Details of Disease

General Information of Disease (ID: DIS7ZSZP)

Disease Name TARP syndrome
Synonyms
talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left Superior vena cava; Pierre Robin syndrome - congenital heart defect - talipes; Pierre Robin sequence - congenital heart defect - talipes; Pierre Robin syndrome with congenital heart malformation and clubfoot; TARPS; talipes equinovarus - atrial septal defect - Robin sequence - persistence of the left superior vena cava; Pierre Robin syndrome-congenital heart defect-talipes syndrome; TARP syndrome, X-linked recessive; talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome; tarp syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome
Definition
A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.
Disease Hierarchy
DISMT2VZ: Cardiogenetic disease
DIS7ZSZP: TARP syndrome
Disease Identifiers
MONDO ID
MONDO_0010711
MESH ID
C536942
UMLS CUI
C1839463
OMIM ID
311900
MedGen ID
333324
Orphanet ID
2886
SNOMED CT ID
725911008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RBM10 OTES2MES Strong X-linked [1]
------------------------------------------------------------------------------------

References

1 Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet. 2010 May 14;86(5):743-8. doi: 10.1016/j.ajhg.2010.04.007. Epub 2010 May 6.