MCID: TRP006
MIFTS: 31

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 53 49 55 71 36 28 13 69
Pierre Robin Syndrome with Congenital Heart Malformation and Clubfoot 53 49 71
Tarps 53 49 71
Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence of the Left Superior Vena Cava Syndrome 49 55
Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, and Persistence of Left Superior Vena Cava 53 49
Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome 49 55
Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome 49 55
Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence of the Left Superior Vena Cava 49
Talipes Equinovarus Atrial Septal Defect Robin Sequence and Persistence of Left Superior Vena Cava 71
Pierre Robin Sequence - Congenital Heart Defect - Talipes 49
Pierre Robin Syndrome - Congenital Heart Defect - Talipes 49

Characteristics:

OMIM:

53
Inheritance:
x-linked recessive


HPO:

31

Classifications:



Summaries for Tarp Syndrome

NIH Rare Diseases : 49 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. Last updated: 5/16/2016

MalaCards based summary : Tarp Syndrome, also known as pierre robin syndrome with congenital heart malformation and clubfoot, is related to prostate cancer and prostatitis, and has symptoms including low-set ears, pectus excavatum and clinodactyly. An important gene associated with Tarp Syndrome is RBM10 (RNA Binding Motif Protein 10). Affiliated tissues include heart, tongue and kidney.

UniProtKB/Swiss-Prot : 71 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 10.6
2 prostatitis 10.3
3 chlamydia 10.0
4 neuronitis 10.0
5 hepatosplenic t-cell lymphoma 10.0
6 blood group, i system 9.9
7 schizophrenia 9.9

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:

53
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 RibsSternum 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 Gastroin testinal:
tortuous duodenum (rare)

Skin Nails Hair Hair:
abnormal hair patterning (rare)


Clinical features from OMIM:

311900

Human phenotypes related to Tarp Syndrome:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 HP:0000369
2 pectus excavatum 31 occasional (7.5%) HP:0000767
3 clinodactyly 31 HP:0030084
4 high palate 31 HP:0000218
5 failure to thrive 31 HP:0001508
6 global developmental delay 31 HP:0001263
7 wide nasal bridge 31 HP:0000431
8 microtia 31 HP:0008551
9 anteverted nares 31 HP:0000463
10 optic atrophy 31 occasional (7.5%) HP:0000648
11 glossoptosis 31 HP:0000162
12 cleft palate 31 HP:0000175
13 micrognathia 31 HP:0000347
14 short sternum 31 occasional (7.5%) HP:0000879
15 intrauterine growth retardation 31 HP:0001511
16 horseshoe kidney 31 HP:0000085
17 cerebellar hypoplasia 31 HP:0001321
18 tetralogy of fallot 31 occasional (7.5%) HP:0001636
19 talipes equinovarus 31 HP:0001762
20 large fontanelles 31 HP:0000239
21 hydronephrosis 31 HP:0000126
22 underdeveloped supraorbital ridges 31 HP:0009891
23 deep palmar crease 31 HP:0006191
24 hypoplasia of the radius 31 HP:0002984
25 single transverse palmar crease 31 HP:0000954
26 cerebellar vermis hypoplasia 31 HP:0001320
27 short palpebral fissure 31 HP:0012745
28 generalized hypotonia 31 HP:0001290
29 posteriorly rotated ears 31 HP:0000358
30 cutaneous syndactyly 31 HP:0012725
31 abnormality of the corpus callosum 31 HP:0001273
32 postaxial polydactyly 31 occasional (7.5%) HP:0100259
33 tongue nodules 31 occasional (7.5%) HP:0000199
34 prominent antihelix 31 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 28 RBM10

Anatomical Context for Tarp Syndrome

MalaCards organs/tissues related to Tarp Syndrome:

38
Heart, Tongue, Kidney, Eye

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 )
2017
2
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. ( 24259342 )
2014
3
Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. ( 21910224 )
2011
4
Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients. ( 12794682 )
2003

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.1235G> A (p.Trp412Ter) single nucleotide variant Pathogenic rs267607000 GRCh37 Chromosome X, 47039892: 47039892
3 RBM10 NM_005676.4(RBM10): c.448C> T (p.Gln150Ter) single nucleotide variant Pathogenic rs886044718 GRCh38 Chromosome X, 47173143: 47173143
4 RBM10 NM_005676.4(RBM10): c.159delC (p.Lys54Serfs) deletion Pathogenic GRCh37 Chromosome X, 47028855: 47028855
5 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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