Details of Disease

General Information of Disease (ID: DISFMXAM)

Disease Name Polydactyly, postaxial, type A1
Synonyms postaxial polydactyly, type B; polydactyly, postaxial; PAPA1; postaxial polydactyly, type A; polydactyly, postaxial, types A1 and B; polydactyly, postaxial, type A1
Disease Hierarchy
DIS4IIPW: Postaxial polydactyly type A
DISFMXAM: Polydactyly, postaxial, type A1
Disease Identifiers
MONDO ID
MONDO_0008266
MESH ID
C562429
UMLS CUI
C4282400
OMIM ID
174200
MedGen ID
924305

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CCND2 OTDULQF9 Limited Biomarker [1]
GLI3 OTKDOE94 Definitive Autosomal dominant [2]
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References

1 A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.Neuropediatrics. 2018 Jun;49(3):222-224. doi: 10.1055/s-0038-1641722. Epub 2018 Apr 11.
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.