Details of Disease

Disease Name

Syndactyly

syndactyly (disease)

Definition

A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms.

Disease Hierarchy

DISQCXZX: Disorder of development or morphogenesis

DISYKSRF: Genetic disease

DIS5PU87: Skeletal system disorder

DISZK2BT: Syndactyly

Disease Identifiers

MONDO ID

MONDO_0021002

MESH ID

D013576

UMLS CUI

C0039075

MedGen ID

52619

HPO ID

HP:0001159

SNOMED CT ID

253975004

General Information of Disease (ID: DISZK2BT)

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
ABL1	TT6B75U	moderate	Biomarker	[1]
SOST	TTYRO4F	moderate	Biomarker	[2]
TFAP2A	TTDY4BS	moderate	Biomarker	[3]
CACNA1C	TTZIFHC	Strong	Genetic Variation	[4]
CREBBP	TTFRCTK	Strong	Biomarker	[5]
HPD	TT8DSFC	Strong	Genetic Variation	[6]
GDF5	TT37XV9	Definitive	Genetic Variation	[7]
JAG2	TTOJY1B	Definitive	Biomarker	[8]
NECTIN4	TTPO9EG	Definitive	Genetic Variation	[9]
ROR2	TTUDPCI	Definitive	Genetic Variation	[10]
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⏷ Show the Full List of 10 DTT(s)

This Disease Is Related to 23 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BHLHA9	OT80XOJB	Limited	Genetic Variation	[11]
LMBR1	OTGRQK9V	Limited	Genetic Variation	[12]
TP63	OT0WOOKQ	Limited	Genetic Variation	[13]
CKAP2L	OT4T73GG	moderate	Genetic Variation	[5]
GLI3	OTKDOE94	moderate	Genetic Variation	[14]
ABHD5	OTY829Z3	Strong	Genetic Variation	[15]
ACSL3	OT3MWER1	Strong	Genetic Variation	[16]
AKIRIN2	OTQ6WSKW	Strong	Biomarker	[17]
ALX4	OTNS9A29	Strong	Biomarker	[18]
CDAN1	OTCVZRG6	Strong	Genetic Variation	[19]
FBLN1	OT5MHHOP	Strong	Genetic Variation	[20]
FRAS1	OTLPESF3	Strong	Biomarker	[21]
FZD4	OTGLZIE0	Strong	Biomarker	[22]
HOXD12	OTKRUPGV	Strong	Biomarker	[23]
HOXD13	OTWSC8TF	Strong	Genetic Variation	[24]
MID1	OTWN1PGU	Strong	Genetic Variation	[25]
NEDD4L	OT1B19RU	Strong	Biomarker	[26]
NOG	OTGRHHPG	Strong	Genetic Variation	[27]
PHF21A	OTU3FFG4	Strong	Genetic Variation	[28]
TCF12	OTZVONNU	Strong	Genetic Variation	[29]
BMPR1B	OTGFN0OD	Definitive	Genetic Variation	[30]
MSX2	OT1WDKE1	Definitive	Altered Expression	[21]
SMOC1	OTJG2JQY	Definitive	Biomarker	[31]
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⏷ Show the Full List of 23 DOT(s)

