855 X:47169456-47169456
2 RBM10 NM_005676.5(RBM10):c.1249-1G>ASNV Pathogenic 436516 rs1556778986 X:47040613-47040613 X:47181214-47181214
3 RBM10 GRCh37/hg19 Xp11.23(chrX:47039376-47040521)copy number loss Pathogenic 625791 X:47039376-47040521
4 RBM10 NM_005676.5(RBM10):c.724+2T>CSNV Pathogenic 689781 X:47038564-47038564 X:47179165-47179165
5 RBM10 NM_005676.5(RBM10):c.1893dup (p.Pro632fs)duplication Pathogenic 11643 rs886044715 X:47041667-47041668 X:47182268-47182269
6 RBM10 NM_005676.5(RBM10):c.1235G>A (p.Trp412Ter)SNV Pathogenic 11644 rs267607000 X:47039892-47039892 X:47180493-47180493
7 RBM10 NM_005676.5(RBM10):c.448C>T (p.Gln150Ter)SNV Pathogenic 137613 rs886044718 X:47032542-47032542 X:47173143-47173143

Expression for Tarp Syndrome

Search GEO for disease gene expression data for Tarp Syndrome.

Pathways for Tarp Syndrome

Pathways related to Tarp Syndrome according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.75 PICK1 GRIP1 GRIA4 GRIA3 GRIA2 GRIA1
2
Show member pathways
12.63 GRIA4 GRIA3 GRIA2 GRIA1 DLG4
3
Show member pathways
12.5 GRIA4 GRIA3 GRIA2 GRIA1
4 12.44 PICK1 GRIA4 GRIA3 GRIA2 GRIA1 DLG4
5
Show member pathways
12.4 GRIA4 GRIA3 GRIA2 GRIA1
6 12.23 GRIA4 GRIA3 GRIA2 GRIA1
7 12.18 GRIA4 GRIA3 GRIA2 GRIA1
8
Show member pathways
12.13 GRIA4 GRIA3 GRIA2 GRIA1 DLG4
9 12.02 DLG4 DLG3 DLG2 DLG1
10 12.01 GRIP1 GRIA3 GRIA2 GRIA1 DLG1
11
Show member pathways
11.98 GRIA4 GRIA3 GRIA1 DLG4 DLG3 DLG2
12 11.9 GRIA3 GRIA2 GRIA1
13
Show member pathways
11.9 GRIA4 GRIA3 GRIA2 GRIA1 DLG4
14 11.88 GRIA4 GRIA3 GRIA2
15
Show member pathways
11.86 DLG4 DLG3 DLG1
16
Show member pathways
11.85 GRIA4 GRIA3 GRIA2 GRIA1
17
Show member pathways
11.75 GRIA4 GRIA3 GRIA2 GRIA1
18 11.49 GRIA3 GRIA2 GRIA1
19 11.31 GRIA4 GRIA3 GRIA2 GRIA1
20
Show member pathways
11.21 PICK1 GRIP1 GRIA4 GRIA3 GRIA2 GRIA1
21 11.07 GRIA4 GRIA3 GRIA2 GRIA1
22 10.76 GRIA4 GRIA3 GRIA1 DLG4 DLG3 DLG1
23 10.75 DLG4 CACNG2

GO Terms for Tarp Syndrome

Cellular components related to Tarp Syndrome according to GeneCards Suite gene sharing:

