Tarp Syndrome (TARPS)

Alias:
Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence of the Left Superior Vena Cava Syndrome
Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome
Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome
Tarps
Pierre Robin Syndrome with Congenital Heart Malformation and Clubfoot
Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, and Persistence of Left Superior Vena Cava
Talipes Equinovarus Atrial Septal Defect Robin Sequence and Persistence of Left Superior Vena Cava
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Tarp Syndrome, also known as talipes equinovarus-atrial septal defect-robin sequence-persistence of the left superior vena cava syndrome, is related to clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly and isolated pierre robin syndrome. An important gene associated with Tarp Syndrome is RBM10 (RNA Binding Motif Protein 10), and among its related pathways/superpathways is Processing of Capped Intron-Containing Pre-mRNA. Affiliated tissues include heart and tongue, and related phenotypes are atrial septal defect and talipes equinovarus
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Antenatal
<1/1000000
22
102
10

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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