Details of Disease

General Information of Disease (ID: DIS25BMZ)

Disease Name Polydactyly
Synonyms postaxial polydactyly; supernumerary digit; polydactyly (disease); hyperdactyly; polydactyly; polydactylism
Definition A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms.
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DISYKSRF: Genetic disease
DIS5PU87: Skeletal system disorder
DIS25BMZ: Polydactyly
Disease Identifiers
MONDO ID
MONDO_0021003
MESH ID
D017689
UMLS CUI
C0152427
OMIM ID
603596
MedGen ID
57774
HPO ID
HP:0010442
SNOMED CT ID
367506006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 16 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AKT3 TTO6SGY Limited Biomarker [1]
CD96 TT83C4X Limited Biomarker [2]
SHH TTIENCJ Limited Biomarker [3]
TFAP2A TTDY4BS moderate Biomarker [4]
BMP4 TTD3BSX Strong Biomarker [5]
CREBBP TTFRCTK Strong Genetic Variation [6]
EBP TT4VQZX Strong Biomarker [7]
FGFR2 TTGJVQM Strong Genetic Variation [8]
GLI2 TT045OH Strong Genetic Variation [9]
GPC3 TTJTSX4 Strong Biomarker [10]
HOXA13 TTN26OM Strong Biomarker [11]
HPD TT8DSFC Strong Genetic Variation [12]
NEK1 TTO5QT2 Strong Biomarker [13]
PORCN TTNFBTO Strong Biomarker [14]
SMO TT8J1S3 Strong Biomarker [15]
TWIST1 TTX1MY7 Strong Altered Expression [16]
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⏷ Show the Full List of 16 DTT(s)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
DHCR7 DEL7GFA Strong Biomarker [17]
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This Disease Is Related to 72 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
B9D1 OTWTXO75 Limited Biomarker [18]
DYNC2H1 OTLC8K6B Limited Biomarker [19]
MBTPS2 OT67CC7W Limited Biomarker [20]
MKS1 OT83W5PB Limited Biomarker [21]
SDCCAG8 OTV2ZGV9 Limited Genetic Variation [22]
STKLD1 OT50FO63 Limited Autosomal dominant [23]
TBX22 OTT1RM26 Limited Biomarker [24]
TRIM32 OTJOV0PG Limited Biomarker [25]
HNRNPK OTNPRM8U moderate Genetic Variation [26]
IFT27 OT3NY6O6 moderate Biomarker [27]
IFT43 OTKWYQ5C moderate Biomarker [28]
PDE6D OTIFVXWD moderate Biomarker [29]
SPINT2 OTQV7BKQ moderate Biomarker [30]
AHI1 OT8K2YWY Strong Biomarker [31]
ALMS1 OTW66JKS Strong Biomarker [32]
ALX4 OTNS9A29 Strong Biomarker [33]
ARL6 OTLV3SBS Strong Biomarker [34]
ARMC9 OT0MZER2 Strong Genetic Variation [35]
B9D2 OT5SS4P8 Strong Biomarker [36]
BBS1 OTXSXB1K Strong Biomarker [37]
BBS10 OTL1TTWX Strong Genetic Variation [38]
BBS2 OTPF9JIB Strong Genetic Variation [39]
BBS4 OT0D3JC0 Strong Genetic Variation [40]
BHLHA9 OT80XOJB Strong Genetic Variation [41]
CC2D2A OTFGRGFR Strong Biomarker [42]
CCN6 OTRFHQ2Z Strong Genetic Variation [12]
CCND2 OTDULQF9 Strong Biomarker [43]
CEP19 OTL2WXOR Strong CausalMutation [44]
CILK1 OTWOYEYP Strong Biomarker [45]
CKAP2L OT4T73GG Strong Biomarker [46]
DDX59 OTHJANS0 Strong Biomarker [47]
DISP1 OTLDFZSY Strong Genetic Variation [48]
FBXW11 OT2A6RLR Strong Biomarker [49]
FRAS1 OTLPESF3 Strong Biomarker [50]
FREM2 OTEK6BZR Strong Biomarker [51]
GATA6 OTO2BC0F Strong Posttranslational Modification [52]
