Details of Disease

General Information of Disease (ID: DIS7WCFY)

Disease Name Polydactyly of a triphalangeal thumb
Synonyms
TPT-PS syndrome; triphalangeal thumb-polysyndactyly syndrome; triphalangeal thumb; triphalangeal thumb with polysyndactyly; polydactyly of triphalangeal thumb; polydactyly, preaxial II; polydactyly, preaxial 2; triphalangeal thumb-polydactyly syndrome; triphalangeal thumb, type i; PPD2; polydactyly, preaxial type 2; preaxial polydactyly type 2; polydactyly, preaxial type II
Definition
A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia.
Disease Hierarchy
DISXO6C9: Preaxial polydactyly of fingers
DIS7WCFY: Polydactyly of a triphalangeal thumb
Disease Identifiers
MONDO ID
MONDO_0008270
MESH ID
C536311
UMLS CUI
C1868114
OMIM ID
174500
MedGen ID
357423
Orphanet ID
93336
SNOMED CT ID
715710001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SHH TTIENCJ Strong Genetic Variation [1]
SHH TTIENCJ Definitive Autosomal dominant [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LMBR1 OTGRQK9V Strong Autosomal dominant [3]
PDSS1 OTXGVHAB Strong Genetic Variation [1]
SHH OTOG2BXF Definitive Autosomal dominant [2]
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References

1 Microduplication of 7q36.3 encompassing the SHH longrange regulator (ZRS) in a patient with triphalangeal thumbpolysyndactyly syndrome and congenital heart disease.Mol Med Rep. 2017 Feb;15(2):793-797. doi: 10.3892/mmr.2016.6092. Epub 2016 Dec 29.
2 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
3 Protecting the macula during eye surgery. J Ark Med Soc. 1976 Oct;73(5):203-4.