Details of Disease

General Information of Disease (ID: DISIKM1O)

Disease Name Polydactyly, postaxial, type A8
Synonyms PAPA8; polydactyly, postaxial, type A8
Disease Hierarchy
DIS4IIPW: Postaxial polydactyly type A
DISIKM1O: Polydactyly, postaxial, type A8
Disease Identifiers
MONDO ID
MONDO_0029130
UMLS CUI
C4748277
OMIM ID
618123
MedGen ID
1648405

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
GLI1 TTJOMH6 Limited Unknown [1]
GLI1 TTJOMH6 Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GLI1 OT1BTAJO Limited Unknown [1]
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References

1 Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B. Hum Mutat. 2020 Jan;41(1):265-276. doi: 10.1002/humu.23921. Epub 2019 Nov 6.
2 A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly. Clin Genet. 2019 Apr;95(4):540-541. doi: 10.1111/cge.13495. Epub 2019 Jan 8.