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 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



x-linked recessive




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

Related Diseases for Tarp Syndrome

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

# Related Disease Score Top Affiliating Genes
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:

Diseases related to Tarp Syndrome

Symptoms & Phenotypes for Tarp Syndrome

Symptoms via clinical synopsis from OMIM:

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

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

squeaky cry (rare)

Skeletal Hands:
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
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:


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

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 29 RBM10

Anatomical Context for Tarp Syndrome

MalaCards organs/tissues related to Tarp Syndrome:

Heart, Tongue, Kidney, Eye

Publications for Tarp Syndrome

Articles related to Tarp Syndrome:

# Title Authors Year
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 )
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. ( 24259342 )
Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. ( 21910224 )
Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients. ( 12794682 )

Variations for Tarp Syndrome

ClinVar genetic disease variations for Tarp Syndrome:

# 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

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

9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
70 SNOMED-CT via Orphanet
72 Tocris
74 UMLS via Orphanet
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