GGA2 OT43HO27 Strong Genetic Variation [53]
GLI3 OTKDOE94 Strong Genetic Variation [54]
GPC4 OTUJ14DW Strong Biomarker [55]
GRIP1 OT958HK1 Strong Biomarker [56]
IFT52 OTFIVV9A Strong Biomarker [57]
IFT80 OTMH0MBI Strong Biomarker [58]
IFT88 OTDR3VBD Strong Biomarker [59]
INPP5E OTJF2AZ9 Strong Biomarker [60]
IQCE OTESYUOO Strong Genetic Variation [61]
KIAA0586 OTOZRC1U Strong Genetic Variation [62]
KIF3A OTMUBSSK Strong Biomarker [63]
KIF7 OT1J6NAW Strong Biomarker [64]
KPNA4 OTP0EX18 Strong Genetic Variation [65]
LBR OT1HG3HG Strong Biomarker [66]
LMBR1 OTGRQK9V Strong Altered Expression [67]
LZTFL1 OTIEIOEW Strong Biomarker [68]
MEGF8 OT5G38CH Strong Biomarker [69]
MIPOL1 OTLPN3D0 Strong Genetic Variation [61]
MKKS OTLF5T11 Strong Genetic Variation [70]
PCBD1 OTDSRUD5 Strong Genetic Variation [71]
PDSS1 OTXGVHAB Strong Altered Expression [67]
PIGX OTUN0WC4 Strong CausalMutation [44]
PIK3R2 OTZSUQK5 Strong Biomarker [72]
PITX1 OTA0UN4C Strong Genetic Variation [73]
RAB34 OTHKTSA0 Strong Genetic Variation [74]
RBM10 OTES2MES Strong Biomarker [75]
SAG OTDNS3ZQ Strong Biomarker [76]
SMOC1 OTJG2JQY Strong Biomarker [77]
STAG2 OTR6X1Q7 Strong Genetic Variation [78]
TBX5 OT70PISV Strong Biomarker [79]
TCTN3 OTZSHERV Strong Biomarker [80]
TFAP2B OTR1T8E9 Strong Biomarker [81]
TGIF1 OTN9VHAG Strong Biomarker [48]
TMEM107 OT9RMLBJ Strong Genetic Variation [82]
TMEM67 OTME92T5 Strong Biomarker [83]
TCTN2 OTKR3I3L Definitive Biomarker [84]
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⏷ Show the Full List of 72 DOT(s)

References

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22 Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model.PLoS One. 2018 Feb 14;13(2):e0192755. doi: 10.1371/journal.pone.0192755. eCollection 2018.
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24 X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations. Clin Genet. 2013 Apr;83(4):352-8. doi: 10.1111/j.1399-0004.2012.01930.x. Epub 2012 Aug 7.
25 Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc Natl Acad Sci U S A. 2006 Apr 18;103(16):6287-92. doi: 10.1073/pnas.0600158103. Epub 2006 Apr 10.
26 Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.Clin Genet. 2018 Feb;93(2):401-407. doi: 10.1111/cge.13029. Epub 2017 Apr 25.
27 Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.Am J Med Genet A. 2018 Jul;176(7):1610-1613. doi: 10.1002/ajmg.a.38685. Epub 2018 Apr 27.
28 Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.Cilia. 2017 Apr 10;6:7. doi: 10.1186/s13630-017-0051-y. eCollection 2017.
29 A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Hum Mutat. 2014 Jan;35(1):137-46. doi: 10.1002/humu.22470.
30 A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities.Clin Dysmorphol. 2007 Oct;16(4):211-21. doi: 10.1097/MCD.0b013e328274264b.
31 Joubert syndrome: a review.Am J Med Genet. 1992 Jul 1;43(4):726-31. doi: 10.1002/ajmg.1320430415.
32 Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.Clin Genet. 2015 Feb;87(2):161-6. doi: 10.1111/cge.12342. Epub 2014 Feb 18.
