Tarp Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

TARPS MCID: TRP006 MIFTS: 32	Tarp Syndrome (TARPS) Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Sources

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

tarp syndrome:
Inheritance x-linked inheritance x-linked recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁶⁰

Rare cardiac malformations

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 311900

KEGG ³⁸ H00943

MeSH ⁴⁵ D003025

MESH via Orphanet ⁴⁶ C536942

ICD10 via Orphanet ³⁵ Q87.8

UMLS via Orphanet ⁷⁵ C1839463

Orphanet ⁶⁰ ORPHA2886

MedGen ⁴³ C1839463

UMLS ⁷⁴ C1839463

Sources

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

Sources

Related Diseases for Tarp Syndrome

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

(show all 16)

#	Related Disease	Score
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	tetralogy of fallot	10.0
8	heart disease	10.0
9	intestinal volvulus	10.0
10	chlorpropamide-alcohol flushing	10.0
11	exudative vitreoretinopathy 1	10.0
12	schizophrenia	10.0
13	chlamydia pneumonia	10.0
14	adenoid cystic carcinoma	10.0
15	infertility	10.0
16	pain - chronic	10.0

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

Sources

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

Sources

Drugs & Therapeutics for Tarp Syndrome

Search Clinical Trials , NIH Clinical Center for Tarp Syndrome

Sources

Genetic Tests for Tarp Syndrome

Genetic tests related to Tarp Syndrome:

#	Genetic test	Affiliating Genes
1	Tarp Syndrome ³⁰	RBM10

Sources

Anatomical Context for Tarp Syndrome

MalaCards organs/tissues related to Tarp Syndrome:

⁴²

Tongue, Heart, Kidney, Eye

Sources

Publications for Tarp Syndrome

Articles related to Tarp Syndrome:

#	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 )	Miyamoto K...Yoshihara S	2018
2	TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations. ( 30189253 )	Niceta M...Digilio MC	2018
3	Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients. ( 30450804 )	Kaeppler KE...Collura CA	2018
4	First reported adult patient with TARP syndrome: A case report. ( 30462380 )	H?jland AT...Nielsen IK	2018
5	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 )	Powis Z....Jones C.	2017
6	Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. ( 24259342 )	Johnston J.J....Biesecker L.G.	2014
7	Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. ( 21910224 )	Gripp K.W....Biesecker L.G.	2011
8	Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients. ( 12794682 )	Kurpinski K.T....Biesecker L.G.	2003

Sources

Genes for Tarp Syndrome

Genes related to Tarp Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RBM10	RNA Binding Motif Protein 10	Protein Coding	1386.69	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰ GeneCards inferred via : Disorders Summaries Variants (show sections)	20451169 24259342 5410571

Sources

Variations for Tarp Syndrome

ClinVar genetic disease variations for Tarp Syndrome:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	RBM10	NM_005676.4(RBM10): c.1235G> A (p.Trp412Ter)	single nucleotide variant	Pathogenic	rs267607000	GRCh37	Chromosome X, 47039892: 47039892
2	RBM10	NM_005676.4(RBM10): c.1893dupA (p.Pro632Thrfs)	duplication	Pathogenic	rs886044715	GRCh37	Chromosome X, 47041668: 47041668
3	RBM10	NM_005676.4(RBM10): c.1893dupA (p.Pro632Thrfs)	duplication	Pathogenic	rs886044715	GRCh38	Chromosome X, 47182269: 47182269
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	GRCh38	Chromosome X, 47181214: 47181214
10	RBM10	NM_005676.4(RBM10): c.1249-1G> A	single nucleotide variant	Pathogenic	rs1556778986	GRCh37	Chromosome X, 47040613: 47040613

Sources

Expression for Tarp Syndrome

Search GEO for disease gene expression data for Tarp Syndrome.

Sources

Pathways for Tarp Syndrome

Sources

GO Terms for Tarp Syndrome

Sources

Sources for Tarp Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Tarp Syndrome (TARPS)

Aliases & Classifications for Tarp Syndrome

MalaCards integrated aliases for Tarp Syndrome:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Tarp Syndrome

Related Diseases for Tarp Syndrome

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

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

Symptoms & Phenotypes for Tarp Syndrome

Human phenotypes related to Tarp Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Tarp Syndrome

Genetic Tests for Tarp Syndrome

Genetic tests related to Tarp Syndrome:

Anatomical Context for Tarp Syndrome

MalaCards organs/tissues related to Tarp Syndrome:

Publications for Tarp Syndrome

Articles related to Tarp Syndrome:

Genes for Tarp Syndrome

Genes related to Tarp Syndrome (1 elite genes):

Variations for Tarp Syndrome

ClinVar genetic disease variations for Tarp Syndrome:

Expression for Tarp Syndrome

Pathways for Tarp Syndrome

GO Terms for Tarp Syndrome

Sources for Tarp Syndrome