References

1	Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet. 2017 Apr;49(4):613-617. doi: 10.1038/ng.3815. Epub 2017 Mar 13.
2	Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review.Bone. 2018 Nov;116:321-332. doi: 10.1016/j.bone.2018.07.022. Epub 2018 Aug 2.
3	Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.Hum Genet. 2009 Dec;126(6):791-803. doi: 10.1007/s00439-009-0730-x.
4	Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval.Am J Med Genet A. 2018 Jul;176(7):1657-1661. doi: 10.1002/ajmg.a.38833. Epub 2018 May 7.
5	Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.Eur J Hum Genet. 2016 Aug;24(9):1363-6. doi: 10.1038/ejhg.2016.14. Epub 2016 Mar 9.
6	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.
7	A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.Am J Med Genet A. 2006 Sep 1;140A(17):1846-53. doi: 10.1002/ajmg.a.31372.
8	Defects in limb, craniofacial, and thymic development in Jagged2 mutant mice.Genes Dev. 1998 Apr 1;12(7):1046-57. doi: 10.1101/gad.12.7.1046.
9	A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.Ann Hum Genet. 2018 Jul;82(4):232-238. doi: 10.1111/ahg.12244. Epub 2018 Feb 12.
10	A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.J Hum Genet. 2009 Jul;54(7):422-5. doi: 10.1038/jhg.2009.48. Epub 2009 May 22.
11	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.
12	Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36.Am J Med Genet A. 2013 Jul;161A(7):1579-84. doi: 10.1002/ajmg.a.35956. Epub 2013 May 17.
13	A novel mutation of p63 in a Chinese family with inherited syndactyly and adactylism.Mutat Res. 2008 Jan 1;637(1-2):182-9. doi: 10.1016/j.mrfmmm.2007.08.010. Epub 2007 Aug 26.
14	A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex.BMC Med Genet. 2014 Sep 30;15:110. doi: 10.1186/s12881-014-0110-9.
15	Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation.Clin Res Hepatol Gastroenterol. 2012 Apr;36(2):e34-7. doi: 10.1016/j.clinre.2011.12.007. Epub 2012 Jan 13.
16	Mutations of the TWIST gene in the Saethre-Chotzen syndrome.Nat Genet. 1997 Jan;15(1):42-6. doi: 10.1038/ng0197-42.
17	An essential role for the nuclear protein Akirin2 in mouse limb interdigital tissue regression.Sci Rep. 2018 Aug 16;8(1):12240. doi: 10.1038/s41598-018-30801-2.
18	The bovine aristaless-like homeobox 4 (ALX4) as a candidate gene for syndactyly.Cytogenet Genome Res. 2006;115(2):123-8. doi: 10.1159/000095231.
19	Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene.Ann Hematol. 2008 Sep;87(9):751-4. doi: 10.1007/s00277-008-0519-3. Epub 2008 Jun 25.
20	Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues. Eur J Hum Genet. 2014 May;22(5):640-3. doi: 10.1038/ejhg.2013.210. Epub 2013 Oct 2.
21	Syndactyly in a novel Fras1(rdf) mutant results from interruption of signals for interdigital apoptosis.Dev Dyn. 2016 Apr;245(4):497-507. doi: 10.1002/dvdy.24389. Epub 2016 Feb 24.
22	Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement.Am J Med Genet A. 2006 Dec 15;140(24):2721-9. doi: 10.1002/ajmg.a.31498.
23	Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.Eur J Hum Genet. 2011 Nov;19(11):1198-201. doi: 10.1038/ejhg.2011.95. Epub 2011 Jun 8.
24	Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly.Congenit Anom (Kyoto). 2017 Jan;57(1):4-7. doi: 10.1111/cga.12173.
25	X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.Am J Med Genet A. 2003 Jul 15;120A(2):222-8. doi: 10.1002/ajmg.a.10265.
26	Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. Nat Genet. 2016 Nov;48(11):1349-1358. doi: 10.1038/ng.3676. Epub 2016 Oct 3.
27	Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation: Long term follow-up on surgical treatment.Int J Pediatr Otorhinolaryngol. 2018 May;108:208-212. doi: 10.1016/j.ijporl.2018.03.008. Epub 2018 Mar 14.
28	Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.Mol Autism. 2019 Oct 22;10:35. doi: 10.1186/s13229-019-0286-0. eCollection 2019.
29	Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.Eur J Hum Genet. 2014 Dec;22(12):1413-6. doi: 10.1038/ejhg.2014.57. Epub 2014 Apr 16.
30	Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.Birth Defects Res A Clin Mol Teratol. 2015 Jun;103(6):567-72. doi: 10.1002/bdra.23354. Epub 2015 Mar 16.
31	SMOC1 is essential for ocular and limb development in humans and mice. Am J Hum Genet. 2011 Jan 7;88(1):30-41. doi: 10.1016/j.ajhg.2010.11.012. Epub 2010 Dec 30.