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

MCID: TRP006 MIFTS: 31	Tarp Syndrome Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Tarp Syndrome

MalaCards integrated aliases for Tarp Syndrome:

Name: Tarp Syndrome ⁵⁷ ⁵³ ⁵⁹ ⁷⁵ ³⁷ ²⁹ ¹³ ⁶ ⁴⁰ ⁷³

Pierre Robin Syndrome with Congenital Heart Malformation and Clubfoot ⁵⁷ ⁵³ ⁷⁵

Tarps ⁵⁷ ⁵³ ⁷⁵

Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence of the Left Superior Vena Cava Syndrome ⁵³ ⁵⁹

Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, and Persistence of Left Superior Vena Cava ⁵⁷ ⁵³

Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome ⁵³ ⁵⁹

Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome ⁵³ ⁵⁹

Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence of the Left Superior Vena Cava ⁵³

Talipes Equinovarus Atrial Septal Defect Robin Sequence and Persistence of Left Superior Vena Cava ⁷⁵

Pierre Robin Sequence - Congenital Heart Defect - Talipes ⁵³

Pierre Robin Syndrome - Congenital Heart Defect - Talipes ⁵³

Characteristics:

OMIM:

⁵⁷

Inheritance:
x-linked recessive

HPO:

³²

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: ³⁴

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: ⁵⁹

Rare cardiac malformations

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 311900

Orphanet ⁵⁹ ORPHA2886

MESH via Orphanet ⁴⁵ C536942

UMLS via Orphanet ⁷⁴ C1839463

ICD10 via Orphanet ³⁴ Q87.8

MedGen ⁴² C1839463

MeSH ⁴⁴ D003025

KEGG ³⁷ H00943

UMLS ⁷³ C1839463

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Summaries for Tarp Syndrome

NIH Rare Diseases : ⁵³ 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 prostatitis. An important gene associated with Tarp Syndrome is RBM10 (RNA Binding Motif Protein 10). Affiliated tissues include heart, tongue and kidney, and related phenotypes are low-set ears and pectus excavatum

UniProtKB/Swiss-Prot : ⁷⁵ TARP syndrome: A disorder characterized by the Robin sequence (micrognathia, glossoptosis and cleft palate), talipes equinovarus and cardiac defects.

Description from OMIM: 311900

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Related Diseases for Tarp Syndrome

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

#	Related Disease	Score
1	prostate cancer	10.7
2	prostatitis	10.3
3	neuronitis	10.1
4	breast cancer	10.0
5	chlamydia	10.0
6	hepatosplenic t-cell lymphoma	9.9
7	schizophrenia	9.8
8	type i	9.8

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

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Symptoms & Phenotypes for Tarp Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Tarp Syndrome:

³² (show all 35)

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

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Drugs & Therapeutics for Tarp Syndrome

Search Clinical Trials , NIH Clinical Center for Tarp Syndrome

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Genetic Tests for Tarp Syndrome

Genetic tests related to Tarp Syndrome:

#	Genetic test	Affiliating Genes
1	Tarp Syndrome ²⁹	RBM10

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Anatomical Context for Tarp Syndrome

MalaCards organs/tissues related to Tarp Syndrome:

⁴¹

Heart, Tongue, Kidney, Eye

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Publications for Tarp Syndrome

Articles related to Tarp Syndrome:

#	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 )	Powis Z....Jones C.	2017
2	Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. ( 24259342 )	Johnston J.J....Biesecker L.G.	2014
3	Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. ( 21910224 )	Gripp K.W....Biesecker L.G.	2011
4	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

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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	1386.65	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	20451169 5410571 24259342

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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.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	GRCh37	Chromosome X, 47032542: 47032542
6	RBM10	NM_005676.4(RBM10): c.448C> T (p.Gln150Ter)	single nucleotide variant	Pathogenic	rs886044718	GRCh38	Chromosome X, 47173143: 47173143
7	RBM10	NM_005676.4(RBM10): c.159delC (p.Lys54Serfs)	deletion	Pathogenic		GRCh37	Chromosome X, 47028855: 47028855
8	RBM10	NM_005676.4(RBM10): c.159delC (p.Lys54Serfs)	deletion	Pathogenic		GRCh38	Chromosome X, 47169456: 47169456
9	RBM10	NM_005676.4(RBM10): c.1249-1G> A	single nucleotide variant	Pathogenic		GRCh38	Chromosome X, 47181214: 47181214
10	RBM10	NM_005676.4(RBM10): c.1249-1G> A	single nucleotide variant	Pathogenic		GRCh37	Chromosome X, 47040613: 47040613

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Expression for Tarp Syndrome

Search GEO for disease gene expression data for Tarp Syndrome.

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Pathways for Tarp Syndrome

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GO Terms for Tarp Syndrome

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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

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¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia