General Information of Disease (ID: DIS2V1ZD)

Disease Name Triphalangeal thumb-polysyndactyly syndrome
Synonyms TPT-PS syndrome
Definition
Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly.
Disease Hierarchy
DIS3LICD: Congenital limb malformation
DIS2V1ZD: Triphalangeal thumb-polysyndactyly syndrome

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SHH TTIENCJ Supportive Autosomal dominant [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LMBR1 OTGRQK9V Supportive Autosomal dominant [1]
SHH OTOG2BXF Supportive Autosomal dominant [1]
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References

1 A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. J Med Genet. 2008 Jun;45(6):370-5. doi: 10.1136/jmg.2007.055699. Epub 2008 Jan 4.