Details of Disease

General Information of Disease (ID: DISP4N1Q)

Disease Name Congenital deformities of limbs
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DISP4N1Q: Congenital deformities of limbs
Disease Identifiers
MONDO ID
MONDO_0017427
MESH ID
D017880
UMLS CUI
C0206762
MedGen ID
60222
Orphanet ID
294944
SNOMED CT ID
60475009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 10 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
WNT7A TT8NARC moderate Genetic Variation [1]
BMP4 TTD3BSX Strong Biomarker [2]
CACNA1C TTZIFHC Strong Biomarker [3]
CHUK TT1F8OQ Strong Biomarker [4]
FGFR2 TTGJVQM Strong Biomarker [5]
GDF5 TT37XV9 Strong Genetic Variation [6]
HOXA11 TTEX4ZA Strong Biomarker [7]
PCSK5 TTPFWHU Strong Genetic Variation [8]
RPE65 TTBOH16 Strong Genetic Variation [9]
TGFB2 TTI0KH6 Strong Biomarker [10]
------------------------------------------------------------------------------------
⏷ Show the Full List of 10 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 [11]
------------------------------------------------------------------------------------
This Disease Is Related to 25 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SALL1 OTYYZGLH moderate Genetic Variation [12]
BHLHA9 OT80XOJB Strong Biomarker [13]
BMPR1B OTGFN0OD Strong Genetic Variation [14]
CHST11 OTNJJ5Q1 Strong Biomarker [15]
CHSY1 OTB1XSSF Strong Biomarker [16]
CKAP4 OTDUC9ME Strong Genetic Variation [9]
COL11A2 OT3BQUBH Strong Biomarker [17]
DLX6 OT0FIJHY Strong Genetic Variation [18]
EIF4A3 OTYYFE7K Strong Genetic Variation [19]
EVC OTRVYMXJ Strong Genetic Variation [20]
GPC6 OTNJBESF Strong Biomarker [21]
HAND2 OTCXYW4Y Strong Altered Expression [22]
HAPLN1 OTXWR9TJ Strong Biomarker [23]
HOXD11 OT9XGA4G Strong Biomarker [24]
HOXD12 OTKRUPGV Strong Biomarker [25]
IRF6 OTKJ44EV Strong Biomarker [26]
LMBR1 OTGRQK9V Strong Genetic Variation [27]
LRP4 OTO4M459 Strong Genetic Variation [28]
MSX2 OT1WDKE1 Strong Biomarker [29]
NIPBL OTF6OOLU Strong Genetic Variation [30]
PITX1 OTA0UN4C Strong Genetic Variation [31]
SALL4 OTC08PR5 Strong Biomarker [32]
TBX3 OTM64N7K Strong Genetic Variation [33]
TBX5 OT70PISV Strong Genetic Variation [34]
TP63 OT0WOOKQ Definitive Genetic Variation [9]
------------------------------------------------------------------------------------
⏷ Show the Full List of 25 DOT(s)