33 Physical and genetic interactions between Alx4 and Cart1.Development. 1999 Jan;126(2):359-69. doi: 10.1242/dev.126.2.359.
34 Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.J Med Genet. 2010 Apr;47(4):236-41. doi: 10.1136/jmg.2009.070755. Epub 2009 Oct 26.
35 Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly.Am J Med Genet A. 2018 Jan;176(1):34-40. doi: 10.1002/ajmg.a.38537. Epub 2017 Nov 21.
36 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19.
37 Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.Science. 2001 Sep 21;293(5538):2256-9. doi: 10.1126/science.1063525.
38 BBS10 mutations are common in 'Meckel'-type cystic kidneys. J Med Genet. 2010 Dec;47(12):848-52. doi: 10.1136/jmg.2010.079392. Epub 2010 Aug 30.
39 Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.Eur J Med Genet. 2011 Mar-Apr;54(2):157-60. doi: 10.1016/j.ejmg.2010.10.004. Epub 2010 Oct 29.
40 Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.Am J Med Genet. 1998 Aug 6;78(5):461-7. doi: 10.1002/(sici)1096-8628(19980806)78:5<461::aid-ajmg12>3.0.co;2-d.
41 A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction.Eur J Med Genet. 2019 Apr;62(4):278-281. doi: 10.1016/j.ejmg.2018.08.005. Epub 2018 Aug 11.
42 Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.Cilia. 2012 Oct 1;1(1):18. doi: 10.1186/2046-2530-1-18.
43 De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet. 2014 May;46(5):510-515. doi: 10.1038/ng.2948. Epub 2014 Apr 6.
44 Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. J Med Genet. 2018 Mar;55(3):189-197. doi: 10.1136/jmedgenet-2017-104758. Epub 2017 Nov 10.
45 A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems. Am J Hum Genet. 2009 Feb;84(2):134-47. doi: 10.1016/j.ajhg.2008.12.017. Epub 2009 Jan 29.
46 Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome. Am J Hum Genet. 2014 Nov 6;95(5):622-32. doi: 10.1016/j.ajhg.2014.10.008. Epub 2014 Nov 6.
47 Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. Am J Hum Genet. 2013 Sep 5;93(3):555-60. doi: 10.1016/j.ajhg.2013.07.012. Epub 2013 Aug 22.
48 Holoprosencephaly-Polydactyly syndrome: in search of an etiology.Eur J Med Genet. 2008 Mar-Apr;51(2):106-12. doi: 10.1016/j.ejmg.2007.08.004. Epub 2007 Sep 15.
49 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.
50 Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.Am J Med Genet A. 2006 Sep 15;140(18):1909-14. doi: 10.1002/ajmg.a.31399.
51 Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat Genet. 2005 May;37(5):520-5. doi: 10.1038/ng1549. Epub 2005 Apr 17.
52 Gata6 restricts Isl1 to the posterior of nascent hindlimb buds through Isl1 cis-regulatory modules.Dev Biol. 2018 Feb 1;434(1):74-83. doi: 10.1016/j.ydbio.2017.11.013. Epub 2017 Dec 7.
53 Association of SNP rs80659072 in the ZRS with polydactyly in Beijing You chickens.PLoS One. 2017 Oct 9;12(10):e0185953. doi: 10.1371/journal.pone.0185953. eCollection 2017.
54 Novel GLI3 Mutations in Chinese Patients with Non-syndromic Post-axial Polydactyly.Curr Mol Med. 2019;19(3):228-235. doi: 10.2174/1566524019666190308110122.
55 An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2.Eur J Med Genet. 2010 Jan-Feb;53(1):45-9. doi: 10.1016/j.ejmg.2009.11.003. Epub 2009 Nov 23.
56 Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.Am J Med Genet A. 2014 Mar;164A(3):837-40. doi: 10.1002/ajmg.a.36343. Epub 2013 Dec 19.
57 A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. Clin Genet. 2016 Dec;90(6):536-539. doi: 10.1111/cge.12762. Epub 2016 Mar 15.
58 IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet. 2007 Jun;39(6):727-9. doi: 10.1038/ng2038. Epub 2007 Apr 29.
