Details of Disease

General Information of Disease (ID: DIS085OV)

Disease Name Postaxial polydactyly
Disease Hierarchy
DISNK0Q9: Non-syndromic polydactyly
DIS085OV: Postaxial polydactyly
Disease Identifiers
MONDO ID
MONDO_0020927
UMLS CUI
C0220697
MedGen ID
67394
HPO ID
HP:0100259

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 Strong Genetic Variation [1]
HPD TT8DSFC Strong Biomarker [2]
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This Disease Is Related to 10 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CCND2 OTDULQF9 Limited Biomarker [3]
GLI3 OTKDOE94 Limited Genetic Variation [4]
CPLANE1 OTXGGNNB moderate Genetic Variation [5]
IQCE OTESYUOO moderate Biomarker [6]
DDX59 OTHJANS0 Strong Genetic Variation [7]
EVC2 OTY0M5SD Strong Genetic Variation [8]
KIAA0825 OTANX32T Strong Genetic Variation [9]
RANGAP1 OTZGD3LJ Strong Biomarker [10]
MKKS OTLF5T11 Definitive Biomarker [11]
TCTN2 OTKR3I3L Definitive Biomarker [12]
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⏷ Show the Full List of 10 DOT(s)

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 Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.Clin Genet. 2005 May;67(5):429-33. doi: 10.1111/j.1399-0004.2005.00431.x.
3 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.
4 A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly.Ann Plast Surg. 2019 May;82(5):570-573. doi: 10.1097/SAP.0000000000001685.
5 Joubert syndrome: genotyping a Northern European patient cohort.Eur J Hum Genet. 2016 Feb;24(2):214-20. doi: 10.1038/ejhg.2015.84. Epub 2015 Apr 29.
6 Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.Hum Mutat. 2020 Jan;41(1):240-254. doi: 10.1002/humu.23924. Epub 2019 Oct 17.
7 Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families.Eur J Med Genet. 2017 Oct;60(10):527-532. doi: 10.1016/j.ejmg.2017.07.009. Epub 2017 Jul 12.
8 Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling.Taiwan J Obstet Gynecol. 2010 Dec;49(4):481-6. doi: 10.1016/S1028-4559(10)60101-5.
9 Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet. 2019 Jun;138(6):593-600. doi: 10.1007/s00439-019-02000-0. Epub 2019 Apr 13.
10 Segregation distortion in the offspring of Afro-American fathers with postaxial polydactyly.Am J Hum Genet. 1995 May;56(5):1207-11.
11 Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat Genet. 2000 May;25(1):79-82. doi: 10.1038/75637.
12 A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. Hum Mutat. 2011 Jun;32(6):573-8. doi: 10.1002/humu.21507. Epub 2011 May 5.