Details of Disease

General Information of Disease (ID: DISD78QR)

Disease Name Polysyndactyly 4
Synonyms
preaxial polydactyly 4; crossed polydactyly type 1; polydactyly, preaxial IV; polysyndactyly uncomplicated; crossed polydactyly, type 1; polydactyly, preaxial 4; polysyndactyly, uncomplicated; polydactyly preaxial 4; polydactyly, preaxial, type IV; PPD4; polydactyly, preaxial type 4; preaxial polydactyly type 4
Definition
Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.
Disease Hierarchy
DISFLSDF: Polydactyly-syndactyly-triphalangism
DISQHSJO: Non-syndromic synpolydactyly
DISO5FAY: Inborn error of metabolism
DISXO6C9: Preaxial polydactyly of fingers
DISD78QR: Polysyndactyly 4
Disease Identifiers
MONDO ID
MONDO_0008272
MESH ID
C536333
UMLS CUI
C1868111
OMIM ID
174700
MedGen ID
357420
Orphanet ID
93338

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
GLI3 OTKDOE94 Moderate Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.