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.52 SYNDIG1 SHISA9 PICK1 NETO2 NETO1 GSG1L
2 integral component of membrane GO:0016021 10.45 SYNDIG1 SHISA9 NETO2 NETO1 GSG1L GRIA4
3 plasma membrane GO:0005886 10.45 SYNDIG1 SHISA9 PICK1 NETO1 GSG1L GRIP1
4 endoplasmic reticulum GO:0005783 10.19 GRIP1 GRIA2 GRIA1 DLG4 DLG1 CNIH2
5 cell projection GO:0042995 10.19 SYNDIG1 SHISA9 GRIP1 GRIA4 GRIA1 DLG4
6 endoplasmic reticulum membrane GO:0005789 10.15 GRIP1 GRIA2 GRIA1 DLG1 CNIH3 CNIH2
7 glutamatergic synapse GO:0098978 10.14 SHISA9 NETO1 GSG1L GRIP1 GRIA1 DLG4
8 dendrite GO:0030425 10.1 SYNDIG1 GRIP1 GRIA4 GRIA2 GRIA1 DLG4
9 neuron projection GO:0043005 10.09 PICK1 GRIP1 GRIA1 DLG4 DLG2 DLG1
10 postsynaptic density membrane GO:0098839 10.07 SYNDIG1 NETO1 GRIA4 GRIA3 GRIA2 GRIA1
11 dendritic spine GO:0043197 10.04 SYNDIG1 GRIA4 GRIA3 GRIA2 GRIA1 DLG4
12 postsynaptic membrane GO:0045211 10.03 SYNDIG1 SHISA9 NETO1 GRIP1 GRIA4 GRIA3
13 postsynaptic density GO:0014069 10.03 SYNDIG1 SHISA9 PICK1 NETO2 NETO1 GSG1L
14 AMPA glutamate receptor complex GO:0032281 10.02 SHISA9 GRIA4 GRIA3 GRIA2 GRIA1 DLG4
15 endocytic vesicle membrane GO:0030666 10 PICK1 GRIA4 GRIA3 GRIA2 GRIA1 DLG4
16 integral component of postsynaptic density membrane GO:0099061 9.95 SHISA9 NETO1 GSG1L GRIA1 CNIH2 CACNG2
17 excitatory synapse GO:0060076 9.91 SYNDIG1 NETO1 GRIA2 GRIA1 DLG4
18 ionotropic glutamate receptor complex GO:0008328 9.91 SHISA9 GRIA1 DLG4 DLG3 DLG2 DLG1
19 cell junction GO:0030054 9.89 SYNDIG1 SHISA9 PICK1 NETO1 GSG1L GRIP1
20 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.88 GRIA1 CNIH3 CNIH2 CNIH1
21 ER to Golgi transport vesicle membrane GO:0012507 9.88 GRIA1 CNIH3 CNIH2 CNIH1
22 dendritic shaft GO:0043198 9.84 SYNDIG1 DLG3 CNIH3 CNIH2
23 synaptic vesicle GO:0008021 9.83 PICK1 GRIA1 DLG4
24 postsynapse GO:0098794 9.83 GRIA2 GRIA1 DLG4
25 neuromuscular junction GO:0031594 9.8 DLG4 DLG2 DLG1
26 synaptic membrane GO:0097060 9.77 GRIA1 DLG4 DLG1
27 somatodendritic compartment GO:0036477 9.65 GRIA1 CACNG2
28 dendritic spine membrane GO:0032591 9.64 SHISA9 GRIA1
29 asymmetric synapse GO:0032279 9.64 GSG1L GRIA2
30 juxtaparanode region of axon GO:0044224 9.62 DLG4 DLG2
31 neuron spine GO:0044309 9.62 GRIA1 DLG4
32 cerebellar mossy fiber GO:0044300 9.61 DLG4 CACNG2
33 synapse GO:0045202 9.58 SYNDIG1 SHISA9 PICK1 NETO2 NETO1 GSG1L