59 Dynll1 is essential for development and promotes endochondral bone formation by regulating intraflagellar dynein function in primary cilia.Hum Mol Genet. 2019 Aug 1;28(15):2573-2588. doi: 10.1093/hmg/ddz083.
60 INPP5E regulates phosphoinositide-dependent cilia transition zone function.J Cell Biol. 2017 Jan 2;216(1):247-263. doi: 10.1083/jcb.201511055. Epub 2016 Dec 20.
61 Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb. Eur J Hum Genet. 2017 Aug;25(8):960-965. doi: 10.1038/ejhg.2017.83. Epub 2017 May 10.
62 Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. Am J Hum Genet. 2015 Aug 6;97(2):311-8. doi: 10.1016/j.ajhg.2015.06.003. Epub 2015 Jul 9.
63 Kinesin-2 controls development and patterning of the vertebrate skeleton by Hedgehog- and Gli3-dependent mechanisms.Dev Biol. 2007 Sep 15;309(2):273-84. doi: 10.1016/j.ydbio.2007.07.018. Epub 2007 Jul 24.
64 Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice.Hum Mol Genet. 2019 Mar 15;28(6):877-887. doi: 10.1093/hmg/ddy392.
65 Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.Eur J Hum Genet. 2000 Aug;8(8):645-8. doi: 10.1038/sj.ejhg.5200507.
66 Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6.
67 Microduplication of 7q36.3 encompassing the SHH longrange regulator (ZRS) in a patient with triphalangeal thumbpolysyndactyly syndrome and congenital heart disease.Mol Med Rep. 2017 Feb;15(2):793-797. doi: 10.3892/mmr.2016.6092. Epub 2016 Dec 29.
68 Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations. Clin Genet. 2014 May;85(5):476-81. doi: 10.1111/cge.12198. Epub 2013 Jun 12.
69 Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. Am J Hum Genet. 2012 Nov 2;91(5):897-905. doi: 10.1016/j.ajhg.2012.08.027. Epub 2012 Oct 11.
70 A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.Mol Vis. 2016 Jan 24;22:73-81. eCollection 2016.
71 Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.Hum Mutat. 2010 Oct;31(10):1142-54. doi: 10.1002/humu.21328.
72 Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.Lancet Neurol. 2015 Dec;14(12):1182-95. doi: 10.1016/S1474-4422(15)00278-1. Epub 2015 Oct 29.
73 Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly.Mol Genet Genomic Med. 2019 Jul;7(7):e00627. doi: 10.1002/mgg3.627. Epub 2019 May 21.
74 Rab34 small GTPase is required for Hedgehog signaling and an early step of ciliary vesicle formation in mouse.J Cell Sci. 2018 Nov 8;131(21):jcs213710. doi: 10.1242/jcs.213710.
75 Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.Am J Med Genet A. 2014 Jan;164A(1):120-8. doi: 10.1002/ajmg.a.36212. Epub 2013 Nov 20.
76 Preaxial polydactyly following early gestational exposure to the smoothened agonist, SAG, in C57BL/6J mice.Birth Defects Res. 2017 Jan 20;109(1):49-54. doi: 10.1002/bdra.23571.
77 Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.Am J Hum Genet. 2011 Jan 7;88(1):92-8. doi: 10.1016/j.ajhg.2010.12.002. Epub 2010 Dec 30.
78 Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.Mol Genet Genomic Med. 2019 Feb;7(2):e00501. doi: 10.1002/mgg3.501. Epub 2018 Nov 16.
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80 TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet. 2012 Aug 10;91(2):372-8. doi: 10.1016/j.ajhg.2012.06.017.
81 Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype.Clin Dysmorphol. 2000 Jul;9(3):177-82. doi: 10.1097/00019605-200009030-00005.
82 TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.Hum Mutat. 2016 Feb;37(2):155-9. doi: 10.1002/humu.22925. Epub 2015 Nov 23.
83 Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum Genet. 2007 Jun;121(5):591-9. doi: 10.1007/s00439-007-0341-3. Epub 2007 Mar 22.
84 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.