Details of Disease

General Information of Disease (ID: DISXO6C9)

• Disease Name: Preaxial polydactyly of fingers
• Synonyms: preaxial polydactyly of hand
• Definition: Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity.
• Disease Hierarchy:
  DISNK0Q9: Non-syndromic polydactyly
  DISXO6C9: Preaxial polydactyly of fingers
• Disease Identifiers:
  MONDO ID: MONDO_0017425
  UMLS CUI: C0345354
  MedGen ID: 87498
  HPO ID: HP:0100258
  SNOMED CT ID: 205135003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SHH	TTIENCJ	Limited	Biomarker	[1]
HPD	TT8DSFC	Strong	Genetic Variation	[2]
SMO	TT8J1S3	Strong	Biomarker	[3]

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GLI3	OTKDOE94	moderate	Genetic Variation	[4]
FBXW11	OT2A6RLR	Strong	Genetic Variation	[5]
HNRNPU	OTLQN1E2	Strong	Biomarker	[1]
LMBR1	OTGRQK9V	Strong	Genetic Variation	[6]
MNX1	OTXP9FH1	Strong	Genetic Variation	[7]
NOM1	OTWZSJJC	Strong	Genetic Variation	[7]

References

• [1] Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: causal or chance association.Am J Med Genet A. 2014 Jan;164A(1):186-9. doi: 10.1002/ajmg.a.36198. Epub 2013 Nov 8.
• [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 Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. Am J Hum Genet. 2016 Jun 2;98(6):1256-1265. doi: 10.1016/j.ajhg.2016.04.007. Epub 2016 May 26.
• [4] A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.Am J Med Genet A. 2017 Dec;173(12):3221-3225. doi: 10.1002/ajmg.a.38415. Epub 2017 Sep 8.
• [5] Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.J Hum Genet. 2006;51(8):721-726. doi: 10.1007/s10038-006-0010-8. Epub 2006 Jul 25.
• [6] Intrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing.Clin Genet. 2015 Nov;88(5):479-83. doi: 10.1111/cge.12534. Epub 2015 Jan 6.
• [7] A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36.Genomics. 1999 May 1;57(3):342-51. doi: 10.1006/geno.1999.5796.