Details of Disease | DrugMAP

General Information of Disease (ID: DIS4IIPW)

Disease Name	Postaxial polydactyly type A
Synonyms	postaxial polydactyly type A (disease); postaxial polydactyly type A; PAPA
Disease Hierarchy	DIS085OV: Postaxial polydactyly DIS4IIPW: Postaxial polydactyly type A
Disease Identifiers	MONDO ID MONDO_0019673 UMLS CUI C3887487 MedGen ID 854350 HPO ID HP:0005696 Orphanet ID 93334 SNOMED CT ID 715704001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZNF141	OTUVOFQN	Supportive	Autosomal recessive	[1]
CCND2	OTDULQF9	Limited	Biomarker	[3]
CIBAR1	OTQFX76P	Supportive	Autosomal recessive	[4]
GLI1	OT1BTAJO	Supportive	Autosomal recessive	[2]
GLI3	OTKDOE94	Supportive	Autosomal recessive	[1]
IQCE	OTESYUOO	Supportive	Autosomal recessive	[1]
KIAA0825	OTANX32T	Supportive	Autosomal recessive	[5]
DACH1	OTMKNAGG	Strong	Biomarker	[6]
PSTPIP1	OT4PGEAB	Strong	Genetic Variation	[7]
------------------------------------------------------------------------------------


⏷ Show the Full List of 9 DOT(s)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GLI1	TTJOMH6	Supportive	Autosomal recessive	[2]
------------------------------------------------------------------------------------

References

1	Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet A. 2015 Dec;167A(12):2869-92. doi: 10.1002/ajmg.a.37365. Epub 2015 Sep 23.
2	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.
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	FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. J Bone Miner Res. 2019 Feb;34(2):375-386. doi: 10.1002/jbmr.3594. Epub 2018 Nov 5.
5	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.
6	DACH: genomic characterization, evaluation as a candidate for postaxial polydactyly type A2, and developmental expression pattern of the mouse homologue.Genomics. 2001 Sep;77(1-2):18-26. doi: 10.1006/geno.2001.6618.
7	Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway.Proc Natl Acad Sci U S A. 2003 Nov 11;100(23):13501-6. doi: 10.1073/pnas.2135380100. Epub 2003 Oct 31.