Biological processes related to Tarp Syndrome according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.05 GRIA4 GRIA3 GRIA2 GRIA1 CACNG2
2 ion transmembrane transport GO:0034220 9.93 GRIA4 GRIA3 GRIA2 GRIA1
3 MAPK cascade GO:0000165 9.93 DLG4 DLG3 DLG2 DLG1
4 chemical synaptic transmission GO:0007268 9.93 GRIA2 GRIA1 DLG4 DLG2 DLG1
5 ER to Golgi vesicle-mediated transport GO:0006888 9.88 GRIA1 CNIH3 CNIH2 CNIH1
6 cell-cell adhesion GO:0098609 9.87 DLG4 DLG3 DLG2 DLG1
7 regulation of membrane potential GO:0042391 9.85 DLG1 CNIH3 CNIH2 CACNG2
8 modulation of chemical synaptic transmission GO:0050804 9.83 GRIA4 GRIA3 GRIA2 GRIA1
9 COPII vesicle coating GO:0048208 9.78 GRIA1 CNIH3 CNIH2 CNIH1
10 regulation of postsynaptic membrane potential GO:0060078 9.76 GRIA4 GRIA3 GRIA2 GRIA1
11 receptor clustering GO:0043113 9.72 PICK1 DLG4 DLG3 DLG2 DLG1
12 ionotropic glutamate receptor signaling pathway GO:0035235 9.71 GRIA4 GRIA3 GRIA2 GRIA1
13 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.69 DLG3 DLG2 DLG1
14 embryo development GO:0009790 9.67 DLG3 DLG2 DLG1
15 neurotransmitter receptor localization to postsynaptic specialization membrane GO:0099645 9.67 DLG4 DLG2 DLG1 CACNG2
16 positive regulation of excitatory postsynaptic potential GO:2000463 9.65 NETO1 DLG4
17 regulation of long-term neuronal synaptic plasticity GO:0048169 9.65 NETO1 DLG4
18 regulation of AMPA receptor activity GO:2000311 9.65 SHISA9 GSG1L CNIH3 CNIH2 CACNG2
19 long-term synaptic depression GO:0060292 9.64 PICK1 GRIA1
20 glutamate receptor signaling pathway GO:0007215 9.64 GRIA4 GRIA3
21 regulation of postsynaptic neurotransmitter receptor activity GO:0098962 9.62 SHISA9 CNIH2
22 regulation of postsynaptic membrane neurotransmitter receptor levels GO:0099072 9.62 DLG3 CACNG2
23 cellular response to potassium ion GO:0035865 9.61 DLG4 DLG2
24 GMP metabolic process GO:0046037 9.61 DLG2 DLG1
25 maintenance of postsynaptic density structure GO:0099562 9.61 DLG3 DLG2 DLG1
26 postsynaptic neurotransmitter receptor diffusion trapping GO:0098970 9.6 DLG4 CACNG2
27 GDP metabolic process GO:0046710 9.59 DLG2 DLG1
28 positive regulation of neuron projection arborization GO:0150012 9.58 GRIP1 DLG4
29 regulation of kainate selective glutamate receptor activity GO:2000312 9.56 NETO2 NETO1
30 receptor localization to synapse GO:0097120 9.55 NETO1 DLG4 DLG3 DLG2 DLG1
31 synaptic transmission, glutamatergic GO:0035249 9.43 GRIA4 GRIA3 GRIA2 GRIA1 CNIH3 CNIH2
32 regulation of NMDA receptor activity GO:2000310 9.28 GRIA4 GRIA3 GRIA2 GRIA1 DLG4 DLG3

Molecular functions related to Tarp Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 9.85 GRIA4 GRIA3 GRIA2 GRIA1
2 protein C-terminus binding GO:0008022 9.83 PICK1 GRIP1 DLG4 DLG3 DLG1
3 ion channel activity GO:0005216 9.81 GRIA4 GRIA3 GRIA2 GRIA1
4 kinase binding GO:0019900 9.8 DLG4 DLG3 DLG2 DLG1
5 PDZ domain binding GO:0030165 9.78 SHISA9 GRIA1 DLG4 DLG3
6 amyloid-beta binding GO:0001540 9.76 GRIA4 GRIA3 GRIA2 GRIA1
7 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.71 GRIA4 GRIA3 GRIA2 GRIA1
8 ligand-gated ion channel activity GO:0015276 9.67 GRIA4 GRIA3 GRIA2 GRIA1
9 glutamate receptor activity GO:0008066 9.56 GRIA4 GRIA3 GRIA2 GRIA1
10 guanylate kinase activity GO:0004385 9.54 DLG2 DLG1
11 channel regulator activity GO:0016247 9.52 CNIH3 CACNG2
12 structural constituent of postsynaptic density GO:0098919 9.5 DLG3 DLG2 DLG1
13 ionotropic glutamate receptor activity GO:0004970 9.46 GRIA4 GRIA3 GRIA2 GRIA1
14 ionotropic glutamate receptor binding GO:0035255 9.35 NETO2 NETO1 DLG4 DLG3 CACNG2
15 AMPA glutamate receptor activity GO:0004971 8.92 GRIA4 GRIA3 GRIA2 GRIA1

Sources for Tarp Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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