References

1 Roles of Wnt7a in embryo development, tissue homeostasis, and human diseases.J Cell Biochem. 2019 Nov;120(11):18588-18598. doi: 10.1002/jcb.29217. Epub 2019 Jun 29.
2 Busulfan-induced central polydactyly, syndactyly and cleft hand or foot: a common mechanism of disruption leads to divergent phenotypes.Dev Growth Differ. 2007 Aug;49(6):533-41. doi: 10.1111/j.1440-169X.2007.00949.x.
3 Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 2004 Oct 1;119(1):19-31. doi: 10.1016/j.cell.2004.09.011.
4 Mutant CHUK and severe fetal encasement malformation. N Engl J Med. 2010 Oct 21;363(17):1631-7. doi: 10.1056/NEJMoa0911698.
5 An important role for the IIIb isoform of fibroblast growth factor receptor 2 (FGFR2) in mesenchymal-epithelial signalling during mouse organogenesis.Development. 2000 Feb;127(3):483-92. doi: 10.1242/dev.127.3.483.
6 Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.J Bone Miner Metab. 2016 Sep;34(5):599-603. doi: 10.1007/s00774-015-0693-z. Epub 2015 Aug 15.
7 Absence of radius and ulna in mice lacking hoxa-11 and hoxd-11.Nature. 1995 Jun 29;375(6534):791-5. doi: 10.1038/375791a0.
8 VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5.Genes Dev. 2008 Jun 1;22(11):1465-77. doi: 10.1101/gad.479408.
9 Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC).Am J Med Genet A. 2009 Sep;149A(9):1948-51. doi: 10.1002/ajmg.a.32793.
10 TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes.Development. 1997 Jul;124(13):2659-70. doi: 10.1242/dev.124.13.2659.
11 Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.Hum Mol Genet. 2000 May 22;9(9):1385-91. doi: 10.1093/hmg/9.9.1385.
12 Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.Am J Med Genet A. 2007 Dec 15;143A(24):3150-60. doi: 10.1002/ajmg.a.32097.
13 Gene dosage of the transcription factor Fingerin (bHLHA9) affects digit development and links syndactyly to ectrodactyly.Hum Mol Genet. 2014 Oct 15;23(20):5394-401. doi: 10.1093/hmg/ddu257. Epub 2014 May 22.
14 Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet. 2009 Apr;84(4):483-92. doi: 10.1016/j.ajhg.2009.03.001. Epub 2009 Mar 26.
15 Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly.J Med Genet. 2018 Jul;55(7):489-496. doi: 10.1136/jmedgenet-2017-105003. Epub 2018 Mar 7.
16 Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. Am J Hum Genet. 2010 Dec 10;87(6):757-67. doi: 10.1016/j.ajhg.2010.10.003.
17 Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene. Am J Med Genet A. 2006 Jun 1;140(11):1189-95. doi: 10.1002/ajmg.a.31205.
18 Are there CAG repeat expansion-related disorders outside the central nervous system?.Brain Res Bull. 2001 Oct-Nov 1;56(3-4):259-64. doi: 10.1016/s0361-9230(01)00663-3.
19 EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.Hum Mol Genet. 2017 Jun 15;26(12):2177-2191. doi: 10.1093/hmg/ddx078.
20 Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus.Am J Med Genet. 2000 Winter;97(4):304-9. doi: 10.1002/1096-8628(200024)97:4<304::aid-ajmg1281>3.0.co;2-#.
21 Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. Am J Hum Genet. 2009 Jun;84(6):760-70. doi: 10.1016/j.ajhg.2009.05.002. Epub 2009 May 28.
22 The Hand2 gene dosage effect in developmental defects and human congenital disorders.Curr Top Dev Biol. 2014;110:129-52. doi: 10.1016/B978-0-12-405943-6.00003-8.
23 Mice lacking link protein develop dwarfism and craniofacial abnormalities.Nat Genet. 1999 Feb;21(2):225-9. doi: 10.1038/6016.
24 A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse.Development. 1996 Apr;122(4):1175-85. doi: 10.1242/dev.122.4.1175.
25 Point mutation of Hoxd12 in mice.Yonsei Med J. 2008 Dec 31;49(6):965-72. doi: 10.3349/ymj.2008.49.6.965.
26 Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6).Nat Genet. 2006 Nov;38(11):1335-40. doi: 10.1038/ng1903. Epub 2006 Oct 15.
27 A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.Hum Mutat. 2012 Jul;33(7):1063-6. doi: 10.1002/humu.22097. Epub 2012 May 11.
28 Severe Cenani-Lenz syndrome caused by loss of LRP4 function.Am J Med Genet A. 2013 Jun;161A(6):1475-9. doi: 10.1002/ajmg.a.35920. Epub 2013 May 1.
29 Different regulation of limb development by p63 transcript variants.PLoS One. 2017 Mar 23;12(3):e0174122. doi: 10.1371/journal.pone.0174122. eCollection 2017.
30 Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally.Prenat Diagn. 2014 Feb;34(2):163-7. doi: 10.1002/pd.4279. Epub 2013 Dec 9.
31 Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. Eur J Hum Genet. 2012 Jun;20(6):705-8. doi: 10.1038/ejhg.2011.264. Epub 2012 Jan 18.
32 Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome. Elife. 2018 Aug 1;7:e38430. doi: 10.7554/eLife.38430.
33 Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome.Endocr Connect. 2018 Dec 1;7(12):1432-1441. doi: 10.1530/EC-18-0486.
34 Structural basis of TBX5-DNA recognition: the T-box domain in its DNA-bound and -unbound form.J Mol Biol. 2010 Jul 2;400(1):71-81. doi: 10.1016/j.jmb.2010.04.052. Epub 2010 May 5.